KEGG   Homo sapiens (human): 6928Help
Entry
6928              CDS       T01001                                 

Gene name
HNF1B, FJHN, HNF-1-beta, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, TCF-2, TCF2, VHNF1
Definition
(RefSeq) HNF1 homeobox B
  KO
K08034  transcription factor 2, hepatocyte nuclear factor 1-beta
Organism
hsa  Homo sapiens (human)
Pathway
hsa04950  Maturity onset diabetes of the young
Disease
H00409  Type 2 diabetes mellitus
H00410  Maturity onset diabetes of the young (MODY)
H00541  Autosomal dominant tubulointerstitial kidney disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09167 Endocrine and metabolic diseases
   04950 Maturity onset diabetes of the young
    6928 (HNF1B)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6928 (HNF1B)
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Helix-turn-helix
   Homeo domain only, HNF1
    6928 (HNF1B)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: HNF-1B_C HNF-1_N Homeodomain Homeobox_KN
Motif
Other DBs
NCBI-GeneID: 6928
NCBI-ProteinID: NP_000449
OMIM: 189907
HGNC: 11630
Ensembl: ENSG00000275410
Vega: OTTHUMG00000188478
Pharos: P35680(Tbio)
UniProt: P35680 Q6FHW6
Structure
PDB: 

Position
17q12
AA seq 557 aa AA seqDB search
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKP
VFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWR
AAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREIL
RQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP
ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWF
ANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEI
TSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIH
SLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHS
PHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQEPPQYSHTSRFPSAMVVTDTSSI
STLTNMSSSKQCPLQAW
NT seq 1674 nt NT seq  +upstreamnt  +downstreamnt
atggtgtccaagctcacgtcgctccagcaagaactcctgagcgccctgctgagctccggg
gtcaccaaggaggtgctggttcaggccttggaggagttgctgccatccccgaacttcggg
gtgaagctggagacgctgcccctgtcccctggcagcggggccgagcccgacaccaagccg
gtcttccatactctcaccaacggccacgccaagggccgcttgtccggcgacgagggctcc
gaggacggcgacgactatgacacacctcccatcctcaaggagctgcaggcgctcaacacc
gaggaggcggcggagcagcgggcggaggtggaccggatgctcagtgaggacccttggagg
gctgctaaaatgatcaagggttacatgcagcaacacaacatcccccagagggaggtggtc
gatgtcaccggcctgaaccagtcgcacctctcccagcatctcaacaagggcacccctatg
aagacccagaagcgtgccgctctgtacacctggtacgtcagaaagcaacgagagatcctc
cgacaattcaaccagacagtccagagttctggaaatatgacagacaaaagcagtcaggat
cagctgctgtttctctttccagagttcagtcaacagagccatgggcctgggcagtccgat
gatgcctgctctgagcccaccaacaagaagatgcgccgcaaccggttcaaatgggggccc
gcgtcccagcaaatcttgtaccaggcctacgatcggcaaaagaaccccagcaaggaagag
agagaggccttagtggaggaatgcaacagggcagaatgtttgcagcgaggggtgtccccc
tccaaagcccacggcctgggctccaacttggtcactgaggtccgtgtctacaactggttt
gcaaaccgcaggaaggaggaggcattccggcaaaagctggccatggacgcctatagctcc
aaccagactcacagcctgaaccctctgctctcccacggctccccccaccaccagcccagc
tcctctcctccaaacaagctgtcaggagtgcgctacagccagcagggaaacaatgagatc
acttcctcctcaacaatcagtcaccatggcaacagcgccatggtgaccagccagtcggtt
ttacagcaagtctccccagccagcctggacccaggccacaatctcctctcacctgatggt
aaaatgatctcagtctcaggaggaggtttgcccccagtcagcaccttgacgaatatccac
agcctctcccaccataatccccagcaatctcaaaacctcatcatgacacccctctctgga
gtcatggcaattgcacaaagcctcaacacctcccaagcacagagtgtccctgtcatcaac
agtgtggccggcagcctggcagccctgcagcccgtccagttctcccagcagctgcacagc
cctcaccagcagcccctcatgcagcagagcccaggcagccacatggcccagcagcccttc
atggcagctgtgactcagctgcagaactcacacatgtacgcacacaagcaggaacccccc
cagtattcccacacctcccggtttccatctgcaatggtggtcacagataccagcagcatc
agtacactcaccaacatgtcttcaagtaaacagtgtcctctacaagcctggtga

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