SASH3

Protein identityUniProt · HPA

UniProt accession

O75995

Gene

SASH3

Ensembl

ENSG00000122122

Chromosome

X

Canonical length

380 aa

Protein class

Disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

380 residues, UniProt reviewed canonical sequence.

>O75995|SASH3
     1  MLRRKPSNAS EKEPTQKKKL SLQRSSSFKD FAKSKPSSPV VSEKEFNLDD NIPEDDSGVP
    61  TPEDAGKSGK KLGKKWRAVI SRTMNRKMGK MMVKALSEEM ADTLEEGSAS PTSPDYSLDS
   121  PGPEKMALAF SEQEEHELPV LSRQASTGSE LCSPSPGSGS FGEEPPAPQY TGPFCGRARV
   181  HTDFTPSPYD HDSLKLQKGD VIQIIEKPPV GTWLGLLNGK VGSFKFIYVD VLPEEAVGHA
   241  RPSRRQSKGK RPKPKTLHEL LERIGLEEHT STLLLNGYQT LEDFKELRET HLNELNIMDP
   301  QHRAKLLTAA ELLLDYDTGS EEAEEGAESS QEPVAHTVSE PKVDIPRDSG CFEGSESGRD
   361  DAELAGTEEQ LQGLSLAGAP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SASH3 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.59

Highest tissue expression

113 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SASH3.

Disease | AllUniProt

Conditions SASH3 is implicated in, by any mechanism.

• Immunodeficiency 102 (IMD102) MIM:301082

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 105 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Immunodeficiency 102
• Primary immunodeficiency or monogenic inflammatory bowel disease

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)

0.57

gnomAD pLI

0.38

gnomAD missense Z

1.85

DepMap mean gene effect

0.11

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

• B cell homeostasis
• B cell proliferation
• CD4-positive, alpha-beta T cell differentiation
• homeostasis of number of cells within a tissue
• positive regulation of adaptive immune response
• positive regulation of B cell proliferation
• positive regulation of CD4-positive, alpha-beta T cell differentiation
• positive regulation of immunoglobulin production
• positive regulation of interleukin-10 production
• positive regulation of interleukin-2 production
• positive regulation of interleukin-4 production
• positive regulation of organ growth
• positive regulation of T cell cytokine production
• positive regulation of T cell proliferation
• positive regulation of tumor necrosis factor production
• positive regulation of type II interferon production
• regulation of intracellular signal transduction
• T cell proliferation

Cellular components

• cytoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• SH3 domain
• Sterile alpha motif domain
• Sterile alpha motif/pointed domain superfamily
• SLy proteins associated disordered region
• SH3-like domain superfamily
• SAM and SH3 domain-containing protein
• SAM domain (Sterile alpha motif)
• Variant SH3 domain
• SLy Proteins Associated Disordered Region
• SAM and SH3 domain-containing protein 3, SH3 domain

KeywordsUniProt

• Phosphoprotein
• SH3 domain