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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HNF1A Gene

protein-coding GIFtS: 60
GCID: GC12P121416

HNF1 homeobox A

(Previous names: transcription factor 1, hepatic; LF-B1, hepatic nuclear...)
(Previous symbols: MODY3, TCF1)

Explore 76 diseases affiliated with
HNF1A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
HNF1 Homeobox A¹ ²		IDDM20² ⁵
TCF1¹ ² ³ ⁵		Transcription Factor 1, Hepatic; LF-B1, Hepatic Nuclear Factor (HNF1), Albumin Proximal Factor¹
LFB1¹ ² ³		Albumin Proximal Factor²
MODY3¹ ² ⁵		Hepatic Nuclear Factor 1²
HNF1¹ ²		Hepatocyte Nuclear Factor 1-Alpha²
Liver-Specific Transcription Factor LF-B1² ³		Interferon Production Regulator Factor²
HNF-1-Alpha¹		Transcription Factor 1, Hepatic²
HNF-1A² ³		Transcription Factor 1³
TCF-1² ³

External Ids:	HGNC: 11621¹	Entrez Gene: 6927²	Ensembl: ENSG00000135100⁷	OMIM: 142410⁵	UniProtKB: P20823³

Export aliases for HNF1A gene to outside databases

Previous GC identifers: GC12P119900 GC12P118425

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HNF1A:

The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes.

The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this

gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of

hepatic adenomas. (provided by RefSeq, Mar 2009)

UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823

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'

Gene Wiki entry for HNF1A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009775.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HNF1A gene promoter:
Sp1 p53 NF-kappaB HNF-1A C/EBPalpha YY1 HNF-1 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HNF1A promoter sequence

Search SABiosciences Chromatin IP Primers for HNF1A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HNF1A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.2 Ensembl cytogenetic band: 12q24.31 HGNC cytogenetic band: 12q24.31

HNF1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HNF1A gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P121416: view genomic region (about GC identifiers)

Start:	121,416,346 bp from pter	End:	121,442,296 bp from pter
Size:	25,951 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823 (See protein sequence)

Recommended Name: Hepatocyte nuclear factor 1-alpha

Size: 631 amino acids; 67356 Da

Subunit: Binds DNA as a dimer. Interacts with PCBD1. Heterotetramer with PCBD1; formed by a dimer of dimers

Subcellular location: Nucleus

2 PDB 3D structures from and Proteopedia for HNF1A:

1IC8 (3D)

2GYP (3D)

Secondary accessions: A5Z2R8 Q2M3H2 Q99861

Alternative splicing: 3 isoforms: P20823-1 P20823-2 P20823-3

Explore the universe of human proteins at neXtProt for HNF1A: NX_P20823

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P20823

HNF1A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000536.5

ENSEMBL proteins:

ENSP00000257555 ENSP00000453965 ENSP00000438300 ENSP00000440361 ENSP00000443964

ENSP00000438565 ENSP00000443112 ENSP00000445445 ENSP00000438804 ENSP00000439721

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	Browse Proteins at Uscn

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001750	photoreceptor outer segment	IEA	--
GO:0005634	nucleus	IDA	15355349
GO:0005667	transcription factor complex	IEA	--
GO:0005737	cytoplasm	IDA	15355349
GO:0043234	protein complex	IDA	11980910

HNF1A for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HNF1A for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR010982 Lambda_DNA-bd_dom

IPR006898 HNF1a_C

IPR006899 HNF-1_N

IPR006897 HNF1b_C

IPR023219 HNF1_dimer_dom

Graphical View of Domain Structure for InterPro Entry P20823

ProtoNet protein and cluster: P20823

1 Blocks protein family: IPB006899 Hepatocyte nuclear factor 1

UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823

Similarity: Belongs to the HNF1 homeobox family

Similarity: Contains 1 homeobox DNA-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823

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'

		10/628 SABiosciences Target genes for HNF1A (see all 628):
		ABCC13 ABCG2 ACOT9 ACTL7A ACTL7B ACTL8 ACTR6 ADAMTS18 ADCY6 ADO

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		7 QIAGEN miScript miRNA Assays for microRNAs that regulate HNF1A:
		hsa-miR-34b* hsa-miR-548t hsa-miR-1266 hsa-miR-548n hsa-miR-1205 hsa-miR-3670 hsa-miR-449c
		SwitchGear 3'UTR luciferase reporter plasmid: HNF1A 3' UTR sequence

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HNF1A

Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	ISS	--
GO:0003677	DNA binding	IDA	10333057
GO:0003690	double-stranded DNA binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IDA	11980910
GO:0003704	specific RNA polymerase II transcription factor activity	--	--

HNF1A for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for HNF1A: Hnf1a^tm1.1Ylee Hnf1a^tm2Ylee
     15 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Hnf1a):

adipose tissue	behavior/neurological	cellular	digestive/alimentary	endocrine/exocrine gland
growth/size	homeostasis/metabolism	integument	liver/biliary system	mortality/aging
muscle	no phenotypic analysis	renal/urinary system	reproductive system	skeleton

HNF1A for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Dichloroethylene metabolism

Dichloroethylene metabolism

1.00

Dichloroethylene metabolism

1.00

Selected targets of HNF1

Selected targets of HNF1

1.00

IL-6 Signaling Pathway

IL-6 Signaling Pathway

1.00

Adipogenesis

Adipogenesis

1.00

FOXA2 and FOXA3 transcription factor networks

FOXA2 and FOXA3 transcription factor networks

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for HNF1A

	Dichloroethylene metabolism
	Selected targets of HNF1

1 GeneGo (Thomson Reuters) Pathway for HNF1A

Dichloroethylene metabolism

4 BioSystems Pathways for HNF1A

	Adipogenesis
	IL-6 Signaling Pathway
	Presenilin action in Notch and Wnt signaling
	FOXA2 and FOXA3 transcription factor networks

1 PharmGKB Pathway for HNF1A

Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for HNF1A):

Maturity onset diabetes of the young

HNF1A for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HNF1A

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/61 Interacting proteins for HNF1A (P20823^{1, 3} ENSP00000257555⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM3	P62158³, ENSP00000291295⁴	I2D: score=2 STRING: ENSP00000291295
CALM1	P62158³, ENSP00000349467⁴	I2D: score=2 STRING: ENSP00000349467
CALM2	P62158³	I2D: score=2
DYRK1B	Q9Y463¹^,³, ENSP00000312789⁴	EBI-636034,EBI-634187 I2D: score=2 STRING: ENSP00000312789
CREBBP	Q92793³, ENSP00000262367⁴	I2D: score=3 STRING: ENSP00000262367

About this table

Gene Ontology (GO): 5/36 biological process terms (GO ID links to tree view) (see all 36): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0001824	blastocyst development	IEA	--
GO:0001889	liver development	IEA	--
GO:0001890	placenta development	IEA	--
GO:0006338	chromatin remodeling	IEA	--

HNF1A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HNF1A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HNF1A

1 DrugBank Compound for HNF1A About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Norleucine	--	--	target	--	10592235

10/38 Novoseek chemical compound relationships for HNF1A gene (see all 38) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pcbd	76.3	3	11668623 (2)
tetrahydrobiopterin	55.4	5	10098606 (2), 7744010 (1), 11395380 (1), 8995521 (1)
nnmt	54.6	5	15486044 (1), 16676400 (1)
androstane	48.1	3	15858847 (1), 19480556 (1), 19228886 (1)
c-peptide	44.9	6	16602010 (1), 15569134 (1), 16834925 (1), 17426693 (1) (see all 6)
glucose	44.3	30	9806892 (2), 16602010 (1), 20031592 (1), 10331424 (1) (see all 22)
oltipraz	42.3	1	15155840 (1)
phenylalanine	41.6	7	8001680 (1), 9465044 (1), 11573942 (1), 10704830 (1)
tbhq	39.9	3	15155840 (1), 14998373 (1)
phosphoenolpyruvate	33.4	3	15468681 (1), 9276474 (1), 15311963 (1)

Search CenterWatch for drugs/clinical trials and news about HNF1A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HNF1A gene:

NM_000545.5

Unigene Cluster for HNF1A:

HNF1 homeobox A

Hs.654455 [show with all ESTs]

Unigene Representative Sequence: HM449088

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000257555(uc001tzg.3) ENST00000400024(uc001tzf.3) ENST00000560968

ENST00000535125 ENST00000402929(uc001tze.2) ENST00000541924 ENST00000538646

ENST00000544574(uc021rex.1) ENST00000535955(uc021rey.1) ENST00000538626(uc021rez.1)

ENST00000541395(uc010szn.2 uc021rfa.1 uc021rfc.1) ENST00000540108(uc021rfb.1)

ENST00000544413 ENST00000543255 ENST00000543427

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		7 QIAGEN miScript miRNA Assays for microRNAs that regulate HNF1A:
		hsa-miR-34b* hsa-miR-548t hsa-miR-1266 hsa-miR-548n hsa-miR-1205 hsa-miR-3670 hsa-miR-449c
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Additional cDNA sequence:

AK298422.1 BC104908.1 BC104910.1 BC143483.1 HM116541.1 HM116542.1 HM116543.1 HM116544.1

HM116545.1 HM116546.1 HM116547.1 HM116548.1 HM116549.1 HM116550.1 HM116551.1 HM116552.1

HM116557.1 HM116558.1 HM116559.1 HM116560.1 HM116561.1 HM116562.1 HM116563.1 HM449088.1

HM449089.1 M57732.1

1 DOTS entry:

DT.454865

17 AceView cDNA sequences:

NM_000545 BM854591 CR595845 BE348240 X71346 BQ018723 BQ643620 AL524668

M57732 BM741129 X71347 BX390180 AW294801 AA887705 BQ652046 BX117205

AL562376

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HNF1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

HNF1A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Foregut

Foregut Endoderm Cells

Endoderm

Liver

Pancreas

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

mK3 (Cell line)

Kidney

Endoderm progenitor-like cells (Generation and expan...)

beta-like cells (Derivation of beta c...)

