Details for: SASH3

Gene ID: 54440

Symbol: SASH3

Ensembl ID: ENSG00000122122

Description: SAM and SH3 domain containing 3

Associated with

  • B cell homeostasis
    (GO:0001782)
  • B cell proliferation
    (GO:0042100)
  • Cd4-positive, alpha-beta t cell differentiation
    (GO:0043367)
  • Cytoplasm
    (GO:0005737)
  • Homeostasis of number of cells within a tissue
    (GO:0048873)
  • Nucleus
    (GO:0005634)
  • Positive regulation of adaptive immune response
    (GO:0002821)
  • Positive regulation of b cell proliferation
    (GO:0030890)
  • Positive regulation of cd4-positive, alpha-beta t cell differentiation
    (GO:0043372)
  • Positive regulation of immunoglobulin production
    (GO:0002639)
  • Positive regulation of interleukin-2 production
    (GO:0032743)
  • Positive regulation of interleukin-4 production
    (GO:0032753)
  • Positive regulation of interleukin-10 production
    (GO:0032733)
  • Positive regulation of organ growth
    (GO:0046622)
  • Positive regulation of t cell cytokine production
    (GO:0002726)
  • Positive regulation of t cell proliferation
    (GO:0042102)
  • Positive regulation of tumor necrosis factor production
    (GO:0032760)
  • Positive regulation of type ii interferon production
    (GO:0032729)
  • T cell proliferation
    (GO:0042098)

Other Information

Genular Protein ID: 2230367585

Symbol: SASH3_HUMAN

Name: SAM and SH3 domain-containing protein 3

UniProtKB Accession Codes:

O75995 A6NCH1 A8K7K8 Q5JZ38

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 5 EPD 1 Ensembl 1 GO 19 Gene3D 2 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 2 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SAM 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12515807

Title: Approaches to define antigen receptor-induced serine kinase signal transduction pathways.

PubMed ID: 12515807

DOI: 10.1074/jbc.m211252200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 33876203

Title: SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

PubMed ID: 33876203

DOI: 10.1182/blood.2020008629

PubMed ID: 35464398

Title: Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.

PubMed ID: 35464398

DOI: 10.3389/fimmu.2022.881206

Sequence Information:

  • Length: 380
  • Mass: 41595
  • Checksum: 6DF3FB7D44797DB3
  • Sequence:
    • MLRRKPSNAS EKEPTQKKKL SLQRSSSFKD FAKSKPSSPV VSEKEFNLDD NIPEDDSGVP 
TPEDAGKSGK KLGKKWRAVI SRTMNRKMGK MMVKALSEEM ADTLEEGSAS PTSPDYSLDS 
PGPEKMALAF SEQEEHELPV LSRQASTGSE LCSPSPGSGS FGEEPPAPQY TGPFCGRARV 
HTDFTPSPYD HDSLKLQKGD VIQIIEKPPV GTWLGLLNGK VGSFKFIYVD VLPEEAVGHA 
RPSRRQSKGK RPKPKTLHEL LERIGLEEHT STLLLNGYQT LEDFKELRET HLNELNIMDP 
QHRAKLLTAA ELLLDYDTGS EEAEEGAESS QEPVAHTVSE PKVDIPRDSG CFEGSESGRD 
DAELAGTEEQ LQGLSLAGAP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.