Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P20823 (HNF1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 178. Feed History...

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

Names and origin

Protein namesRecommended 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 names
Name:HNF1A
Synonyms:TCF1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length631 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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'. Ref.10 Ref.34

Subunit structure

Binds DNA as a dimer. Interacts with PCBD1. Heterotetramer with PCBD1; formed by a dimer of dimers. Ref.34

Subcellular location

Nucleus Ref.34.

Tissue specificity

Liver.

Polymorphism

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

Involvement in disease

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. Ref.3 Ref.10 Ref.12 Ref.13 Ref.16 Ref.17 Ref.18 Ref.19 Ref.22 Ref.24 Ref.26 Ref.28 Ref.29 Ref.31 Ref.32 Ref.34

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. Ref.15 Ref.25 Ref.30

Sequence similarities

Belongs to the HNF1 homeobox family.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDiabetes mellitus
Disease mutation
   DomainHomeobox
   LigandDNA-binding
   Molecular functionActivator
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processSMAD protein signal transduction

Inferred from electronic annotation. Source: Ensembl

bile acid and bile salt transport

Inferred from electronic annotation. Source: Ensembl

bile acid biosynthetic process

Inferred from electronic annotation. Source: Ensembl

blastocyst development

Inferred from electronic annotation. Source: Ensembl

bone resorption

Inferred from electronic annotation. Source: Ensembl

cholesterol metabolic process

Inferred from electronic annotation. Source: Ensembl

chromatin remodeling

Inferred from electronic annotation. Source: Ensembl

embryonic limb morphogenesis

Inferred from electronic annotation. Source: Ensembl

endocrine pancreas development

Inferred from electronic annotation. Source: Ensembl

fatty acid biosynthetic process

Inferred from electronic annotation. Source: Ensembl

fatty acid transport

Inferred from electronic annotation. Source: Ensembl

glucose homeostasis

Inferred from mutant phenotype PubMed 11269503PubMed 15277395. Source: UniProtKB

glucose import

Inferred from mutant phenotype PubMed 11269503. Source: UniProtKB

heme biosynthetic process

Inferred from electronic annotation. Source: Ensembl

insulin secretion

Inferred from electronic annotation. Source: Ensembl

liver development

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

paraxial mesoderm formation

Inferred from electronic annotation. Source: Ensembl

placenta development

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of transcription initiation from RNA polymerase II promoter

Inferred from genetic interaction PubMed 15355349. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 11980910Ref.10PubMed 12530534. Source: UniProtKB

protein localization

Inferred from electronic annotation. Source: Ensembl

regulation of Wnt signaling pathway

Inferred from electronic annotation. Source: Ensembl

regulation of insulin secretion

Inferred from electronic annotation. Source: Ensembl

regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 10330009. Source: BHF-UCL

renal glucose absorption

Inferred from mutant phenotype PubMed 11269503. Source: UniProtKB

reproductive structure development

Inferred from electronic annotation. Source: Ensembl

response to glucose

Inferred from electronic annotation. Source: Ensembl

response to oxidative stress

Inferred from electronic annotation. Source: Ensembl

reverse cholesterol transport

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 15355349PubMed 12530534. Source: UniProtKB

nucleus

Inferred from direct assay PubMed 15355349PubMed 12530534. Source: UniProtKB

photoreceptor outer segment

Inferred from electronic annotation. Source: Ensembl

pronucleus

Inferred from electronic annotation. Source: Ensembl

protein complex

Inferred from direct assay PubMed 11980910. Source: UniProtKB

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from direct assay Ref.30PubMed 12530534PubMed 1677179. Source: UniProtKB

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from sequence or structural similarity. Source: BHF-UCL

double-stranded DNA binding

Inferred from electronic annotation. Source: Ensembl

protein dimerization activity

Inferred from physical interaction Ref.10. Source: UniProtKB

protein heterodimerization activity

Inferred from direct assay PubMed 12530534. Source: UniProtKB

protein homodimerization activity

Inferred from physical interaction PubMed 1677179. Source: UniProtKB

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding transcription factor activity

Inferred from direct assay PubMed 11980910PubMed 12530534. Source: UniProtKB

transcription regulatory region DNA binding

Inferred from direct assay Ref.10. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

DYRK1BQ9Y4634EBI-636034,EBI-634187

Alternative products

This entry describes 8 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: P20823-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform B (identifier: P20823-2)

The sequence of this isoform differs from the canonical sequence as follows:
     501-542: ALYSHKPEVA...LASLTPTKQV → GEHPVPHTAG...ACVSGTSVFP
     543-601: Missing.
Isoform C (identifier: P20823-3)

