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Aliases for SORBS1 Gene

Aliases for SORBS1 Gene

  • Sorbin And SH3 Domain Containing 1 2 3 5
  • C-Cbl-Associated Protein 2 4
  • SH3 Domain Protein 5 3 4
  • Ponsin 3 4
  • SH3P12 3 4
  • SH3D5 3 4
  • CAP 3 4
  • Fas-Ligand Associated Factor 2 3
  • SH3-Domain Protein 5 (Ponsin) 2
  • C-Cbl Associated Protein 3
  • KIAA0894 4
  • KIAA1296 4
  • FLAF2 3
  • R85FL 3
  • SORB1 3

External Ids for SORBS1 Gene

Previous HGNC Symbols for SORBS1 Gene

  • SH3D5

Previous GeneCards Identifiers for SORBS1 Gene

  • GC10M095964
  • GC10M096305
  • GC10M097202
  • GC10M096736
  • GC10M097061
  • GC10M090698

Summaries for SORBS1 Gene

Entrez Gene Summary for SORBS1 Gene

  • This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for SORBS1 Gene

SORBS1 (Sorbin And SH3 Domain Containing 1) is a Protein Coding gene. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Smooth Muscle Contraction. GO annotations related to this gene include protein kinase binding and cytoskeletal protein binding. An important paralog of this gene is SORBS3.

UniProtKB/Swiss-Prot for SORBS1 Gene

  • Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity).

Gene Wiki entry for SORBS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SORBS1 Gene

Genomics for SORBS1 Gene

Regulatory Elements for SORBS1 Gene

Enhancers for SORBS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SORBS1 on UCSC Golden Path with GeneCards custom track

Promoters for SORBS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SORBS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SORBS1 Gene

Chromosome:
10
Start:
95,311,771 bp from pter
End:
95,561,420 bp from pter
Size:
249,650 bases
Orientation:
Minus strand

Genomic View for SORBS1 Gene

Genes around SORBS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SORBS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SORBS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SORBS1 Gene

Proteins for SORBS1 Gene

  • Protein details for SORBS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX66-SRBS1_HUMAN
    Recommended name:
    Sorbin and SH3 domain-containing protein 1
    Protein Accession:
    Q9BX66
    Secondary Accessions:
    • A0AED4
    • A6NEK3
    • A6NID8
    • A6NJS4
    • A7MD40
    • D3DR42
    • O43857
    • Q5T923
    • Q5T924
    • Q5T927
    • Q5T928
    • Q5T929
    • Q5T930
    • Q5T931
    • Q5T932
    • Q7LBE5
    • Q8IVK0
    • Q8IVQ4
    • Q96KF3
    • Q96KF4
    • Q9BX64
    • Q9BX65
    • Q9P2Q0
    • Q9UFT2
    • Q9UHN7
    • Q9Y338

    Protein attributes for SORBS1 Gene

    Size:
    1292 amino acids
    Molecular mass:
    142513 Da
    Quaternary structure:
    • Interacts (via third SH3 domain) with the Ten-1 ICD form of TENM1; the interaction induces the translocation of SORBS1 to the nucleus. Interacts with INSM1 (By similarity). Interacts with the long isoform of MLLT4/afadin and with VCL. MLLT4 and VCL bind to SORBS1 in a competitive manner and do not form a ternary complex. Interacts with ABL1, CBL, CBLB and INPPL1/SHIP2 through the third SH3 domain. Interaction with ABL1 occurs only after insulin stimulation while this has no effect on the interaction with INPPL1. Interacts with the insulin receptor but dissociates from it following insulin stimulation. Also interacts with SCA7, PTK2/FAK1 and flotillin. Interacts (via SH3 domain 2) with PXN.
    SequenceCaution:
    • Sequence=AAB93496.1; Type=Frameshift; Positions=861, 867, 885; Evidence={ECO:0000305}; Sequence=BAA92534.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SORBS1 Gene

