Q9Y2X7

SS
Gene name
GIT1
Protein name
ARF GTPase-activating protein GIT1
Names
ARF GAP GIT1 , Cool-associated and tyrosine-phosphorylated protein 1 , CAT-1 , CAT1 , G protein-coupled receptor kinase-interactor 1 , GRK-interacting protein 1 , p95-APP1
Species
Homo sapiens (Human)
KEGG Pathway
hsa:28964
EC number
Protein Class

Descriptions

G-protein coupled receptor kinase-interacting protein (GIT, p95-APP1) proteins include an N-terminal Arf GTPase-activating protein domain (Arf-GAP domain), three ankyrin repeats, a Spa2-homology domain (SHD), a coiled-coil domain including a leucine zipper required for dimerization, and a paxillin-binding site (PBS). To autoinhibit the C-terminal domain, the N-terminal GAP domain (1-124) interacts with the C-terminal domain. In addition, the interaction between the ankyrin repeats and SHD domain is probably the main intramolecular interface to keep the inactive conformation (GAP-C terminal domain interaction) of p95-APP1. Therefore, the SHD domain is essential in mediating the intramolecular interactions between the C-terminal half of GIT1 and the N-terminal part including GAP domain and ankyrin repeats.

Autoinhibitory domains (AIDs)

1-228 (N-terminal part including GAP domain and ankyrin repeats) SS

Target domain

257-347 (C-terminal SHD domain)

Relief mechanism

Partner binding, PTM

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q9Y2X7

Entry ID Method Resolution Chain Position Source
AF-Q9Y2X7-F1 Predicted AlphaFoldDB

616 variants for Q9Y2X7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs2150826248
RCV001843818
 524 G>missing Developmental disorder [ClinVar] Yes ClinVar
dbSNP
rs2033727821 5 G>V No TOPMed
rs1193480838 8 A>S No gnomAD
rs1389429308 9 E>* No Ensembl
rs964639959 9 E>D No TOPMed
gnomAD
rs1487752987 12 A>T No gnomAD
rs1019896622 12 A>V No TOPMed
gnomAD
rs2033725858 15 S>N No gnomAD
rs2150858406 16 A>S No Ensembl
rs951047270 17 P>L No TOPMed
gnomAD
rs951047270 17 P>R No TOPMed
gnomAD
rs1201104411 18 D>E No gnomAD
rs893375990 18 D>G No gnomAD
rs1478172806 19 P>A No gnomAD
TCGA novel 19 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs112222959 20 G>D No Ensembl
rs1218809824 22 A>V No gnomAD
rs898453812 24 I>L No TOPMed
gnomAD
rs2033478531 26 R>K No gnomAD
rs1244617612 27 G>V No TOPMed
gnomAD
rs2033477755 33 E>G No TOPMed
rs762336493 33 E>K No ExAC
TOPMed
gnomAD
rs763054640 37 V>L No ExAC
TOPMed
gnomAD
rs763054640 37 V>M No ExAC
TOPMed
gnomAD
TCGA novel 39 R>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs769460886 39 R>G No ExAC
TOPMed
gnomAD
rs201003587 39 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs769460886 39 R>W No ExAC
TOPMed
gnomAD
rs2033477096 40 S>G No TOPMed
gnomAD
rs1464543494 40 S>N No gnomAD
rs2033477096 40 S>R No TOPMed
gnomAD
rs751739476 43 R>C No TOPMed
gnomAD
rs1035982778 43 R>H No TOPMed
gnomAD
rs751739476 43 R>S No TOPMed
gnomAD
rs1177682833 44 H>Q No gnomAD
rs941659032 44 H>Y No Ensembl
rs745617143 47 I>M No ExAC
gnomAD
rs780882502 48 V>F No ExAC
gnomAD
rs1189103430 49 K>R No gnomAD
rs2033475974 50 H>Y No TOPMed
rs746992247 51 L>F No ExAC
TOPMed
gnomAD
rs746992247 51 L>V No ExAC
TOPMed
gnomAD
rs2033475711 52 R>C No gnomAD
rs200603121 52 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200603121 52 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs187487955 55 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs748697870 55 A>V No ExAC
gnomAD
rs924804550 59 T>A No TOPMed
gnomAD
rs767887643 59 T>M No ExAC
TOPMed
gnomAD
TCGA novel 61 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1244658391 65 H>Q No gnomAD
rs766266713 65 H>R No ExAC
gnomAD
rs146774510 66 T>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2033455843 71 G>R No gnomAD
rs748054706 73 N>S No ExAC
gnomAD
rs748054706 73 N>T No ExAC
gnomAD
rs893312330 78 H>R No TOPMed
gnomAD
rs748931000 82 D>G No ExAC
TOPMed
gnomAD
rs747305401 84 A>T No ExAC
TOPMed
gnomAD
rs2033454078 86 V>A No TOPMed
rs2033454170 86 V>M No Ensembl
rs1191752557 89 G>D No gnomAD
rs1422682902 89 G>S No TOPMed
gnomAD
rs753186540
COSM1163146
COSM1163145
 90 R>Q pancreas [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1481564048 90 R>W No TOPMed
gnomAD
rs2033453337 91 R>C No gnomAD
rs2150847517 91 R>H No Ensembl
rs755072826 94 N>I No ExAC
gnomAD
COSM3515669
COSM3515668
 95 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2033452832 99 V>D No TOPMed
rs1199861356 100 H>Y No gnomAD
rs1128913 104 S>L No Ensembl
rs1391199215 106 F>I No TOPMed
gnomAD
rs1411951014 106 F>L No TOPMed
gnomAD
rs750710152 108 R>T No ExAC
gnomAD
rs1319603993 112 Q>* No gnomAD
COSM436283
COSM436282
 112 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3889467
COSM3889466
 121 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751382038 122 C>F No ExAC
gnomAD
rs922868510 123 R>Q No gnomAD
rs2033446646 123 R>W No Ensembl
rs972938148 124 D>N No Ensembl
rs2150847156 125 D>N No Ensembl
rs961549292 127 G>A No TOPMed
gnomAD
COSM417620
COSM417619
 127 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763868609 128 V>I No ExAC
gnomAD
rs769335009 130 A>T No ExAC
TOPMed
gnomAD
rs2033445114 131 K>N No TOPMed
rs2033444936 132 D>V No Ensembl
COSM977206
COSM977205
 132 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM356043
rs759184199
COSM356042
 135 K>R lung [Cosmic] No cosmic curated
ExAC
gnomAD
rs1477315915 138 H>R No gnomAD
rs1033346029 140 S>G No TOPMed
rs1223210514 140 S>I No gnomAD
rs369143228 141 V>M No ESP
TOPMed
gnomAD
rs889591923 142 R>Q No gnomAD
rs1319706834 142 R>W No TOPMed
gnomAD
rs2033418060 148 T>S No TOPMed
rs1042597538 151 R>C No TOPMed
rs770434832 151 R>L No ExAC
gnomAD
TCGA novel 154 S>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1401444710 156 G>D No gnomAD
rs1170498770 157 A>V No gnomAD
rs2033417004 158 Q>H No gnomAD
rs371785841 160 N>K No ESP
ExAC
gnomAD
rs2033416608 165 E>G No gnomAD
COSM1302586
COSM1302585
 165 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1291103070 170 P>A No TOPMed
gnomAD
rs1291103070 170 P>S No TOPMed
gnomAD
rs376446714 171 L>V No ESP
ExAC
gnomAD
rs200538739 172 H>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1459087877 173 V>M No gnomAD
rs1294288120 175 A>G No Ensembl
rs1238544920 177 A>G No gnomAD
rs752504727 178 G>E No ExAC
gnomAD
rs1197716165 178 G>R No gnomAD
rs754977925 183 A>G No ExAC
TOPMed
gnomAD
TCGA novel 183 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1449649255 184 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1449649255 184 E>Q No gnomAD
rs760217771 187 V>I No ExAC
TOPMed
gnomAD
rs760217771 187 V>L No ExAC
TOPMed
gnomAD
rs2033414327 188 V>A No TOPMed
gnomAD
rs935946270 189 Y>C No TOPMed
