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SNX13 - sorting nexin 13 Gene

Also Known as RGS-PX1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23161

About SNX13

Cytogenetic location: 7p21.1 Genomic coordinates (GRCh38): 7:17,790,761-17,940,494 (from NCBI)

This gene has 13 transcripts (splice variants), 212 orthologues and 3 paralogues. Ubiquitous expression in thyroid (RPKM 8.8), testis (RPKM 6.4) and 25 other tissues.

Summary

This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008]

SNX13 Products (8)

mRNA	Protein	Name
NM_001350862.2	NP_001337791.1	sorting nexin-13 isoform a
NM_001350863.2	NP_001337792.1	sorting nexin-13 isoform c
NM_001350864.2	NP_001337793.1	sorting nexin-13 isoform d
NM_001350866.2	NP_001337795.1	sorting nexin-13 isoform e
NM_001350867.2	NP_001337796.1	sorting nexin-13 isoform e
NM_001350868.2	NP_001337797.1	sorting nexin-13 isoform f
NM_001350870.2	NP_001337799.1	sorting nexin-13 isoform g
NM_015132.5	NP_055947.1	sorting nexin-13 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	11729322	GOA
enables phosphatidylinositol-3-phosphate binding	IDA IDA: Inferred from direct assay	25148684	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in intracellular protein transport	IMP IMP: Inferred from mutant phenotype	11729322	GOA
involved in positive regulation of GTPase activity	IDA IDA: Inferred from direct assay	11729322	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in early endosome	IDA IDA: Inferred from direct assay	11729322	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNX13 Protein Structure

PXA

RGS

Nexin_C

0
200
400
600
800
957 a.a.

Protein Preferred Names	Protein Names
sorting nexin-13	rgs domain- and phox domain-containing protein

Related Diseases

Diseases	Alias
Dermatosis Papulosa Nigra
Spinocerebellar Ataxia, Autosomal Recessive 20	Autosomal Recessive Spinocerebellar Ataxia 20 SCAR20 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome Autosomal Recessive Spinocerebellar Ataxia Type 20 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 20 Ataxia, Spinocerebellar, Autosomal Recessive, Type 20
Saethre-Chotzen Syndrome	SCS Acs3 Acs Iii Chotzen Syndrome Acrocephaly, Skull Asymmetry, And Mild Syndactyly Acrocephalosyndactyly Type 3 Acrocephalosyndactyly, Type Iii Acrocephalosyndactyly Type Iii Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies Auralcephalosyndactyly Acs 3 Acrocephalo-Syndactyly, Type 3 Blepharophimosis,Epicanthus Inversus, And Ptosis 3 Aural Cephalosyndactyly Kurczynski-Casperson Syndrome Acrocephalosyndactyly Iii Dysostosis Craniofacialis With Hypertelorism Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies Sakati Syndrome
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13526	SNX13 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SNX13	VGNC	VGNC:106940
Felis catus	SNX13	VGNC	VGNC:65544
Rattus norvegicus	SNX13	RGD	RGD:1309778
Macaca mulatta	SNX13	VGNC	VGNC:77753
Canis familiaris	SNX13	VGNC	VGNC:46622
Mus musculus	SNX13	MGD	MGI:2661416
Others	SNX13	NCBI