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P20823

- HNF1A_HUMAN

UniProt

P20823 - HNF1A_HUMAN

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Protein
Hepatocyte nuclear factor 1-alpha
Gene
HNF1A, TCF1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi199 – 27981Homeobox; HNF1-type1 Publication
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: BHF-UCL
  3. protein binding Source: UniProtKB
  4. protein dimerization activity Source: UniProtKB
  5. protein heterodimerization activity Source: UniProtKB
  6. protein homodimerization activity Source: UniProtKB
  7. sequence-specific DNA binding Source: InterPro
  8. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  9. transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

  1. glucose homeostasis Source: UniProtKB
  2. glucose import Source: UniProtKB
  3. insulin secretion Source: UniProtKB
  4. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  5. positive regulation of transcription initiation from RNA polymerase II promoter Source: UniProtKB
  6. positive regulation of transcription, DNA-templated Source: UniProtKB
  7. regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  8. renal glucose absorption Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_13819. Regulation of gene expression in beta cells.
SignaLinkiP20823.

Names & Taxonomyi

Protein namesi
Recommended name:
Hepatocyte nuclear factor 1-alpha
Short name:
HNF-1-alpha
Short name:
HNF-1A
Alternative name(s):
Liver-specific transcription factor LF-B1
Short name:
LFB1
Transcription factor 1
Short name:
TCF-1
Gene namesi
Name:HNF1A
Synonyms:TCF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:11621. HNF1A.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
  3. protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hepatic adenomas familial (HEPAF) [MIM:142330]: Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3).
Note: The disease is caused by mutations affecting the gene represented in this entry. Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the developmant of some hepatocellular carcinomas.
Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Note: The disease is caused by mutations affecting the gene represented in this entry.16 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121L → H in MODY3; abolishes interaction with PCBD1 and DNA. 3 Publications
VAR_010537
Natural varianti20 – 201G → R in MODY3; abolishes interaction with PCBD1 and DNA. 2 Publications
VAR_012483
Natural varianti31 – 311G → D in MODY3; no effect on interaction with PCBD1 and DNA. 2 Publications
VAR_010538
Natural varianti107 – 1071L → R in MODY3. 1 Publication
VAR_010541
Natural varianti117 – 1171K → E in MODY3. 1 Publication
VAR_010542
Natural varianti122 – 1221Y → C in MODY3. 1 Publication
VAR_003756
Natural varianti128 – 1281I → N in MODY3. 1 Publication
VAR_010543
Natural varianti129 – 1291P → T in MODY3. 1 Publication
VAR_010544
Natural varianti131 – 1311R → Q in MODY3; expected to interfere with DNA binding. 2 Publications
VAR_010545
Natural varianti131 – 1311R → W in MODY3; expected to interfere with DNA binding. 2 Publications
VAR_010546
Natural varianti133 – 1331V → M in MODY3.
VAR_010547
Natural varianti142 – 1421S → F in MODY3; reduces transcription activation by about 80%. 2 Publications
VAR_003757
Natural varianti143 – 1431H → Y in MODY3; expected to interfere with DNA binding. 2 Publications
VAR_010548
Natural varianti158 – 1581K → N in MODY3; expected to interfere with DNA binding. 1 Publication
VAR_010549
Natural varianti159 – 1591R → Q in MODY3. 2 Publications
VAR_003758
Natural varianti159 – 1591R → W in MODY3. 2 Publications
VAR_010550
Natural varianti161 – 1611A → T in MODY3. 1 Publication
VAR_010551
Natural varianti200 – 2001R → W in MODY3; expected to interfere with nuclear localization. 1 Publication
VAR_063069
Natural varianti203 – 2031R → C in MODY3; expected to interfere with nuclear localization and DNA binding. 1 Publication
VAR_010554
Natural varianti203 – 2031R → H in MODY3; expected to interfere with nuclear localization and DNA binding. 1 Publication
VAR_012484
Natural varianti205 – 2051K → Q in MODY3; reduces transcription activation by about 50%. 2 Publications
VAR_010555
Natural varianti229 – 2291R → Q in MODY3. 1 Publication
VAR_010556
Natural varianti241 – 2411C → G in IDDM20 and MODY3. 2 Publications
VAR_010557
Natural varianti259 – 2591V → D in MODY3.
VAR_010559
Natural varianti260 – 2601T → M in MODY3. 1 Publication
VAR_010560
Natural varianti263 – 2631R → C in MODY3; expected to interfere with DNA binding. 1 Publication
VAR_010561
Natural varianti271 – 2711R → W in MODY3. 1 Publication
VAR_010562
Natural varianti272 – 2721R → H in IDDM20 and MODY3. 3 Publications
VAR_003759
Natural varianti432 – 4321S → C in MODY3. 1 Publication
VAR_012485
Natural varianti447 – 4471P → L in MODY3. 2 Publications
VAR_003760
Natural varianti519 – 5191P → L in MODY3. 1 Publication
VAR_010567
Natural varianti537 – 5371T → R in MODY3; incomplete penetrance. 1 Publication
VAR_010568
Natural varianti594 – 5941S → I in MODY3.
VAR_010571
Natural varianti618 – 6181I → M in MODY3. 1 Publication
VAR_012486
Natural varianti619 – 6191E → K in MODY3. 1 Publication
VAR_010572
Natural varianti620 – 6201T → I in MODY3; incomplete penetrance. 2 Publications
VAR_010573
Diabetes mellitus, insulin-dependent, 20 (IDDM20) [MIM:612520]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481E → K in IDDM20. 1 Publication
VAR_010539
Natural varianti241 – 2411C → G in IDDM20 and MODY3. 2 Publications
VAR_010557
Natural varianti272 – 2721R → H in IDDM20 and MODY3. 3 Publications
VAR_003759
Natural varianti415 – 4151G → R in IDDM20; loss of function. 1 Publication
VAR_010565
Natural varianti583 – 5831R → G in IDDM20. 1 Publication
VAR_003761

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi127 – 1271N → W: Abolishes transcription activation. 1 Publication
Mutagenesisi132 – 1321E → K: Abolishes transcription activation. 1 Publication
Mutagenesisi177 – 1771F → S: No significant effect on transcription activation. 1 Publication
Mutagenesisi186 – 1861I → Q: No effect on transcription activation. 1 Publication
Mutagenesisi190 – 1901T → Q: No effect on transcription activation. 1 Publication
Mutagenesisi202 – 2021N → D: Reduces transcription activation by 70%. 1 Publication
Mutagenesisi246 – 2461V → D: Reduces transcription activation by 75%. 1 Publication
Mutagenesisi257 – 2571N → W: Reduces transcription activation by 70%. 1 Publication

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

MIMi142330. phenotype.
600496. phenotype.
606391. phenotype.
612520. phenotype.
Orphaneti324575. Hyperinsulinism due to HNF1A deficiency.
552. MODY syndrome.
PharmGKBiPA36380.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 631631Hepatocyte nuclear factor 1-alpha
PRO_0000049115Add
BLAST

Proteomic databases

MaxQBiP20823.
PaxDbiP20823.
PRIDEiP20823.

PTM databases

PhosphoSiteiP20823.

Expressioni

Tissue specificityi

Liver.

Gene expression databases

ArrayExpressiP20823.
BgeeiP20823.
CleanExiHS_HNF1A.
GenevestigatoriP20823.

Organism-specific databases

HPAiCAB010430.
HPA035231.

Interactioni

Subunit structurei

Binds DNA as a dimer. Interacts with PCBD1. Heterotetramer with PCBD1; formed by a dimer of dimers.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
DYRK1BQ9Y4634EBI-636034,EBI-634187
PROX1Q927863EBI-636034,EBI-3912635

Protein-protein interaction databases

BioGridi112789. 37 interactions.
DIPiDIP-33544N.
IntActiP20823. 9 interactions.
STRINGi9606.ENSP00000257555.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi4 – 1916
Helixi23 – 308
Helixi94 – 10714
Helixi112 – 12514
Helixi130 – 1378
Helixi141 – 1499
Helixi156 – 16914
Turni170 – 1734
Helixi174 – 1774
Helixi208 – 22114
Turni226 – 2294
Helixi230 – 24314
Helixi255 – 2573
Helixi261 – 27414

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1IC8X-ray2.60A/B85-278[»]
2GYPX-ray1.40A/B2-32[»]
ProteinModelPortaliP20823.
SMRiP20823. Positions 2-31, 85-286.

Miscellaneous databases

EvolutionaryTraceiP20823.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 3131Dimerization
Add
BLAST
Regioni130 – 1323Interaction with DNA
Regioni143 – 1497Interaction with DNA
Regioni155 – 1584Interaction with DNA
Regioni203 – 2064Interaction with DNA
Regioni263 – 2653Interaction with DNA
Regioni270 – 2734Interaction with DNA

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi197 – 2059Nuclear localization signal Inferred

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi71 – 8010Asp/Glu-rich (acidic; potential involvement with transcription)

Sequence similaritiesi

Belongs to the HNF1 homeobox family.

