SORBS1
Sorbin and SH3 domain-containing protein 1
Also known as: CAP, FLJ12406, KIAA1296, ponsin, SH3D5, sh3p12, SRBS1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BX66
- Gene
- SORBS1
- Ensembl
- ENSG00000095637
- Chromosome
- 10
- Canonical length
- 1292 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Focal adhesion sites,Centrosome
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
1292 residues, UniProt reviewed canonical sequence.
>Q9BX66|SORBS1
1 MSSECDGGSK AVMNGLAPGS NGQDKATADP LRARSISAVK IIPVKTVKNA SGLVLPTDMD
61 LTKICTGKGA VTLRASSSYR ETPSSSPASP QETRQHESKP GLEPEPSSAD EWRLSSSADA
121 NGNAQPSSLA AKGYRSVHPN LPSDKSQDAT SSSAAQPEVI VVPLYLVNTD RGQEGTARPP
181 TPLGPLGCVP TIPATASAAS PLTFPTLDDF IPPHLQRWPH HSQPARASGS FAPISQTPPS
241 FSPPPPLVPP APEDLRRVSE PDLTGAVSST DSSPLLNEVS SSLIGTDSQA FPSVSKPSSA
301 YPSTTIVNPT IVLLQHNREQ QKRLSSLSDP VSERRVGEQD SAPTQEKPTS PGKAIEKRAK
361 DDSRRVVKST QDLSDVSMDE VGIPLRNTER SKDWYKTMFK QIHKLNRDTP EENPYFPTYK
421 FPELPEIQQT SEEDNPYTPT YQFPASTPSP KSEDDDSDLY SPRYSFSEDT KSPLSVPRSK
481 SEMSYIDGEK VVKRSATLPL PARSSSLKSS SERNDWEPPD KKVDTRKYRA EPKSIYEYQP
541 GKSSVLTNEK MSRDISPEEI DLKNEPWYKF FSELEFGKPP PKKIWDYTPG DCSILPREDR
601 KTNLDKDLSL CQTELEADLE KMETLNKAPS ANVPQSSAIS PTPEISSETP GYIYSSNFHA
661 VKRESDGAPG DLTSLENERQ IYKSVLEGGD IPLQGLSGLK RPSSSASTKD SESPRHFIPA
721 DYLESTEEFI RRRHDDKEKL LADQRRLKRE QEEADIAARR HTGVIPTHHQ FITNERFGDL
781 LNIDDTAKRK SGSEMRPARA KFDFKAQTLK ELPLQKGDIV YIYKQIDQNW YEGEHHGRVG
841 IFPRTYIELL PPAEKAQPKK LTPVQVLEYG EAIAKFNFNG DTQVEMSFRK GERITLLRQV
901 DENWYEGRIP GTSRQGIFPI TYVDVIKRPL VKNPVDYMDL PFSSSPSRSA TASPQFSSHS
961 KLITPAPSSL PHSRRALSPE MHAVTSEWIS LTVGVPGRRS LALTPPLPPL PEASIYNTDH
1021 LALSPRASPS LSLSLPHLSW SDRPTPRSVA SPLALPSPHK TYSLAPTSQA SLHMNGDGGV
1081 HTPSSGIHQD SFLQLPLGSS DSVISQLSDA FSSQSKRQPW REESGQYERK AERGAGERGP
1141 GGPKISKKSC LKPSDVVRCL STEQRLSDLN TPEESRPGKP LGSAFPGSEA EQTERHRGGE
1201 QAGRKAARRG GSQQPQAQQR RVTPDRSQTS QDLFSYQALY SYIPQNDDEL ELRDGDIVDV
1261 MEKCDDGWFV GTSRRTKQFG TFPGNYVKPL YLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SORBS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.63
- Highest tissue expression
- 483 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 483 nTPM
- colon: 421 nTPM
- adipose tissue: 348 nTPM
- heart muscle: 329 nTPM
- urinary bladder: 328 nTPM
- skeletal muscle: 246 nTPM
Single-cell type
- smooth muscle cells: 2,332 nCPM
- cardiomyocytes: 2,245 nCPM
- adipocytes: 1,968 nCPM
- myonuclei: 1,611 nCPM
- bergmann glia: 1,572 nCPM
- astrocytes: 1,465 nCPM
Immune cell
- basophil: 6.1 nTPM
- eosinophil: 1.2 nTPM
- intermediate monocyte: 0.6 nTPM
- MAIT T-cell: 0.5 nTPM
- gdT-cell: 0.4 nTPM
- NK-cell: 0.4 nTPM
Brain region
- hypothalamus: 362 nTPM
- medulla oblongata: 358 nTPM
- midbrain: 352 nTPM
- basal ganglia: 324 nTPM
- cerebral cortex: 314 nTPM
- spinal cord: 303 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.59
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.5
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell-matrix adhesion
- cell-substrate adhesion
- cellular response to insulin stimulus
- focal adhesion assembly
- insulin receptor signaling pathway
- positive regulation of D-glucose import
- positive regulation of glycogen biosynthetic process
- positive regulation of insulin receptor signaling pathway
- positive regulation of lipid biosynthetic process
- positive regulation of protein localization to plasma membrane
- stress fiber assembly
Molecular functions
- actin binding
- cytoskeletal protein binding
- insulin receptor binding
- signaling receptor complex adaptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- SoHo domain
- SH3-like domain superfamily
- Endophilin/SH3RF
- SH3 domain
- Sorbin homologous domain
- Variant SH3 domain
- Variant SH3 domain
- Sorbin and SH3 domain-containing protein 1, third SH3 domain
- Sorbin and SH3 domain-containing protein 1, first SH3 domain
- Sorbin and SH3 domain-containing protein 1, second SH3 domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SORBS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SORBS1 as an antibody target. Whether an autoantibody or antibody against SORBS1 could matter depends on whether native SORBS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SORBS1 is annotated at the cell surface, where native SORBS1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SORBS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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