rs1444948501 190 G>E No gnomAD
rs1262477085 194 G>C No TOPMed
rs1423847500 195 S>F No gnomAD
rs1441014839 196 P>L No gnomAD
rs1567774089 196 P>S No TOPMed
rs770383438 197 D>N No ExAC
gnomAD
rs371809280 198 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771110648 200 G>S No ExAC
gnomAD
rs367937603 201 R>C No ESP
ExAC
TOPMed
gnomAD
rs777916212 201 R>H No ExAC
TOPMed
gnomAD
rs758625895 202 T>I No ExAC
gnomAD
rs747900408 203 P>S No ExAC
gnomAD
TCGA novel 204 I>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778705548 204 I>T No ExAC
gnomAD
rs2033411771 204 I>V No TOPMed
rs754853321 205 D>E No ExAC
TOPMed
gnomAD
rs2033411566 205 D>N No Ensembl
rs1381752902 206 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1303858811 207 A>G No gnomAD
rs1303858811 207 A>V No gnomAD
rs2033411222 208 R>W No Ensembl
rs779980624 210 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2150844564 211 G>E No 1000Genomes
rs756007431 212 H>Y No ExAC
TOPMed
gnomAD
rs1024021561 213 H>Q No Ensembl
rs142888320 213 H>R No ESP
rs1489507802 213 H>Y No gnomAD
rs780870035 216 A>V No ExAC
gnomAD
rs370357233 220 V>A No ESP
ExAC
TOPMed
gnomAD
rs141028367 223 Q>L No ESP
ExAC
TOPMed
gnomAD
rs1457377796 224 Y>C No gnomAD
rs1172624999 227 T>S No gnomAD
rs1598573882 228 D>A No Ensembl
rs1000500862 229 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1444616024 229 R>W No TOPMed
gnomAD
rs773256227 231 A>G No ExAC
gnomAD
rs1423098352 231 A>T No gnomAD
rs773256227 231 A>V No ExAC
gnomAD
rs1434931610 237 R>C No gnomAD
rs772182991 237 R>H No ExAC
TOPMed
gnomAD
rs2033402664 238 K>T No gnomAD
rs2033402566 239 P>L No TOPMed
rs2033389831 242 K>N No Ensembl
rs1310862800 243 N>K No TOPMed
gnomAD
rs761142321 244 G>E No ExAC
gnomAD
rs761142321 244 G>V No ExAC
gnomAD
rs750998521 247 I>V No ExAC
gnomAD
rs761818913 250 Q>P No ExAC
gnomAD
rs2033388922 252 A>D No Ensembl
rs774295784 252 A>S No ExAC
gnomAD
rs763103915 254 S>N No ExAC
TOPMed
gnomAD
rs373562431 258 S>P No ESP
ExAC
TOPMed
gnomAD
rs773085230
COSM183859
 259 E>K Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773085230 259 E>Q No ExAC
TOPMed
gnomAD
rs1452162719 262 K>R No TOPMed
gnomAD
rs1452162719 262 K>T No TOPMed
gnomAD
rs1567771765 265 K>M No Ensembl
rs2033300198 267 K>M No TOPMed
rs2033300305 267 K>Q No TOPMed
COSM6146334
COSM6146333
 269 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2033299988 269 Q>R No TOPMed
rs772063548 270 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2033284864 273 N>I No TOPMed
rs747296151 274 R>G No ExAC
TOPMed
gnomAD
COSM1381852
COSM1381853
rs374787973
 274 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
rs747296151 274 R>W No ExAC
TOPMed
gnomAD
rs778222194 279 L>V No ExAC
gnomAD
rs748703067 280 A>T No ExAC
TOPMed
gnomAD
rs779128622 281 M>V No ExAC
gnomAD
rs372379075 283 V>M No ESP
ExAC
TOPMed
gnomAD
TCGA novel 285 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs756394121 287 V>M No ExAC
TOPMed
gnomAD
rs2033283008 289 R>Q No Ensembl
rs767397404 290 R>K No ExAC
gnomAD
rs767397404 290 R>T No ExAC
gnomAD
TCGA novel 291 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM977202
COSM977201
 292 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2033263679 297 L>P No Ensembl
rs1403815774 303 S>G No TOPMed
rs1598568355 305 L>P No Ensembl
rs774883792 306 V>L No ExAC
gnomAD
rs1429171461 308 E>G No TOPMed
gnomAD
rs750308870 308 E>Q No Ensembl
rs749863713 309 R>C No ExAC
gnomAD
rs368918039 309 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1020449626 310 S>N No Ensembl
rs769984764 311 A>V No ExAC
TOPMed
gnomAD
rs781418330 312 V>M No ExAC
gnomAD
rs1053442825 318 N>S No Ensembl
rs2033261547 318 N>Y No gnomAD
rs2033261362 319 P>R No TOPMed
TCGA novel 323 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs746766343 324 T>M No ExAC
gnomAD
rs2033260935 324 T>P No Ensembl
TCGA novel 325 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2033260523 325 R>Q No TOPMed
COSM3515665
COSM3515664
 327 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764542510 329 R>* No ExAC
TOPMed
gnomAD
rs753010418 334 R>H No ExAC
gnomAD
rs1239441366 337 A>V No gnomAD
TCGA novel 338 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs375532278 341 A>V No ESP
ExAC
TOPMed
gnomAD
rs372287329 343 L>F No ESP
gnomAD
rs1194997301 343 L>S No TOPMed
rs776741777 344 I>M No ExAC
gnomAD
rs759982982 344 I>V No ExAC
TOPMed
gnomAD
rs2033240901 347 I>L No TOPMed
rs2033240901 347 I>V No TOPMed
rs1432944112 348 L>V No gnomAD
rs1483793669 349 S>R No TOPMed
rs760872380 352 K>N No ExAC
TOPMed
gnomAD
rs747932714 353 R>Q No ExAC
TOPMed
gnomAD
rs202085570 353 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370531367 358 K>E No ESP
ExAC
TOPMed
gnomAD
rs1171453871 359 S>N No Ensembl
rs749227660 361 S>C No ExAC
gnomAD
rs2150829993 361 S>R No Ensembl
rs1018333380 362 S>G No TOPMed
rs1186534075 362 S>R No TOPMed
gnomAD
rs2033239407 363 P>L No TOPMed
gnomAD
rs1263715815 364 T>A No gnomAD
rs1205688642 364 T>I No TOPMed
gnomAD
rs1205688642 364 T>K No TOPMed
gnomAD
TCGA novel 366 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs760678265 367 L>F No ExAC
TOPMed
gnomAD
rs760678265 367 L>I No ExAC
