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P35680 (HNF1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 164. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hepatocyte nuclear factor 1-beta

Short name=HNF-1-beta
Short name=HNF-1B
Alternative name(s):
Homeoprotein LFB3
Transcription factor 2
Short name=TCF-2
Variant hepatic nuclear factor 1
Short name=vHNF1
Gene names
Name:HNF1B
Synonyms:TCF2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length557 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.

Subunit structure

Binds DNA as a dimer. Can form homodimer or heterodimer with HNF1-alpha.

Subcellular location

Nucleus.

Involvement in disease

Renal cysts and diabetes syndrome (RCAD) [MIM:137920]: An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.11 Ref.12 Ref.13 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20

Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry. Ref.14

Prostate cancer, hereditary, 11 (HPC11) [MIM:611955]: A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Sequence similarities

Belongs to the HNF1 homeobox family.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDiabetes mellitus
   DomainHomeobox
   LigandDNA-binding
   Molecular functionActivator
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanterior/posterior pattern specification

Inferred from electronic annotation. Source: Ensembl

branching morphogenesis of an epithelial tube

Inferred from electronic annotation. Source: Ensembl

embryonic digestive tract morphogenesis

Inferred from electronic annotation. Source: Ensembl

endocrine pancreas development

Inferred from mutant phenotype PubMed 16801329. Source: UniProtKB

endodermal cell fate specification

Inferred from electronic annotation. Source: Ensembl

epithelial cell proliferation

Inferred from electronic annotation. Source: Ensembl

genitalia development

Inferred from mutant phenotype PubMed 16801329. Source: UniProtKB

hepatoblast differentiation

Inferred from electronic annotation. Source: Ensembl

hindbrain development

Inferred from electronic annotation. Source: Ensembl

inner cell mass cell differentiation

Inferred from electronic annotation. Source: Ensembl

insulin secretion

Inferred from electronic annotation. Source: Ensembl

kidney development

Inferred from direct assay PubMed 21281489. Source: UniProtKB

mesonephric duct formation

Inferred from electronic annotation. Source: Ensembl

negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis

Inferred from electronic annotation. Source: Ensembl

negative regulation of mesenchymal cell apoptotic process involved in metanephros development

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription initiation from RNA polymerase II promoter

Inferred from direct assay PubMed 15355349. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 16297991PubMed 21281489PubMed 15509593. Source: UniProtKB

pronephric nephron tubule development

Inferred from genetic interaction PubMed 15355349. Source: UniProtKB

pronephros development

Inferred from mutant phenotype PubMed 15355349. Source: UniProtKB

regulation of Wnt signaling pathway

Inferred from electronic annotation. Source: Ensembl

regulation of branch elongation involved in ureteric bud branching

Inferred from electronic annotation. Source: Ensembl

regulation of endodermal cell fate specification

Inferred from electronic annotation. Source: Ensembl

regulation of pronephros size

Inferred from mutant phenotype PubMed 15355349. Source: UniProtKB

response to glucose

Inferred from electronic annotation. Source: Ensembl

ureteric bud elongation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from direct assay PubMed 15355349PubMed 15509593. Source: UniProtKB

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from direct assay Ref.1. Source: UniProtKB

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

protein binding

Inferred from physical interaction PubMed 21281489PubMed 15509593Ref.1. Source: UniProtKB

protein homodimerization activity

Inferred from physical interaction Ref.1. Source: UniProtKB

sequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from direct assay PubMed 16297991PubMed 15509593. Source: UniProtKB

transcription regulatory region DNA binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: P35680-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform B (identifier: P35680-2)

The sequence of this isoform differs from the canonical sequence as follows:
     183-208: Missing.
Isoform C (identifier: P35680-3)

The sequence of this isoform differs from the canonical sequence as follows:
     350-400: VRYSQQGNNE...PGHNLLSPDG → KQRLGLTASA...SHCQNILPWK
     401-557: Missing.
Isoform 4 (identifier: P35680-4)

The sequence of this isoform differs from the canonical sequence as follows:
     96-125: Missing.
     183-208: Missing.
     447-483: SLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQ → MSSTSLVMPTHHLLRAQQQGPCFPHHHPLGSCHGKAQ
     484-557: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 557557Hepatocyte nuclear factor 1-beta
PRO_0000049121

Regions

DNA binding231 – 31181Homeobox; HNF1-type
Region1 – 3131Dimerization By similarity

