Q9UKS6
SS
Gene name |
PACSIN3 |
Protein name |
Protein kinase C and casein kinase substrate in neurons protein 3 |
Names |
SH3 domain-containing protein 6511 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:29763 |
EC number |
|
Protein Class |
|
Descriptions
The F-BAR domain-containing protein PACSIN contributes to vesicle formation at the plasma membrane and induces a spectrum of membrane morphologies including tubules and tubular constriction. Full-length PACSIN1 has reduced activity compared to the isolated F-BAR domain. Autoinhibition is mediated by the SH3 domain interacting with the F-BAR domain in PACSIN1. The SH3 domain is able to bind the proline-rich domain (PRD) of proteins in endocytosis. The autoinhibitory, intramolecular interactions can be released upon binding to the proline-rich domain (PRD) of dynamin-1, resulting in potent membrane deformation activity.
Autoinhibitory domains (AIDs)
Target domain |
16-273 (The F-BAR, FES-CIP4 Homology and Bin/Amphiphysin/Rvs, domain of Protein kinase C and Casein kinase Substrate in Neurons 1, PACSIN1) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Goh SL et al. (2012) "Versatile membrane deformation potential of activated pacsin", PloS one, 7, e51628
- Rao Y et al. (2010) "Molecular basis for SH3 domain regulation of F-BAR-mediated membrane deformation", Proceedings of the National Academy of Sciences of the United States of America, 107, 8213-8
- Senju Y et al. (2011) "Essential role of PACSIN2/syndapin-II in caveolae membrane sculpting", Journal of cell science, 124, 2032-40
- Wang Q et al. (2009) "Molecular mechanism of membrane constriction and tubulation mediated by the F-BAR protein Pacsin/Syndapin", Proceedings of the National Academy of Sciences of the United States of America, 106, 12700-5
- Shimada A et al. (2010) "Mapping of the basic amino-acid residues responsible for tubulation and cellular protrusion by the EFC/F-BAR domain of pacsin2/Syndapin II", FEBS letters, 584, 1111-8
- Plomann M et al. (2010) "A hinge in the distal end of the PACSIN 2 F-BAR domain may contribute to membrane-curvature sensing", Journal of molecular biology, 400, 129-36
Autoinhibited structure
Activated structure
1 structures for Q9UKS6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UKS6-F1 | Predicted | AlphaFoldDB |
488 variants for Q9UKS6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs113909496 | 2 | A>P | No |
ExAC gnomAD |
|
| rs113909496 | 2 | A>T | No |
ExAC gnomAD |
|
| rs1953051607 | 3 | P>S | No | TOPMed | |
| rs901380163 | 4 | E>A | No | Ensembl | |
| rs1042081287 | 5 | E>D | No |
TOPMed gnomAD |
|
| rs1396769565 | 5 | E>G | No | gnomAD | |
| rs749676389 | 6 | D>N | No |
ExAC gnomAD |
|
| rs146360819 | 7 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1199901033 | 9 | G>E | No | gnomAD | |
| rs374790048 | 9 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1283015346 | 10 | E>D | No | gnomAD | |
| rs1348689444 | 10 | E>V | No |
TOPMed gnomAD |
|
| rs1247860627 | 11 | A>P | No | Ensembl | |
| rs1759431022 | 11 | A>V | No | TOPMed | |
| rs1238594443 | 12 | L>V | No |
TOPMed gnomAD |
|
| rs889851202 | 14 | G>A | No |
TOPMed gnomAD |
|
| rs889851202 | 14 | G>D | No |
TOPMed gnomAD |
|
| rs767734028 | 14 | G>S | No | ExAC | |
| COSM1286948 | 17 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1565140790 | 19 | A>P | No | gnomAD | |
| rs751656794 | 21 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs766449112 | 21 | N>K | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 23 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs926397286 | 23 | R>S | No |
TOPMed gnomAD |
|
| rs142191658 | 24 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs763827628 | 24 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs763827628 | 24 | R>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 25 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760396236 | 25 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs968160177 | 27 | Q>H | No |
TOPMed gnomAD |
|
| rs376356554 | 28 | R>Q | No |
ESP TOPMed gnomAD |
|
| rs185936979 | 28 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1475145143 | 29 | V>A | No | gnomAD | |
| rs2135460240 | 29 | V>M | No | Ensembl | |
