KEGG   Homo sapiens (human): 6928
Entry
6928              CDS       T01001                                 
Symbol
HNF1B, ADTKD3, FJHN, HNF-1-beta, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, RCAD, T2D, TCF-2, TCF2, VHNF1
Name
(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 disease
   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 POU
    6928 (HNF1B)
SSDB
Motif
Pfam: HNF-1B_C HNF-1_N Homeodomain Homeobox_KN APP1_cat
Other DBs
NCBI-GeneID: 6928
NCBI-ProteinID: NP_000449
OMIM: 189907
HGNC: 11630
Ensembl: ENSG00000275410
UniProt: P35680 Q6FHW6
Structure
Position
17:complement(37686431..37745059)
AA seq 557 aa
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKP
VFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWR
AAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREIL
RQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP
ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWF
ANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEI
TSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIH
SLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHS
PHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQEPPQYSHTSRFPSAMVVTDTSSI
STLTNMSSSKQCPLQAW
NT seq 1674 nt   +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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (26)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (23)   
DNA sequence (52)   
   RefSeq(nuc) (24)   
   GenBank (14)   
   EMBL (14)   
3D Structure (3)   
   PDB (3)   
Protein domain (5)   
   Pfam (5)   
All databases (108)   

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