Natural variations

Alternative sequence96 – 12530Missing in isoform 4.
VSP_053327
Alternative sequence183 – 20826Missing in isoform B and isoform 4.
VSP_002254
Alternative sequence350 – 40051VRYSQ…LSPDG → KQRLGLTASATQPSWFLPRI LSGLRVFRGANAFEMILGPL SHCQNILPWK in isoform C.
VSP_002255
Alternative sequence401 – 557157Missing in isoform C.
VSP_002256
Alternative sequence447 – 48337SLNTS…HSPHQ → MSSTSLVMPTHHLLRAQQQG PCFPHHHPLGSCHGKAQ in isoform 4.
VSP_053328
Alternative sequence484 – 55774Missing in isoform 4.
VSP_053329
Natural variant361S → F in RCAD; gain-of-function mutation. Ref.12
VAR_046012
Natural variant611V → G in RCAD. Ref.20
VAR_046013
Natural variant761G → C in RCAD. Ref.19
Corresponds to variant rs144425830 [ dbSNP | Ensembl ].
VAR_046014
Natural variant1101V → G in RCAD. Ref.20
VAR_046015
Natural variant1121R → P in RCAD. Ref.16 Ref.19
VAR_046016
Natural variant1361Q → E in RCAD. Ref.16 Ref.19
VAR_046017
Natural variant1481S → L in RCAD. Ref.20
VAR_046018
Natural variant1481S → W in RCAD. Ref.18
VAR_046019
Natural variant1511S → P in RCAD. Ref.13
VAR_046020
Natural variant1531H → N in RCAD. Ref.17
VAR_046021
Natural variant1561K → E in RCAD; has diminished transcriptional activity by loss of DNA binding activity. Ref.20
VAR_046022
Natural variant1641K → Q in RCAD. Ref.16 Ref.19
VAR_046023
Natural variant1651R → H in RCAD. Ref.16 Ref.19
VAR_046024
Natural variant2351R → Q in RCAD. Ref.19
VAR_046025
Natural variant2411A → T in RCAD. Ref.11
VAR_046026
Natural variant2601E → D in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B. Ref.15
VAR_046027
Natural variant2761R → G in RCAD. Ref.19
VAR_046028
Natural variant2761R → Q in RCAD. Ref.20
VAR_046029
Natural variant2851G → D in RCAD. Ref.19
VAR_046030
Natural variant2951R → C in RCAD. Ref.19
VAR_046031
Natural variant2951R → H in RCAD. Ref.16 Ref.19
VAR_046032
Natural variant2951R → P in RCAD. Ref.20
VAR_046033
Natural variant3701G → S in RCAD. Ref.19
Corresponds to variant rs113042313 [ dbSNP | Ensembl ].
VAR_046034
Natural variant4651S → R in NIDDM; 22% reduction in activity. Ref.14
VAR_017665
Natural variant4921G → S in diabetes; early onset association; unknown pathological significance. Ref.11
Corresponds to variant rs1805035 [ dbSNP | Ensembl ].
VAR_012058

Secondary structure

........................ 557
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform A [UniParc].

Last modified June 1, 1994. Version 1.
Checksum: 9E1ECC7423B73980

FASTA55761,324
        10         20         30         40         50         60 
MVSKLTSLQQ ELLSALLSSG VTKEVLVQAL EELLPSPNFG VKLETLPLSP GSGAEPDTKP 

        70         80         90        100        110        120 
VFHTLTNGHA KGRLSGDEGS EDGDDYDTPP ILKELQALNT EEAAEQRAEV DRMLSEDPWR 

       130        140        150        160        170        180 
AAKMIKGYMQ QHNIPQREVV DVTGLNQSHL SQHLNKGTPM KTQKRAALYT WYVRKQREIL 

       190        200        210        220        230        240 
RQFNQTVQSS GNMTDKSSQD QLLFLFPEFS QQSHGPGQSD DACSEPTNKK MRRNRFKWGP 

       250        260        270        280        290        300 
ASQQILYQAY DRQKNPSKEE REALVEECNR AECLQRGVSP SKAHGLGSNL VTEVRVYNWF 

       310        320        330        340        350        360 
ANRRKEEAFR QKLAMDAYSS NQTHSLNPLL SHGSPHHQPS SSPPNKLSGV RYSQQGNNEI 

       370        380        390        400        410        420 
TSSSTISHHG NSAMVTSQSV LQQVSPASLD PGHNLLSPDG KMISVSGGGL PPVSTLTNIH 

       430        440        450        460        470        480 
SLSHHNPQQS QNLIMTPLSG VMAIAQSLNT SQAQSVPVIN SVAGSLAALQ PVQFSQQLHS 

       490        500        510        520        530        540 
PHQQPLMQQS PGSHMAQQPF MAAVTQLQNS HMYAHKQEPP QYSHTSRFPS AMVVTDTSSI 

       550 
STLTNMSSSK QCPLQAW 

« Hide

Isoform B [UniParc].

Checksum: CEC69B827DD176D3
Show »

FASTA53158,379
Isoform C [UniParc].

Checksum: CA374B25AB5A2A48
Show »

FASTA39944,764
Isoform 4 [UniParc].

Checksum: DE3646E9A2B068E7
Show »

FASTA42746,907

References

« Hide 'large scale' references
[1]"Two members of an HNF1 homeoprotein family are expressed in human liver."
Bach I., Mattei M.-G., Cereghini S., Yaniv M.
Nucleic Acids Res. 19:3553-3559(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
Tissue: Liver.
[2]"More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing."
Bach I., Yaniv M.
EMBO J. 12:4229-4242(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND C).
Tissue: Liver.
[3]"Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY."
Horikawa Y., Iwasaki N., Hara M., Furuta H., Hinokio Y., Cockburn B.N., Lindner T., Yamagata K., Ogata M., Tomonaga O., Kuroki H., Kasahara T., Iwamoto Y., Bell G.I.
Nat. Genet. 17:384-385(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"Homo sapiens HNF1 beta A mRNA splicing variant 4."
Yang C.-W., Tsai D.-Y.
Submitted (APR-2010) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
Tissue: Colon.
[6]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Liver.
[8]"A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta."
Lindner T.H., Njoelstad P.R., Horikawa Y., Bostad L., Bell G.I., Soevik O.
Hum. Mol. Genet. 8:2001-2008(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RCAD.
[9]"Solution structure of the homeobox domain of hepatocyte nuclear factor 1-beta (HNF-1beta)."
RIKEN structural genomics initiative (RSGI)
Submitted (DEC-2006) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 233-321.
[10]"Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta."
Lu P., Rha G.B., Chi Y.I.
Biochemistry 46:12071-12080(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (3.2 ANGSTROMS) OF 91-310 IN COMPLEX WITH DNA.
[11]"Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both."
Weng J.P., Lehto M., Forsblom C., Huang X., Li H., Groop L.C.
Diabetologia 43:131-132(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RCAD THR-241, VARIANT DIABETES SER-492.
[12]"Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY."
Yoshiuchi I., Yamagata K., Zhu Q., Tamada I., Takahashi Y., Onigata K., Takeda J., Miyagawa J., Matsuzawa Y.
Diabetologia 45:154-155(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RCAD PHE-36, CHARACTERIZATION OF VARIANT RCAD PHE-36.
[13]"Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations."
Bingham C., Ellard S., Cole T.R.P., Jones K.E., Allen L.I.S., Goodship J.A., Goodship T.H.J., Bakalinova-Pugh D., Russell G.I., Woolf A.S., Nicholls A.J., Hattersley A.T.
Kidney Int. 61:1243-1251(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RCAD PRO-151.
[14]"Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese."
Furuta H., Furuta M., Sanke T., Ekawa K., Hanabusa T., Nishi M., Sasaki H., Nanjo K.
J. Clin. Endocrinol. Metab. 87:3859-3863(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NIDDM ARG-465.
[15]"Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy."
So W.Y., Ng M.C.Y., Horikawa Y., Njoelstad P.R., Li J.K.Y., Ma R.C.W., Bell G.I., Chan J.C.N.
J. Diabetes Complications 17:369-373(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RCAD ASP-260, CHARACTERIZATION OF VARIANT RCAD ASP-260.
[16]"Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations."
Bellanne-Chantelot C., Chauveau D., Gautier J.-F., Dubois-Laforgue D., Clauin S., Beaufils S., Wilhelm J.-M., Boitard C., Noeel L.-H., Velho G., Timsit J.
Ann. Intern. Med. 140:510-517(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS RCAD PRO-112; GLU-136; GLN-164; HIS-165 AND HIS-295.
[17]"Promoter-specific repression of hepatocyte nuclear factor (HNF)-1beta and HNF-1alpha transcriptional activity by an HNF-1beta missense mutant associated with type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations."
Kitanaka S., Miki Y., Hayashi Y., Igarashi T.
J. Clin. Endocrinol. Metab. 89:1369-1378(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RCAD ASN-153, CHARACTERIZATION OF VARIANT RCAD ASN-153.
[18]"Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism."
Yorifuji T., Kurokawa K., Mamada M., Imai T., Kawai M., Nishi Y., Shishido S., Hasegawa Y., Nakahata T.
J. Clin. Endocrinol. Metab. 89:2905-2908(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RCAD TRP-148.
[19]"Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5."
Bellanne-Chantelot C., Clauin S., Chauveau D., Collin P., Daumont M., Douillard C., Dubois-Laforgue D., Dusselier L., Gautier J.-F., Jadoul M., Laloi-Michelin M., Jacquesson L., Larger E., Louis J., Nicolino M., Subra J.-F., Wilhem J.-M., Young J., Velho G., Timsit J.
Diabetes 54:3126-3132(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS RCAD CYS-76; PRO-112; GLU-136; GLN-164; HIS-165; GLN-235; GLY-276; ASP-285; CYS-295; HIS-295 AND SER-370.
[20]"Mutations in hepatocyte nuclear factor-1beta and their related phenotypes."
Edghill E.L., Bingham C., Ellard S., Hattersley A.T.
J. Med. Genet. 43:84-90(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS RCAD GLY-61; GLY-110; LEU-148; GLU-156; GLN-276 AND PRO-295.
[21]"Multiple newly identified loci associated with prostate cancer susceptibility."
The UK genetic prostate cancer study collaborators, British association of urological surgeons section of oncology, The UK protecT study collaborators
Eeles R.A., Kote-Jarai Z., Giles G.G., Al Olama A.A., Guy M., Jugurnauth S.K., Mulholland S., Leongamornlert D.A., Edwards S.M., Morrison J., Field H.I., Southey M.C., Severi G., Donovan J.L., Hamdy F.C., Dearnaley D.P., Muir K.R., Smith C. expand/collapse author list , Bagnato M., Ardern-Jones A.T., Hall A.L., O'Brien L.T., Gehr-Swain B.N., Wilkinson R.A., Cox A., Lewis S., Brown P.M., Jhavar S.G., Tymrakiewicz M., Lophatananon A., Bryant S.L., Horwich A., Huddart R.A., Khoo V.S., Parker C.C., Woodhouse C.J., Thompson A., Christmas T., Ogden C., Fisher C., Jamieson C., Cooper C.S., English D.R., Hopper J.L., Neal D.E., Easton D.F.
Nat. Genet. 40:316-321(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO HEREDITARY PROSTATE CANCER.
+Additional computationally mapped references.

