FAM50A
entrez
9130
canonical
uniprot
Q14320
canonical
ensembl
ENSG00000071859
resolver
ensp
ENSP00000377225
resolver
enst
ENST00000393600
resolver
genesymbol
FAM50A
resolver
genesymbol_syn
DXS9928E
resolver
genesymbol_syn
HXC26
resolver
genesymbol_syn
XAP5
resolver
hgnc
HGNC:18786
resolver
uniprot
A8KAQ4
resolver
uniprot
B2R997
resolver
uniprot
Q5HY37
resolver
uniprot
Q6PJH5
resolver
uniprot_entry
FA50A_HUMAN
resolver
uniprot_sec
A8KAQ4
resolver
uniprot_sec
B2R997
resolver
uniprot_sec
Q5HY37
resolver
uniprot_sec
Q6PJH5
resolver
amino_acid_sequence
MAQYKGAASEAGRAMHLMKKREKQREQMEQMKQRIAEENIMKSNIDKKFSAHYDAVEAELKSSTVGLVTLNDMKAKQEALVKEREKQLAKKEQSKELQMKLEKLREKERKKEAKRKISSLSFTLEEEEEGGEEEEEAAMYEEEMEREEITTKKRKLGKNPDVDTSFLPDRDREEEENRLREELRQEWEAKQEKIKSEEIEITFSYWDGSGHRRTVKMRKGNTMQQFLQKALEILRKDFSELRSAGVEQLMYIKEDLIIPHHHSFYDFIVTKARGKSGPLFNFDVHDDVRLLSDATVEKDESHAGKVVLRSWYEKNKHIFPASRWEPYDPEKKWDKYTIR
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked, syndromic, Armfield type (MRXSA) [MIM:300261]: An X-linked recessive disorder characterized by global developmental delay with impaired intellectual development, walking difficulties and poor or absent speech. Affected individuals display a distinctive phenotype characterized by postnatal growth retardation, variable head circumference with a prominent forehead and dysmorphic facial features, ocular abnormalities, and seizures. {ECO:0000269|PubMed:32703943}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probably involved in the regulation of pre-mRNA splicing. {ECO:0000269|PubMed:32703943}.
uniprot
proteins
mass_dalton
40242
uniprot
proteins
protein_family
FAM50 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
32703943
uniprot
proteins
pubmed
8733135
uniprot
proteins
pubmed
9039504
uniprot
proteins
pubmed
9339379
uniprot
proteins
sequence_length
339
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:32703943}.
uniprot
proteins