SASH3
entrez
54440
canonical
uniprot
O75995
canonical
ensembl
ENSG00000122122
resolver
ensp
ENSP00000349359
resolver
enst
ENST00000356892
resolver
genesymbol
SASH3
resolver
genesymbol_syn
CXorf9
resolver
genesymbol_syn
SLY
resolver
hgnc
HGNC:15975
resolver
uniprot
A6NCH1
resolver
uniprot
A8K7K8
resolver
uniprot
Q5JZ38
resolver
uniprot_entry
SASH3_HUMAN
resolver
uniprot_sec
A6NCH1
resolver
uniprot_sec
A8K7K8
resolver
uniprot_sec
Q5JZ38
resolver
amino_acid_sequence
MLRRKPSNASEKEPTQKKKLSLQRSSSFKDFAKSKPSSPVVSEKEFNLDDNIPEDDSGVPTPEDAGKSGKKLGKKWRAVISRTMNRKMGKMMVKALSEEMADTLEEGSASPTSPDYSLDSPGPEKMALAFSEQEEHELPVLSRQASTGSELCSPSPGSGSFGEEPPAPQYTGPFCGRARVHTDFTPSPYDHDSLKLQKGDVIQIIEKPPVGTWLGLLNGKVGSFKFIYVDVLPEEAVGHARPSRRQSKGKRPKPKTLHELLERIGLEEHTSTLLLNGYQTLEDFKELRETHLNELNIMDPQHRAKLLTAAELLLDYDTGSEEAEEGAESSQEPVAHTVSEPKVDIPRDSGCFEGSESGRDDAELAGTEEQLQGLSLAGAP
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 102 (IMD102) [MIM:301082]: An X-linked recessive disorder characterized by recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopenias that appear in early childhood. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. The disorder may also manifest as a hyperinflammatory state with immune dysregulation. {ECO:0000269|PubMed:33876203, ECO:0000269|PubMed:35464398}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May function as a signaling adapter protein in lymphocytes. {ECO:0000250|UniProtKB:Q8K352}.
uniprot
proteins
mass_dalton
41595
uniprot
proteins
pubmed
12515807
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
33876203
uniprot
proteins
pubmed
35464398
uniprot
proteins
sequence_length
380
uniprot
proteins