| rs1953046806 | 31 | D>N | No | gnomAD | |
| rs762541531 | 32 | G>R | No |
ExAC TOPMed gnomAD |
|
| COSM6068699 | 32 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772851730 | 33 | H>Y | No |
ExAC gnomAD |
|
| rs748580483 | 34 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs574904901 | 34 | R>W | No |
1000Genomes ExAC gnomAD |
|
| rs745589644 | 36 | C>* | No | gnomAD | |
| rs201913511 | 36 | C>G | No | Ensembl | |
| rs769326171 | 37 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1053574727 | 38 | D>Y | No |
TOPMed gnomAD |
|
| rs1590974622 | 39 | L>M | No | Ensembl | |
| rs1953045670 | 40 | V>I | No | TOPMed | |
| rs1462839268 | 41 | S>N | No | gnomAD | |
| rs1953045367 | 42 | C>G | No | Ensembl | |
| rs759292322 | 43 | F>I | No |
ExAC TOPMed gnomAD |
|
| rs759292322 | 43 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs145307845 | 44 | Q>* | No |
ESP gnomAD |
|
| rs145307845 | 44 | Q>E | No |
ESP gnomAD |
|
| rs779049324 | 46 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs757461009 | 46 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs757461009 | 46 | R>L | No |
ExAC TOPMed gnomAD |
|
|
rs199499148 COSM1354036 |
47 | A>T | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs1252983517 | 47 | A>V | No | gnomAD | |
| rs138367699 | 48 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs567457200 | 48 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA TOPMed gnomAD |
| rs567457200 | 48 | R>L | No |
1000Genomes TOPMed gnomAD |
|
| rs762462847 | 50 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs762462847 | 50 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs375932112 | 50 | E>V | No | ESP | |
| rs1307779505 | 52 | A>T | No | gnomAD | |
| rs1274457779 | 54 | A>V | No |
TOPMed gnomAD |
|
| rs1345575656 | 56 | Q>R | No | TOPMed | |
| COSM3447753 | 58 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1366760846 | 59 | D>E | No |
TOPMed gnomAD |
|
| rs1304109281 | 60 | W>* | No | gnomAD | |
| rs548709548 | 60 | W>G | No | 1000Genomes | |
| rs1442747406 | 61 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
VAR_053556 rs7106654 |
61 | A>V | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs919199703 | 62 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs147642333 | 62 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM927365 rs147642333 |
62 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372225317 TCGA novel |
63 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ESP TOPMed gnomAD |
| rs1953042917 | 64 | W>* | No | Ensembl | |
| rs367640067 | 65 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs780545729 | 65 | R>T | No |
ExAC gnomAD |
|
| rs1172599118 | 66 | G>R | No | gnomAD | |
| rs200483884 | 68 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs778963549 | 69 | E>G | No |
ExAC gnomAD |
|
| rs2135459859 | 71 | G>S | No | Ensembl | |
| rs1257599405 | 73 | Q>P | No | gnomAD | |
| TCGA novel | 73 | Q>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1260083945 | 75 | G>D | No | gnomAD | |
| rs1487258518 | 75 | G>S | No | gnomAD | |
| rs1953006115 | 76 | T>R | No | Ensembl | |
| rs774465626 | 81 | W>* | No |
ExAC TOPMed gnomAD |
|
| rs1023646321 | 82 | H>Q | No |
TOPMed gnomAD |
|
| rs770952417 | 82 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs749513800 | 83 | A>G | No |
ExAC gnomAD |
|
| rs749513800 | 83 | A>V | No |
ExAC gnomAD |
|
| rs777912098 | 86 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs779682600 | 87 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1337502913 | 88 | A>G | No |
TOPMed gnomAD |
|
| rs1953005185 | 89 | E>G | No | Ensembl | |
| rs1953005231 | 89 | E>K | No | gnomAD | |
| rs750335876 | 90 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs750335876 | 90 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs141863074 | 90 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1953004916 | 91 | L>P | No |
TOPMed gnomAD |
|
| rs1953004916 | 91 | L>Q | No |
TOPMed gnomAD |
|
| rs1953004877 | 92 | S>G | No | Ensembl | |
| rs756761571 | 93 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs935353858 | 93 | A>V | No |
TOPMed gnomAD |
|
| rs1205628044 | 95 | H>Y | No |
TOPMed gnomAD |
|