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG79356.
HOGENOMiHOG000015305.
HOVERGENiHBG005980.
InParanoidiP20823.
KOiK08036.
OMAiSHVAQSP.
OrthoDBiEOG769ZJ9.
PhylomeDBiP20823.
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.
IPR006898. HNF1a_C.
IPR006897. HNF1b_C.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
[Graphical view]
PfamiPF04814. HNF-1_N. 1 hit.
PF04813. HNF-1A_C. 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 (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. Align

Isoform A (identifier: P20823-1) [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

MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC    50
GGGRGELAEL PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ 100
KAVVETLLQE DPWRVAKMVK SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK 150
GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA GQGGLIEEPT GDELPTKKGR 200
RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE CIQRGVSPSQ 250
AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP 300
AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ 350
VSPTGLEPSH SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP 400
QNLIMASLPG VMTIGPGEPA SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN 450
SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV QSHVTQSPFM ATMAQLQSPH 500
ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK QVFTSDTEAS 550
SESGLHTPAS QATTLHVPSQ DPAGIQHLQP AHRLSASPTV SSSSLVLYQS 600
SDSSNGQSHL LPSNHSVIET FISTQMASSS Q 631
Length:631
Mass (Da):67,356
Last modified:August 16, 2004 - v2
Checksum:i8327CD4FDC39254A
GO
Isoform B (identifier: P20823-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     501-542: ALYSHKPEVA...LASLTPTKQV → GEHPVPHTAG...ACVSGTSVFP
     543-601: Missing.

Show »
Length:572
Mass (Da):61,112
Checksum:iE9BD79E885C2E3C0
GO
Isoform C (identifier: P20823-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     438-494: LASTQAQSVP...TQSPFMATMA → KLVGMGGHLG...SHCATSVIPG
     495-601: Missing.

Show »
Length:524
Mass (Da):55,930
Checksum:iF6855702DE665780
GO
Isoform 4 (identifier: P20823-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     176-278: QFTHAGQGGL...ANRRKEEAFR → RRNASREGCP...QKYPQAAAVP
     279-631: Missing.

Show »
Length:278
Mass (Da):30,407
Checksum:i1AB561D8993D268F
GO
Isoform 5 (identifier: P20823-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     239-247: AECIQRGVS → CALWTACDQ
     248-631: Missing.

Show »
Length:247
Mass (Da):27,519
Checksum:i65A8988847FC27DF
GO
Isoform 6 (identifier: P20823-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-117: Missing.
     438-520: LASTQAQSVP...QYTHTGLLPQ → KLVGMGGHLG...NTSILWYLRR
     521-631: Missing.

Show »
Length:403
Mass (Da):43,469
Checksum:i5D22409F773364C6
GO
Isoform 7 (identifier: P20823-7) [UniParc]FASTAAdd to Basket

Also known as: insIVS8

The sequence of this isoform differs from the canonical sequence as follows:
     540-540: K → KQVRSRPAGPPLACDRAPHPHIPRAQEAALLP

Note: Due to intron retention.

Show »
Length:662
Mass (Da):70,661
Checksum:iFCCE6C78F8F6676F
GO
Isoform 8 (identifier: P20823-8) [UniParc]FASTAAdd to Basket

Also known as: delta 2

The sequence of this isoform differs from the canonical sequence as follows:
     110-119: EDPWRVAKMV → VHPCRAGRAD
     120-631: Missing.

Note: No experimental confirmation available.

