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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
  • Sorbin And SH3 Domain-Containing Protein 1 3
  • 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 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include protein kinase binding and cytoskeletal protein binding. An important paralog of this gene is SORBS2.

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

Additional gene information for SORBS1 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H095558 1.6 FANTOM5 ENCODE dbSUPER 20 +0.6 571 4 HDGF ARID4B SIN3A ZNF2 YY1 ZNF416 ZNF548 SP3 SP5 MXD4 TCTN3 SORBS1 CCNJ ZNF518A ALDH18A1 ACSM6 GC10M095545
GH10H095472 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15 +83.4 83395 11 PKNOX1 FOXA2 ATF1 MLX ARID4B FEZF1 DMAP1 ZNF2 YY1 SLC30A9 SORBS1 GC10M095525 PIR43800
GH10H095528 1.6 Ensembl ENCODE dbSUPER 11.9 +24.1 24128 17 HDGF PKNOX1 FOXA2 MLX ARNT FEZF1 YY1 SLC30A9 ZNF766 CBX5 SORBS1 ZNF518A CCNJ GC10M095545 GC10M095525
GH10H095493 1.4 Ensembl ENCODE dbSUPER 12 +67.6 67600 1 HDAC1 PKNOX1 ZBTB40 TCF12 GATA2 FOS ATF7 ETV6 USF2 REST SORBS1 GC10M095525 PIR43800
GH10H095501 1.4 Ensembl ENCODE dbSUPER 11.3 +58.9 58927 2 FOXA2 ZSCAN4 DNMT3B RAD21 RARA YY1 ZNF121 SCRT2 CEBPB REST SORBS1 GC10M095525 PIR43800
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000031971 420 2000 HDGF ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF548 SP3 SP5 MXD4

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 AFDN and with VCL. AFDN 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

Post-translational modifications for SORBS1 Gene

No data available for DME Specific Peptides for SORBS1 Gene

Domains & Families for SORBS1 Gene

Gene Families for SORBS1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SORBS1 Gene

Suggested Antigen Peptide Sequences for SORBS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for SORBS1 Gene

Gene Ontology (GO) - Molecular Function for SORBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding TAS 10085297
GO:0005070 SH3/SH2 adaptor activity ISS 9447983
GO:0005158 insulin receptor binding IDA 11374898
GO:0005515 protein binding IPI 11371513
GO:0008092 cytoskeletal protein binding TAS 10085297
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:

Animal Model Products

CRISPR Products

miRNA for SORBS1 Gene

miRTarBase miRNAs that target SORBS1

Clone Products

  • Applied Biological Materials Clones for SORBS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SORBS1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (3)
  • Plasma membrane (3)
  • Centrosome (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SORBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber ISS --
GO:0005634 nucleus IEA,IDA 11371513
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
GO:0005829 cytosol TAS,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:0006810 transport IEA --
GO:0006936 muscle contraction TAS --
GO:0007015 actin filament organization IEA --
GO:0007160 cell-matrix adhesion TAS 10085297
GO:0008286 insulin receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with SORBS1: view

Drugs & Compounds for SORBS1 Gene

(2) Drugs for SORBS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) 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

Clone Products

  • Applied Biological Materials Clones for SORBS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SORBS1 Gene



Protein tissue co-expression partners for SORBS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SORBS1 Gene:

SORBS1

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.

Evidence on tissue expression from TISSUES for SORBS1 Gene

  • Muscle(4.5)
  • Nervous system(4.4)
  • Liver(4.3)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with SORBS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SORBS1 33 34
  • 99.46 (n)
cow
(Bos Taurus)
Mammalia SORBS1 33
  • 89.95 (n)
-- 34
  • 38 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Sorbs1 33 16 34
  • 87.64 (n)
dog
(Canis familiaris)
Mammalia SORBS1 33 34
  • 87.59 (n)
rat
(Rattus norvegicus)
Mammalia Sorbs1 33
  • 86.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SORBS1 34
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SORBS1 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves SORBS1 33 34
  • 76.1 (n)
lizard
(Anolis carolinensis)
Reptilia SORBS1 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sorbs1 33
  • 65.52 (n)
zebrafish
(Danio rerio)
Actinopterygii sorbs1 34
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CAP 34
  • 11 (a)
OneToMany
Species where no ortholog for SORBS1 was found in the sources mined by GeneCards:
  • 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_035661 A breast cancer sample
rs193920900 Uncertain significance 95,337,020(-) CCCAC(A/C/G/T)ATCAG intron-variant, reference, missense
rs1000004287 -- 95,455,859(+) TGAGC(C/T)TGGGT intron-variant
rs1000008956 -- 95,358,962(+) CACCC(A/G)TATTC intron-variant
rs1000018071 -- 95,324,852(+) TCCAA(C/T)AATAC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv161e214 CNV gain 21293372
dgv502n106 CNV deletion 24896259
esv22688 CNV gain+loss 19812545
esv2494950 CNV insertion 19546169
esv2739718 CNV deletion 23290073
esv2865458 CNV insertion 24192839
esv3304442 CNV mobile element insertion 20981092
esv3345673 CNV insertion 20981092
esv3371646 CNV insertion 20981092
esv3546710 CNV deletion 23714750
esv3624276 CNV gain 21293372
esv3624278 CNV loss 21293372
esv3624279 CNV loss 21293372
esv4805 OTHER sequence alteration 18987735
esv5409 CNV loss 18987735
esv9481 CNV loss 19470904
nsv1045002 CNV loss 25217958
nsv1069505 CNV deletion 25765185
nsv1110852 OTHER inversion 24896259
nsv1113333 CNV deletion 24896259
nsv1129498 CNV tandem duplication 24896259
nsv473767 CNV novel sequence insertion 20440878
nsv474983 CNV novel sequence insertion 20440878
nsv475204 CNV novel sequence insertion 20440878
nsv475679 CNV novel sequence insertion 20440878
nsv512178 CNV loss 21212237
nsv552022 CNV loss 21841781
nsv958331 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 WH … Chuang LM (Human molecular genetics 2001) 3 4 22 45 60
  2. Polymorphism in the sorbin and SH3-domain-containing-1 (SORBS1) gene and the risk of brain infarction in the Japanese population: the Fukuoka Stroke Registry and the Hisayama study. (PMID: 18394047) Hagiwara N … Hisayama study (European journal of neurology 2008) 3 22 45 60
  3. Paxillin and ponsin interact in nascent costameres of muscle cells. (PMID: 17462669) Gehmlich K … Fürst DO (Journal of molecular biology 2007) 3 4 22 60
  4. Frequency of the T228A polymorphism in the SORBS1 gene in children with premature pubarche and in adolescent girls with hyperandrogenism. (PMID: 12849814) Witchel SF … Kammerer C (Fertility and sterility 2003) 3 22 45 60
  5. Cloning, mapping, and characterization of the human sorbin and SH3 domain containing 1 (SORBS1) gene: a protein associated with c-Abl during insulin signaling in the hepatoma cell line Hep3B. (PMID: 11374898) Lin WH … Chuang LM (Genomics 2001) 3 4 22 60

Products for SORBS1 Gene

Sources for SORBS1 Gene

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