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Summary Statistics:
ASD Reports: 5
Recent Reports: 2
Annotated variants: 3
Associated CNVs: 12
Evidence score: 2
Gene Score: 5
Relevance to Autism
Rare mutations in the SH3KBP1 gene have been identified with autism (Piton et al., 2011).
Molecular Function
An adaptor protein that facilitates protein-protein interactions
References
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Integrating de novo and inherited variants in 42
ASD
Highly Cited
Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors.
Recent Recommendation
CIN85 regulates dopamine receptor endocytosis and governs behaviour in mice.
Recent Recommendation
Cindr interacts with anillin to control cytokinesis in Drosophila melanogaster.
GEN228R001
missense_variant
c.1372A>G
p.Ser458Gly
Familial
Maternal
GEN228R002
synonymous_variant
c.1587G>T
p.Ala529%3D
De novo
GEN228R003
missense_variant
c.154T>C
p.Phe52Leu
De novo
No Common Variants Available
X
Deletion-Duplication
15
X
Deletion-Duplication
21
No Animal Model Data Available
Summary Statistics:
Total Interactions: 33
Total Publications: 3
| Interactor Symbol |
Interactor Name |
Interactor Organism |
Entrez ID |
Uniprot ID |
Interaction Type |
Evidence |
Reference |
| ARAP1 |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 |
|
116985
|
Q96P48
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| ARHGAP17 |
Rho GTPase activating protein 17 |
|
55114
|
Q68EM7
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| ARHGAP44 |
Rho GTPase activating protein 44 |
|
9912
|
Q17R89
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| ASAP1 |
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 |
|
50807
|
Q9ULH1
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| ASAP2 |
ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 |
|
8853
|
O43150
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| CAPZA1 |
capping protein (actin filament) muscle Z-line, alpha 1 |
|
829
|
P52907
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| CAPZA2 |
capping protein (actin filament) muscle Z-line, alpha 2 |
|
830
|
P47755
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| CAPZB |
capping protein (actin filament) muscle Z-line, beta |
|
832
|
P47756
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| CBL |
Cas-Br-M (murine) ecotropic retroviral transforming sequence |
|
867
|
P22681
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| CD2AP |
CD2-associated protein |
|
23607
|
Q9Y5K6
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| CDC27 |
cell division cycle 27 |
|
996
|
G3V1C4
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| CHMP5 |
Charged multivesicular body protein 5 |
|
51510
|
Q9NZZ3
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| FBXO28 |
F-box protein 28 |
|
23219
|
E9PEM8
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| GAS2L1 |
VASH1 |
|
10634
|
A0A5E8
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| KLC2 |
kinesin light chain 2 |
|
64837
|
Q9H0B6
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| MDC1 |
mediator of DNA-damage checkpoint 1 |
|
9656
|
A1Z5I9
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| MET |
met proto-oncogene (hepatocyte growth factor receptor) |
|
4233
|
P08581
|
|
IP/WB
|
Petrelli A , et al. 2002
|
| MICALL1 |
MICAL-like 1 |
|
85377
|
Q8N3F8
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| MPP5 |
membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) |
|
64398
|
Q8N3R9
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| MRPL12 |
mitochondrial ribosomal protein L12 |
|
6182
|
P52815
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| RAB11A |
RAB11A, member RAS oncogene family |
|
8766
|
P62491
|
|
IP/WB
|
Yakymovych I , et al. 2015
|
| RTKN2 |
rhotekin 2 |
|
219790
|
Q8IZC4
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| SH3BP1 |
SH3-domain binding protein 1 |
|
23616
|
Q9Y3L3
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| SH3D19 |
SH3 domain containing 19 |
|
152503
|
Q5HYK7
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| STAP1 |
Signal-transducing adaptor protein 1 |
|
26228
|
Q9ULZ2
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| SYNJ2 |
synaptojanin 2 |
|
8871
|
B4DG94
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| TCP10L |
T-complex protein 10A homolog 2 |
|
140290
|
Q8TDR4
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| TGFBR1 |
transforming growth factor, beta receptor 1 |
|
7046
|
P36897
|
|
IP/WB; Co-localization
|
Yakymovych I , et al. 2015
|
| TGFBR2 |
transforming growth factor, beta receptor II (70/80kDa) |
|
7048
|
P37173
|
|
IP/WB
|
Yakymovych I , et al. 2015
|
| TP63 |
tumor protein p63 |
|
8626
|
Q9H3D4
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| TRAF6 |
TNF receptor-associated factor 6, E3 ubiquitin protein ligase |
|
7189
|
Q9Y4K3
|
|
In vivo ubiquitination assay
|
Yakymovych I , et al. 2015
|
| USP27X |
Ubiquitin carboxyl-terminal hydrolase 27 |
|
389856
|
A6NNY8
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| ZNF764 |
zinc finger protein 764 |
|
92595
|
Q96H86
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
|