Web resources

Wikipedia

Hepatocyte nuclear factors entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X58840 mRNA. Translation: CAA41652.1.
X71348 mRNA. Translation: CAB59223.1.
U90287 expand/collapse EMBL AC list , U90279, U90280, U90281, U90282, U90283, U90284, U90285, U90286 Genomic DNA. Translation: AAC63388.1.
HM116556 mRNA. Translation: ADM43493.1.
AK296633 mRNA. Translation: BAG59235.1.
AC091199 Genomic DNA. No translation available.
AC113211 Genomic DNA. No translation available.
BC017714 mRNA. Translation: AAH17714.1.
CCDSCCDS11324.1. [P35680-1]
CCDS58538.1. [P35680-2]
PIRS34412.
RefSeqNP_000449.1. NM_000458.2. [P35680-1]
NP_001159395.1. NM_001165923.2. [P35680-2]
UniGeneHs.191144.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2DA6NMR-A233-321[»]
2H8RX-ray3.20A/B91-310[»]
ProteinModelPortalP35680.
SMRP35680. Positions 91-325.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112790. 5 interactions.
IntActP35680. 1 interaction.
STRING9606.ENSP00000225893.

PTM databases

PhosphoSiteP35680.

Polymorphism databases

DMDM547664.

Proteomic databases

MaxQBP35680.
PaxDbP35680.
PRIDEP35680.

Protocols and materials databases

DNASU6928.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000225893; ENSP00000225893; ENSG00000108753. [P35680-1]
ENST00000427275; ENSP00000412212; ENSG00000108753.
ENST00000561193; ENSP00000452674; ENSG00000108753. [P35680-2]
GeneID6928.
KEGGhsa:6928.
UCSCuc002hok.4. human. [P35680-1]
uc010cve.1. human. [P35680-3]

Organism-specific databases

CTD6928.
GeneCardsGC17M036046.
HGNCHGNC:11630. HNF1B.
HPAHPA002083.
MIM125853. phenotype.
137920. phenotype.
189907. gene.
611955. phenotype.
neXtProtNX_P35680.
Orphanet261265. 17q12 microdeletion syndrome.
34528. Autosomal dominant primary hypomagnesemia with hypocalciuria.
247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
1331. Familial prostate cancer.
2578. MURCS association.
93111. Renal cysts and diabetes syndrome.
PharmGKBPA162391083.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG79356.
HOGENOMHOG000015305.
HOVERGENHBG005980.
InParanoidP35680.
KOK08034.
OMAMYTHKQE.
OrthoDBEOG769ZJ9.
PhylomeDBP35680.
TreeFamTF320327.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressP35680.
BgeeP35680.
CleanExHS_HNF1B.
GenevestigatorP35680.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProIPR006899. HNF-1_N.
IPR023219. HNF1_dimer_dom.
IPR006897. HNF1b_C.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
[Graphical view]
PfamPF04814. HNF-1_N. 1 hit.
PF04812. HNF-1B_C. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF100957. SSF100957. 1 hit.
SSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP35680.
GeneWikiHNF1B.
GenomeRNAi6928.
NextBio27109.
PROP35680.
SOURCESearch...

Entry information

Entry nameHNF1B_HUMAN
AccessionPrimary (citable) accession number: P35680
Secondary accession number(s): B4DKM3, E0YMJ9
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: July 9, 2014
This is version 164 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM