Human Gene SORBS1 (ENST00000361941.7) from GENCODE V44
  Description: 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). (from UniProt Q9BX66)
RefSeq Summary (NM_001034954): 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].
Gencode Transcript: ENST00000361941.7
Gencode Gene: ENSG00000095637.23
Transcript (Including UTRs)
   Position: hg38 chr10:95,315,025-95,441,162 Size: 126,138 Total Exon Count: 31 Strand: -
Coding Region
   Position: hg38 chr10:95,315,059-95,441,135 Size: 126,077 Coding Exon Count: 31 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:95,315,025-95,441,162)mRNA (may differ from genome)Protein (1292 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SRBS1_HUMAN
DESCRIPTION: RecName: Full=Sorbin and SH3 domain-containing protein 1; AltName: Full=Ponsin; AltName: Full=SH3 domain protein 5; AltName: Full=SH3P12; AltName: Full=c-Cbl-associated protein; Short=CAP;
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).
SUBUNIT: 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.
INTERACTION: P00519:ABL1; NbExp=2; IntAct=EBI-433642, EBI-375543; O15357:INPPL1; NbExp=5; IntAct=EBI-433642, EBI-1384248;
SUBCELLULAR LOCATION: Cell junction, adherens junction. Cell membrane. Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Note=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.
TISSUE SPECIFICITY: Detected in skeletal muscle (at protein level). Widely expressed with highest levels in heart and skeletal muscle.
PTM: O-glycosylated (By similarity).
SIMILARITY: Contains 3 SH3 domains.
SIMILARITY: Contains 1 SoHo domain.
SEQUENCE CAUTION: Sequence=AAB93496.1; Type=Frameshift; Positions=861, 867, 885; Sequence=BAA92534.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 175.76 RPKM in Esophagus - Muscularis
Total median expression: 1888.79 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.0027-0.185 Picture PostScript Text
3' UTR -2.7034-0.079 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011511 - SH3_2
IPR001452 - SH3_domain
IPR003127 - Sorb

Pfam Domains:
PF00018 - SH3 domain
PF07653 - Variant SH3 domain
PF02208 - Sorbin homologous domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DL3 - NMR MuPIT 2ECZ - NMR MuPIT 2LJ0 - NMR MuPIT 2LJ1 - NMR MuPIT 2O2W - X-ray MuPIT 2O31 - X-ray MuPIT 2O9S - X-ray MuPIT 2O9V - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9BX66
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005070 SH3/SH2 adaptor activity
GO:0005158 insulin receptor binding
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding

Biological Process:
GO:0006936 muscle contraction
GO:0007015 actin filament organization
GO:0007160 cell-matrix adhesion
GO:0008286 insulin receptor signaling pathway
GO:0009967 positive regulation of signal transduction
GO:0032869 cellular response to insulin stimulus
GO:0043149 stress fiber assembly
GO:0045725 positive regulation of glycogen biosynthetic process
GO:0046326 positive regulation of glucose import
GO:0046889 positive regulation of lipid biosynthetic process
GO:0048041 focal adhesion assembly
GO:1903078 positive regulation of protein localization to plasma membrane
GO:2001275 positive regulation of glucose import in response to insulin stimulus

Cellular Component:
GO:0001725 stress fiber
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0005913 cell-cell adherens junction
GO:0005915 zonula adherens
GO:0005924 cell-substrate adherens junction
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0016363 nuclear matrix
GO:0030054 cell junction
GO:0045121 membrane raft
GO:0005899 insulin receptor complex


-  Descriptions from all associated GenBank mRNAs
  BC152463 - Homo sapiens sorbin and SH3 domain containing 1, mRNA (cDNA clone MGC:176720 IMAGE:8862599), complete cds.
AL117472 - Homo sapiens mRNA; cDNA DKFZp586P1422 (from clone DKFZp586P1422).
AB037717 - Homo sapiens KIAA1296 mRNA for KIAA1296 protein.
AM260536 - Homo sapiens mRNA for ponsin (SORBS1 gene), striated muscle isoform.
AK300407 - Homo sapiens cDNA FLJ60072 complete cds, highly similar to Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 6, mRNA.
AJ489942 - Homo sapiens mRNA for c-Cbl associated protein (CAP gene).
BC042612 - Homo sapiens sorbin and SH3 domain containing 1, mRNA (cDNA clone IMAGE:4821975), complete cds.
AF356525 - Homo sapiens sorbin and SH3 domain containing 1 mRNA, complete cds, alternatively spliced.
AF356526 - Homo sapiens sorbin and SH3 domain containing 1 mRNA, complete cds, alternatively spliced.
AF356527 - Homo sapiens sorbin and SH3 domain containing 1 mRNA, complete cds, alternatively spliced.
AF136380 - Homo sapiens SH3P12 protein mRNA, complete cds.
AF136381 - Homo sapiens c-Cbl-associated protein SH3P12 (SH3P12) mRNA, complete cds.
AF330623 - Homo sapiens brain R85FL mRNA, complete cds.
BC160134 - Synthetic construct Homo sapiens clone IMAGE:100064166, MGC:193249 sorbin and SH3 domain containing 1 (SORBS1) mRNA, encodes complete protein.
AB463276 - Synthetic construct DNA, clone: pF1KA1296, Homo sapiens SORBS1 gene for sorbin and SH3 domain containing 1, without stop codon, in Flexi system.
AM393082 - Synthetic construct Homo sapiens clone IMAGE:100001661 for hypothetical protein (SORBS1 gene).
AK304753 - Homo sapiens cDNA FLJ54732 complete cds, moderately similar to Sorbin and SH3 domain-containing protein 1.
KJ902130 - Synthetic construct Homo sapiens clone ccsbBroadEn_11524 SORBS1 gene, encodes complete protein.
KR710931 - Synthetic construct Homo sapiens clone CCSBHm_00018225 SORBS1 (SORBS1) mRNA, encodes complete protein.
AK022468 - Homo sapiens cDNA FLJ12406 fis, clone MAMMA1002842.
CU692104 - Synthetic construct Homo sapiens gateway clone IMAGE:100020958 5' read SORBS1 mRNA.
AB020701 - Homo sapiens mRNA for KIAA0894 protein, partial cds.
BX640814 - Homo sapiens mRNA; cDNA DKFZp686N08224 (from clone DKFZp686N08224).
AL832353 - Homo sapiens mRNA; cDNA DKFZp451C066 (from clone DKFZp451C066).
AK304130 - Homo sapiens cDNA FLJ53695 complete cds, highly similar to Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 5, mRNA.
AK294924 - Homo sapiens cDNA FLJ53322 complete cds, highly similar to Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 5, mRNA.
AF330624 - Homo sapiens retina R85 mRNA, partial cds.
U70668 - Human Fas-ligand associated factor 2 mRNA, partial cds.
JD514207 - Sequence 495231 from Patent EP1572962.
JD348521 - Sequence 329545 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03320 - PPAR signaling pathway
hsa04520 - Adherens junction
hsa04910 - Insulin signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9BX66 (Reactome details) participates in the following event(s):

R-HSA-445705 Release Of ADP From Myosin
R-HSA-445699 ATP Hydrolysis By Myosin
R-HSA-445700 Myosin Binds ATP
R-HSA-445704 Calcium Binds Caldesmon
R-HSA-445355 Smooth Muscle Contraction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: A0AED4, A6NEK3, A6NID8, A6NJS4, A7MD40, AF356525, D3DR42, ENST00000361941.1, ENST00000361941.2, ENST00000361941.3, ENST00000361941.4, ENST00000361941.5, ENST00000361941.6, KIAA0894, KIAA1296, O43857, Q5T923, Q5T924, Q5T927, Q5T928, Q5T929, Q5T930, Q5T931, Q5T932, Q7LBE5, Q8IVK0, Q8IVQ4, Q96KF3, Q96KF4, Q9BX64, Q9BX65, Q9BX66, Q9P2Q0, Q9UFT2, Q9UHN7, Q9Y338, SH3D5, SRBS1_HUMAN, uc001kkp.1, uc001kkp.2, uc001kkp.3, uc001kkp.4
UCSC ID: ENST00000361941.7
RefSeq Accession: NM_001034954
Protein: Q9BX66 (aka SRBS1_HUMAN or SBS1_HUMAN)
CCDS: CCDS31255.1, CCDS73169.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.