P35680 (HNF1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	557 AA.
Sequence status	Complete.
Protein existence	Evidence 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.6 Ref.8 Ref.9 Ref.10 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 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.11 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Diabetes mellitus
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Activator
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterior/posterior pattern specification Inferred from electronic annotation. Source: Compara branching morphogenesis of an epithelial tube Inferred from electronic annotation. Source: Compara embryonic digestive tract morphogenesis Inferred from electronic annotation. Source: Compara endocrine pancreas development Inferred from mutant phenotype PubMed 16801329. Source: UniProtKB endodermal cell fate specification Inferred from electronic annotation. Source: Compara epithelial cell proliferation Inferred from electronic annotation. Source: Compara genitalia development Inferred from mutant phenotype PubMed 16801329. Source: UniProtKB hepatoblast differentiation Inferred from electronic annotation. Source: Compara hindbrain development Inferred from electronic annotation. Source: Compara inner cell mass cell differentiation Inferred from electronic annotation. Source: Compara insulin secretion Inferred from electronic annotation. Source: Compara kidney development Inferred from mutant phenotype PubMed 16801329. Source: UniProtKB mesonephric duct formation Inferred from electronic annotation. Source: Compara negative regulation of apoptotic process Inferred from electronic annotation. Source: Compara negative regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara positive regulation of transcription initiation from RNA polymerase II promoter Inferred from direct assay PubMed 15355349. Source: UniProtKB positive regulation of transcription, DNA-dependent Inferred from direct assay PubMed 15509593. Source: UniProtKB pronephric nephron tubule development Inferred from genetic interaction PubMed 15355349. Source: UniProtKB regulation of Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara regulation of branch elongation involved in ureteric bud branching Inferred from electronic annotation. Source: Compara regulation of endodermal cell fate specification Inferred from electronic annotation. Source: Compara regulation of pronephros size Inferred from mutant phenotype PubMed 15355349. Source: UniProtKB response to glucose stimulus Inferred from electronic annotation. Source: Compara ureteric bud elongation Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Inferred from direct assay PubMed 15355349PubMed 15509593. Source: UniProtKB transcription factor complex Inferred from electronic annotation. Source: Compara
Molecular_function	DNA 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: Compara 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: Compara
Complete GO annotation...

Alternative products

This entry describes 3 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.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 557

557

Hepatocyte nuclear factor 1-beta

PRO_0000049121

Regions

DNA binding

231 – 311

81

Homeobox; HNF1-type

Region

1 – 31

31

Dimerization By similarity

Amino acid modifications

Modified residue

75

1

Phosphoserine By similarity

Modified residue

80

1

Phosphoserine By similarity

Natural variations

Alternative sequence

183 – 208

26

Missing in isoform B.

VSP_002254

Alternative sequence

350 – 400

51

VRYSQ…LSPDG → KQRLGLTASATQPSWFLPRI LSGLRVFRGANAFEMILGPL SHCQNILPWK in isoform C.

VSP_002255

Alternative sequence

401 – 557

157

Missing in isoform C.

VSP_002256

Natural variant

36

1

S → F in RCAD; gain-of-function mutation. Ref.9

VAR_046012

Natural variant

61

1

V → G in RCAD. Ref.17

VAR_046013

Natural variant

76

1

G → C in RCAD. Ref.16

VAR_046014

Natural variant

110

1

V → G in RCAD. Ref.17

VAR_046015

Natural variant

112

1

R → P in RCAD. Ref.13 Ref.16

VAR_046016

Natural variant

136

1

Q → E in RCAD. Ref.13 Ref.16

VAR_046017

Natural variant

148

1

S → L in RCAD. Ref.17

VAR_046018

Natural variant

148

1

S → W in RCAD. Ref.15

VAR_046019

Natural variant

151

1

S → P in RCAD. Ref.10

VAR_046020

Natural variant

153

1

H → N in RCAD. Ref.14

VAR_046021

Natural variant

156

1

K → E in RCAD; has diminished transcriptional activity by loss of DNA binding activity. Ref.17

VAR_046022

Natural variant

164

1

K → Q in RCAD. Ref.13 Ref.16

VAR_046023

Natural variant

165

1

R → H in RCAD. Ref.13 Ref.16

VAR_046024

Natural variant

235

1

R → Q in RCAD. Ref.16

VAR_046025

Natural variant

241

1

A → T in RCAD. Ref.8

VAR_046026

Natural variant

260

1

E → D in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B. Ref.12

VAR_046027

Natural variant

276

1

R → G in RCAD. Ref.16

VAR_046028

Natural variant

276

1

R → Q in RCAD. Ref.17

VAR_046029

Natural variant

285

1

G → D in RCAD. Ref.16

VAR_046030

Natural variant

295

1

R → C in RCAD. Ref.16

VAR_046031

Natural variant

295

1

R → H in RCAD. Ref.13 Ref.16

VAR_046032

Natural variant

295

1

R → P in RCAD. Ref.17

VAR_046033

Natural variant

370

1

G → S in RCAD. Ref.16

VAR_046034

Natural variant

465

1

S → R in NIDDM; 22% reduction in activity. Ref.11

VAR_017665

Natural variant

492

1

G → S in diabetes; early onset association; uncertain pathogenicity. Ref.8
Corresponds to variant rs1805035 [ dbSNP | Ensembl ].

VAR_012058

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

557

Helix Strand Turn

Details...