The sequence of this isoform differs from the canonical sequence as follows:
     438-494: LASTQAQSVP...TQSPFMATMA → KLVGMGGHLG...SHCATSVIPG
     495-601: Missing.
Isoform 4 (identifier: P20823-4)

The sequence of this isoform differs from the canonical sequence as follows:
     176-278: QFTHAGQGGL...ANRRKEEAFR → RRNASREGCP...QKYPQAAAVP
     279-631: Missing.
Isoform 5 (identifier: P20823-5)

The sequence of this isoform differs from the canonical sequence as follows:
     239-247: AECIQRGVS → CALWTACDQ
     248-631: Missing.
Isoform 6 (identifier: P20823-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-117: Missing.
     438-520: LASTQAQSVP...QYTHTGLLPQ → KLVGMGGHLG...NTSILWYLRR
     521-631: Missing.
Isoform 7 (identifier: P20823-7)

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.
Isoform 8 (identifier: P20823-8)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 631631Hepatocyte nuclear factor 1-alpha
PRO_0000049115

Regions

DNA binding199 – 27981Homeobox; HNF1-type Ref.10
Region1 – 3131Dimerization
Region130 – 1323Interaction with DNA
Region143 – 1497Interaction with DNA
Region155 – 1584Interaction with DNA
Region203 – 2064Interaction with DNA
Region263 – 2653Interaction with DNA
Region270 – 2734Interaction with DNA
Motif197 – 2059Nuclear localization signal Probable
Compositional bias71 – 8010Asp/Glu-rich (acidic; potential involvement with transcription)

