SORBS3 sorbin and SH3 domain containing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SORBS3provided by HGNC
Official Full Name: sorbin and SH3 domain containing 3provided by HGNC
Primary source: HGNC:HGNC:30907
See related: Ensembl:ENSG00000120896 MIM:610795; AllianceGenome:HGNC:30907
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCAM1; SH3D4; SCAM-1
Summary: This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Expression: Ubiquitous expression in fat (RPKM 30.7), testis (RPKM 27.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.3

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (22544973..22575788)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (22815216..22849637)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (22409440..22433301)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Increased SORBS3 expression in brain ageing contributes to autophagic decline via YAP1-WWTR1/TAZ signaling.
Title: Increased SORBS3 expression in brain ageing contributes to autophagic decline via YAP1-WWTR1/TAZ signaling.
Vinexin contributes to autophagic decline in brain ageing across species.
Title: Vinexin contributes to autophagic decline in brain ageing across species.
Vinexin beta deficiency attenuates atherogenesis primarily by suppressing vascular inflammation and inactivating Akt-nuclear factor kappaB signaling. Our data suggest that vinexin beta could be a therapeutic target for the treatment of atherosclerosis.
Title: Vinexin β Ablation Inhibits Atherosclerosis in Apolipoprotein E-Deficient Mice by Inactivating the Akt-Nuclear Factor κB Inflammatory Axis.
The chromosome 8p tumor suppressor genes SORBS3 and SH2D4A are physically and functionally linked and provide a molecular mechanism of inhibiting STAT3-mediated IL-6 signaling in hepatocellular carcinoma cells.
Title: Chromosome 8p tumor suppressor genes SH2D4A and SORBS3 cooperate to inhibit interleukin-6 signaling in hepatocellular carcinoma.
Study identified possible epigenetic influence on differential gene expression in SORBS3 under obese conditions.
Title: Next-generation sequencing methylation profiling of subjects with obesity identifies novel gene changes.
Our findings revealed that Vinexin-beta acts as a novel modulator of ischaemic injury
Title: Vinexin-β deficiency protects against cerebral ischaemia/reperfusion injury by inhibiting neuronal apoptosis.
Taken together, the findings suggest that vinexin beta modulates NS5A phosphorylation via its interaction with NS5A, thereby regulating hepatitis C virus replication, implicating vinexin beta in the viral life cycle.
Title: Vinexin β Interacts with Hepatitis C Virus NS5A, Modulating Its Hyperphosphorylation To Regulate Viral Propagation.
Vinexin knockdown using siRNA delayed migration of both HaCaT human keratinocytes and A431 epidermoid carcinoma cells in scratch assay but did not affect cell proliferation.
Title: Crucial role of vinexin for keratinocyte migration in vitro and epidermal wound healing in vivo.
Rhotekin forms a complex with vinexin and may play a role at focal adhesions.
Title: Interaction of a multi-domain adaptor protein, vinexin, with a Rho-effector, Rhotekin.
Vinexin is enriched at the leading edge of migrating cells, lamellipodia and and focal adhesions in well-spread cells.
Title: Essential roles of ERK-mediated phosphorylation of vinexin in cell spreading, migration and anchorage-independent growth.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Host determinants of HIV-1 control in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-30970 (e-PCR)
- UniSTS:81153

RH78782 (e-PCR)
- UniSTS:57885

RH41845 (e-PCR)
- UniSTS:91017

D8S136 (e-PCR), detects polymorphism
- UniSTS:146914

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed
enables vinculin binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell-substrate adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell-substrate junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
colocalizes_with focal adhesion	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: vinexin

Names: sorbin and SH3 domain-containing protein 3; vinexin beta (SH3-containing adaptor molecule-1)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030586.2 RefSeqGene

Range

11956..35817

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001018003.3 → NP_001018003.1 vinexin isoform 2

See identical proteins and their annotated locations for NP_001018003.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.

Source sequence(s)

AC037459, BC010146, BM999851

Consensus CDS

CCDS47824.1

UniProtKB/TrEMBL

B4DVR4

Related

ENSP00000429764.2, ENST00000523965.5

Conserved Domains (3) summary

cd11918
Location:272 → 329

SH3_Vinexin_3; Third (or C-terminal) Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

cd11921
Location:41 → 95

SH3_Vinexin_1; First Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

cd11924
Location:115 → 170

SH3_Vinexin_2; Second Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
NM_005775.5 → NP_005766.3 vinexin isoform 1

See identical proteins and their annotated locations for NP_005766.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC037459, AF037261, BC091514, BM999851, CF456833

Consensus CDS

CCDS6031.1

UniProtKB/Swiss-Prot

O60504, Q5BJE4, Q6NX54, Q96FY4, Q9UQE4

Related

ENSP00000240123.7, ENST00000240123.12

Conserved Domains (5) summary

smart00459
Location:116 → 165

Sorb; Sorbin homologous domain

cd11918
Location:614 → 671

SH3_Vinexin_3; Third (or C-terminal) Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

cd11921
Location:383 → 437

SH3_Vinexin_1; First Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

cd11924
Location:457 → 512

SH3_Vinexin_2; Second Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

pfam16214
Location:298 → 373

AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

22544973..22575788

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421214.1 → XP_047277170.1 vinexin isoform X1
XM_047421216.1 → XP_047277172.1 vinexin isoform X1
XM_047421215.1 → XP_047277171.1 vinexin isoform X1
XM_047421213.1 → XP_047277169.1 vinexin isoform X1
XM_006716266.2 → XP_006716329.1 vinexin isoform X2

Conserved Domains (5) summary

smart00459
Location:155 → 204

Sorb; Sorbin homologous domain

cd11918
Location:653 → 710

SH3_Vinexin_3; Third (or C-terminal) Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

cd11921
Location:422 → 476

SH3_Vinexin_1; First Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

cd11924
Location:496 → 551

SH3_Vinexin_2; Second Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

pfam16214
Location:337 → 412

AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
XM_047421217.1 → XP_047277173.1 vinexin isoform X3
XM_047421218.1 → XP_047277174.1 vinexin isoform X4
XM_047421219.1 → XP_047277175.1 vinexin isoform X5
XM_017012945.2 → XP_016868434.1 vinexin isoform X5

UniProtKB/TrEMBL

B4DVR4

Conserved Domains (3) summary

cd11918
Location:272 → 329

SH3_Vinexin_3; Third (or C-terminal) Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

cd11921
Location:41 → 95

SH3_Vinexin_1; First Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

cd11924
Location:115 → 170

SH3_Vinexin_2; Second Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
XM_017012946.2 → XP_016868435.1 vinexin isoform X5

UniProtKB/TrEMBL

B4DVR4

Conserved Domains (3) summary

cd11918
Location:272 → 329

SH3_Vinexin_3; Third (or C-terminal) Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

cd11921
Location:41 → 95

SH3_Vinexin_1; First Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)

cd11924
Location:115 → 170

SH3_Vinexin_2; Second Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)