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

    Gene ID: 10174, updated on 21-Mar-2023

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SORBS3 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22544973..22575788)
    RS_2023_03 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 RNA, U6 small nuclear 336, pseudogene Neighboring gene protein phosphatase 3 catalytic subunit gamma Neighboring gene uncharacterized LOC124901905 Neighboring gene BTF3 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 12029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22439222-22439914 Neighboring gene PDZ and LIM domain 2 Neighboring gene uncharacterized LOC107986876 Neighboring gene chromosome 8 open reading frame 58

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 IEA
    Inferred from Electronic Annotation
    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
    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 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001018003.3NP_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/Swiss-Prot
      O60504
      Related
      ENSP00000429764.2, ENST00000523965.5
      Conserved Domains (3) summary
      cd11918
      Location:272329
      SH3_Vinexin_3; Third (or C-terminal) Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      cd11921
      Location:4195
      SH3_Vinexin_1; First Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      cd11924
      Location:115170
      SH3_Vinexin_2; Second Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
    2. NM_005775.5NP_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, Q9UQE4
      Related
      ENSP00000240123.7, ENST00000240123.12
      Conserved Domains (5) summary
      smart00459
      Location:116165
      Sorb; Sorbin homologous domain
      cd11918
      Location:614671
      SH3_Vinexin_3; Third (or C-terminal) Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      cd11921
      Location:383437
      SH3_Vinexin_1; First Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      cd11924
      Location:457512
      SH3_Vinexin_2; Second Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      pfam16214
      Location:298373
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    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_047421214.1XP_047277170.1  vinexin isoform X1

    2. XM_047421216.1XP_047277172.1  vinexin isoform X1

    3. XM_047421215.1XP_047277171.1  vinexin isoform X1

    4. XM_047421213.1XP_047277169.1  vinexin isoform X1

    5. XM_006716266.2XP_006716329.1  vinexin isoform X2

      Conserved Domains (5) summary
      smart00459
      Location:155204
      Sorb; Sorbin homologous domain
      cd11918
      Location:653710
      SH3_Vinexin_3; Third (or C-terminal) Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      cd11921
      Location:422476
      SH3_Vinexin_1; First Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      cd11924
      Location:496551
      SH3_Vinexin_2; Second Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      pfam16214
      Location:337412
      AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    6. XM_047421217.1XP_047277173.1  vinexin isoform X3

    7. XM_047421218.1XP_047277174.1  vinexin isoform X4

    8. XM_047421219.1XP_047277175.1  vinexin isoform X5

    9. XM_017012945.2XP_016868434.1  vinexin isoform X5

      UniProtKB/Swiss-Prot
      O60504
      Conserved Domains (3) summary
      cd11918
      Location:272329
      SH3_Vinexin_3; Third (or C-terminal) Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      cd11921
      Location:4195
      SH3_Vinexin_1; First Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      cd11924
      Location:115170
      SH3_Vinexin_2; Second Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
    10. XM_017012946.2XP_016868435.1  vinexin isoform X5

      UniProtKB/Swiss-Prot
      O60504
      Conserved Domains (3) summary
      cd11918
      Location:272329
      SH3_Vinexin_3; Third (or C-terminal) Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      cd11921
      Location:4195
      SH3_Vinexin_1; First Src Homology 3 domain of Vinexin, also called Sorbin and SH3 domain containing 3 (Sorbs3)
      cd11924
      Location:115170
      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_054359530.1XP_054215505.1  vinexin isoform X3

    2. XM_054359528.1XP_054215503.1  vinexin isoform X1

    3. XM_054359529.1XP_054215504.1  vinexin isoform X2

    4. XM_054359531.1XP_054215506.1  vinexin isoform X4

    5. XM_054359532.1XP_054215507.1  vinexin isoform X5

    6. XM_054359534.1XP_054215509.1  vinexin isoform X5

    7. XM_054359533.1XP_054215508.1  vinexin isoform X5