    Alternative splice isoforms for SORBS1 Gene

neXtProt entry for SORBS1 Gene

Proteomics data for SORBS1 Gene at MOPED

Post-translational modifications for SORBS1 Gene

No data available for DME Specific Peptides for SORBS1 Gene

Domains & Families for SORBS1 Gene

Protein Domains for SORBS1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SORBS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BX66

UniProtKB/Swiss-Prot:

SRBS1_HUMAN :
  • Contains 3 SH3 domains.
Domain:
  • Contains 3 SH3 domains.
  • Contains 1 SoHo domain.
genes like me logo Genes that share domains with SORBS1: view

No data available for Gene Families for SORBS1 Gene

Function for SORBS1 Gene

Molecular function for SORBS1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity).

Gene Ontology (GO) - Molecular Function for SORBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 11371513
genes like me logo Genes that share ontologies with SORBS1: view
genes like me logo Genes that share phenotypes with SORBS1: view

Animal Models for SORBS1 Gene

MGI Knock Outs for SORBS1:

miRNA for SORBS1 Gene

miRTarBase miRNAs that target SORBS1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SORBS1 Gene

Localization for SORBS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SORBS1 Gene

Cell junction, adherens junction. Cell membrane. Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Nucleus. Nucleus matrix. Note=Colocalizes with the Ten-1 ICD form of TENM1 in the nucleus (By similarity). Colocalizes with actin stress fibers. Also detected at the plasma membrane and in neuronal intranuclear inclusions. Colocalized with PXN at focal adhesions during myogenic differentiation. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SORBS1 Gene COMPARTMENTS Subcellular localization image for SORBS1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SORBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber ISS --
GO:0005634 nucleus IDA 11371513
GO:0005737 cytoplasm IDA --
GO:0005813 centrosome IDA --
GO:0005913 cell-cell adherens junction ISS --
genes like me logo Genes that share ontologies with SORBS1: view

Pathways & Interactions for SORBS1 Gene

genes like me logo Genes that share pathways with SORBS1: view

Pathways by source for SORBS1 Gene

SIGNOR curated interactions for SORBS1 Gene

Activates:

Gene Ontology (GO) - Biological Process for SORBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0007160 cell-matrix adhesion TAS 10085297
GO:0032869 cellular response to insulin stimulus ISS 11001060
GO:0090004 positive regulation of establishment of protein localization to plasma membrane ISS --
genes like me logo Genes that share ontologies with SORBS1: view

Drugs & Compounds for SORBS1 Gene

(1) Drugs for SORBS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for SORBS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SORBS1: view

Transcripts for SORBS1 Gene

Unigene Clusters for SORBS1 Gene

Sorbin and SH3 domain containing 1:
Representative Sequences:

CRISPR Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SORBS1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - -
SP6:
SP7:
SP8: - - - - - -
SP9:
SP10:
SP11: -
SP12:
SP13: - - - -
SP14:
SP15: - - - -
SP16:
SP17:
SP18: - -
SP19:
SP20:
SP21:

ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40a · 40b ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7: - - - - - - - -
SP8:
SP9: - - - -
SP10: - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

ExUns: 41 ^ 42 ^ 43 ^ 44 ^ 45a · 45b · 45c · 45d · 45e · 45f
SP1: -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6: - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14: - -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21: -

Relevant External Links for SORBS1 Gene

GeneLoc Exon Structure for
SORBS1
ECgene alternative splicing isoforms for
SORBS1

Expression for SORBS1 Gene

mRNA expression in normal human tissues for SORBS1 Gene

mRNA differential expression in normal tissues according to GTEx for SORBS1 Gene

This gene is overexpressed in Esophagus - Muscularis (x4.2).

