KEGG   Homo sapiens (human): 5307
Entry
5307              CDS       T01001                                 

Gene name
PITX1, BFT, CCF, LBNBG, POTX, PTX1
Definition
(RefSeq) paired like homeodomain 1
  KO
K09356  paired-like homeodomain transcription factor 1
Organism
hsa  Homo sapiens (human)
Disease
H00903  Congenital clubfoot
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    5307 (PITX1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain only, not assigned
    5307 (PITX1)
SSDB
Motif
Pfam: Homeodomain OAR Homeobox_KN
Other DBs
NCBI-GeneID: 5307
NCBI-ProteinID: NP_002644
OMIM: 602149
HGNC: 9004
Ensembl: ENSG00000069011
Vega: OTTHUMG00000149983
Pharos: P78337(Tbio)
UniProt: P78337 X5D9A5
Position
5q31.1
AA seq 314 aa
MDAFKGGMSLERLPEGLRPPPPPPHDMGPAFHLARPADPREPLENSASESSDTELPEKER
GGEPKGPEDSGAGGTGCGGADDPAKKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSMRE
EIAVWTNLTEPRVRVWFKNRRAKWRKRERNQQLDLCKGGYVPQFSGLVQPYEDVYAAGYS
YNNWAAKSLAPAPLSTKSFTFFNSMSPLSSQSMFSAPSSISSMTMPSSMGPGAVPGMPNS
GLNNINNLTGSSLNSAMSPGACPYGTPASPYSVYRDTCNSSLASLRLKSKQHSSFGYGGL
QGPASGLNACQYNS
NT seq 945 nt   +upstreamnt  +downstreamnt
atggacgccttcaaggggggcatgagcctggagcggctgccggaggggctccggccgccg
ccgccgccaccccatgacatggggcccgccttccacctggcccggcccgccgacccccgc
gagccgctcgagaactccgccagcgagtcgtctgacacggagctgccagagaaggagcgc
ggcggggaacccaaggggcccgaggacagtggtgcgggaggcacgggctgcggcggcgca
gacgacccagccaagaagaagaagcagcggcggcaacgtacgcacttcacaagccagcag
ttgcaagagctagaggccacgttccagaggaaccgctaccccgacatgagcatgagggag
gagatcgccgtgtggaccaacctcaccgagccgcgcgtgcgggtctggttcaagaaccgg
cgagccaagtggcgtaagcgcgagcgtaaccagcagctggacctgtgcaagggtggctac
gtgccgcagttcagcggcctagtgcagccctacgaggacgtgtacgccgccggctactcc
tacaacaactgggccgccaagagcctggcgccagcgccgctctccaccaagagcttcacc
ttcttcaactccatgagcccgctgtcgtcgcagtccatgttctcagcacccagctccatc
tcctccatgaccatgccgtccagcatgggcccaggcgccgtgcctggcatgcccaactcg
ggcctcaacaacatcaacaacctcaccggctcctcgctcaactcggccatgtcgccgggc
gcttgcccgtacggcactcccgcctcgccctacagcgtctaccgggacacgtgcaactcg
agcctagccagcctgcggctcaagtccaaacagcactcgtcgtttggctacggcggcctg
cagggcccggcctcgggcctcaacgcgtgccagtacaacagctga

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