| rs537297848 | 96 | L>R | No | 1000Genomes | |
| rs1301813333 | 98 | V>A | No |
TOPMed gnomAD |
|
| rs1212901618 | 98 | V>M | No | gnomAD | |
| rs760112750 | 99 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs886602455 | 99 | R>W | No |
TOPMed gnomAD |
|
| rs1235171448 | 100 | E>K | No | gnomAD | |
| rs774802757 | 101 | K>N | No |
ExAC gnomAD |
|
| rs1295006096 | 103 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1364779423 | 104 | G>E | No |
TOPMed gnomAD |
|
| rs1383235070 | 104 | G>R | No | gnomAD | |
| rs771009434 | 106 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1953003548 | 106 | D>N | No |
TOPMed gnomAD |
|
| rs1953003548 | 106 | D>Y | No |
TOPMed gnomAD |
|
| rs1461258418 | 107 | S>G | No | gnomAD | |
| rs1461258418 | 107 | S>R | No | gnomAD | |
| rs116698581 | 108 | E>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1463781841 | 108 | E>D | No | gnomAD | |
| rs116698581 | 108 | E>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs192055353 | 108 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs750453776 | 109 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs779919469 | 109 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs779919469 | 109 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs750453776 | 109 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs765426634 | 110 | V>M | No |
TOPMed gnomAD |
|
| rs1265202348 | 111 | R>C | No |
TOPMed gnomAD |
|
| rs1265202348 | 111 | R>G | No |
TOPMed gnomAD |
|
| rs758087833 | 111 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs758087833 | 111 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs890231121 | 112 | A>G | No | TOPMed | |
| rs370534581 | 112 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs370534581 | 112 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1215762904 COSM4033129 |
113 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs878994844 | 113 | W>* | No | Ensembl | |
| rs2135455641 | 114 | Q>* | No | Ensembl | |
| rs528940960 | 115 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs549098856 | 115 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1953002112 | 116 | G>R | No | Ensembl | |
| rs1301880120 | 117 | A>T | No | gnomAD | |
| rs1953001791 | 119 | H>N | No | TOPMed | |
| rs148750446 | 119 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM3447752 | 119 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767959863 | 120 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs772207416 | 120 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1953001539 | 121 | P>S | No | TOPMed | |
| rs1395401703 | 122 | V>L | No |
TOPMed gnomAD |
|
| rs1395401703 | 122 | V>M | No |
TOPMed gnomAD |
|
| rs1679774886 | 123 | L>P | No | TOPMed | |
| rs1172961248 | 125 | G>S | No |
TOPMed gnomAD |
|
| rs773389040 | 126 | F>C | No |
ExAC TOPMed gnomAD |
|
| rs763415692 | 126 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1953000932 | 126 | F>L | No | TOPMed | |
| rs769714054 | 127 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs762125141 | 127 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs762125141 | 127 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs771916011 | 128 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs771916011 | 128 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1278352696 | 129 | S>G | No | gnomAD | |
| rs745717577 | 129 | S>T | No |
ExAC gnomAD |
|
| rs771033502 | 130 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs778846522 | 130 | R>W | No |
ExAC TOPMed |
|
| rs749218738 | 131 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs149993461 | 132 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs367746563 | 133 | E>* | No |
ESP TOPMed gnomAD |
|
| rs780762267 | 133 | E>D | No |
ExAC gnomAD |
|
| rs367746563 | 133 | E>K | No |
ESP TOPMed gnomAD |
|
| rs1435254787 | 135 | G>S | No | gnomAD | |
| rs146380567 | 137 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs766703628 | 137 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs766703628 | 137 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs950764037 | 138 | K>E | No |
TOPMed gnomAD |
|
| rs192039010 | 139 | A>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1363394941 | 139 | A>S | No | gnomAD | |