TOPMed
gnomAD
rs773309128 367 L>P No ExAC
TOPMed
gnomAD
rs767726313 368 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2033231547 370 S>C No gnomAD
rs761987348 370 S>P No ExAC
gnomAD
rs749237619 372 R>Q No ExAC
gnomAD
rs867941189 372 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1324780187 374 Q>* No gnomAD
COSM1242311
rs745333746
COSM1242310
 374 Q>H oesophagus [Cosmic] No cosmic curated
ExAC
gnomAD
TCGA novel 374 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs769861158 374 Q>P No ExAC
gnomAD
rs1474800604 376 D>E No TOPMed
gnomAD
rs780871975 376 D>N No ExAC
gnomAD
rs746705525 378 D>N No ExAC
gnomAD
rs1252210302 379 D>N No TOPMed
gnomAD
TCGA novel 382 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 383 Y>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1349299212 383 Y>D No TOPMed
rs1273994622 384 D>N No TOPMed
gnomAD
rs1157934035 385 S>I No TOPMed
gnomAD
rs1157934035 385 S>N No TOPMed
gnomAD
rs1157934035 385 S>T No TOPMed
gnomAD
rs766828202 386 V>M No ExAC
TOPMed
gnomAD
TCGA novel 389 D>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1252688812 389 D>N No gnomAD
rs1235733839 390 E>K No gnomAD
rs563422010 393 D>E No 1000Genomes
ExAC
gnomAD
rs1444820228 394 Q>* No gnomAD
rs2033228354 394 Q>R No TOPMed
gnomAD
rs2033228255 395 E>K No Ensembl
rs767530609 396 P>A No ExAC
TOPMed
gnomAD
rs767530609 396 P>T No ExAC
TOPMed
gnomAD
rs2033227762 397 L>Q No TOPMed
rs753551521 398 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs753551521 398 R>G No ExAC
TOPMed
gnomAD
rs1435341997 398 R>H No TOPMed
gnomAD
rs1394411603 399 S>N No gnomAD
rs2033227205 399 S>R No Ensembl
rs764391897 399 S>R No ExAC
gnomAD
rs1181409647 401 G>D No gnomAD
rs190976550 401 G>S No 1000Genomes
TOPMed
gnomAD
rs769808064 402 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1347707615 404 R>Q No gnomAD
rs1212218149 404 R>W No gnomAD
rs1278829308 405 S>N No gnomAD
rs2033225106 406 N>I No TOPMed
gnomAD
rs1379468390 407 R>Q No TOPMed
gnomAD
rs2033224779 407 R>W No TOPMed
COSM123363
rs1441086742
 409 R>Q upper_aerodigestive_tract [Cosmic] No cosmic curated
gnomAD
rs745850448 409 R>W No ExAC
TOPMed
gnomAD
rs531564696 411 M>V No ExAC
TOPMed
gnomAD
rs1242062247 413 S>F No TOPMed
gnomAD
rs568904145 414 S>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs747834683 417 S>T No ExAC
TOPMed
gnomAD
rs199698909 418 D>E No ESP
ExAC
TOPMed
gnomAD
rs1309437721 418 D>V No TOPMed
gnomAD
rs569157701 419 G>R No ExAC
TOPMed
gnomAD
rs376860718 422 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1396458647 425 E>K No TOPMed
gnomAD
rs1396458647 425 E>Q No TOPMed
gnomAD
rs769868883 428 E>D No TOPMed
gnomAD
rs1172553215 430 K>R No TOPMed
gnomAD
rs758663323 431 K>E No ExAC
TOPMed
gnomAD
rs753036623 431 K>R No ExAC
TOPMed
gnomAD
rs753036623 431 K>T No ExAC
TOPMed
gnomAD
rs1455837586 432 A>D No gnomAD
rs911417391 434 A>G No TOPMed
TCGA novel 434 A>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM977199
COSM977200
 434 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 435 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2033212608 436 S>L No TOPMed
rs1263326347 437 E>D No gnomAD
rs2033212384 437 E>K No TOPMed
rs766175849 439 K>E No ExAC
gnomAD
rs550609245 439 K>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1598566058 440 V>G No Ensembl
rs1296741501 440 V>L No gnomAD
rs1449822362 441 Q>R No TOPMed
gnomAD
rs1372887268 443 L>F No TOPMed
gnomAD
rs771633165 444 M>I No ExAC
gnomAD
rs1598566024 444 M>L No Ensembl
rs1303963166 444 M>T No gnomAD
rs2033211076 445 K>T No TOPMed
rs891837274 448 S>G No TOPMed
gnomAD
COSM4129802
rs1164795361
COSM4129803
 449 S>I thyroid [Cosmic] No cosmic curated
TOPMed
rs1190242191 450 L>P No gnomAD
rs1262988549 452 D>G No gnomAD
rs768304367 452 D>H No ExAC
TOPMed
gnomAD
rs768304367 452 D>N No ExAC
TOPMed
gnomAD
rs768304367 452 D>Y No ExAC
TOPMed
gnomAD
TCGA novel 453 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2033209716 453 E>K No TOPMed
rs201563816 455 R>Q No ExAC
TOPMed
gnomAD
rs538711253 455 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
rs777996942 456 R>K No ExAC
gnomAD
rs1264777225 459 R>G No gnomAD
rs748242947 459 R>L No ExAC
TOPMed
gnomAD
rs748242947 459 R>Q No ExAC
TOPMed
gnomAD
rs374907213 460 E>G No ESP
ExAC
gnomAD
rs2033204927 461 I>M No TOPMed
rs773786568 462 H>D No ExAC
gnomAD
rs772734909 462 H>Q No ExAC
gnomAD
rs1371353324 464 L>M No TOPMed
gnomAD
rs1371353324 464 L>V No TOPMed
gnomAD
rs748189816 466 A>V No ExAC
TOPMed
gnomAD
rs1567769502 468 N>T No TOPMed
rs1262344415 470 Q>E No gnomAD
rs755120148 470 Q>H No ExAC
gnomAD
rs2033203711 470 Q>R No Ensembl
rs1598565643 471 L>P No Ensembl
rs2033203452 471 L>V No gnomAD
rs150427746 472 R>Q No ESP
ExAC
TOPMed
gnomAD
rs749589787 472 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1235167694 475 P>A No TOPMed
gnomAD
rs984470630 476 G>R No Ensembl
rs1441597658 477 P>A No TOPMed
gnomAD
rs755883234 477 P>L No ExAC
TOPMed
gnomAD
rs746865641 478 V>A No ExAC
gnomAD
rs768332520 478 V>M No Ensembl
rs2033201946 479 P>L No TOPMed
rs1210440879 481 P>S No TOPMed
gnomAD
rs911378975 482 P>L No TOPMed
gnomAD
rs200191554 483 L>F No ExAC
TOPMed