Show »
Length:119
Mass (Da):12,491
Checksum:i136DC46C438C5BC9
GO

Polymorphismi

The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and insulin responses.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121L → H in MODY3; abolishes interaction with PCBD1 and DNA. 3 Publications
VAR_010537
Natural varianti20 – 201G → R in MODY3; abolishes interaction with PCBD1 and DNA. 2 Publications
VAR_012483
Natural varianti27 – 271I → L.7 Publications
Corresponds to variant rs1169288 [ dbSNP | Ensembl ].
VAR_007905
Natural varianti31 – 311G → D in MODY3; no effect on interaction with PCBD1 and DNA. 2 Publications
VAR_010538
Natural varianti48 – 481E → K in IDDM20. 1 Publication
VAR_010539
Natural varianti98 – 981A → V.3 Publications
Corresponds to variant rs1800574 [ dbSNP | Ensembl ].
VAR_010540
Natural varianti107 – 1071L → R in MODY3. 1 Publication
VAR_010541
Natural varianti117 – 1171K → E in MODY3. 1 Publication
VAR_010542
Natural varianti122 – 1221Y → C in MODY3. 1 Publication
VAR_003756
Natural varianti127 – 1271N → Y in a hepatocellular carcinoma sample; somatic mutation. 1 Publication
VAR_033088
Natural varianti128 – 1281I → N in MODY3. 1 Publication
VAR_010543
Natural varianti129 – 1291P → T in MODY3. 1 Publication
VAR_010544
Natural varianti131 – 1311R → Q in MODY3; expected to interfere with DNA binding. 2 Publications
VAR_010545
Natural varianti131 – 1311R → W in MODY3; expected to interfere with DNA binding. 2 Publications
VAR_010546
Natural varianti133 – 1331V → M in MODY3.
VAR_010547
Natural varianti142 – 1421S → F in MODY3; reduces transcription activation by about 80%. 2 Publications
VAR_003757
Natural varianti143 – 1431H → Y in MODY3; expected to interfere with DNA binding. 2 Publications
VAR_010548
Natural varianti158 – 1581K → N in MODY3; expected to interfere with DNA binding. 1 Publication
VAR_010549
Natural varianti159 – 1591R → Q in MODY3. 2 Publications
VAR_003758
Natural varianti159 – 1591R → W in MODY3. 2 Publications
VAR_010550
Natural varianti161 – 1611A → T in MODY3. 1 Publication
VAR_010551
Natural varianti165 – 1651W → C in a hepatocellular carcinoma sample; somatic mutation. 1 Publication
VAR_033089
Natural varianti191 – 1911G → D in late-onset NIDDM. 1 Publication
VAR_010552
Natural varianti200 – 2001R → W in MODY3; expected to interfere with nuclear localization. 1 Publication
VAR_063069
Natural varianti203 – 2031R → C in MODY3; expected to interfere with nuclear localization and DNA binding. 1 Publication
VAR_010554
Natural varianti203 – 2031R → H in MODY3; expected to interfere with nuclear localization and DNA binding. 1 Publication
VAR_012484
Natural varianti205 – 2051K → Q in MODY3; reduces transcription activation by about 50%. 2 Publications
VAR_010555
Natural varianti206 – 2061W → C in a hepatic adenoma sample; somatic mutation; expected to interfere with DNA binding. 1 Publication
VAR_033090
Natural varianti206 – 2061W → L in a hepatic adenoma sample; somatic mutation; expected to interfere with DNA binding. 1 Publication
VAR_033091
Natural varianti229 – 2291R → Q in MODY3. 1 Publication
VAR_010556
Natural varianti237 – 2371N → S in a hepatic multiple adenoma sample; somatic mutation. 1 Publication
VAR_033092
Natural varianti241 – 2411C → G in IDDM20 and MODY3. 2 Publications
VAR_010557
Natural varianti244 – 2441R → G in a hepatic adenoma sample; somatic mutation; expected to interfere with DNA binding. 1 Publication
VAR_033093
Natural varianti250 – 2501Q → P in a hepatocellular carcinoma sample; somatic mutation. 1 Publication
VAR_033094
Natural varianti254 – 2541L → M in late-onset NIDDM; low penetrance; unknown pathological significance. 1 Publication
VAR_010558
Natural varianti259 – 2591V → D in MODY3.
VAR_010559
Natural varianti260 – 2601T → M in MODY3. 1 Publication
VAR_010560
Natural varianti263 – 2631R → C in MODY3; expected to interfere with DNA binding. 1 Publication
VAR_010561
Natural varianti268 – 2681F → C in a hepatic adenoma sample; somatic mutation. 1 Publication
VAR_033095
Natural varianti271 – 2711R → W in MODY3. 1 Publication
VAR_010562
Natural varianti272 – 2721R → C in NIDDM. 1 Publication
VAR_010563
Natural varianti272 – 2721R → H in IDDM20 and MODY3. 3 Publications
VAR_003759
Natural varianti273 – 2731K → E in a hepatic adenoma sample; somatic mutation. 2 Publications
VAR_033096
Natural varianti319 – 3191G → S Strong association with NIDDM susceptibility; unique to the Canadian Oji-Cree population. 1 Publication
VAR_010564
Natural varianti415 – 4151G → R in IDDM20; loss of function. 1 Publication
VAR_010565
Natural varianti432 – 4321S → C in MODY3. 1 Publication
VAR_012485
Natural varianti447 – 4471P → L in MODY3. 2 Publications
VAR_003760
Natural varianti487 – 4871S → N.6 Publications
Corresponds to variant rs2464196 [ dbSNP | Ensembl ].
VAR_007906
Natural varianti514 – 5141H → R.1 Publication
VAR_010566
Natural varianti519 – 5191P → L in MODY3. 1 Publication
VAR_010567
Natural varianti537 – 5371T → R in MODY3; incomplete penetrance. 1 Publication
VAR_010568
Natural varianti574 – 5741G → S in a black African with an atypical form of diabetes; also in an individual with hepatic adenoma and familial early-onset diabetes. 4 Publications
Corresponds to variant rs1169305 [ dbSNP | Ensembl ].
VAR_010569
Natural varianti583 – 5831R → G in IDDM20. 1 Publication
VAR_003761
Natural varianti583 – 5831R → Q in late-onset NIDDM; also in an individual with hepatic hyperplasia and familial early-onset diabetes. 2 Publications
VAR_010570
Natural varianti594 – 5941S → I in MODY3.
VAR_010571
Natural varianti618 – 6181I → M in MODY3. 1 Publication
VAR_012486
Natural varianti619 – 6191E → K in MODY3. 1 Publication
VAR_010572
Natural varianti620 – 6201T → I in MODY3; incomplete penetrance. 2 Publications
VAR_010573

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 117117Missing in isoform 6.
VSP_053324Add
BLAST
Alternative sequencei110 – 11910EDPWRVAKMV → VHPCRAGRAD in isoform 8.
VSP_054300
Alternative sequencei120 – 631512Missing in isoform 8.
VSP_054301Add
BLAST
Alternative sequencei176 – 278103QFTHA…EEAFR → RRNASREGCPHHRHRGWAPT SSRRCVSTTGLPTGAKKKPS GTSWPWTRTAGPPQGQARDL RCPLTAPLACLHLPSPPVRS TVCAMDSLRPVRLQKYPQAA AVP in isoform 4.
VSP_047736Add
BLAST
Alternative sequencei239 – 2479AECIQRGVS → CALWTACDQ in isoform 5.
VSP_047737
Alternative sequencei248 – 631384Missing in isoform 5.
VSP_047738Add
BLAST
Alternative sequencei279 – 631353Missing in isoform 4.
VSP_047739Add
BLAST
Alternative sequencei438 – 52083LASTQ…GLLPQ → KLVGMGGHLGGRLMGQPQNP GAGRATGTHSFIHTTCIYPV PTLDQSLCYISDTWVNQTDQ NLSNSSREAGTKHNTSILWY LRR in isoform 6.
VSP_053325Add
BLAST
Alternative sequencei438 – 49457LASTQ…MATMA → KLVGMGGHLGGRLMGQPQNP GAGRATGTHSFIHSFIQHVF IQCLLWTSHCATSVIPG in isoform C.
VSP_002252Add
BLAST
Alternative sequencei495 – 601107Missing in isoform C.
VSP_002253Add
BLAST
Alternative sequencei501 – 54242ALYSH…PTKQV → GEHPVPHTAGDDDRGWLSMD AGERGAWQALQSACVSGTSV FP in isoform B.
VSP_002250Add
BLAST
Alternative sequencei521 – 631111Missing in isoform 6.
VSP_053326Add
BLAST
Alternative sequencei540 – 5401K → KQVRSRPAGPPLACDRAPHP HIPRAQEAALLP in isoform 7.
VSP_054302
Alternative sequencei543 – 60159Missing in isoform B.
VSP_002251Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 7 (identifier: P20823-7)
Sequence conflicti551 – 5511L → S in ADK56177. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M57732 mRNA. Translation: AAA88077.1.
X71346 mRNA. Translation: CAB59201.1.
U72618
, U72612, U72613, U72614, U72615, U72616, U72617 Genomic DNA. Translation: AAC51137.1.
HM116552 mRNA. Translation: ADM43489.1.
HM116557 mRNA. Translation: ADM43494.1.
HM116558 mRNA. Translation: ADM43495.1.
HM449088 mRNA. Translation: ADK56177.1.
HM449089 mRNA. Translation: ADK56178.1.
EF641294 Genomic DNA. Translation: ABR09270.1.
AC079602 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW98226.1.
BC104908 mRNA. Translation: AAI04909.1.
BC104910 mRNA. Translation: AAI04911.1.
CCDSiCCDS9209.1. [P20823-1]
PIRiA36749.
RefSeqiNP_000536.5. NM_000545.5. [P20823-1]
UniGeneiHs.654455.

