PITX1
entrez
5307
canonical
uniprot
P78337
canonical
ensembl
ENSG00000069011
resolver
ensp
ENSP00000265340
resolver
ensp
ENSP00000427542
resolver
enst
ENST00000265340
resolver
enst
ENST00000506438
resolver
genesymbol
PITX1
resolver
genesymbol_syn
BFT
resolver
genesymbol_syn
PTX1
resolver
hgnc
HGNC:9004
resolver
uniprot
A8K3M0
resolver
uniprot
D3DQB0
resolver
uniprot
O14677
resolver
uniprot
O60425
resolver
uniprot
Q9BTI5
resolver
uniprot
X5D9A5
resolver
uniprot_entry
PITX1_HUMAN
resolver
uniprot_entry
X5D9A5_HUMAN
resolver
uniprot_sec
A8K3M0
resolver
uniprot_sec
D3DQB0
resolver
uniprot_sec
O14677
resolver
uniprot_sec
O60425
resolver
uniprot_sec
Q9BTI5
resolver
amino_acid_sequence
MDAFKGGMSLERLPEGLRPPPPPPHDMGPAFHLARPADPREPLENSASESSDTELPEKERGGEPKGPEDSGAGGTGCGGADDPAKKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSMREEIAVWTNLTEPRVRVWFKNRRAKWRKRERNQQLDLCKGGYVPQFSGLVQPYEDVYAAGYSYNNWAAKSLAPAPLSTKSFTFFNSMSPLSSQSMFSAPSSISSMTMPSSMGPGAVPGMPNSGLNNINNLTGSSLNSAMSPGACPYGTPASPYSVYRDTCNSSLASLRLKSKQHSSFGYGGLQGPASGLNACQYNS
uniprot
proteins
disease_involvement
DISEASE: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800]: A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly. {ECO:0000269|PubMed:18950742, ECO:0000269|PubMed:22258522}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Liebenberg syndrome (LBNBG) [MIM:186550]: An upper limb-malformation syndrome characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation. {ECO:0000269|PubMed:23022097}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving the PITX1 locus results in LBNBG. Translocation t(5;18)(q31.1;q12.3). Additionally, two chromosome 5 deletions located 5'of PITX1 have been found in LBNBG patients. These structural variations cause altered expression of PITX1 in the forelimb via the activation of ectopic enhancers (PubMed:23022097). {ECO:0000269|PubMed:23022097}.
uniprot
proteins
function
FUNCTION: Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb. {ECO:0000250|UniProtKB:P56673}.
uniprot
proteins
mass_dalton
34128
uniprot
proteins
protein_family
Bicoid subfamily
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18950742
uniprot
proteins
pubmed
22258522
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23022097
uniprot
proteins
pubmed
26612202
uniprot
proteins
pubmed
9070926
uniprot
proteins
pubmed
9337397
uniprot
proteins
sequence_length
314
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins