KEGG   Homo sapiens (human): 5078
Entry
5078              CDS       T01001                                 

Gene name
PAX4, KPD, MODY9
Definition
(RefSeq) paired box 4
  KO
K08032  paired box protein 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04950  Maturity onset diabetes of the young
Disease
H00410  Maturity onset diabetes of the young (MODY)
H01224  Ketosis-prone diabetes mellitus
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04950 Maturity onset diabetes of the young
    5078 (PAX4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    5078 (PAX4)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain Paired-related
    5078 (PAX4)
SSDB
Motif
Pfam: PAX Homeodomain HTH_23 HTH_32 HTH_28 HTH_38 HTH_Tnp_IS1
Other DBs
NCBI-GeneID: 5078
NCBI-ProteinID: NP_001353039
OMIM: 167413
HGNC: 8618
Ensembl: ENSG00000106331
Vega: OTTHUMG00000157562
Pharos: O43316(Tbio)
LinkDB
Position
7q32.1
AA seq 351 aa
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGR
YYRTGVLEPKGIGGSKPRLATPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPS
VSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSETPRGTHPGTGHRNRTIFSPS
QAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACL
KPCWGHLPPQPNSLDSGLLCLPCPSSHCHLASLSGSQALLWPGCPLLYGLE
NT seq 1056 nt   +upstreamnt  +downstreamnt
atgcatcaggacgggatcagcagcatgaaccagcttggggggctctttgtgaatggccgg
cccctgcctctggatacccggcagcagattgtgcggctagcagtcagtggaatgcggccc
tgtgacatctcacggatccttaaggtatctaatggctgtgtgagcaagatcctagggcgt
tactaccgcacaggtgtcttggagccaaagggcattgggggaagcaagccacggctggct
acaccccctgtggtggctcgaattgcccagctgaagggtgagtgtccagccctctttgcc
tgggaaatccaacgccagctttgtgctgaagggctttgcacccaggacaagactcccagt
gtctcctccatcaaccgagtcctgcgggcattacaggaggaccagggactaccgtgcaca
cggctcaggtcaccagctgttttggctccagctgtcctcactccccatagtggctctgag
actccccggggtacccacccagggaccggccaccggaatcggactatcttctccccaagc
caagcagaggcactggagaaagagttccagcgtgggcagtatcctgattcagtggcccgt
ggaaagctggctactgccacctctctgcctgaggacacggtgagggtctggttttccaac
agaagagccaaatggcgtcggcaagagaagctcaagtgggaaatgcagctgccaggtgct
tcccaggggctgactgtaccaagggttgccccaggaatcatctctgcacagcagtcccct
ggcagtgtgcccacagcagccctgcctgccctggaaccactgggtccctcctgctatcag
ctgtgctgggcaacagcaccagaaaggtgtctgagtgacaccccacctaaagcctgtctc
aagccctgctggggccacttgcccccacagccgaattccctggactcaggactgctttgc
cttccttgcccttcctcccactgtcacctggccagtcttagtggctctcaggccctgctc
tggcctggctgcccactactgtatggcttggaatga

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