SH3KBP1
SH3 domain-containing kinase-binding protein 1
Also known as: CIN85, SH3K1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96B97
- Gene
- SH3KBP1
- Ensembl
- ENSG00000147010
- Chromosome
- X
- Canonical length
- 665 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
Canonical amino-acid sequenceUniProt
665 residues, UniProt reviewed canonical sequence.
>Q96B97|SH3KBP1
1 MVEAIVEFDY QAQHDDELTI SVGEIITNIR KEDGGWWEGQ INGRRGLFPD NFVREIKKEM
61 KKDPLTNKAP EKPLHEVPSG NSLLSSETIL RTNKRGERRR RRCQVAFSYL PQNDDELELK
121 VGDIIEVVGE VEEGWWEGVL NGKTGMFPSN FIKELSGESD ELGISQDEQL SKSSLRETTG
181 SESDGGDSSS TKSEGANGTV ATAAIQPKKV KGVGFGDIFK DKPIKLRPRS IEVENDFLPV
241 EKTIGKKLPA TTATPDSSKT EMDSRTKSKD YCKVIFPYEA QNDDELTIKE GDIVTLINKD
301 CIDVGWWEGE LNGRRGVFPD NFVKLLPPDF EKEGNRPKKP PPPSAPVIKQ GAGTTERKHE
361 IKKIPPERPE MLPNRTEEKE RPEREPKLDL QKPSVPAIPP KKPRPPKTNS LSRPGALPPR
421 RPERPVGPLT HTRGDSPKID LAGSSLSGIL DKDLSDRSND IDLEGFDSVV SSTEKLSHPT
481 TSRPKATGRR PPSQSLTSSS LSSPDIFDSP SPEEDKEEHI SLAHRGVDAS KKTSKTVTIS
541 QVSDNKASLP PKPGTMAAGG GGPAPLSSAA PSPLSSSLGT AGHRANSPSL FGTEGKPKME
601 PAASSQAAVE ELRTQVRELR SIIETMKDQQ KREIKQLLSE LDEEKKIRLR LQMEVNDIKK
661 ALQSKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SH3KBP1 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)
- 0.6
- Highest tissue expression
- 58 nTPM
Expression across tissuesHPA
Tissue
- tonsil: 58 nTPM
- lymph node: 57 nTPM
- bone marrow: 50 nTPM
- thymus: 44 nTPM
- appendix: 41 nTPM
- adipose tissue: 38 nTPM
Single-cell type
- neutrophils: 1,676 nCPM
- neutrophil progenitors: 865 nCPM
- microglia: 651 nCPM
- choroid plexus epithelial cells: 587 nCPM
- monocyte progenitors: 490 nCPM
- t-cells: 466 nCPM
Immune cell
- T-reg: 153 nTPM
- memory CD8 T-cell: 131 nTPM
- total PBMC: 128 nTPM
- memory CD4 T-cell: 118 nTPM
- gdT-cell: 117 nTPM
- neutrophil: 117 nTPM
Brain region
- choroid plexus: 73 nTPM
- white matter: 38 nTPM
- midbrain: 32 nTPM
- thalamus: 31 nTPM
- medulla oblongata: 31 nTPM
- hypothalamus: 29 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SH3KBP1.
Disease | AllUniProt
Conditions SH3KBP1 is implicated in, by any mechanism.
- Immunodeficiency 61 (IMD61) MIM:300310
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)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.05
- DepMap mean gene effect
- 0.12
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin filament organization
- apoptotic process
- cell migration
- cell-cell signaling
- cytoskeleton organization
- endocytosis
- positive regulation of B cell activation
- regulation of cell shape
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- SH3-like domain superfamily
- Endophilin/SH3RF
- Variant SH3 domain
- SH3 domain-containing kinase-binding protein 1, first SH3 domain
- SH3 domain-containing kinase-binding protein 1, second SH3 domain
- SH3 domain-containing kinase-binding protein 1, third SH3 domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SH3KBP1 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 SH3KBP1 as an antibody target. Whether an autoantibody or antibody against SH3KBP1 could matter depends on whether native SH3KBP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SH3KBP1 is annotated at the cell surface, where native SH3KBP1 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 SH3KBP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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