InnateDB Protein
|
IDBP-95000.7
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
SNX3
|
Protein Name
|
sorting nexin 3
|
Synonyms
|
Grd19; MCOPS8; SDP3;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000296991
|
InnateDB Gene
|
IDBG-94996 (SNX3)
|
Protein Structure
|
|
Function |
Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Plays a role in protein transport between cellular compartments. Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation. {ECO:0000250, ECO:0000269PubMed:11433298, ECO:0000269PubMed:18767904}.
|
Subcellular Localization |
Early endosome {ECO:0000269PubMed:11433298}.
|
Disease Associations |
Microphthalmia, syndromic, 8 (MCOPS8) [MIM:601349]: A very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269PubMed:12471201}. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving SNX3 has been found in patients with syndromic microphthalmia. Translocation t(6;13)(q21;q12).
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 38 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
38
[view]
|
Protein-Protein |
32
[view]
|
Protein-DNA |
6
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001683
Phox homologous domain
|
PFAM |
PF00787
|
PRINTS |
|
PIRSF |
|
SMART |
SM00312
|
TIGRFAMs |
|
Modification |
|
SwissProt |
O60493
|
PhosphoSite |
PhosphoSite-O60493
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
8724
|
UniGene |
Hs.12102
|
RefSeq |
NP_001287858
|
HUGO |
HGNC:11174
|
OMIM |
605930
|
CCDS |
CCDS75501
|
HPRD |
09333
|
IMGT |
|
EMBL |
AB047360
AF034546
AF062483
AK289476
AL078596
BC008444
BC014580
BC015179
BC016863
BT007114
CH471051
CR456898
Z98742
|
GenPept |
AAC16018
AAC16040
AAH08444
AAH14580
AAH15179
AAH16863
AAP35778
BAB32649
BAF82165
CAG33179
CAI20817
CAI20818
CAI20819
CAI95646
CAI95647
CAI95648
EAW48378
EAW48379
EAW48381
EAW48382
|
|
|