| rs111726140 | 140 | Q>H | No | Ensembl | |
| rs1590972703 | 145 | K>N | No | Ensembl | |
| rs750854852 | 145 | K>R | No |
ExAC gnomAD |
|
| rs750854852 | 145 | K>T | No |
ExAC gnomAD |
|
| rs1952998635 | 147 | L>P | No | TOPMed | |
| rs2135455274 | 147 | L>V | No | Ensembl | |
| rs1237536621 | 148 | K>R | No | TOPMed | |
| TCGA novel | 149 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1236593628 | 149 | E>K | No |
TOPMed gnomAD |
|
| rs757779965 | 150 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1308886935 | 151 | E>* | No | TOPMed | |
| rs753905810 | 152 | A>T | No |
ExAC gnomAD |
|
| rs1952995037 | 155 | K>R | No | gnomAD | |
| rs1233318475 | 156 | S>N | No | gnomAD | |
| rs199999369 | 159 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs1278973428 | 159 | A>V | No | TOPMed | |
| rs375277583 | 161 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs769475779 | 161 | R>Q | No |
TOPMed gnomAD |
|
| rs375277583 | 161 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1459685828 | 162 | K>N | No | gnomAD | |
| rs1319978878 | 162 | K>R | No |
TOPMed gnomAD |
|
| rs1418825434 | 163 | D>E | No |
TOPMed gnomAD |
|
| rs773052997 | 165 | K>N | No |
ExAC gnomAD |
|
| rs1194624426 | 166 | T>A | No |
TOPMed gnomAD |
|
| rs927971673 | 166 | T>I | No | gnomAD | |
| rs927971673 | 166 | T>S | No | gnomAD | |
| rs776137905 | 167 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs776137905 | 167 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1475366432 | 167 | A>V | No | gnomAD | |
| TCGA novel | 168 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs140112973 | 169 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1952993031 | 170 | R>W | No |
TOPMed gnomAD |
|
| rs113578242 | 172 | S>G | No | Ensembl | |
|
COSM4710798 rs779623305 |
174 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1952992653 | 174 | A>V | No | TOPMed | |
| rs746286522 | 175 | K>E | No |
ExAC gnomAD |
|
| rs779304877 | 177 | D>G | No |
ExAC gnomAD |
|
| rs754325441 | 179 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs369552036 | 180 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1326380615 | 182 | Q>L | No |
TOPMed gnomAD |
|
| rs1326380615 | 182 | Q>R | No |
TOPMed gnomAD |
|
| rs1009149352 | 184 | Q>* | No | Ensembl | |
| rs1952991609 | 184 | Q>R | No | TOPMed | |
| TCGA novel | 185 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs767914508 | 186 | R>C | No |
ExAC gnomAD |
|
| rs759769124 | 186 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1409455244 | 188 | L>M | No | gnomAD | |
| rs772927740 | 188 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs1171057670 | 189 | Q>* | No | gnomAD | |
| COSM4937641 | 189 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1031356878 | 191 | R>L | No | TOPMed | |
| rs1031356878 | 191 | R>Q | No | TOPMed | |
| rs148229381 | 191 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs768167646 | 193 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs746578453 | 194 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs774976753 | 194 | R>H | No |
ExAC gnomAD |
|
| rs774976753 | 194 | R>L | No |
ExAC gnomAD |
|
| rs143022909 | 196 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs143022909 | 196 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1952989914 | 198 | E>A | No | Ensembl | |
| rs1231953335 | 200 | E>K | No | gnomAD | |
| rs1231953335 | 200 | E>Q | No | gnomAD | |
| rs773730979 | 202 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs572682863 | 203 | K>N | No |
1000Genomes TOPMed |
|
| rs770240765 | 204 | A>T | No |
ExAC gnomAD |
|
| rs555969464 | 206 | Y>H | No |
1000Genomes ExAC gnomAD |
|
| rs747180932 | 208 | Q>H | No |
ExAC gnomAD |
|
| rs1271235579 | 209 | T>A | No | TOPMed | |
| rs149470424 | 209 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs149470424 | 209 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1952975625 | 211 | A>V | No | TOPMed | |
| rs1952975460 | 212 | E>G | No | Ensembl | |
|
COSM3809301 rs1436210392 |
212 | E>K | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs987663238 | 213 | L>Q | No | Ensembl | |
| rs1565138575 | 214 | H>R | No | Ensembl | |