Helix

91 – 98

8

Helix

101 – 113

13

Helix

118 – 132

15

Helix

136 – 143

8

Helix

147 – 154

8

Helix

162 – 181

20

Turn

182 – 185

4

Helix

240 – 252

13

Helix

258 – 275

18

Helix

283 – 286

4

Helix

293 – 304

12

Beta strand

316 – 321

6

Sequences

	Sequence		Length	Mass (Da)
	Isoform A [UniParc]. Last modified June 1, 1994. Version 1. Checksum: 9E1ECC7423B73980	FASTA	557	61,324
	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
	Isoform B [UniParc]. Checksum: CEC69B827DD176D3	FASTA	531	58,379
	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 RQFSQQSHGP GQSDDACSEP TNKKMRRNRF KWGPASQQIL YQAYDRQKNP SKEEREALVE 250 260 270 280 290 300 ECNRAECLQR GVSPSKAHGL GSNLVTEVRV YNWFANRRKE EAFRQKLAMD AYSSNQTHSL 310 320 330 340 350 360 NPLLSHGSPH HQPSSSPPNK LSGVRYSQQG NNEITSSSTI SHHGNSAMVT SQSVLQQVSP 370 380 390 400 410 420 ASLDPGHNLL SPDGKMISVS GGGLPPVSTL TNIHSLSHHN PQQSQNLIMT PLSGVMAIAQ 430 440 450 460 470 480 SLNTSQAQSV PVINSVAGSL AALQPVQFSQ QLHSPHQQPL MQQSPGSHMA QQPFMAAVTQ 490 500 510 520 530 LQNSHMYAHK QEPPQYSHTS RFPSAMVVTD TSSISTLTNM SSSKQCPLQA W
	Isoform C [UniParc]. Checksum: CA374B25AB5A2A48	FASTA	399	44,764
	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 SSPPNKLSGK QRLGLTASAT 370 380 390 QPSWFLPRIL SGLRVFRGAN AFEMILGPLS HCQNILPWK

References

	« Hide 'large scale' referencesShow '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]	"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. , 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.
[5]	"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.
[6]	"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.
[7]	"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.
[8]	"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.
[9]	"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.
[10]	"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.
[11]	"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.
[12]	"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.
[13]	"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.
[14]	"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.
[15]	"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.
[16]	"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.
[17]	"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.
[18]	"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. , 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

GeneReviews

Wikipedia

Hepatocyte nuclear factors entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

X58840 mRNA. Translation: CAA41652.1.
X71348 mRNA. Translation: CAB59223.1.
U90287 , U90279, U90280, U90281, U90282, U90283, U90284, U90285, U90286 Genomic DNA. Translation: AAC63388.1.
AK296633 mRNA. Translation: BAG59235.1.
BC017714 mRNA. Translation: AAH17714.1.

IPI

IPI00020078.
IPI00219911.
IPI00219912.

PIR

S34412.

RefSeq

NP_000449.1. NM_000458.2.
NP_001159395.1. NM_001165923.1.

UniGene

Hs.191144.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DA6	NMR	-	A	233-321	[»]
2H8R	X-ray	3.20	A/B	91-310	[»]

ProteinModelPortal

P35680.

SMR

P35680. Positions 1-29, 91-325.

ModBase

Search...

Protein-protein interaction databases

IntAct

P35680. 1 interaction.

STRING

9606.ENSP00000225893.

PTM databases

PhosphoSite

P35680.

Polymorphism databases

DMDM

547664.

Proteomic databases

PaxDb

P35680.

PRIDE

P35680.

Protocols and materials databases

DNASU

6928.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000225893; ENSP00000225893; ENSG00000108753.
ENST00000561193; ENSP00000452674; ENSG00000108753.

GeneID

6928.

KEGG

hsa:6928.

UCSC

uc002hok.4. human.
uc010cve.1. human.

Organism-specific databases

CTD

6928.

GeneCards

GC17M036046.

HGNC

HGNC:11630. HNF1B.

HPA

HPA002083.

MIM

125853. phenotype.
137920. phenotype.
189907. gene.
611955. phenotype.

neXtProt

NX_P35680.

Orphanet

261265. 17q12 microdeletion syndrome.
1331. Familial prostate cancer.
73217. Mullerian aplasia.
93111. Renal cysts and diabetes syndrome.

PharmGKB

PA162391083.

GenAtlas

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Phylogenomic databases

eggNOG

NOG79356.

HOGENOM

HOG000015305.

HOVERGEN

HBG005980.

InParanoid

P35680.

KO

K08034.

OMA

MYTHKQE.

OrthoDB

EOG43BMNN.

PhylomeDB

P35680.

Enzyme and pathway databases

Pathway_Interaction_DB

hnf3bpathway. FOXA2 and FOXA3 transcription factor networks.

Reactome

REACT_111045. Developmental Biology.

Gene expression databases

ArrayExpress

P35680.

Bgee

P35680.

CleanEx

HS_HNF1B.

Genevestigator

P35680.

GermOnline

ENSG00000108753. Homo sapiens.

Family and domain databases

Gene3D

1.10.10.60. 1 hit.
1.10.260.40. 1 hit.

InterPro

IPR006899. HNF-1_N.
IPR023219. HNF1_dimer_dom.
IPR006897. HNF1b_C.
IPR001356. Homeodomain.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
[Graphical view]

Pfam

PF04814. HNF-1_N. 1 hit.
PF04812. HNF-1B_C. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]

SMART

SM00389. HOX. 1 hit.
[Graphical view]

SUPFAM

SSF100957. HNF1_dimer_dom. 1 hit.
SSF46689. Homeodomain_like. 1 hit.
SSF47413. Lambda_like_DNA. 1 hit.

PROSITE

PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

P35680.

GenomeRNAi

6928.

NextBio

27109.

SOURCE

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Entry information

Entry name

HNF1B_HUMAN

Accession

Primary (citable) accession number: P35680
Secondary accession number(s): B4DKM3

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	June 1, 1994
Last modified:	May 1, 2013
This is version 150 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.