Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q96PB8

Entry ID Method Resolution Chain Position Source
5EMA X-ray 132 A B 252-259 PDB
AF-Q96PB8-F1 Predicted AlphaFoldDB

137 variants for Q96PB8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA351960526
rs1230773978
2 N>S No ClinGen
TOPMed
CA351960537
rs1179017514
4 V>L No ClinGen
gnomAD
TCGA novel 5 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1342198795
CA351960553
6 L>P No ClinGen
TOPMed
rs1265424915
CA351960562
7 W>C No ClinGen
gnomAD
rs1453657703
CA351960572
9 T>S No ClinGen
gnomAD
CA351960577
rs370610399
10 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370610399
CA2289950
10 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM84781
rs769780461
CA2289951
10 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs773342091
CA2289952
13 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1169534610
CA351960601
14 M>T No ClinGen
gnomAD
TCGA novel 18 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1440764085
CA351960634
19 Q>P No ClinGen
gnomAD
rs1559376730
CA351960736
33 M>T No ClinGen
Ensembl
CA351960764
rs1295394683
37 G>R No ClinGen
gnomAD
CA72416837
rs1052976295
38 C>Y No ClinGen
TOPMed
CA351960777
rs1171100167
39 L>V No ClinGen
TOPMed
CA72416838
COSM1692482
rs916617530
41 S>F skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1308282665
CA351960805
43 S>C No ClinGen
gnomAD
rs760414274
CA2289957
44 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA2289958
rs766228609
45 G>S No ClinGen
ExAC
gnomAD
rs566309719
CA2289959
45 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA351960831
rs1559376782
48 V>I No ClinGen
Ensembl
CA351960840
rs1260322046
49 T>N No ClinGen
TOPMed
rs1214454656
CA351960863
52 N>S No ClinGen
gnomAD
CA72416842
rs948032913
53 A>V No ClinGen
Ensembl
CA72416843
rs1046704717
54 N>H No ClinGen
Ensembl
TCGA novel 54 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 55 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351960893
rs1447656470
COSM1692483
57 E>K Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA351960894
rs1447656470
57 E>Q No ClinGen
TOPMed
gnomAD
CA351960902
rs1419982650
58 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 61 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749994595
CA2289962
61 D>G No ClinGen
ExAC
gnomAD
rs374191641
CA2289961
61 D>N No ClinGen
ESP
ExAC
gnomAD
rs868070081
CA72416844
63 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA351960957
rs1460053458
66 T>I No ClinGen
gnomAD
CA351960960
rs1559376847
67 V>D No ClinGen
Ensembl
rs757960474
CA2289963
67 V>L No ClinGen
ExAC
gnomAD
CA351960969
rs1461487408
68 L>F No ClinGen
gnomAD
TCGA novel 70 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351960977
rs1327375466
70 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA72416845
rs1053007491
72 D>E No ClinGen
TOPMed
CA2289964
rs779876180
72 D>H No ClinGen
ExAC
gnomAD
TCGA novel 75 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs891544133
CA72416847
75 Q>R No ClinGen
Ensembl
CA72416848
rs1011710148
77 T>I No ClinGen
Ensembl
rs949280435
CA72416850
81 N>D No ClinGen
TOPMed
rs367798469
CA2289965
81 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA351961054
rs1244259247
82 E>A No ClinGen
gnomAD
CA72416851
rs865841768
82 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA351961060
rs1463103085
83 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 84 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1288592459
CA351961088
86 D>E No ClinGen
gnomAD
CA351961100
rs1363135172
88 H>L No ClinGen
gnomAD
TCGA novel 88 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 93 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 98 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1175836219
CA351961180
100 I>N No ClinGen
gnomAD
rs779945211
CA72416852
101 E>A No ClinGen
Ensembl
CA351961190
rs1275190304
101 E>D No ClinGen
gnomAD
rs1463445267
CA351961194
102 F>Y No ClinGen
gnomAD
CA2289967
rs781567226
103 I>T No ClinGen
ExAC
gnomAD
COSM1043410
CA2289968
rs764546245
104 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA72416853
rs867930462
105 E>K No ClinGen
Ensembl
CA72416854
rs889491208
109 K>E No ClinGen
TOPMed
rs1486737127
CA351961251
110 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1170416847
CA351961256
111 V>E No ClinGen
TOPMed
CA72416855
rs1019519887
111 V>I No ClinGen
gnomAD
CA351961292
rs1026627648
116 Q>H No ClinGen
TOPMed
gnomAD
CA351961304
rs1236420358
118 L>R No ClinGen
TOPMed
CA2289973
COSM1692484
rs146258223
122 D>N skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA351961344
rs1433291714
124 R>L No ClinGen
gnomAD
CA351961342
rs1433291714
124 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs759744526
CA2289974
124 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs776555450
CA2289976
126 Q>R No ClinGen
ExAC
rs761482645
CA2289977
129 H>P No ClinGen
ExAC
gnomAD
TCGA novel 131 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA72416857
rs984243636
135 N>D No ClinGen
Ensembl
CA2289979
rs750339961
135 N>K No ClinGen
ExAC
gnomAD
CA72416860
rs969406430
137 K>M No ClinGen
TOPMed
gnomAD
CA72416859
rs969406430
137 K>R No ClinGen
TOPMed
gnomAD
CA351961450
rs1377921930
140 A>S No ClinGen
TOPMed
rs868235124
CA72416861
146 P>L No ClinGen
Ensembl
rs1575188089
CA351961492
146 P>S No ClinGen
Ensembl
CA351961520
rs1352026072
150 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs753150343
CA2289985
154 Q>* No ClinGen
ExAC
gnomAD
CA2289987
rs778280761
160 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs749724681
CA2289988
161 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA351961629
rs1238396365
165 E>D No ClinGen
TOPMed
TCGA novel 166 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1296169098
CA351961652
169 N>D No ClinGen
gnomAD
rs779020530
CA2289990
171 I>T No ClinGen
ExAC
gnomAD
rs1334251578
CA351961700
176 V>M No ClinGen
gnomAD
rs761690621
CA2289994
178 D>E No ClinGen
ExAC
gnomAD
TCGA novel 178 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs946884716
CA72416864
181 A>D No ClinGen
Ensembl
CA2289996
rs773287847
183 R>G No ClinGen
ExAC
CA72416865
rs998100430
184 P>A No ClinGen
TOPMed
rs1279254174
CA351961754
184 P>Q No ClinGen
gnomAD
CA351961785
rs1212820384
189 A>T No ClinGen
gnomAD
rs1270413454
CA351961792
190 N>D No ClinGen
gnomAD
CA2290001
rs146526715
191 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2290002
rs752250087
COSM2151768
192 A>T Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1040665618
CA72416867
199 K>I No ClinGen
gnomAD
TCGA novel 199 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2290006
rs200924005
200 K>I No ClinGen
1000Genomes
ExAC
gnomAD
CA2290007
rs139556197
204 Y>D No ClinGen
ESP
ExAC
gnomAD
rs781054615
CA72416869
206 M>V No ClinGen
gnomAD
CA351961926
rs1371693507
210 M>V No ClinGen
gnomAD
CA72416870
rs867210963
212 G>C No ClinGen
Ensembl
rs746010738
CA2290008
214 F>L No ClinGen
ExAC
rs758361679
CA351961966
215 T>I No ClinGen
ExAC
gnomAD
rs758361679
CA2290009
215 T>S No ClinGen
ExAC
gnomAD
rs1268262307
CA351961972
216 M>T No ClinGen
gnomAD
CA72416871
rs867290980
219 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA351962009
rs956953900
222 V>I No ClinGen
TOPMed
rs956953900
CA72416872
222 V>L No ClinGen
TOPMed
rs749094552
CA2290015
226 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA72416873
rs868107552
229 Q>* No ClinGen
Ensembl
CA2290017
rs774103753
229 Q>H No ClinGen
ExAC
gnomAD
rs1157621446
CA351962088
233 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
COSM1043414
rs1421674966
CA351962087
233 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA351962104
rs1459915991
235 H>Q No ClinGen
gnomAD
CA72416874
rs917994529
236 L>R No ClinGen
TOPMed
gnomAD
rs760377591
CA2290021
COSM1043415
237 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1315880750
CA351962119
238 Y>H No ClinGen
gnomAD
CA2290023
rs763729953
243 P>A No ClinGen
ExAC
gnomAD
CA351962153
rs763729953
243 P>S No ClinGen
ExAC
gnomAD
CA351962170
rs1559377434
245 R>S No ClinGen
Ensembl
CA351962175
rs1559377439
246 Q>P No ClinGen
Ensembl
rs750855004
CA2290027
252 P>L No ClinGen
ExAC
gnomAD
rs1469253772
CA351962220
252 P>S No ClinGen
gnomAD
CA351962228
rs1575188693
253 D>V No ClinGen
Ensembl
rs1260034150
CA351962231
254 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA351962245
rs1479283075
255 I>M No ClinGen
TOPMed
gnomAD
rs758512026
CA2290028
258 V>M No ClinGen
ExAC
gnomAD

No associated diseases with Q96PB8

6 regional properties for Q96PB8

Type Name Position InterPro Accession
domain Leucine-rich repeat N-terminal domain 33 - 68 IPR000372
repeat Leucine-rich repeat 69 - 111 IPR001611-1
repeat Leucine-rich repeat 114 - 136 IPR001611-2
repeat Leucine-rich repeat, typical subtype 67 - 86 IPR003591-1
repeat Leucine-rich repeat, typical subtype 87 - 110 IPR003591-2
repeat Leucine-rich repeat, typical subtype 115 - 135 IPR003591-3

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
extracellular matrix A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A6H789 LRRC3B Leucine-rich repeat-containing protein 3B Bos taurus (Bovine) PR
Q8IWK6 ADGRA3 Adhesion G protein-coupled receptor A3 Homo sapiens (Human) PR
Q86UN2 RTN4RL1 Reticulon-4 receptor-like 1 Homo sapiens (Human) PR
Q96FE5 LINGO1 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 Homo sapiens (Human) PR
Q7TT36 Adgra3 Adhesion G protein-coupled receptor A3 Mus musculus (Mouse) PR
Q8VCH9 Lrrc3b Leucine-rich repeat-containing protein 3B Mus musculus (Mouse) PR
10 20 30 40 50 60
MNLVDLWLTR SLSMCLLLQS FVLMILCFHS ASMCPKGCLC SSSGGLNVTC SNANLKEIPR
70 80 90 100 110 120
DLPPETVLLY LDSNQITSIP NEIFKDLHQL RVLNLSKNGI EFIDEHAFKG VAETLQTLDL
130 140 150 160 170 180
SDNRIQSVHK NAFNNLKARA RIANNPWHCD CTLQQVLRSM ASNHETAHNV ICKTSVLDEH
190 200 210 220 230 240
AGRPFLNAAN DADLCNLPKK TTDYAMLVTM FGWFTMVISY VVYYVRQNQE DARRHLEYLK
250
SLPSRQKKAD EPDDISTVV