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

Gene ID: 10174, updated on 11-Sep-2019

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
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

Genomic context

See SORBS3 in Genome Data Viewer
Location:
8p21.3
Exon count:
25
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (22544990..22575788)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22402228..22433008)

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 BTF3 pseudogene 3 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 BioSystems

  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
    Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
vinculin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin filament organization IEA
Inferred from Electronic Annotation
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
 
muscle contraction TAS
Traceable Author Statement
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cytoskeleton organization NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of stress fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion HDA PubMed 
colocalizes_with focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_030586.1 RefSeqGene

    Range
    5190..29051
    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
    Related
    ENSP00000240123.7, ENST00000240123.11
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    22544990..22575788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716266.1XP_006716329.1  vinexin isoform X1

    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
  2. XM_005273371.1XP_005273428.1  vinexin isoform X2

    See identical proteins and their annotated locations for XP_005273428.1

    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)
  3. XM_017012944.1XP_016868433.1  vinexin isoform X2

    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)
  4. XM_017012946.1XP_016868435.1  vinexin isoform X2

    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)
  5. XM_017012945.1XP_016868434.1  vinexin isoform X2

    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)
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