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P35680

- HNF1B_HUMAN

UniProt

P35680 - HNF1B_HUMAN

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Protein

Hepatocyte nuclear factor 1-beta

Gene

HNF1B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi231 – 31181Homeobox; HNF1-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. protein homodimerization activity Source: UniProtKB
  3. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
  4. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  5. transcription regulatory region DNA binding Source: Ensembl

GO - Biological processi

  1. anterior/posterior pattern specification Source: Ensembl
  2. branching morphogenesis of an epithelial tube Source: Ensembl
  3. embryonic digestive tract morphogenesis Source: Ensembl
  4. endocrine pancreas development Source: UniProtKB
  5. endodermal cell fate specification Source: Ensembl
  6. epithelial cell proliferation Source: Ensembl
  7. genitalia development Source: UniProtKB
  8. hepatoblast differentiation Source: Ensembl
  9. hindbrain development Source: Ensembl
  10. inner cell mass cell differentiation Source: Ensembl
  11. insulin secretion Source: Ensembl
  12. kidney development Source: UniProtKB
  13. mesonephric duct formation Source: Ensembl
  14. negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis Source: Ensembl
  15. negative regulation of mesenchymal cell apoptotic process involved in metanephros development Source: Ensembl
  16. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  17. positive regulation of transcription, DNA-templated Source: UniProtKB
  18. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  19. positive regulation of transcription initiation from RNA polymerase II promoter Source: UniProtKB
  20. pronephric nephron tubule development Source: UniProtKB
  21. pronephros development Source: UniProtKB
  22. regulation of branch elongation involved in ureteric bud branching Source: Ensembl
  23. regulation of endodermal cell fate specification Source: Ensembl
  24. regulation of pronephros size Source: UniProtKB
  25. regulation of Wnt signaling pathway Source: Ensembl
  26. response to glucose Source: Ensembl
  27. ureteric bud elongation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_13673. Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.
REACT_13778. Regulation of gene expression in early pancreatic precursor cells.

Names & Taxonomyi

Protein namesi
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 namesi
Name:HNF1B
Synonyms:TCF2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:11630. HNF1B.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB
  2. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.10 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 361S → F in RCAD; gain-of-function mutation. 1 Publication
VAR_046012
Natural varianti61 – 611V → G in RCAD. 1 Publication
VAR_046013
Natural varianti76 – 761G → C in RCAD. 1 Publication
Corresponds to variant rs144425830 [ dbSNP | Ensembl ].
VAR_046014
Natural varianti110 – 1101V → G in RCAD. 1 Publication
VAR_046015
Natural varianti112 – 1121R → P in RCAD. 2 Publications
VAR_046016
Natural varianti136 – 1361Q → E in RCAD. 2 Publications
VAR_046017
Natural varianti148 – 1481S → L in RCAD. 1 Publication
VAR_046018
Natural varianti148 – 1481S → W in RCAD. 1 Publication
VAR_046019
Natural varianti151 – 1511S → P in RCAD. 1 Publication
VAR_046020
Natural varianti153 – 1531H → N in RCAD. 1 Publication
VAR_046021
Natural varianti156 – 1561K → E in RCAD; has diminished transcriptional activity by loss of DNA binding activity. 1 Publication
VAR_046022
Natural varianti164 – 1641K → Q in RCAD. 2 Publications
VAR_046023
Natural varianti165 – 1651R → H in RCAD. 2 Publications
VAR_046024
Natural varianti235 – 2351R → Q in RCAD. 1 Publication
VAR_046025
Natural varianti241 – 2411A → T in RCAD. 1 Publication
VAR_046026
Natural varianti260 – 2601E → D in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B. 1 Publication
VAR_046027
Natural varianti276 – 2761R → G in RCAD. 1 Publication
VAR_046028
Natural varianti276 – 2761R → Q in RCAD. 1 Publication
VAR_046029
Natural varianti285 – 2851G → D in RCAD. 1 Publication
VAR_046030
Natural varianti295 – 2951R → C in RCAD. 1 Publication
VAR_046031
Natural varianti295 – 2951R → H in RCAD. 2 Publications
VAR_046032
Natural varianti295 – 2951R → P in RCAD. 1 Publication
VAR_046033
Natural varianti370 – 3701G → S in RCAD. 1 Publication
Corresponds to variant rs113042313 [ dbSNP | Ensembl ].
VAR_046034
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.1 Publication
Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti465 – 4651S → R in NIDDM; 22% reduction in activity. 1 Publication
VAR_017665
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.

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

MIMi125853. phenotype.
137920. phenotype.
611955. phenotype.
Orphaneti261265. 17q12 microdeletion syndrome.
34528. Autosomal dominant primary hypomagnesemia with hypocalciuria.
97364. Bilateral multicystic dysplastic kidney.
247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
1331. Familial prostate cancer.
2578. MURCS association.
93111. Renal cysts and diabetes syndrome.
97363. Unilateral multicystic dysplastic kidney.
PharmGKBiPA162391083.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 557557Hepatocyte nuclear factor 1-betaPRO_0000049121Add
BLAST

Proteomic databases

PaxDbiP35680.
PRIDEiP35680.

PTM databases

PhosphoSiteiP35680.

Expressioni

Gene expression databases

BgeeiP35680.
CleanExiHS_HNF1B.
ExpressionAtlasiP35680. differential.
GenevestigatoriP35680.

Organism-specific databases

HPAiHPA002083.

Interactioni

Subunit structurei

Binds DNA as a dimer. Can form homodimer or heterodimer with HNF1-alpha.1 Publication

Protein-protein interaction databases

BioGridi112790. 5 interactions.
IntActiP35680. 1 interaction.
STRINGi9606.ENSP00000225893.

Structurei

Secondary structure

1
557
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi91 – 988Combined sources
Helixi101 – 11313Combined sources
Helixi118 – 13215Combined sources
Helixi136 – 1438Combined sources
Helixi147 – 1548Combined sources
Helixi162 – 18120Combined sources
Turni182 – 1854Combined sources
Helixi240 – 25213Combined sources
Helixi258 – 27518Combined sources
Helixi283 – 2864Combined sources
Helixi293 – 30412Combined sources
Beta strandi316 – 3216Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DA6NMR-A233-321[»]
2H8RX-ray3.20A/B91-310[»]
ProteinModelPortaliP35680.
SMRiP35680. Positions 91-325.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP35680.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 3131DimerizationBy similarityAdd
BLAST

Sequence similaritiesi

Belongs to the HNF1 homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG79356.
GeneTreeiENSGT00730000110937.
HOGENOMiHOG000015305.
HOVERGENiHBG005980.
InParanoidiP35680.
KOiK08034.
OMAiMYTHKQE.
OrthoDBiEOG769ZJ9.
PhylomeDBiP35680.
TreeFamiTF320327.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR006899. HNF-1_N.
IPR023219. HNF1_dimer_dom.
IPR006897. HNF1b_C.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
[Graphical view]
PfamiPF04814. HNF-1_N. 1 hit.
PF04812. HNF-1B_C. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF100957. SSF100957. 1 hit.
SSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform A (identifier: P35680-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MVSKLTSLQQ ELLSALLSSG VTKEVLVQAL EELLPSPNFG VKLETLPLSP
60 70 80 90 100
GSGAEPDTKP VFHTLTNGHA KGRLSGDEGS EDGDDYDTPP ILKELQALNT
110 120 130 140 150
EEAAEQRAEV DRMLSEDPWR AAKMIKGYMQ QHNIPQREVV DVTGLNQSHL
160 170 180 190 200
SQHLNKGTPM KTQKRAALYT WYVRKQREIL RQFNQTVQSS GNMTDKSSQD
210 220 230 240 250
QLLFLFPEFS QQSHGPGQSD DACSEPTNKK MRRNRFKWGP ASQQILYQAY
260 270 280 290 300
DRQKNPSKEE REALVEECNR AECLQRGVSP SKAHGLGSNL VTEVRVYNWF
310 320 330 340 350
ANRRKEEAFR QKLAMDAYSS NQTHSLNPLL SHGSPHHQPS SSPPNKLSGV
360 370 380 390 400
RYSQQGNNEI TSSSTISHHG NSAMVTSQSV LQQVSPASLD PGHNLLSPDG
410 420 430 440 450
KMISVSGGGL PPVSTLTNIH SLSHHNPQQS QNLIMTPLSG VMAIAQSLNT
460 470 480 490 500
SQAQSVPVIN SVAGSLAALQ PVQFSQQLHS PHQQPLMQQS PGSHMAQQPF
510 520 530 540 550
MAAVTQLQNS HMYAHKQEPP QYSHTSRFPS AMVVTDTSSI STLTNMSSSK

QCPLQAW
Length:557
Mass (Da):61,324
Last modified:June 1, 1994 - v1
Checksum:i9E1ECC7423B73980
GO
Isoform B (identifier: P35680-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     183-208: Missing.

Show »
Length:531
Mass (Da):58,379
Checksum:iCEC69B827DD176D3
GO
Isoform C (identifier: P35680-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:399
Mass (Da):44,764
Checksum:iCA374B25AB5A2A48
GO
Isoform 4 (identifier: P35680-4) [UniParc]FASTAAdd to Basket

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.

Show »
Length:427
Mass (Da):46,907
Checksum:iDE3646E9A2B068E7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 361S → F in RCAD; gain-of-function mutation. 1 Publication
VAR_046012
Natural varianti61 – 611V → G in RCAD. 1 Publication
VAR_046013
Natural varianti76 – 761G → C in RCAD. 1 Publication
Corresponds to variant rs144425830 [ dbSNP | Ensembl ].
VAR_046014
Natural varianti110 – 1101V → G in RCAD. 1 Publication
VAR_046015
Natural varianti112 – 1121R → P in RCAD. 2 Publications
VAR_046016
Natural varianti136 – 1361Q → E in RCAD. 2 Publications
VAR_046017
Natural varianti148 – 1481S → L in RCAD. 1 Publication
VAR_046018
Natural varianti148 – 1481S → W in RCAD. 1 Publication
VAR_046019
Natural varianti151 – 1511S → P in RCAD. 1 Publication
VAR_046020
Natural varianti153 – 1531H → N in RCAD. 1 Publication
VAR_046021
Natural varianti156 – 1561K → E in RCAD; has diminished transcriptional activity by loss of DNA binding activity. 1 Publication
VAR_046022
Natural varianti164 – 1641K → Q in RCAD. 2 Publications
VAR_046023
Natural varianti165 – 1651R → H in RCAD. 2 Publications
VAR_046024
Natural varianti235 – 2351R → Q in RCAD. 1 Publication
VAR_046025
Natural varianti241 – 2411A → T in RCAD. 1 Publication
VAR_046026
Natural varianti260 – 2601E → D in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B. 1 Publication
VAR_046027
Natural varianti276 – 2761R → G in RCAD. 1 Publication
VAR_046028
Natural varianti276 – 2761R → Q in RCAD. 1 Publication
VAR_046029
Natural varianti285 – 2851G → D in RCAD. 1 Publication
VAR_046030
Natural varianti295 – 2951R → C in RCAD. 1 Publication
VAR_046031
Natural varianti295 – 2951R → H in RCAD. 2 Publications
VAR_046032
Natural varianti295 – 2951R → P in RCAD. 1 Publication
VAR_046033
Natural varianti370 – 3701G → S in RCAD. 1 Publication
Corresponds to variant rs113042313 [ dbSNP | Ensembl ].
VAR_046034
Natural varianti465 – 4651S → R in NIDDM; 22% reduction in activity. 1 Publication
VAR_017665
Natural varianti492 – 4921G → S in diabetes; early onset association; unknown pathological significance. 1 Publication
Corresponds to variant rs1805035 [ dbSNP | Ensembl ].
VAR_012058

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei96 – 12530Missing in isoform 4. 1 PublicationVSP_053327Add
BLAST
Alternative sequencei183 – 20826Missing in isoform B and isoform 4. 3 PublicationsVSP_002254Add
BLAST
Alternative sequencei350 – 40051VRYSQ…LSPDG → KQRLGLTASATQPSWFLPRI LSGLRVFRGANAFEMILGPL SHCQNILPWK in isoform C. 1 PublicationVSP_002255Add
BLAST
Alternative sequencei401 – 557157Missing in isoform C. 1 PublicationVSP_002256Add
BLAST
Alternative sequencei447 – 48337SLNTS…HSPHQ → MSSTSLVMPTHHLLRAQQQG PCFPHHHPLGSCHGKAQ in isoform 4. 1 PublicationVSP_053328Add
BLAST
Alternative sequencei484 – 55774Missing in isoform 4. 1 PublicationVSP_053329Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X58840 mRNA. Translation: CAA41652.1.
X71348 mRNA. Translation: CAB59223.1.
U90287
, 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.
CCDSiCCDS11324.1. [P35680-1]
CCDS58538.1. [P35680-2]
PIRiS34412.
RefSeqiNP_000449.1. NM_000458.2. [P35680-1]
NP_001159395.1. NM_001165923.2. [P35680-2]
UniGeneiHs.191144.

Genome annotation databases

EnsembliENST00000610754; ENSP00000484591; ENSG00000276194. [P35680-1]
ENST00000613727; ENSP00000477524; ENSG00000275410.
ENST00000614955; ENSP00000479629; ENSG00000276194.
ENST00000617811; ENSP00000480291; ENSG00000275410. [P35680-1]
ENST00000621123; ENSP00000482711; ENSG00000275410. [P35680-2]
GeneIDi6928.
KEGGihsa:6928.
UCSCiuc002hok.4. human. [P35680-1]
uc010cve.1. human. [P35680-3]
uc021tvw.1. human.

Polymorphism databases

DMDMi547664.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Hepatocyte nuclear factors entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X58840 mRNA. Translation: CAA41652.1 .
X71348 mRNA. Translation: CAB59223.1 .
U90287
, 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 .
CCDSi CCDS11324.1. [P35680-1 ]
CCDS58538.1. [P35680-2 ]
PIRi S34412.
RefSeqi NP_000449.1. NM_000458.2. [P35680-1 ]
NP_001159395.1. NM_001165923.2. [P35680-2 ]
UniGenei Hs.191144.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2DA6 NMR - A 233-321 [» ]
2H8R X-ray 3.20 A/B 91-310 [» ]
ProteinModelPortali P35680.
SMRi P35680. Positions 91-325.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112790. 5 interactions.
IntActi P35680. 1 interaction.
STRINGi 9606.ENSP00000225893.

PTM databases

PhosphoSitei P35680.

Polymorphism databases

DMDMi 547664.

Proteomic databases

PaxDbi P35680.
PRIDEi P35680.

Protocols and materials databases

DNASUi 6928.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000610754 ; ENSP00000484591 ; ENSG00000276194 . [P35680-1 ]
ENST00000613727 ; ENSP00000477524 ; ENSG00000275410 .
ENST00000614955 ; ENSP00000479629 ; ENSG00000276194 .
ENST00000617811 ; ENSP00000480291 ; ENSG00000275410 . [P35680-1 ]
ENST00000621123 ; ENSP00000482711 ; ENSG00000275410 . [P35680-2 ]
GeneIDi 6928.
KEGGi hsa:6928.
UCSCi uc002hok.4. human. [P35680-1 ]
uc010cve.1. human. [P35680-3 ]
uc021tvw.1. human.

Organism-specific databases

CTDi 6928.
GeneCardsi GC17M036046.
HGNCi HGNC:11630. HNF1B.
HPAi HPA002083.
MIMi 125853. phenotype.
137920. phenotype.
189907. gene.
611955. phenotype.
neXtProti NX_P35680.
Orphaneti 261265. 17q12 microdeletion syndrome.
34528. Autosomal dominant primary hypomagnesemia with hypocalciuria.
97364. Bilateral multicystic dysplastic kidney.
247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
1331. Familial prostate cancer.
2578. MURCS association.
93111. Renal cysts and diabetes syndrome.
97363. Unilateral multicystic dysplastic kidney.
PharmGKBi PA162391083.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG79356.
GeneTreei ENSGT00730000110937.
HOGENOMi HOG000015305.
HOVERGENi HBG005980.
InParanoidi P35680.
KOi K08034.
OMAi MYTHKQE.
OrthoDBi EOG769ZJ9.
PhylomeDBi P35680.
TreeFami TF320327.

Enzyme and pathway databases

Reactomei REACT_13673. Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.
REACT_13778. Regulation of gene expression in early pancreatic precursor cells.

Miscellaneous databases

ChiTaRSi HNF1B. human.
EvolutionaryTracei P35680.
GeneWikii HNF1B.
GenomeRNAii 6928.
NextBioi 27109.
PROi P35680.
SOURCEi Search...

Gene expression databases

Bgeei P35680.
CleanExi HS_HNF1B.
ExpressionAtlasi P35680. differential.
Genevestigatori P35680.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProi IPR006899. HNF-1_N.
IPR023219. HNF1_dimer_dom.
IPR006897. HNF1b_C.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
[Graphical view ]
Pfami PF04814. HNF-1_N. 1 hit.
PF04812. HNF-1B_C. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF100957. SSF100957. 1 hit.
SSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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.
    , 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. 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.
    , 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.

Entry informationi

Entry nameiHNF1B_HUMAN
AccessioniPrimary (citable) accession number: P35680
Secondary accession number(s): B4DKM3, E0YMJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: November 26, 2014
This is version 168 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

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