| rs755842192 | 215 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs755842192 | 215 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs569802805 | 215 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1952974780 | 217 | T>I | No | Ensembl | |
| rs924893885 | 218 | P>S | No | gnomAD | |
| rs924893885 | 218 | P>T | No | gnomAD | |
| rs530734643 | 219 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs549826440 COSM1321667 |
219 | R>H | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1463381824 | 221 | M>I | No |
TOPMed gnomAD |
|
| rs1565138545 | 221 | M>T | No | Ensembl | |
| TCGA novel | 222 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1952974159 | 222 | E>K | No | Ensembl | |
| rs1952974054 | 223 | D>N | No | TOPMed | |
| rs1477671448 | 224 | M>T | No |
TOPMed gnomAD |
|
| COSM6132710 | 225 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751126553 | 225 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs765753216 | 227 | A>P | No |
ExAC gnomAD |
|
| rs765753216 | 227 | A>T | No |
ExAC gnomAD |
|
| rs1390718716 | 228 | F>S | No | Ensembl | |
| rs754923304 | 229 | E>Q | No | gnomAD | |
| rs1590971709 | 230 | T>P | No | Ensembl | |
| rs1206727084 | 231 | C>F | No |
TOPMed gnomAD |
|
| rs1206727084 | 231 | C>Y | No |
TOPMed gnomAD |
|
| rs765708998 | 232 | Q>R | No |
ExAC gnomAD |
|
| rs762324925 | 233 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs762324925 | 233 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs199902250 | 234 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199902250 | 234 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1952972615 | 235 | E>G | No | TOPMed | |
| rs200875557 | 235 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs779053098 | 236 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs202065451 | 236 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs202065451 | 236 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs780823150 | 237 | Q>* | No |
ExAC gnomAD |
|
| rs754961841 | 237 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs34915644 | 238 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs765990359 | 238 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs34915644 | 238 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs757921678 | 240 | L>F | No |
ExAC gnomAD |
|
| rs1215225201 | 240 | L>H | No | TOPMed | |
| rs757921678 | 240 | L>V | No |
ExAC gnomAD |
|
| rs749939339 | 241 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs1590971613 | 243 | K>Q | No | Ensembl | |
| rs1565138438 | 245 | M>I | No | Ensembl | |
| rs761341362 | 245 | M>T | No |
ExAC gnomAD |
|
| rs1952971342 | 246 | L>R | No | Ensembl | |
| rs1206025900 | 254 | D>G | No | gnomAD | |
| rs1249900268 | 254 | D>Y | No | gnomAD | |
| rs761275779 | 255 | L>P | No |
ExAC gnomAD |
|
| rs1952970766 | 256 | S>A | No | TOPMed | |
| rs1952970619 | 257 | S>N | No | Ensembl | |
| rs1952970555 | 258 | S>R | No | gnomAD | |
| rs1277018598 | 259 | E>D | No |
TOPMed gnomAD |
|
| rs759674365 | 259 | E>G | No |
ExAC gnomAD |
|
| rs147000809 | 259 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs147000809 | 259 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1952966495 | 261 | F>I | No | TOPMed | |
| rs1590971392 | 263 | E>D | No | Ensembl | |
|
rs147818380 COSM927364 |
266 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs147818380 | 266 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs373614899 | 266 | R>H | No | gnomAD | |
| rs763237797 | 268 | L>F | No |
ExAC gnomAD |
|
| rs1178871090 | 268 | L>V | No | gnomAD | |
| rs1162800974 | 269 | H>N | No | gnomAD | |
| rs1590971353 | 269 | H>P | No | Ensembl | |
| rs1311198799 | 269 | H>Q | No | Ensembl | |
| TCGA novel | 270 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773246741 | 271 | G>D | No |
ExAC gnomAD |
|
| rs746844467 | 272 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs201662110 | 273 | E>V | No | Ensembl | |
| rs1952965243 | 276 | S>R | No | Ensembl | |
| rs772870340 | 278 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2135452398 | 279 | E>K | No | Ensembl | |
| COSM3809300 | 280 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs150148866 | 282 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs756655757 | 282 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs756655757 | 282 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1174348518 | 283 | W>R | No |