Protein differential expression in normal tissues from HIPED for SORBS1 Gene

This gene is overexpressed in Colon muscle (17.2), Urinary Bladder (11.8), and Seminal vesicle (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SORBS1 Gene



SOURCE GeneReport for Unigene cluster for SORBS1 Gene Hs.38621

mRNA Expression by UniProt/SwissProt for SORBS1 Gene

Q9BX66-SRBS1_HUMAN
Tissue specificity: Detected in skeletal muscle (at protein level). Widely expressed with highest levels in heart and skeletal muscle.
genes like me logo Genes that share expression patterns with SORBS1: view

Protein tissue co-expression partners for SORBS1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SORBS1 Gene

Orthologs for SORBS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SORBS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SORBS1 35
  • 89.95 (n)
  • 92.84 (a)
-- 36
  • 38 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia SORBS1 35
  • 87.59 (n)
  • 87.12 (a)
SORBS1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sorbs1 35
  • 87.64 (n)
  • 88.14 (a)
Sorbs1 16
Sorbs1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SORBS1 35
  • 99.46 (n)
  • 99.3 (a)
SORBS1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sorbs1 35
  • 86.35 (n)
  • 85.53 (a)
oppossum
(Monodelphis domestica)
Mammalia SORBS1 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SORBS1 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves SORBS1 35
  • 76.1 (n)
  • 76.63 (a)
SORBS1 36
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SORBS1 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sorbs1 35
  • 65.52 (n)
  • 62.55 (a)
zebrafish
(Danio rerio)
Actinopterygii sorbs1 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CAP 36
  • 11 (a)
OneToMany
Species with no ortholog for SORBS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SORBS1 Gene

ENSEMBL:
Gene Tree for SORBS1 (if available)
TreeFam:
Gene Tree for SORBS1 (if available)

Paralogs for SORBS1 Gene

Paralogs for SORBS1 Gene

(6) SIMAP similar genes for SORBS1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SORBS1: view

Variants for SORBS1 Gene

Sequence variations from dbSNP and Humsavar for SORBS1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_019653 -
rs2281939 - 95,414,595(-) GCCAG(A/G)CGCCA intron-variant, reference, missense
VAR_035661 A breast cancer sample
rs943542 - 95,432,567(+) TTGTA(A/G)GATCC reference, missense
rs7081076 - 95,414,780(+) CAGTG(A/C)CTTCT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SORBS1 Gene

Variant ID Type Subtype PubMed ID
esv22688 CNV Gain+Loss 19812545
esv4805 CNV Duplication 18987735
nsv512178 CNV Loss 21212237
esv5409 CNV Deletion 18987735
esv2739718 CNV Deletion 23290073
esv9481 CNV Loss 19470904
esv2494950 CNV Insertion 19546169
esv272336 CNV Insertion 20981092
esv268720 CNV Insertion 20981092

Variation tolerance for SORBS1 Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.69; 73.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SORBS1 Gene

Human Gene Mutation Database (HGMD)
SORBS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SORBS1 Gene

Disorders for SORBS1 Gene

Relevant External Links for SORBS1

Genetic Association Database (GAD)
SORBS1
Human Genome Epidemiology (HuGE) Navigator
SORBS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SORBS1

No disorders were found for SORBS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SORBS1 Gene

Publications for SORBS1 Gene

  1. Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes. (PMID: 11532984) Lin W.-H. … Chuang L.-M. (Hum. Mol. Genet. 2001) 3 4 23 48 67
  2. Ponsin/SH3P12: an l-afadin- and vinculin-binding protein localized at cell-cell and cell-matrix adherens junctions. (PMID: 10085297) Mandai K. … Takai Y. (J. Cell Biol. 1999) 2 3 23
  3. Ponsin interacts with Nck adapter proteins: implications for a role in cytoskeletal remodelling during differentiation of skeletal muscle cells. (PMID: 20129698) Gehmlich K. … FA1rst D.O. (Eur. J. Cell Biol. 2010) 3 23
  4. CAP (Cbl associated protein) regulates receptor-mediated endocytosis. (PMID: 19116150) Tosoni D. … Cestra G. (FEBS Lett. 2009) 3 23
  5. Cbl-associated protein is tyrosine phosphorylated by c-Abl and c-Src kinases. (PMID: 19891780) Fernow I. … Tikkanen R. (BMC Cell Biol. 2009) 3 23

Products for SORBS1 Gene

Sources for SORBS1 Gene

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