Natural variations

Alternative sequence1 – 117117Missing in isoform 6.
VSP_053324
Alternative sequence110 – 11910EDPWRVAKMV → VHPCRAGRAD in isoform 8.
VSP_054300
Alternative sequence120 – 631512Missing in isoform 8.
VSP_054301
Alternative sequence176 – 278103QFTHA…EEAFR → RRNASREGCPHHRHRGWAPT SSRRCVSTTGLPTGAKKKPS GTSWPWTRTAGPPQGQARDL RCPLTAPLACLHLPSPPVRS TVCAMDSLRPVRLQKYPQAA AVP in isoform 4.
VSP_047736
Alternative sequence239 – 2479AECIQRGVS → CALWTACDQ in isoform 5.
VSP_047737
Alternative sequence248 – 631384Missing in isoform 5.
VSP_047738
Alternative sequence279 – 631353Missing in isoform 4.
VSP_047739
Alternative sequence438 – 52083LASTQ…GLLPQ → KLVGMGGHLGGRLMGQPQNP GAGRATGTHSFIHTTCIYPV PTLDQSLCYISDTWVNQTDQ NLSNSSREAGTKHNTSILWY LRR in isoform 6.
VSP_053325
Alternative sequence438 – 49457LASTQ…MATMA → KLVGMGGHLGGRLMGQPQNP GAGRATGTHSFIHSFIQHVF IQCLLWTSHCATSVIPG in isoform C.
VSP_002252
Alternative sequence495 – 601107Missing in isoform C.
VSP_002253
Alternative sequence501 – 54242ALYSH…PTKQV → GEHPVPHTAGDDDRGWLSMD AGERGAWQALQSACVSGTSV FP in isoform B.
VSP_002250
Alternative sequence521 – 631111Missing in isoform 6.
VSP_053326
Alternative sequence5401K → KQVRSRPAGPPLACDRAPHP HIPRAQEAALLP in isoform 7.
VSP_054302
Alternative sequence543 – 60159Missing in isoform B.
VSP_002251
Natural variant121L → H in MODY3; abolishes interaction with PCBD1 and DNA. Ref.13 Ref.28 Ref.34
VAR_010537
Natural variant201G → R in MODY3; abolishes interaction with PCBD1 and DNA. Ref.31 Ref.34
VAR_012483
Natural variant271I → L. Ref.5 Ref.9 Ref.14 Ref.20 Ref.21 Ref.23 Ref.27
Corresponds to variant rs1169288 [ dbSNP | Ensembl ].
VAR_007905
Natural variant311G → D in MODY3; no effect on interaction with PCBD1 and DNA. Ref.24 Ref.34
VAR_010538
Natural variant481E → K in IDDM20. Ref.25
VAR_010539
Natural variant981A → V. Ref.5 Ref.20 Ref.21
Corresponds to variant rs1800574 [ dbSNP | Ensembl ].
VAR_010540
Natural variant1071L → R in MODY3. Ref.12
VAR_010541
Natural variant1171K → E in MODY3. Ref.29
VAR_010542
Natural variant1221Y → C in MODY3. Ref.22
VAR_003756
Natural variant1271N → Y in a hepatocellular carcinoma sample; somatic mutation. Ref.35
VAR_033088
Natural variant1281I → N in MODY3. Ref.19
VAR_010543
Natural variant1291P → T in MODY3. Ref.18
VAR_010544
Natural variant1311R → Q in MODY3; expected to interfere with DNA binding. Ref.13 Ref.17
VAR_010545
Natural variant1311R → W in MODY3; expected to interfere with DNA binding. Ref.12 Ref.18
VAR_010546
Natural variant1331V → M in MODY3.
VAR_010547
Natural variant1421S → F in MODY3; reduces transcription activation by about 80%. Ref.10 Ref.22
VAR_003757
Natural variant1431H → Y in MODY3; expected to interfere with DNA binding. Ref.19 Ref.29
VAR_010548
Natural variant1581K → N in MODY3; expected to interfere with DNA binding. Ref.28
VAR_010549
Natural variant1591R → Q in MODY3. Ref.22 Ref.28
VAR_003758
Natural variant1591R → W in MODY3. Ref.18 Ref.24
VAR_010550
Natural variant1611A → T in MODY3. Ref.24
VAR_010551
Natural variant1651W → C in a hepatocellular carcinoma sample; somatic mutation. Ref.35
VAR_033089
Natural variant1911G → D in late-onset NIDDM. Ref.13
VAR_010552
Natural variant2001R → W in MODY3; expected to interfere with nuclear localization. Ref.24
VAR_063069
Natural variant2031R → C in MODY3; expected to interfere with nuclear localization and DNA binding. Ref.28
VAR_010554
Natural variant2031R → H in MODY3; expected to interfere with nuclear localization and DNA binding. Ref.31
VAR_012484
Natural variant2051K → Q in MODY3; reduces transcription activation by about 50%. Ref.10 Ref.13
VAR_010555
Natural variant2061W → C in a hepatic adenoma sample; somatic mutation; expected to interfere with DNA binding. Ref.35
VAR_033090
Natural variant2061W → L in a hepatic adenoma sample; somatic mutation; expected to interfere with DNA binding. Ref.35
VAR_033091
Natural variant2291R → Q in MODY3. Ref.17
VAR_010556
Natural variant2371N → S in a hepatic multiple adenoma sample; somatic mutation. Ref.35
VAR_033092
Natural variant2411C → G in IDDM20 and MODY3. Ref.17 Ref.25
VAR_010557
Natural variant2441R → G in a hepatic adenoma sample; somatic mutation; expected to interfere with DNA binding. Ref.35
VAR_033093
Natural variant2501Q → P in a hepatocellular carcinoma sample; somatic mutation. Ref.35
VAR_033094
Natural variant2541L → M in late-onset NIDDM; low penetrance; unknown pathological significance. Ref.14
VAR_010558
Natural variant2591V → D in MODY3.
VAR_010559
Natural variant2601T → M in MODY3. Ref.12
VAR_010560
Natural variant2631R → C in MODY3; expected to interfere with DNA binding. Ref.13
VAR_010561
Natural variant2681F → C in a hepatic adenoma sample; somatic mutation. Ref.35
VAR_033095
Natural variant2711R → W in MODY3. Ref.24
VAR_010562
Natural variant2721R → C in NIDDM. Ref.30
VAR_010563
Natural variant2721R → H in IDDM20 and MODY3. Ref.12 Ref.15 Ref.17
VAR_003759
Natural variant2731K → E in a hepatic adenoma sample; somatic mutation. Ref.35 Ref.36
VAR_033096
Natural variant3191G → S Strong association with NIDDM susceptibility; unique to the Canadian Oji-Cree population. Ref.33
VAR_010564
Natural variant4151G → R in IDDM20; loss of function. Ref.30
VAR_010565
Natural variant4321S → C in MODY3. Ref.31
VAR_012485
Natural variant4471P → L in MODY3. Ref.3 Ref.19
VAR_003760
Natural variant4871S → N. Ref.5 Ref.14 Ref.20 Ref.21 Ref.23 Ref.27
Corresponds to variant rs2464196 [ dbSNP | Ensembl ].
VAR_007906
Natural variant5141H → R. Ref.23
VAR_010566
Natural variant5191P → L in MODY3. Ref.18
VAR_010567
Natural variant5371T → R in MODY3; incomplete penetrance. Ref.26
VAR_010568
Natural variant5741G → S in a black African with an atypical form of diabetes; also in an individual with hepatic adenoma and familial early-onset diabetes. Ref.5 Ref.16 Ref.35
Corresponds to variant rs1169305 [ dbSNP | Ensembl ].
VAR_010569
Natural variant5831R → G in IDDM20. Ref.15
VAR_003761
Natural variant5831R → Q in late-onset NIDDM; also in an individual with hepatic hyperplasia and familial early-onset diabetes. Ref.21 Ref.35
VAR_010570
Natural variant5941S → I in MODY3.
VAR_010571
Natural variant6181I → M in MODY3. Ref.31
VAR_012486
Natural variant6191E → K in MODY3. Ref.26
VAR_010572
Natural variant6201T → I in MODY3; incomplete penetrance. Ref.18 Ref.32
VAR_010573

Experimental info

Mutagenesis1271N → W: Abolishes transcription activation. Ref.10
Mutagenesis1321E → K: Abolishes transcription activation. Ref.10
Mutagenesis1771F → S: No significant effect on transcription activation. Ref.10
Mutagenesis1861I → Q: No effect on transcription activation. Ref.10
Mutagenesis1901T → Q: No effect on transcription activation. Ref.10
Mutagenesis2021N → D: Reduces transcription activation by 70%. Ref.10
Mutagenesis2461V → D: Reduces transcription activation by 75%. Ref.10
Mutagenesis2571N → W: Reduces transcription activation by 70%. Ref.10
Isoform 7:
Sequence conflict5511L → S in ADK56177. Ref.5

Secondary structure

.......................... 631
Helix Strand Turn

Details...

Sequences

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

Last modified August 16, 2004. Version 2.
Checksum: 8327CD4FDC39254A

FASTA63167,356
        10         20         30         40         50         60 
MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC GGGRGELAEL 

        70         80         90        100        110        120 
PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ KAVVETLLQE DPWRVAKMVK 

       130        140        150        160        170        180 
SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA 

       190        200        210        220        230        240 
GQGGLIEEPT GDELPTKKGR RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE 

       250        260        270        280        290        300 
CIQRGVSPSQ AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP 

       310        320        330        340        350        360 
AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ VSPTGLEPSH 

       370        380        390        400        410        420 
SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP QNLIMASLPG VMTIGPGEPA 

       430        440        450        460        470        480 
SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV 

       490        500        510        520        530        540 
QSHVTQSPFM ATMAQLQSPH ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK 

       550        560        570        580        590        600 
QVFTSDTEAS SESGLHTPAS QATTLHVPSQ DPAGIQHLQP AHRLSASPTV SSSSLVLYQS 

       610        620        630 
SDSSNGQSHL LPSNHSVIET FISTQMASSS Q 

« Hide

Isoform B [UniParc].

Checksum: E9BD79E885C2E3C0
Show »

FASTA57261,112
Isoform C [UniParc].

Checksum: F6855702DE665780
Show »

FASTA52455,930
Isoform 4 [UniParc].

Checksum: 1AB561D8993D268F
Show »

FASTA27830,407
Isoform 5 [UniParc].

Checksum: 65A8988847FC27DF
Show »

FASTA24727,519
Isoform 6 [UniParc].

Checksum: 5D22409F773364C6
Show »

FASTA40343,469
Isoform 7 (insIVS8) [UniParc].

Checksum: FCCE6C78F8F6676F
Show »

FASTA66270,661
Isoform 8 (delta 2) [UniParc].

Checksum: 136DC46C438C5BC9
Show »

FASTA11912,491

References

« Hide 'large scale' references
[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]"Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)."
Yamagata K., Oda N., Kaisaki P.J., Menzel S., Furuta H., Vaxillaire M., Southam L., Cox R.D., Lathrop G.M., Boriraj V.V., Chen X., Cox N.J., Oda Y., Yano H., le Beau M.M., Yamada S., Nishigori H., Takeda J. expand/collapse author list , Fajans S.S., Hattersley A.T., Iwasaki N., Hansen T., Pedersen O., Polonsky K.S., Turner R.C., Velho G., Chevre J.-C., Froguel P., Bell G.I.
Nature 384:455-458(1996) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Novel mutations and a mutational hotspot in the MODY3 gene."
Glucksmann M.A., Lehto M., Tayber O., Scotti S., Berkemeier L., Pulido J.C., Wu Y., Nir W.-J., Fang L., Markel P., Munnelly K.D., Goranson J., Orho M., Young B.M., Whitacre J.L., McMenimen C., Wantman M., Tuomi T. expand/collapse author list , Warram J., Forsblom C.M., Carlsson M., Rosenzweig J., Kennedy G., Duyk G.M., Krolewski A.S., Groop L.C., Thomas J.D.
Diabetes 46:1081-1086(1997) [PubMed] [Europe PMC] [Abstract]
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]"Mutation screening in 18 Caucasian families suggest the existence of other MODY genes."
Chevre J.-C., Hani E.H., Boutin P., Vaxillaire M., Blanche H., Vionnet N., Pardini V.C., Timsit J., Larger E., Charpentier G., Beckers D., Maes M., Bellanne-Chantelot C., Velho G., Froguel P.
Diabetologia 41:1017-1023(1998) [PubMed] [Europe PMC] [Abstract]
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]"Bi-allelic inactivation of TCF1 in hepatic adenomas."
Bluteau O., Jeannot E., Bioulac-Sage P., Marques J.M., Blanc J.-F., Bui H., Beaudoin J.-C., Franco D., Balabaud C., Laurent-Puig P., Zucman-Rossi J.
Nat. Genet. 32:312-315(2002) [PubMed] [Europe PMC] [Abstract]
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-273.
+Additional computationally mapped references.

Web resources

GeneReviews
Wikipedia

Hepatocyte nuclear factors entry

SeattleSNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M57732 mRNA. Translation: AAA88077.1.
X71346 mRNA. Translation: CAB59201.1.
U72618 expand/collapse EMBL AC list , 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.
PIRA36749.
RefSeqNP_000536.5. NM_000545.5.
UniGeneHs.654455.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1IC8X-ray2.60A/B85-278[»]
2GYPX-ray1.40A/B2-32[»]
ProteinModelPortalP20823.
SMRP20823. Positions 2-31, 85-286.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112789. 37 interactions.
DIPDIP-33544N.
IntActP20823. 8 interactions.
STRING9606.ENSP00000257555.

PTM databases

PhosphoSiteP20823.

Polymorphism databases

DMDM51338763.

Proteomic databases

PaxDbP20823.
PRIDEP20823.

Protocols and materials databases

DNASU6927.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000538646; ENSP00000443964; ENSG00000135100. [P20823-4]
ENST00000540108; ENSP00000445445; ENSG00000135100.
ENST00000541395; ENSP00000443112; ENSG00000135100.
ENST00000541924; ENSP00000440361; ENSG00000135100. [P20823-5]
ENST00000543427; ENSP00000439721; ENSG00000135100. [P20823-6]
GeneID6927.
KEGGhsa:6927.
UCSCuc001tze.2. human. [P20823-3]
uc001tzf.3. human. [P20823-2]
uc001tzg.3. human. [P20823-1]

Organism-specific databases

CTD6927.
GeneCardsGC12P121416.
H-InvDBHIX0036847.
HGNCHGNC:11621. HNF1A.
HPACAB010430.
HPA035231.
MIM142330. phenotype.
142410. gene.
600496. phenotype.
606391. phenotype.
612520. phenotype.
neXtProtNX_P20823.
Orphanet324575. Hyperinsulinism due to HNF1A deficiency.
552. MODY syndrome.
PharmGKBPA36380.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG79356.
HOGENOMHOG000015305.
HOVERGENHBG005980.
InParanoidP20823.
KOK08036.
OrthoDBEOG769ZJ9.
PhylomeDBP20823.
TreeFamTF320327.

Enzyme and pathway databases

SignaLinkP20823.

Gene expression databases

ArrayExpressP20823.
BgeeP20823.
CleanExHS_HNF1A.
GenevestigatorP20823.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProIPR006899. 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]
PfamPF04814. HNF-1_N. 1 hit.
PF04813. HNF-1A_C. 1 hit.
PF04812. HNF-1B_C. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF100957. SSF100957. 1 hit.
SSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP20823.
GeneWikiHNF1A.
GenomeRNAi6927.
NextBio27105.
PROP20823.
SOURCESearch...

Entry information

Entry nameHNF1A_HUMAN
AccessionPrimary (citable) accession number: P20823
Secondary accession number(s): A5Z2R8 expand/collapse secondary AC list , E0YMJ5, E0YMK0, E0YMK1, E2I9R4, E2I9R5, F5H5U3, Q2M3H2, Q99861
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: August 16, 2004
Last modified: April 16, 2014
This is version 178 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM