KEGG   Homo sapiens (human): 6927
Entry
6927              CDS       T01001                                 
Symbol
HNF1A, HNF-1-alpha, HNF-1A, HNF1, HNF1alpha, HNF4A, IDDM20, LFB1, MODY3, TCF-1, TCF1
Name
(RefSeq) HNF1 homeobox A
  KO
K08036  transcription factor 1, hepatocyte nuclear factor 1-alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04950  Maturity onset diabetes of the young
Disease
H00021  Renal cell carcinoma
H00408  Type 1 diabetes mellitus
H00410  Maturity onset diabetes of the young (MODY)
H02869  Familial hepatic adenomas
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04950 Maturity onset diabetes of the young
    6927 (HNF1A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6927 (HNF1A)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain POU
    6927 (HNF1A)
SSDB
Motif
Pfam: HNF-1B_C HNF-1_N HNF-1A_C Homeodomain Telethonin Homeobox_KN KPBB_C
Other DBs
NCBI-GeneID: 6927
NCBI-ProteinID: NP_000536
OMIM: 142410
HGNC: 11621
Ensembl: ENSG00000135100
UniProt: P20823 E0YMI7
Structure
LinkDB
Position
12:120978543..121002512
AA seq 631 aa
MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL
PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK
SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA
GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP
AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH
SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA
SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV
QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK
QVFTSDTEASSESGLHTPASQATTLHVPSQDPASIQHLQPAHRLSASPTVSSSSLVLYQS
SDSSNGQSHLLPSNHSVIETFISTQMASSSQ
NT seq 1896 nt   +upstreamnt  +downstreamnt
atggtttctaaactgagccagctgcagacggagctcctggcggccctgctcgagtcaggg
ctgagcaaagaggcactgatccaggcactgggtgagccggggccctacctcctggctgga
gaaggccccctggacaagggggagtcctgcggcggcggtcgaggggagctggctgagctg
cccaatgggctgggggagactcggggctccgaggacgagacggacgacgatggggaagac
ttcacgccacccatcctcaaagagctggagaacctcagccctgaggaggcggcccaccag
aaagccgtggtggagacccttctgcaggaggacccgtggcgtgtggcgaagatggtcaag
tcctacctgcagcagcacaacatcccacagcgggaggtggtcgataccactggcctcaac
cagtcccacctgtcccaacacctcaacaagggcactcccatgaagacgcagaagcgggcc
gccctgtacacctggtacgtccgcaagcagcgagaggtggcgcagcagttcacccatgca
gggcagggagggctgattgaagagcccacaggtgatgagctaccaaccaagaaggggcgg
aggaaccgtttcaagtggggcccagcatcccagcagatcctgttccaggcctatgagagg
cagaagaaccctagcaaggaggagcgagagacgctagtggaggagtgcaatagggcggaa
tgcatccagagaggggtgtccccatcacaggcacaggggctgggctccaacctcgtcacg
gaggtgcgtgtctacaactggtttgccaaccggcgcaaagaagaagccttccggcacaag
ctggccatggacacgtacagcgggccccccccagggccaggcccgggacctgcgctgccc
gctcacagctcccctggcctgcctccacctgccctctcccccagtaaggtccacggtgtg
cgctatggacagcctgcgaccagtgagactgcagaagtaccctcaagcagcggcggtccc
ttagtgacagtgtctacacccctccaccaagtgtcccccacgggcctggagcccagccac
agcctgctgagtacagaagccaagctggtctcagcagctgggggccccctcccccctgtc
agcaccctgacagcactgcacagcttggagcagacatccccaggcctcaaccagcagccc
cagaacctcatcatggcctcacttcctggggtcatgaccatcgggcctggtgagcctgcc
tccctgggtcctacgttcaccaacacaggtgcctccaccctggtcatcggcctggcctcc
acgcaggcacagagtgtgccggtcatcaacagcatgggcagcagcctgaccaccctgcag
cccgtccagttctcccagccgctgcacccctcctaccagcagccgctcatgccacctgtg
cagagccatgtgacccagagccccttcatggccaccatggctcagctgcagagcccccac
gccctctacagccacaagcccgaggtggcccagtacacccacacgggcctgctcccgcag
actatgctcatcaccgacaccaccaacctgagcgccctggccagcctcacgcccaccaag
caggtcttcacctcagacactgaggcctccagtgagtccgggcttcacacgccggcatct
caggccaccaccctccacgtccccagccaggaccctgccagcatccagcacctgcagccg
gcccaccggctcagcgccagccccacagtgtcctccagcagcctggtgctgtaccagagc
tcagactccagcaatggccagagccacctgctgccatccaaccacagcgtcatcgagacc
ttcatctccacccagatggcctcttcctcccagtaa

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