PAX1
entrez
5075
canonical
uniprot
P15863
canonical
ensembl
ENSG00000125813
resolver
ensp
ENSP00000381499
resolver
ensp
ENSP00000481334
resolver
enst
ENST00000613128
resolver
genesymbol
PAX1
resolver
genesymbol_syn
HUP48
resolver
hgnc
HGNC:8615
resolver
uniprot
A0A087WXV5
resolver
uniprot
B4E0D6
resolver
uniprot
Q642X9
resolver
uniprot
Q6NTC0
resolver
uniprot
Q9Y558
resolver
uniprot_entry
A0A087WXV5_HUMAN
resolver
uniprot_entry
PAX1_HUMAN
resolver
uniprot_sec
B4E0D6
resolver
uniprot_sec
Q642X9
resolver
uniprot_sec
Q6NTC0
resolver
uniprot_sec
Q9Y558
resolver
amino_acid_sequence
MKFTLGLGSRAWRVSWEGAAAAAAGPGAGGSALRCRAQRVSSPRLGRRGSRLSGALPLCLSRGGGGAQALPDCAGPSPGHPGHPGARQLAGPLAMEQTYGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTTPNVVKHIRDYKQGDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGSLAQPGPYEASKQPPSQPTLPYNHIYQYPYPSPVSPTGAKMGSHPGVPGTAGHVSIPRSWPSAHSVSNILGIRTFMEQTGALAGSEGTAYSPKMEDWAGVNRTAFPATPAVNGLEKPALEADIKYTQSASTLSAVGGFLPACAYPASNQHGVYSAPGGGYLAPGPPWPPAQGPPLAPPGAGVAVHGGELAAAMTFKHPSREGSLPAPAARPRTPSVAYTDCPSRPRPPRGSSPRTRARRERQADPGAQVCAAAPAIGTGRIGGLAEEEASAGPRGARPASPQAQPCLWPDPPHFLYWSGFLGFSELGF
uniprot
proteins
disease_involvement
DISEASE: Otofaciocervical syndrome 2, with T-cell deficiency (OTFCS2) [MIM:615560]: An autosomal recessive disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. Some patients also exhibit altered thymus development with T-cell immunodeficiency. {ECO:0000269|PubMed:23851939}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
55499
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23851939
uniprot
proteins
pubmed
2501086
uniprot
proteins
pubmed
8863157
uniprot
proteins
sequence_length
534
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins