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Protein

Hepatocyte nuclear factor 1-beta

Gene

HNF1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiR-HSA-210744. Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.
R-HSA-210747. Regulation of gene expression in early pancreatic precursor cells.
SIGNORiP35680.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:11630. HNF1B.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Renal cysts and diabetes syndrome (RCAD)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:137920
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 361S → F in RCAD; gain-of-function mutation. 1 Publication
Corresponds to variant rs544890850 [ dbSNP | Ensembl ].
VAR_046012
Natural varianti61 – 611V → G in RCAD. 1 Publication
Corresponds to variant rs147816724 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121918674 [ dbSNP | Ensembl ].
VAR_046019
Natural varianti151 – 1511S → P in RCAD. 1 Publication
VAR_046020
Natural varianti153 – 1531H → N in RCAD; has diminished transcriptional activity by loss of DNA binding activity. 1 Publication
VAR_046021
Natural varianti156 – 1561K → E in RCAD. 1 Publication
VAR_046022
Natural varianti164 – 1641K → Q in RCAD. 2 Publications
VAR_046023
Natural varianti165 – 1651R → H in RCAD. 2 Publications
Corresponds to variant rs121918675 [ dbSNP | Ensembl ].
VAR_046024
Natural varianti235 – 2351R → Q in RCAD. 1 Publication
VAR_046025
Natural varianti241 – 2411A → T in RCAD. 1 Publication
Corresponds to variant rs761415487 [ dbSNP | Ensembl ].
VAR_046026
Natural varianti260 – 2601E → D in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B. 1 Publication
Corresponds to variant rs536638039 [ dbSNP | Ensembl ].
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)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:125853
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti465 – 4651S → R in NIDDM; 22% reduction in activity. 1 Publication
Corresponds to variant rs121918673 [ dbSNP | Ensembl ].
VAR_017665
Prostate cancer, hereditary, 11 (HPC11)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:611955

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

MalaCardsiHNF1B.
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.

Polymorphism and mutation databases

BioMutaiHNF1B.
DMDMi547664.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei49 – 491PhosphoserineBy similarity
Modified residuei52 – 521PhosphoserineBy similarity
Modified residuei75 – 751PhosphoserineBy similarity
Modified residuei80 – 801PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP35680.
PeptideAtlasiP35680.
PRIDEiP35680.

PTM databases

iPTMnetiP35680.
PhosphoSiteiP35680.

Expressioni

Gene expression databases

BgeeiENSG00000108753.
CleanExiHS_HNF1B.
ExpressionAtlasiP35680. baseline and differential.
GenevisibleiP35680. HS.

Organism-specific databases

HPAiCAB068192.
HPA002083.

Interactioni

Subunit structurei

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

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

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

eggNOGiENOG410IFA0. Eukaryota.
ENOG410ZZZ0. LUCA.
GeneTreeiENSGT00730000110937.
HOGENOMiHOG000015305.
HOVERGENiHBG005980.
InParanoidiP35680.
KOiK08034.
OMAiTHKQEPP.
OrthoDBiEOG091G052F.
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. AlignAdd to basket

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
Corresponds to variant rs544890850 [ dbSNP | Ensembl ].
VAR_046012
Natural varianti61 – 611V → G in RCAD. 1 Publication
Corresponds to variant rs147816724 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121918674 [ dbSNP | Ensembl ].
VAR_046019
Natural varianti151 – 1511S → P in RCAD. 1 Publication
VAR_046020
Natural varianti153 – 1531H → N in RCAD; has diminished transcriptional activity by loss of DNA binding activity. 1 Publication
VAR_046021
Natural varianti156 – 1561K → E in RCAD. 1 Publication
VAR_046022
Natural varianti164 – 1641K → Q in RCAD. 2 Publications
VAR_046023
Natural varianti165 – 1651R → H in RCAD. 2 Publications
Corresponds to variant rs121918675 [ dbSNP | Ensembl ].
VAR_046024
Natural varianti235 – 2351R → Q in RCAD. 1 Publication
VAR_046025
Natural varianti241 – 2411A → T in RCAD. 1 Publication
Corresponds to variant rs761415487 [ dbSNP | Ensembl ].
VAR_046026
Natural varianti260 – 2601E → D in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B. 1 Publication
Corresponds to variant rs536638039 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121918673 [ dbSNP | Ensembl ].
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_000458.3. [P35680-1]
NP_001159395.1. NM_001165923.3. [P35680-2]
NP_001291215.1. NM_001304286.1.
UniGeneiHs.191144.

Genome annotation databases

EnsembliENST00000610754; ENSP00000484591; ENSG00000276194. [P35680-1]
ENST00000617811; ENSP00000480291; ENSG00000275410. [P35680-1]
ENST00000621123; ENSP00000482711; ENSG00000275410. [P35680-2]
ENST00000633792; ENSP00000488080; ENSG00000276194. [P35680-2]
GeneIDi6928.
KEGGihsa:6928.
UCSCiuc010wdi.3. human. [P35680-1]

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.
CCDSiCCDS11324.1. [P35680-1]
CCDS58538.1. [P35680-2]
PIRiS34412.
RefSeqiNP_000449.1. NM_000458.3. [P35680-1]
NP_001159395.1. NM_001165923.3. [P35680-2]
NP_001291215.1. NM_001304286.1.
UniGeneiHs.191144.

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...

Protein-protein interaction databases

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

PTM databases

iPTMnetiP35680.
PhosphoSiteiP35680.

Polymorphism and mutation databases

BioMutaiHNF1B.
DMDMi547664.

Proteomic databases

PaxDbiP35680.
PeptideAtlasiP35680.
PRIDEiP35680.

Protocols and materials databases

DNASUi6928.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000610754; ENSP00000484591; ENSG00000276194. [P35680-1]
ENST00000617811; ENSP00000480291; ENSG00000275410. [P35680-1]
ENST00000621123; ENSP00000482711; ENSG00000275410. [P35680-2]
ENST00000633792; ENSP00000488080; ENSG00000276194. [P35680-2]
GeneIDi6928.
KEGGihsa:6928.
UCSCiuc010wdi.3. human. [P35680-1]

Organism-specific databases

CTDi6928.
GeneCardsiHNF1B.
HGNCiHGNC:11630. HNF1B.
HPAiCAB068192.
HPA002083.
MalaCardsiHNF1B.
MIMi125853. phenotype.
137920. phenotype.
189907. gene.
611955. phenotype.
neXtProtiNX_P35680.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFA0. Eukaryota.
ENOG410ZZZ0. LUCA.
GeneTreeiENSGT00730000110937.
HOGENOMiHOG000015305.
HOVERGENiHBG005980.
InParanoidiP35680.
KOiK08034.
OMAiTHKQEPP.
OrthoDBiEOG091G052F.
PhylomeDBiP35680.
TreeFamiTF320327.

Enzyme and pathway databases

ReactomeiR-HSA-210744. Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.
R-HSA-210747. Regulation of gene expression in early pancreatic precursor cells.
SIGNORiP35680.

Miscellaneous databases

ChiTaRSiHNF1B. human.
EvolutionaryTraceiP35680.
GeneWikiiHNF1B.
GenomeRNAii6928.
PROiP35680.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108753.
CleanExiHS_HNF1B.
ExpressionAtlasiP35680. baseline and differential.
GenevisibleiP35680. HS.

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]
ProtoNetiSearch...

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: September 7, 2016
This is version 184 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.