TOPMed gnomAD |
|
| rs1952964512 | 284 | W>* | No | TOPMed | |
| rs753542803 | 285 | R>C | No |
ExAC TOPMed gnomAD |
|
|
COSM5469612 rs1565138248 |
285 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs1358292268 | 286 | S>G | No | gnomAD | |
| rs140983686 | 289 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1287036566 | 290 | P>A | No |
TOPMed gnomAD |
|
| rs753103854 | 292 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs1952963622 | 293 | A>T | No | TOPMed | |
| COSM3368375 | 294 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1353861419 | 294 | M>T | No |
TOPMed gnomAD |
|
| rs767850572 | 294 | M>V | No |
ExAC gnomAD |
|
| rs1303518440 | 296 | W>S | No | Ensembl | |
| rs1952963298 | 298 | Q>* | No |
TOPMed gnomAD |
|
| rs1952963210 | 298 | Q>R | No | Ensembl | |
| rs543891568 | 299 | F>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1492512 rs2135452235 |
300 | E>K | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
rs1018179911 COSM4818485 |
301 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs765310580 | 305 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1952959149 | 306 | T>I | No | TOPMed | |
| rs1483304088 | 306 | T>P | No | gnomAD | |
| rs1483304088 | 306 | T>S | No | gnomAD | |
| rs1952959014 | 307 | Q>H | No | TOPMed | |
| rs1276729526 | 309 | T>I | No |
TOPMed gnomAD |
|
| rs1276729526 | 309 | T>K | No |
TOPMed gnomAD |
|
| rs762157558 | 310 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs762157558 | 310 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1952958810 | 311 | S>N | No | Ensembl | |
| rs1346855965 | 311 | S>R | No |
TOPMed gnomAD |
|
| rs776927868 | 312 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs776927868 | 312 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs370134394 | 312 | R>W | No |
ESP TOPMed gnomAD |
|
| rs1008008943 | 314 | E>Q | No |
TOPMed gnomAD |
|
| TCGA novel | 317 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201103192 | 318 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201103192 | 318 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs113148315 | 318 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1262437528 | 319 | S>G | No |
TOPMed gnomAD |
|
| rs1409287474 | 319 | S>R | No |
TOPMed gnomAD |
|
| COSM3447751 | 320 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1191714542 | 321 | D>G | No |
TOPMed gnomAD |
|
| rs151075097 | 321 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs922575185 | 323 | V>I | No |
TOPMed gnomAD |
|
| rs922575185 | 323 | V>L | No |
TOPMed gnomAD |
|
| rs1433453605 | 326 | T>I | No | gnomAD | |
| rs1952957440 | 327 | S>I | No | Ensembl | |
| rs576577136 | 328 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs749229524 | 329 | V>M | No |
ExAC gnomAD |
|
| rs1456322649 | 330 | P>L | No |
TOPMed gnomAD |
|
| rs555994456 | 331 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 331 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769222779 | 333 | D>H | No |
ExAC gnomAD |
|
| rs2135451692 | 334 | G>V | No | Ensembl | |
| rs780877484 | 335 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1181492205 | 335 | T>N | No | gnomAD | |
| rs1275959972 | 336 | A>G | No | TOPMed | |
| rs2135451660 | 336 | A>T | No | Ensembl | |
| rs1275959972 | 336 | A>V | No | TOPMed | |
| rs1185667942 | 339 | P>S | No | gnomAD | |
| TCGA novel | 339 | P>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758850415 | 340 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs747411757 | 340 | Q>K | No |
ExAC gnomAD |
|
| rs780443505 | 340 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs780443505 | 340 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs765236503 | 342 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs765236503 | 342 | P>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 342 | P>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753955865 | 343 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs753955865 | 343 | G>E | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 343 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs372981362 | 347 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs372981362 | 347 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1952938375 | 348 | G>E | No | Ensembl | |
| rs1188990064 | 349 | Q>P | No |
TOPMed gnomAD |
|
| rs1188990064 | 349 | Q>R | No |
TOPMed gnomAD |
|
| rs377425381 | 350 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs377425381 | 350 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs373549869 | 351 | E>K | No |
ESP ExAC gnomAD |
|
| rs760277008 | 352 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1952937544 | 354 | S>L | No | Ensembl | |
| rs1280376455 | 355 | D>N | No | Ensembl | |
| rs1266155354 | 355 | D>V | No | gnomAD | |
| rs775159049 | 356 | E>D | No |
ExAC TOPMed gnomAD |
|
| COSM1703871 | 356 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs771600922 | 357 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs553427579 | 359 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs749751566 | 360 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs771622095 | 360 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1029568061 | 361 | K>N | No | Ensembl | |
| rs1434333359 | 362 | A>V | No | Ensembl | |
| rs778001125 | 363 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs141969490 | 365 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1168948614 | 367 | R>Q | No | gnomAD | |
| rs755154591 | 367 | R>W | No |
ExAC TOPMed gnomAD |
|
|
rs1431423793 COSM1354034 |
368 | V>A | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 369 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1590970128 | 370 | A>P | No | Ensembl | |
| rs1264960152 | 370 | A>V | No |
TOPMed gnomAD |
|
| rs867032912 | 373 | D>Y | No |
TOPMed gnomAD |
|
| rs1161938060 | 374 | Y>C | No |
TOPMed gnomAD |
|
| rs754869570 | 375 | A>S | No |
TOPMed gnomAD |
|
| rs754869570 | 375 | A>T | No |
TOPMed gnomAD |
|
| rs1952933793 | 375 | A>V | No | Ensembl | |
| rs1482319782 | 376 | G>D | No | gnomAD | |
| rs1206251250 | 379 | A>T | No | gnomAD | |
| rs1344727255 | 382 | L>P | No | gnomAD | |
| TCGA novel | 383 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1254667379 | 383 | S>T | No | gnomAD | |
| rs369095922 | 385 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs181415345 | 385 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs181415345 | 385 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1302679932 | 387 | G>R | No | gnomAD | |
| rs747168588 | 388 | E>K | No |
ExAC gnomAD |
|
| COSM1354033 | 388 | E>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778711998 | 389 | E>V | No |
ExAC gnomAD |
|
| rs1403115142 | 391 | L>V | No | gnomAD | |
| rs1338919939 | 392 | K>N | No | gnomAD | |
| TCGA novel | 392 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1565137029 | 394 | S>T | No | Ensembl | |
| rs756997544 | 396 | E>K | No |
ExAC gnomAD |
|
| rs376875354 | 398 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs545240553 | 398 | E>K | No | Ensembl | |
| rs755999542 | 399 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs755999542 | 399 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs1187222760 | 399 | Q>H | No |
TOPMed gnomAD |
|
| COSM6132711 | 400 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1952918602 | 401 | W>R | No | gnomAD | |
| rs1443331561 | 402 | C>R | No | gnomAD | |
| rs2135448610 | 403 | Q>R | No | Ensembl | |
| rs139474386 | 404 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs1952918413 | 404 | G>S | No | gnomAD | |
| rs766876865 | 405 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1952917878 | 409 | G>S | No | TOPMed | |
|
COSM189838 rs753557964 |
410 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA gnomAD |
| rs1354115594 | 410 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| COSM927363 | 410 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200030202 | 411 | I>F | No |
1000Genomes gnomAD |
|
| rs200030202 | 411 | I>L | No |
1000Genomes gnomAD |
|
| rs759228010 | 411 | I>T | No |
ExAC gnomAD |
|
| rs200030202 | 411 | I>V | No |
1000Genomes gnomAD |
|
| rs867972868 | 412 | G>V | No | Ensembl | |
| COSM927362 | 413 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1171639549 | 414 | Y>* | No |
TOPMed gnomAD |
|
| rs1198382507 | 414 | Y>C | No | TOPMed | |
| rs1952916897 | 417 | N>D | No | TOPMed | |
| rs766869305 | 418 | Y>* | No |
ExAC TOPMed gnomAD |
|
| rs1388195253 | 419 | V>E | No | gnomAD | |
| rs1388195253 | 419 | V>G | No | gnomAD | |
| rs763455118 | 419 | V>M | No |
ExAC gnomAD |
|
| rs1321257583 | 420 | E>V | No | gnomAD | |
| rs1768791161 | 421 | C>R | No | gnomAD | |
| rs1172541397 | 421 | C>Y | No |
TOPMed gnomAD |
|
| rs1020429247 | 422 | V>L | No |
TOPMed gnomAD |
|
| rs773710971 | 423 | G>D | No |
ExAC gnomAD |
|
| rs146792675 | 423 | G>S | No |
ESP gnomAD |
|
| rs143875413 | 424 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs143875413 | 424 | A>T | No |
ESP ExAC TOPMed gnomAD |
No associated diseases with Q9UKS6
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium channel inhibitor activity | Binds to and stops, prevents, or reduces the activity of a calcium channel. |
| cytoskeletal protein binding | Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
| identical protein binding | Binding to an identical protein or proteins. |
| lipid binding | Binding to a lipid. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle. |
| negative regulation of calcium ion transport | Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| negative regulation of endocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis. |
| plasma membrane tubulation | A membrane tubulation process occurring in a plasma membrane. |
| positive regulation of membrane protein ectodomain proteolysis | Any process that activates or increases the frequency, rate or extent of membrane protein ectodomain peptidolysis. |
| regulation of endocytosis | Any process that modulates the frequency, rate or extent of endocytosis. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P25623 | SYP1 | Suppressor of yeast profilin deletion | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| A7MBI0 | PACSIN1 | Protein kinase C and casein kinase substrate in neurons protein 1 | Bos taurus (Bovine) | SS |
| O13154 | PACSIN2 | Protein kinase C and casein kinase substrate in neurons protein 2 | Gallus gallus (Chicken) | SS |
| Q9BY11 | PACSIN1 | Protein kinase C and casein kinase substrate in neurons protein 1 | Homo sapiens (Human) | EV |
| Q9UNF0 | PACSIN2 | Protein kinase C and casein kinase substrate in neurons protein 2 | Homo sapiens (Human) | EV |
| O60861 | GAS7 | Growth arrest-specific protein 7 | Homo sapiens (Human) | PR |
| Q9H939 | PSTPIP2 | Proline-serine-threonine phosphatase-interacting protein 2 | Homo sapiens (Human) | PR |
| Q61644 | Pacsin1 | Protein kinase C and casein kinase substrate in neurons protein 1 | Mus musculus (Mouse) | EV |
| Q9WVE8 | Pacsin2 | Protein kinase C and casein kinase substrate in neurons protein 2 | Mus musculus (Mouse) | EV |
| Q99JB8 | Pacsin3 | Protein kinase C and casein kinase II substrate protein 3 | Mus musculus (Mouse) | SS |
| Q99M15 | Pstpip2 | Proline-serine-threonine phosphatase-interacting protein 2 | Mus musculus (Mouse) | PR |
| Q9Z0W5 | Pacsin1 | Protein kinase C and casein kinase substrate in neurons protein 1 | Rattus norvegicus (Rat) | SS |
| Q9QY17 | Pacsin2 | Protein kinase C and casein kinase substrate in neurons 2 protein | Rattus norvegicus (Rat) | SS |
| Q4V920 | pacsin1b | Protein kinase C and casein kinase substrate in neurons protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPEEDAGGE | ALGGSFWEAG | NYRRTVQRVE | DGHRLCGDLV | SCFQERARIE | KAYAQQLADW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARKWRGTVEK | GPQYGTLEKA | WHAFFTAAER | LSALHLEVRE | KLQGQDSERV | RAWQRGAFHR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PVLGGFRESR | AAEDGFRKAQ | KPWLKRLKEV | EASKKSYHAA | RKDEKTAQTR | ESHAKADSAV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SQEQLRKLQE | RVERCAKEAE | KTKAQYEQTL | AELHRYTPRY | MEDMEQAFET | CQAAERQRLL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FFKDMLLTLH | QHLDLSSSEK | FHELHRDLHQ | GIEAASDEED | LRWWRSTHGP | GMAMNWPQFE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EWSLDTQRTI | SRKEKGGRSP | DEVTLTSIVP | TRDGTAPPPQ | SPGSPGTGQD | EEWSDEESPR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KAATGVRVRA | LYDYAGQEAD | ELSFRAGEEL | LKMSEEDEQG | WCQGQLQSGR | IGLYPANYVE |
| CVGA |