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

Gene ID: 10174, updated on 3-Apr-2024

Summary

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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
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Genomic context

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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_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18986 Neighboring gene RNA, U6 small nuclear 336, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27079 Neighboring gene protein phosphatase 3 catalytic subunit gamma Neighboring gene uncharacterized LOC124901905 Neighboring gene BTF3 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22406579-22407079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22408405-22409369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22409593-22410470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22410471-22411346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22413914-22414436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18990 Neighboring gene Sharpr-MPRA regulatory region 12029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22421349-22422242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22429393-22430084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22430085-22430775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22431841-22432559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22435755-22436448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22439222-22439914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22442189-22442858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22447071-22448071 Neighboring gene PDZ and LIM domain 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22454615-22455362 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22455363-22456110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22458799-22459676 Neighboring gene uncharacterized LOC107986876 Neighboring gene chromosome 8 open reading frame 58

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Next-generation sequencing methylation profiling of subjects with obesity identifies novel gene changes. Day SE, et al. Clin Epigenetics, 2016. PMID 27437034, Free PMC Article
  2. Essential roles of ERK-mediated phosphorylation of vinexin in cell spreading, migration and anchorage-independent growth. Mizutani K, et al. Oncogene, 2007 Nov 1. PMID 17486060
  3. Vinexin forms a signaling complex with Sos and modulates epidermal growth factor-induced c-Jun N-terminal kinase/stress-activated protein kinase activities. Akamatsu M, et al. J Biol Chem, 1999 Dec 10. PMID 10585480
  4. Increased SORBS3 expression in brain ageing contributes to autophagic decline via YAP1-WWTR1/TAZ signaling. Park SJ, et al. Autophagy, 2023 Mar. PMID 35822241, Free PMC Article
  5. Vinexin contributes to autophagic decline in brain ageing across species. Park SJ, et al. Cell Death Differ, 2022 May. PMID 34848853, Free PMC Article

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Vinexin contributes to autophagic decline in brain ageing across species.
    Title: Vinexin contributes to autophagic decline in brain ageing across species.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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

  1. NG_030586.2 RefSeqGene

    Range
    11956..35817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

  2. 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

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    22544973..22575788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421214.1 → XP_047277170.1  vinexin isoform X1

  2. XM_047421216.1 → XP_047277172.1  vinexin isoform X1

  3. XM_047421215.1 → XP_047277171.1  vinexin isoform X1

  4. XM_047421213.1 → XP_047277169.1  vinexin isoform X1

  5. 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

  6. XM_047421217.1 → XP_047277173.1  vinexin isoform X3

  7. XM_047421218.1 → XP_047277174.1  vinexin isoform X4

  8. XM_047421219.1 → XP_047277175.1  vinexin isoform X5

  9. 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)

  10. 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)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    22815216..22849637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359530.1 → XP_054215505.1  vinexin isoform X3

  2. XM_054359528.1 → XP_054215503.1  vinexin isoform X1

  3. XM_054359529.1 → XP_054215504.1  vinexin isoform X2

  4. XM_054359531.1 → XP_054215506.1  vinexin isoform X4

  5. XM_054359532.1 → XP_054215507.1  vinexin isoform X5

  6. XM_054359534.1 → XP_054215509.1  vinexin isoform X5

  7. XM_054359533.1 → XP_054215508.1  vinexin isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60504.2 GenPept UniProtKB/Swiss-Prot:O60504

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