KEGG   Homo sapiens (human): 5309
Entry
5309              CDS       T01001                                 
Symbol
PITX3, ASGD1, ASMD, ASOD, CTPP4, CTRCT11, PTX3
Name
(RefSeq) paired like homeodomain 3
  KO
K09357  paired-like homeodomain transcription factor 3
Organism
hsa  Homo sapiens (human)
Disease
H01159  Anterior segment dysgenesis
H01202  Cataract
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    5309 (PITX3)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain Paired-related
    5309 (PITX3)
SSDB
Motif
Pfam: Homeodomain OAR Homeobox_KN
Other DBs
NCBI-GeneID: 5309
NCBI-ProteinID: NP_005020
OMIM: 602669
HGNC: 9006
Ensembl: ENSG00000107859
Pharos: O75364(Tbio)
UniProt: O75364
Position
10:complement(102230189..102241512)
AA seq 302 aa
MEFGLLSEAEARSPALSLSDAGTPHPQLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKK
KQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKR
ERSQQAELCKGSFAAPLGGLVPPYEEVYPGYSYGNWPPKALAPPLAAKTFPFAFNSVNVG
PLASQPVFSPPSSIAASMVPSAAAAPGTVPGPGALQGLGGGPPGLAPAAVSSGAVSCPYA
SAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYPAVHGPPPAANLSPCQYAVER
PV
NT seq 909 nt   +upstreamnt  +downstreamnt
atggagttcggcctgctcagcgaggcagaggcccggagccctgccctgtcgctgtcagac
gctggcactccgcacccccagctcccagagcacggctgcaagggccaggagcacagcgac
tcagaaaaggcctcggcttcgctgcccggcggctccccagaggacggttcgctgaaaaag
aagcagcggcggcagcgcacgcacttcaccagccagcagctacaggagctagaggcgacc
ttccagaggaaccgctaccccgacatgagcacgcgcgaggagatcgccgtgtggaccaac
ctcaccgaggcccgcgtgcgggtgtggttcaagaaccggcgcgccaaatggcggaagcgc
gagcgcagccagcaggccgagctatgcaaaggcagcttcgcggcgccgctcggggggctg
gtgccgccctacgaggaggtgtaccccggctactcgtacggcaactggccgcccaaggct
cttgccccgccgctcgccgccaagacctttccattcgccttcaactcggtcaacgtgggg
cctctggcttcgcagcccgtcttctcgccacccagctccatcgccgcctccatggtgccc
tccgccgcggctgccccgggcaccgtgccagggcctggggccctgcagggcctgggcggg
ggcccccccgggctggctccggccgccgtgtcctccggggccgtgtcctgcccttatgcc
tcggccgccgccgccgccgcggctgccgcctcttccccctacgtctatcgggacccgtgt
aactcgagcctggccagcctgcggctcaaagccaaacagcacgcctccttcagctacccc
gctgtgcacgggccgcccccggcagccaaccttagtccgtgccagtacgccgtggaaagg
cccgtatga

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