gnomAD
rs763635641 484 P>H No ExAC
TOPMed
gnomAD
rs763635641 484 P>R No ExAC
TOPMed
gnomAD
rs200962041 485 S>G No 1000Genomes
rs2150826793 485 S>T No Ensembl
rs775272061 487 R>Q No ExAC
TOPMed
gnomAD
rs762510669 487 R>W No ExAC
TOPMed
gnomAD
rs563309641 488 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs147918419 488 A>V No ESP
ExAC
TOPMed
gnomAD
rs772683769 489 E>G No ExAC
gnomAD
rs1415390794 489 E>Q No TOPMed
gnomAD
rs1205454688 490 H>R No gnomAD
rs1464295826 491 T>A No gnomAD
rs2033200172 491 T>I No TOPMed
gnomAD
rs762446004 492 P>L No ExAC
gnomAD
rs2033200076 492 P>S No TOPMed
rs11548561 493 M>I No Ensembl
rs1215838594 493 M>K No gnomAD
rs1335529772 494 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs147741808 497 G>A No ESP
ExAC
TOPMed
gnomAD
rs1005293568 497 G>R No TOPMed
gnomAD
rs2033198652 498 S>N No gnomAD
rs1000175695 499 T>A No gnomAD
rs1230193135 500 H>N No TOPMed
rs769942743 501 R>C No ExAC
TOPMed
gnomAD
rs745617920 501 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs769942743 501 R>S No ExAC
TOPMed
gnomAD
rs1462754291 502 R>K No gnomAD
rs2033197593
COSM3515662
COSM3515663
 504 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
COSM1285159
COSM1285160
rs889769504
 504 R>H Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1391014546 506 A>V No TOPMed
gnomAD
rs2150826481 509 M>R No Ensembl
rs78929399 510 Y>S No Ensembl
rs781016786 512 P>A No ExAC
gnomAD
rs1471537920 512 P>H No TOPMed
gnomAD
rs1471537920 512 P>L No TOPMed
gnomAD
rs1471537920 512 P>R No TOPMed
gnomAD
rs142990947 514 S>C No ESP
ExAC
TOPMed
gnomAD
TCGA novel 515 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1189183930 516 L>P No gnomAD
rs1487881245 517 K>N No TOPMed
gnomAD
rs1715870666 518 P>S No TOPMed
gnomAD
rs757867944 519 F>S No ExAC
TOPMed
gnomAD
rs1567769206 520 G>E No Ensembl
COSM5745330
COSM5745331
 521 G>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1037614240 521 G>V No gnomAD
rs759160468 522 P>H No ExAC
gnomAD
rs1208086729 522 P>S No gnomAD
rs1228387086 523 P>A No gnomAD
TCGA novel 523 P>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1174618382 523 P>L No TOPMed
gnomAD
rs769051742 526 E>K No ExAC
gnomAD
rs769051742 526 E>Q No ExAC
gnomAD
rs763051659 527 L>F No ExAC
TOPMed
gnomAD
rs2150826168 527 L>P No Ensembl
rs763051659 527 L>V No ExAC
TOPMed
gnomAD
rs2033194022 528 T>I No Ensembl
rs775458461 529 T>A No ExAC
gnomAD
COSM977197
COSM977198
rs559836080
 529 T>M Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780961355 530 R>G No ExAC
gnomAD
rs891785021 530 R>Q No TOPMed
gnomAD
rs780961355 530 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs770772520 531 L>P No ExAC
TOPMed
gnomAD
rs770772520 531 L>R No ExAC
TOPMed
gnomAD
rs746821383 532 Q>P No ExAC
gnomAD
rs752228476 533 P>L No ExAC
TOPMed
gnomAD
rs758288314 533 P>S No ExAC
TOPMed
gnomAD
rs758288314 533 P>T No ExAC
TOPMed
gnomAD
rs951722263 535 H>Y No Ensembl
rs374759955 536 S>G No ESP
ExAC
TOPMed
gnomAD
TCGA novel 536 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs753598369 537 T>I No ExAC
TOPMed
gnomAD
rs753598369 537 T>S No ExAC
TOPMed
gnomAD
rs959123153 538 E>K No TOPMed
rs959123153 538 E>Q No TOPMed
rs1402258592 540 E>Q No TOPMed
gnomAD
rs2033186755 541 D>N No Ensembl
rs374985717 542 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374985717 542 D>Y No ESP
ExAC
TOPMed
gnomAD
COSM4065187
rs1166333111
COSM4065186
 543 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs773055179 544 I>F No ExAC
TOPMed
gnomAD
COSM977196
COSM977195
 544 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771817258 544 I>M No ExAC
TOPMed
gnomAD
rs773055179 544 I>V No ExAC
TOPMed
gnomAD
rs981901575 548 H>Y No TOPMed
gnomAD
rs748760392 549 V>F No ExAC
TOPMed
gnomAD
rs748760392 549 V>I No ExAC
TOPMed
gnomAD
rs748760392 549 V>L No ExAC
TOPMed
gnomAD
rs1000227959 550 P>A No TOPMed
gnomAD
rs779763363 550 P>R No ExAC
gnomAD
rs1000227959 550 P>T No TOPMed
gnomAD
rs370390461 551 A>T No ESP
ExAC
TOPMed
gnomAD
rs745577793 554 Y>H No ExAC
TOPMed
gnomAD
rs149260772 555 R>Q No ESP
TOPMed
gnomAD
COSM1208200
rs1314162149
COSM1208201
 555 R>W large_intestine [Cosmic] No cosmic curated
TOPMed
gnomAD
rs372896559 557 R>Q No ESP
ExAC
gnomAD
rs762146014 557 R>W No ExAC
TOPMed
gnomAD
rs2033177097 558 K>R No TOPMed
rs1327119077 559 G>R No gnomAD
rs1225849331 559 G>V No gnomAD
rs2033176438 560 V>G No TOPMed
rs764051634 560 V>L No ExAC
gnomAD
rs764051634 560 V>M No ExAC
gnomAD
rs1302216816 561 S>T No gnomAD
rs762974646 562 A>V No ExAC
gnomAD
rs199820269 563 S>L No 1000Genomes
COSM977194
COSM977193
 565 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1309870186 565 V>M No gnomAD
rs2033175800 566 P>S No TOPMed
rs769775991 567 F>S No ExAC
TOPMed
gnomAD
rs1306766085 569 P>H No TOPMed
gnomAD
rs758929748 570 S>A No ExAC
TOPMed
gnomAD
rs776228670 571 S>Y No ExAC
TOPMed
gnomAD
rs763846891
COSM183857
 572 P>L Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763846891 572 P>Q No ExAC
TOPMed
gnomAD
rs1183647314 573 L>P No gnomAD
rs1183647314 573 L>R No gnomAD
rs2033174241 574 L>P No TOPMed
rs1250946654 576 C>Y No TOPMed
gnomAD
rs910138643 577 S>F No TOPMed
rs1377878194 577 S>T No TOPMed
gnomAD
rs780495303 578 Q>L No ExAC
gnomAD
rs780495303 578 Q>R No ExAC
gnomAD
rs745368172 579 E>D No Ensembl
rs1598564124 579 E>G No Ensembl
rs1256304192 580 G>E No TOPMed
gnomAD
rs1598564100 581 S>N No TOPMed
rs756664190 581 S>R No ExAC
TOPMed
gnomAD
rs1310393122 581 S>R No TOPMed
rs1598564100 581 S>T No TOPMed
rs1310615589 582 R>C No gnomAD
rs750445419
COSM3691343
COSM3691342
 582 R>H large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs2150824138 583 H>Q No Ensembl
rs755275423 584 T>M No ExAC
TOPMed
gnomAD
rs755275423 584 T>R No ExAC
TOPMed
gnomAD
rs765144857 585 S>N No ExAC
gnomAD
rs754857303 588 S>F No ExAC
TOPMed
gnomAD
rs2150823634 588 S>T No Ensembl
rs754857303 588 S>Y No ExAC
TOPMed
gnomAD
rs753751031 589 R>C No ExAC
TOPMed
gnomAD
rs149623045 589 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772727654 591 G>S No ExAC
TOPMed
gnomAD
rs1243321618 592 S>N No gnomAD
rs761491608 595 D>N No ExAC
TOPMed
gnomAD
rs2090240233 596 S>G No Ensembl
rs1028315192 597 D>A No TOPMed
rs2150823512 597 D>N No Ensembl
TCGA novel
rs1315835874
 599 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No gnomAD
NCI-TCGA
rs998211945 599 E>K No TOPMed
gnomAD
rs2033165818 601 T>A No TOPMed
rs775716001 601 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1162587843 602 Q>R No gnomAD
rs2033165326 608 L>M No gnomAD
rs2033158278 612 G>E No TOPMed
rs2033158356 612 G>R No Ensembl
rs371029193 613 K>R No ESP
ExAC
TOPMed
gnomAD
rs371029193 613 K>T No ESP
ExAC
TOPMed
gnomAD
rs779151496 614 R>K No ExAC
TOPMed
gnomAD
rs1440168411 619 G>S No Ensembl
COSM4686986
COSM4686987
 620 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1482277920 620 K>R No TOPMed
gnomAD
rs527796101 621 E>K No Ensembl
rs780557558 623 D>E No Ensembl
rs1171137308 624 F>L No TOPMed
rs1052795375 625 H>Y No TOPMed
rs1201406092 627 E>Q No TOPMed
gnomAD
rs773724411 628 L>V No ExAC
gnomAD
rs2033155955 630 S>T No Ensembl
rs2033155487 632 D>G No Ensembl
rs2033155638 632 D>Y No TOPMed
rs779863155 633 G>R No ExAC
gnomAD
rs2033154993 636 D>H No gnomAD
rs2033154771 637 P>L No TOPMed
rs1294328663 637 P>S No gnomAD
TCGA novel 641 S>H Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1415300045 642 T>I No TOPMed
rs113292283 646 I>T No Ensembl
rs1028262975 647 L>S No TOPMed
gnomAD
rs781122630 654 K>N No ExAC
TOPMed
gnomAD
rs750419618 654 K>R No ExAC
gnomAD
rs139867434 657 Q>E No ESP
ExAC
TOPMed
gnomAD
COSM977192
rs1414857074
COSM977191
 659 L>M Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs925891052 661 R>Q No TOPMed
gnomAD
COSM4598507
COSM4598506
 661 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs542847680 665 E>D No 1000Genomes
ExAC
gnomAD
rs2033151398 667 K>Q No Ensembl
rs2033151260 668 H>D No Ensembl
rs766906155 669 D>E No ExAC
TOPMed
gnomAD
rs145991218 672 V>L No ESP
ExAC
TOPMed
gnomAD
rs145991218 672 V>M No ESP
ExAC
TOPMed
gnomAD
rs770873627 676 E>K No ExAC
gnomAD
rs1383937496 683 T>I No gnomAD
rs1450513540
COSM3712227
COSM3712226
 684 E>K upper_aerodigestive_tract [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1450513540 684 E>Q No TOPMed
gnomAD
rs747688544 686 A>V No ExAC
gnomAD
rs778656081 690 P>L No ExAC
TOPMed
gnomAD
rs952670551 690 P>S No Ensembl
rs1204026850 692 R>M No gnomAD
rs2033132125 694 A>T No TOPMed
rs1598562067 695 L>R No Ensembl
rs1468906897 697 P>L No gnomAD
rs1160679170 699 R>Q No TOPMed
gnomAD
rs1403460266 699 R>W No TOPMed
gnomAD
rs2033130349 703 R>Q No TOPMed
rs1363128714 703 R>W No TOPMed
gnomAD
rs1425331567 706 N>D No gnomAD
rs1256511398 706 N>S No gnomAD
COSM3819189
rs758906145
COSM3819190
 707 A>T Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375882746 710 Y>C No ExAC
TOPMed
gnomAD
rs375882746 710 Y>F No ExAC
TOPMed
gnomAD
rs755007238 711 R>Q No ExAC
gnomAD
TCGA novel 714 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM977189
rs903621709
COSM977190
 717 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs142576554 717 R>W No ESP
ExAC
TOPMed
gnomAD
rs2033127510 719 T>I No TOPMed
rs969674531 721 P>H No gnomAD
rs969674531 721 P>L No gnomAD
rs1383699359 721 P>S No gnomAD
COSM705753
COSM705752
 722 P>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2033126935 722 P>S No TOPMed
rs2033126596 723 E>Q No Ensembl
rs761711973 724 P>S No ExAC
gnomAD
rs764160074 725 G>S No ExAC
TOPMed
gnomAD
TCGA novel 726 A>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs775115811 726 A>T No ExAC
TOPMed
gnomAD
rs769301186 726 A>V No ExAC
TOPMed
gnomAD
rs1598561830 729 D>A No Ensembl
rs1211730947 730 F>L No gnomAD
rs773439194 730 F>V No ExAC
gnomAD
rs2033125354 733 L>V No Ensembl
rs992357234 734 T>P No TOPMed
rs992357234 734 T>S No TOPMed
rs772368684 737 V>M No ExAC
gnomAD
rs1598561783 739 Q>P No Ensembl
rs1244201092 740 C>R No TOPMed
gnomAD
rs2033124415 740 C>Y No TOPMed
rs1480243231 741 A>T No TOPMed
COSM4065185
rs975963915
COSM4065184
 745 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs1325503504 747 A>T No gnomAD
rs1567767244 748 A>T No Ensembl
rs2033123196 753 T>A No Ensembl
rs199846495 754 I>T No 1000Genomes
rs780245639 754 I>V No ExAC
gnomAD
rs756276213 760 K>Q No ExAC
TOPMed
gnomAD
rs2033122506 761 Q>* No Ensembl

No associated diseases with Q9Y2X7

6 regional properties for Q9Y2X7

Type Name Position InterPro Accession
domain Arf GTPase activating protein 1 - 124 IPR001164
repeat Ankyrin repeat 132 - 228 IPR002110
domain GIT, Spa2 homology (SHD) domain 264 - 294 IPR013724-1
domain GIT, Spa2 homology (SHD) domain 328 - 358 IPR013724-2
domain ARF GTPase-activating protein GIT1, C-terminal 643 - 755 IPR022018
domain Arf GTPase-activating protein GIT1/2, coiled-coil domain 409 - 473 IPR032352

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Synapse
  • Presynapse
  • Postsynapse
  • Postsynaptic density
  • Cell junction, focal adhesion
  • Cell projection, lamellipodium
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Cytoplasm, cytoskeleton, spindle pole
  • Cycles between at least 3 distinct intracellular compartments, including focal adhesions, cytosolic complexes, containing at least PXN/paxillin, ARHGEF7 and PAK1, and membrane protrusions
  • During cell migration, moves from the disassembling adhesions into the cytosol and towards the leading edge
  • In adherent cells, localizes to adhesions
  • Recruitment to adhesions may be mediated by RAC and active tyrosine-phosphorylated PXN (PubMed:11896197)
  • May be present in both excitatory and inhibitory synapses
  • In hippocampal neurons, recruitment of GIT1 to synapses is regulated by ephrinB activation and ephrinB downstream effector GRB4/NCK2
  • In hippocampal neurons, partially colocalizes with PCLO (By similarity)
  • Interaction with GRIN3A limits GIT1 synaptic localization (By similarity)
  • Localization to the centrosome does not depend upon the presence of gamma-tubulin (PubMed:27012601)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

12 GO annotations of cellular component

Name Definition
calyx of Held The terminal specialization of a calyciferous axon which forms large synapses in the mammalian auditory central nervous system.
centrosome A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
mitotic spindle pole Either of the ends of a mitotic spindle, a spindle that forms as part of mitosis, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
postsynapse The part of a synapse that is part of the post-synaptic cell.
postsynaptic density An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

5 GO annotations of molecular function

Name Definition
gamma-tubulin binding Binding to the microtubule constituent protein gamma-tubulin.
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
metal ion binding Binding to a metal ion.
protein-containing complex binding Binding to a macromolecular complex.
small GTPase binding Binding to a small monomeric GTPase.

18 GO annotations of biological process

Name Definition
brain development The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
cell redox homeostasis Any process that maintains the redox environment of a cell or compartment within a cell.
cellular response to lipopolysaccharide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
ephrin receptor signaling pathway The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
intramembranous ossification Direct ossification that occurs within mesenchyme or an accumulation of relatively unspecialized cells.
locomotory behavior The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions.
motor learning Any process in which an organism acquires a novel neuromuscular action or movement as the result of experience.
negative regulation of glycolytic process Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis.
negative regulation of inflammatory response to wounding Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response to wounding.
negative regulation of interleukin-1 beta production Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-1 beta production.
neuron development The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.
positive regulation of microtubule nucleation Any process that increases the rate, frequency or extent of microtubule nucleation. Microtubule nucleation is the 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates, some of which go on to support formation of a complete microtubule. Microtubule nucleation usually occurs from a specific site within a cell.
presynaptic modulation of chemical synaptic transmission Any process, acting in the presynapse that results in modulation of chemical synaptic transmission.
regulation of ARF protein signal transduction Any process that modulates the frequency, rate or extent of ARF protein signal transduction.
regulation of cytokinesis Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells.
regulation of G protein-coupled receptor signaling pathway Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway.
regulation of synaptic vesicle exocytosis Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis.
synaptic vesicle recycling The trafficking of synaptic vesicles from the pre-synaptic membrane so the vesicle can dock and prime for another round of exocytosis and neurotransmitter release. Recycling occurs after synaptic vesicle exocytosis, and is necessary to replenish presynaptic vesicle pools, sustain transmitter release and preserve the structural integrity of the presynaptic membrane. Recycling can occur following transient fusion with the presynaptic membrane (kiss and run), or via endocytosis of presynaptic membrane.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9DG15 p95-APP1 Gallus gallus (Chicken) EV
Q95RG8 Git ARF GTPase-activating protein Git Drosophila melanogaster (Fruit fly) SS
Q14161 GIT2 ARF GTPase-activating protein GIT2 Homo sapiens (Human) SS
Q9JLQ2 Git2 ARF GTPase-activating protein GIT2 Mus musculus (Mouse) SS
Q68FF6 Git1 ARF GTPase-activating protein GIT1 Mus musculus (Mouse) SS
Q66H91 Git2 ARF GTPase-activating protein GIT2 Rattus norvegicus (Rat) SS
Q9Z272 Git1 ARF GTPase-activating protein GIT1 Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MSRKGPRAEV CADCSAPDPG WASISRGVLV CDECCSVHRS LGRHISIVKH LRHSAWPPTL
70 80 90 100 110 120
LQMVHTLASN GANSIWEHSL LDPAQVQSGR RKANPQDKVH PIKSEFIRAK YQMLAFVHKL
130 140 150 160 170 180
PCRDDDGVTA KDLSKQLHSS VRTGNLETCL RLLSLGAQAN FFHPEKGTTP LHVAAKAGQT
190 200 210 220 230 240
LQAELLVVYG ADPGSPDVNG RTPIDYARQA GHHELAERLV ECQYELTDRL AFYLCGRKPD
250 260 270 280 290 300
HKNGHYIIPQ MADSLDLSEL AKAAKKKLQA LSNRLFEELA MDVYDEVDRR ENDAVWLATQ
310 320 330 340 350 360
NHSTLVTERS AVPFLPVNPE YSATRNQGRQ KLARFNAREF ATLIIDILSE AKRRQQGKSL
370 380 390 400 410 420
SSPTDNLELS LRSQSDLDDQ HDYDSVASDE DTDQEPLRST GATRSNRARS MDSSDLSDGA
430 440 450 460 470 480
VTLQEYLELK KALATSEAKV QQLMKVNSSL SDELRRLQRE IHKLQAENLQ LRQPPGPVPT
490 500 510 520 530 540
PPLPSERAEH TPMAPGGSTH RRDRQAFSMY EPGSALKPFG GPPGDELTTR LQPFHSTELE
550 560 570 580 590 600
DDAIYSVHVP AGLYRIRKGV SASAVPFTPS SPLLSCSQEG SRHTSKLSRH GSGADSDYEN
610 620 630 640 650 660
TQSGDPLLGL EGKRFLELGK EEDFHPELES LDGDLDPGLP STEDVILKTE QVTKNIQELL
670 680 690 700 710 720
RAAQEFKHDS FVPCSEKIHL AVTEMASLFP KRPALEPVRS SLRLLNASAY RLQSECRKTV
730 740 750 760
PPEPGAPVDF QLLTQQVIQC AYDIAKAAKQ LVTITTREKK Q