SNX13 - sorting nexin 13 Gene

Homo sapiens

Also known as RGS-PX1

Gene ID: 23161 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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