Genome annotation databases

EnsembliENST00000538646; ENSP00000443964; ENSG00000135100. [P20823-4]
ENST00000540108; ENSP00000445445; ENSG00000135100.
ENST00000541395; ENSP00000443112; ENSG00000135100.
ENST00000541924; ENSP00000440361; ENSG00000135100. [P20823-5]
ENST00000543427; ENSP00000439721; ENSG00000135100. [P20823-6]
GeneIDi6927.
KEGGihsa:6927.
UCSCiuc001tze.2. human. [P20823-3]
uc001tzf.3. human. [P20823-2]
uc001tzg.3. human. [P20823-1]

Polymorphism databases

DMDMi51338763.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Hepatocyte nuclear factors entry

SeattleSNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M57732 mRNA. Translation: AAA88077.1 .
X71346 mRNA. Translation: CAB59201.1 .
U72618
, U72612 , U72613 , U72614 , U72615 , U72616 , U72617 Genomic DNA. Translation: AAC51137.1 .
HM116552 mRNA. Translation: ADM43489.1 .
HM116557 mRNA. Translation: ADM43494.1 .
HM116558 mRNA. Translation: ADM43495.1 .
HM449088 mRNA. Translation: ADK56177.1 .
HM449089 mRNA. Translation: ADK56178.1 .
EF641294 Genomic DNA. Translation: ABR09270.1 .
AC079602 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW98226.1 .
BC104908 mRNA. Translation: AAI04909.1 .
BC104910 mRNA. Translation: AAI04911.1 .
CCDSi CCDS9209.1. [P20823-1 ]
PIRi A36749.
RefSeqi NP_000536.5. NM_000545.5. [P20823-1 ]
UniGenei Hs.654455.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1IC8 X-ray 2.60 A/B 85-278 [» ]
2GYP X-ray 1.40 A/B 2-32 [» ]
ProteinModelPortali P20823.
SMRi P20823. Positions 2-31, 85-286.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112789. 37 interactions.
DIPi DIP-33544N.
IntActi P20823. 9 interactions.
STRINGi 9606.ENSP00000257555.

PTM databases

PhosphoSitei P20823.

Polymorphism databases

DMDMi 51338763.

Proteomic databases

MaxQBi P20823.
PaxDbi P20823.
PRIDEi P20823.

Protocols and materials databases

DNASUi 6927.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000538646 ; ENSP00000443964 ; ENSG00000135100 . [P20823-4 ]
ENST00000540108 ; ENSP00000445445 ; ENSG00000135100 .
ENST00000541395 ; ENSP00000443112 ; ENSG00000135100 .
ENST00000541924 ; ENSP00000440361 ; ENSG00000135100 . [P20823-5 ]
ENST00000543427 ; ENSP00000439721 ; ENSG00000135100 . [P20823-6 ]
GeneIDi 6927.
KEGGi hsa:6927.
UCSCi uc001tze.2. human. [P20823-3 ]
uc001tzf.3. human. [P20823-2 ]
uc001tzg.3. human. [P20823-1 ]

Organism-specific databases

CTDi 6927.
GeneCardsi GC12P121416.
H-InvDB HIX0036847.
HGNCi HGNC:11621. HNF1A.
HPAi CAB010430.
HPA035231.
MIMi 142330. phenotype.
142410. gene.
600496. phenotype.
606391. phenotype.
612520. phenotype.
neXtProti NX_P20823.
Orphaneti 324575. Hyperinsulinism due to HNF1A deficiency.
552. MODY syndrome.
PharmGKBi PA36380.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG79356.
HOGENOMi HOG000015305.
HOVERGENi HBG005980.
InParanoidi P20823.
KOi K08036.
OMAi SHVAQSP.
OrthoDBi EOG769ZJ9.
PhylomeDBi P20823.
TreeFami TF320327.

Enzyme and pathway databases

Reactomei REACT_13819. Regulation of gene expression in beta cells.
SignaLinki P20823.

Miscellaneous databases

EvolutionaryTracei P20823.
GeneWikii HNF1A.
GenomeRNAii 6927.
NextBioi 27105.
PROi P20823.
SOURCEi Search...

Gene expression databases

ArrayExpressi P20823.
Bgeei P20823.
CleanExi HS_HNF1A.
Genevestigatori P20823.

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.
IPR006898. HNF1a_C.
IPR006897. HNF1b_C.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
[Graphical view ]
Pfami PF04814. HNF-1_N. 1 hit.
PF04813. HNF-1A_C. 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. "Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse."
    Bach I., Galcheva-Gargova Z., Mattei M.-G., Simon-Chazottes D., Guenet J.-L., Cereghini S., Yaniv M.
    Genomics 8:155-164(1990) [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] (ISOFORM A), ALTERNATIVE SPLICING.
    Tissue: Liver.
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MODY3 LEU-447.
  4. "Homo sapiens HNF1 alpha B mRNA splicing variants."
    Yang C.-W., Tsai D.-Y.
    Submitted (APR-2010) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5 AND 6).
  5. "New isoforms in HNF1A."
    Gonzalez Ruano E., Gonzalez Sarmiento R.
    Submitted (JUN-2010) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7), VARIANT SER-574.
  6. SeattleSNPs variation discovery resource
    Submitted (MAY-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LEU-27; VAL-98; ASN-487 AND SER-574.
  7. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "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], VARIANT LEU-27.
    Tissue: Liver.
  10. "Diabetes mutations delineate an atypical POU domain in HNF-1alpha."
    Chi Y.I., Frantz J.D., Oh B.C., Hansen L., Dhe-Paganon S., Shoelson S.E.
    Mol. Cell 10:1129-1137(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 85-278 IN COMPLEX WITH DNA, FUNCTION, DNA-BINDING, MUTAGENESIS OF ASN-127; GLU-132; PHE-177; ILE-186; THR-190; ASN-202; VAL-246 AND ASN-257, CHARACTERIZATION OF VARIANTS MODY3 PHE-142 AND GLN-205.
  11. "Diabetes mellitus due to misfolding of a beta-cell transcription factor: stereospecific frustration of a Schellman motif in HNF-1alpha."
    Narayana N., Phillips N.B., Hua Q.X., Jia W., Weiss M.A.
    J. Mol. Biol. 362:414-429(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.4 ANGSTROMS) OF 2-32, CIRCULAR DICHROISM.
  12. Cited for: VARIANTS MODY3 ARG-107; TRP-131; MET-260 AND HIS-272.
  13. "Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM."
    Iwasaki N., Oda N., Ogata M., Hara M., Hinokio Y., Oda Y., Yamagata K., Kanematsu S., Ohgawara H., Omori Y., Bell G.I.
    Diabetes 46:1504-1508(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MODY3 HIS-12; GLN-131; GLN-205 AND CYS-263, VARIANT NIDDM ASP-191.
  14. "Mutations in the hepatocyte nuclear factor-1alpha gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects."
    Yamada S., Nishigori H., Onda H., Takahashi K., Kitano N., Morikawa A., Takeuchi T., Takeda J.
    Diabetes 46:1512-1513(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NIDDM MET-254, VARIANTS LEU-27 AND ASN-487.
  15. "Identification of mutations in the hepatocyte nuclear factor (HNF)-1-alpha gene in Japanese subjects with IDDM."
    Yamada S., Nishigori H., Onda H., Utsugi T., Yanagawa T., Maruyama T., Onigata K., Nagashima K., Nagai R., Morikawa A., Takeuchi T., Takeda J.
    Diabetes 46:1643-1647(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS IDDM20 HIS-272 AND GLY-583.
  16. "An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1alpha gene (maturity-onset diabetes of the young)."
    Boutin P., Chevre J.-C., Hani E.H., Gomis R., Pardini V.C., Guillausseau P.-J., Vaxillaire M., Velho G., Froguel P.
    Diabetes 46:2108-2109(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MODY3, VARIANT ATYPICAL DIABETES SER-574.
  17. "Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4."
    Kaisaki P.J., Menzel S., Lindner T., Oda N., Rjasanowski I., Sahm J., Meincke G., Schulze J., Schmechel H., Petzold C., Ledermann H.M., Sachse G., Boriraj V.V., Menzel R., Kerner W., Turner R.C., Yamagata K., Bell G.I.
    Diabetes 46:528-535(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MODY3 GLN-131; GLN-229; GLY-241 AND HIS-272.
  18. "Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K."
    Frayling T.M., Bulman M.P., Ellard S., Appleton M., Dronsfield M.J., Mackie A.D., Baird J.D., Kaisaki P.J., Yamagata K., Bell G.I., Bain S.C., Hattersley A.T.
    Diabetes 46:720-725(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MODY3 THR-129; TRP-131; TRP-159; LEU-519 AND ILE-620.
  19. "Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation."
    Hansen T., Eiberg H., Rouard M., Vaxillaire M., Moeller A.M., Rasmussen S.K., Fridberg M., Urhammer S.A., Holst J.J., Almind K., Echwald S.M., Hansen L., Bell G.I., Pedersen O.
    Diabetes 46:726-730(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MODY3 ASN-128; TYR-143 AND LEU-447.
  20. "A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1alpha gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge."
    Urhammer S.A., Fridberg M., Hansen T., Rasmussen S.K., Moeller A.M., Clausen J.O., Pedersen O.
    Diabetes 46:912-916(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LEU-27; VAL-98 AND ASN-487.
  21. "Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM."
    Urhammer S.A., Rasmussen S.K., Kaisaki P.J., Oda N., Yamagata K., Moeller A.M., Fridberg M., Hansen L., Hansen T., Bell G.I., Pedersen O.
    Diabetologia 40:473-475(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NIDDM GLN-583, VARIANTS LEU-27; VAL-98 AND ASN-487.
  22. "Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3)."
    Vaxillaire M., Rouard M., Yamagata K., Oda N., Kaisaki P.J., Boriraj V.V., Chevre J.-C., Boccio V., Cox R.D., Lathrop G.M., Dussoix P., Philippe J., Timsit J., Charpentier G., Velho G., Bell G.I., Froguel P.
    Hum. Mol. Genet. 6:583-586(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MODY3 CYS-122; PHE-142 AND GLN-159.
  23. "Hepatocyte nuclear factor 1alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews."
    Behn P.S., Wasson J., Chayen S., Smolovitch I., Thomas J.D., Glaser B., Permutt M.A.
    Diabetes 47:967-969(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LEU-27; ASN-487 AND ARG-514.
  24. Cited for: VARIANTS MODY3 ASP-31; TRP-159; THR-161; TRP-200 AND TRP-271.
  25. "Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having type I diabetes."
    Moeller A.M., Dalgaard L.T., Pociot F., Nerup J., Hansen T., Pedersen O.
    Diabetologia 41:1528-1531(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS IDDM20 LYS-48 AND GLY-241.
  26. "Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: evidence for novel mutations in exons 8 and 10."
    Elbein S.C., Teng K., Yount P., Scroggin E.
    J. Clin. Endocrinol. Metab. 83:2059-2065(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MODY3 ARG-537 AND LYS-619.
  27. "Mutations in the hepatocyte nuclear factor-1 alpha gene 'MODY3' are not a major cause of early-onset non-insulin-dependent 'type 2' diabetes mellitus in Japanese."
    Nishigori H., Yamada S., Kohama T., Utsugi T., Shimizu H., Takeuchi T., Takeda J.
    J. Hum. Genet. 43:107-110(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LEU-27 AND ASN-487.
  28. "Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins."
    Yamada S., Tomura H., Nishigori H., Sho K., Mabe H., Iwatani N., Takumi T., Kito Y., Moriya N., Muroya K., Ogata T., Onigata K., Morikawa A., Inoue I., Takeda J.
    Diabetes 48:645-648(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MODY3 HIS-12; ASN-158; GLN-159 AND CYS-203.
  29. "Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young."
    Ellard S., Bulman M.P., Frayling T.M., Allen L.I.S., Dronsfield M.J., Tack C.J., Hattersley A.T.
    Diabetes 48:921-923(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MODY3 GLU-117 AND TYR-143.
  30. "Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization."
    Yoshiuchi I., Yamagata K., Yang Q., Iwahashi H., Okita K., Yamamoto K., Oue T., Imagawa A., Hamaguchi T., Yamasaki T., Horikawa Y., Satoh T., Nakajima H., Miyazaki J., Higashiyama S., Miyagawa J., Namba M., Hanafusa T., Matsuzawa Y.
    Diabetologia 42:621-626(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NIDDM CYS-272, VARIANT IDDM20 ARG-415.
  31. "Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY."
    Ng M.C.Y., Cockburn B.N., Lindner T.H., Yeung V.T.F., Chow C.-C., So W.-Y., Li J.K.Y., Lo Y.M.D., Lee Z.S.K., Cockram C.S., Critchley J.A.J.H., Bell G.I., Chan J.C.N.
    Diabet. Med. 16:956-963(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MODY3 ARG-20; HIS-203; CYS-432 AND MET-618.
  32. "Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing."
    Miedzybrodzka Z., Hattersley A.T., Ellard S., Pearson D., de Silva D., Harvey R., Haites N.
    Eur. J. Hum. Genet. 7:729-732(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MODY3 ILE-620.
  33. "The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree."
    Hegele R.A., Cao H., Harris S.B., Hanley A.J.G., Zinman B.
    J. Clin. Endocrinol. Metab. 84:1077-1082(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-319.
  34. "Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha."
    Rose R.B., Bayle J.H., Endrizzi J.A., Cronk J.D., Crabtree G.R., Alber T.
    Nat. Struct. Biol. 7:744-748(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS MODY3 HIS-12; ARG-20 AND ASP-31, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PCBD1.
  35. Cited for: INVOLVEMENT IN HEPATIC ADENOMAS, VARIANTS TYR-127; CYS-165; CYS-206; LEU-206; SER-237; GLY-244; PRO-250; CYS-268; GLU-273; SER-574 AND GLN-583.
  36. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-273.

Entry informationi

Entry nameiHNF1A_HUMAN
AccessioniPrimary (citable) accession number: P20823
Secondary accession number(s): A5Z2R8
, E0YMJ5, E0YMK0, E0YMK1, E2I9R4, E2I9R5, F5H5U3, Q2M3H2, Q99861
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: August 16, 2004
Last modified: September 3, 2014
This is version 182 of the entry and version 2 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 12
    Human chromosome 12: 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

Dasty 3

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