Chondrocyte-like cells (Direct differentiati...)

Bone, Cartilage

Primitive Streak Mesendoderm cells (Direct differentiati...)

Mesoderm-like cells (Direct differentiati...)

Mesoderm

See HNF1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HNF1A

SOURCE GeneReport for Unigene cluster: Hs.654455

UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823

Tissue specificity: Liver

SABiosciences Expression via Pathway-Focused PCR Arrays including HNF1A:

Mesenchymal Stem Cell in human mouse rat

Transcription Factors in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for HNF1A gene from 3/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	HNF1A¹	HNF1 homeobox A	75.25(n) 79.68(a)	416967 XM_003642211.1 XP_003642259.1
African clawed frog (Xenopus laevis)	Amphibia	tcf1-A²	transcription factor 1, transcription factor LFB1 /HNF1	77.46(n)	X64759.1
zebrafish (Danio rerio)	Actinopterygii	hnf1a¹	HNF1 homeobox a	59.67(n) 58.2(a)	266961 NM_170764.1 NP_739570.1

ENSEMBL Gene Tree for HNF1A (if available)
TreeFam Gene Tree for HNF1A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HNF1A gene

HNF1B² HMBOX1²

4 SIMAP similar genes for HNF1A using alignment to 21 protein entries: HNF1A_HUMAN (see all proteins):

HNF1alpha HNF1B TCF2 HMBOX1

HNF1A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823

Polymorphism: The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and

insulin responses

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80051981^1,2	C,	non-pathogenic	121416917(+)	`CCCGTC/ACCCGC`	1	--	int¹		1		WA	118
rs1169288^1,2	C,F,A,H,	pathogenic	121416650(-)	`CTGGAG/TCAGTG`	2	I L	mis¹		23		MN NA EA NS CSA WA EU	7605
rs137853247^1,2	C,F,	pathogenic	121416663(+)	`ACTGGG/ATGAGC`	2	/D /G	mis¹		1		NA	4192
rs137853245^1,2	C	pathogenic	121432080(+)	`AGAAGA/C/GCTTCC`	3	D A G	mis¹		0	--	--	--	--
rs137853239^1,2	C	pathogenic	121437409(+)	`CCCACC/GGGCTC`	2	R G	mis¹		0	--	--	--	--
rs78772552^1,2	C,F,	probable-non-pathogenic	121416823(+)	`CCACCC/TATCCT`	2	P	syn¹		2		WA NA	3526
rs17847497^1,2	C,F,	probable-non-pathogenic	121434225(+)	`AGTGTC/GCTTGC`	1	--	int¹		1		EA	120
rs138996307^1,2	C,F	probable-non-pathogenic	121435290(+)	`TCCACG/ACAGGC`	2	/T	syn¹		1		NA	4462
rs150513055^1,2	C	probable-pathogenic	121426776(+)	`GAAGAC/TGCAGA`	2	T M	mis¹		1		NA	4552
rs140491072^1,2	C,F	probable-pathogenic	121434074(+)	`GCGCTA/GTGGAC`	2	Y C	mis¹		1		NA	4548

HapMap Linkage Disequilibrium report for HNF1A (121416346 - 121442296 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for HNF1A
1 CNV: 3899
Human Gene Mutation Database (HGMD): HNF1A

Locus Specific Mutation Databases (LSDB): HNF1A

5/8 SABiosciences Cancer Mutation PCR Assays for HNF1A (see all 8):

Cosmic Id	AA Change
21474	p.N237S
21485	p.Q250P
21484	p.W165C
21471	p.W206L
21477	p.K273E

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Liver Cancer

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HNF1A for disorders           About GeneDecksing

OMIM gene information: 142410
OMIM disorders: 600496  125853  222100  142330  144700  612520
UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823

Defects in HNF1A are a cause of hepatic adenomas familial (HEPAF) [MIM:142330]. Hepatic adenomas are 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=Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an

early step in the developmant of some hepatocellular carcinomas

Defects in HNF1A are the cause of maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]; also

symbolized MODY-3. MODY is 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

Defects in HNF1A are the cause of susceptibility to diabetes mellitus insulin-dependent type 20 (IDDM20)

[MIM:612520]. IDDM20 is a multifactorial disorder of glucose homeostasis that is characterized by susceptibility to

ketoacidosis in the absence of insulin therapy. Clinical fetaures are polydipsia, polyphagia and polyuria which result

from hyperglycemia-induced osmotic diuresis and secondary thirst. These features can result in long-term complications

that affect the eyes, kidneys, nerves, and blood vessels

20/76 diseases for HNF1A (see all 76): About MalaCards

maturity-onset diabetes of the young, type 3 maturity-onset diabetes of the young hepatitis diabetes mellitus, noninsulin-dependent

diabetes mellitus, insulin-dependent, 20 diabetes mellitus, noninsulin-dependent, 2 hepatic adenoma hereditary persistence of alpha-fetoprotein

adenoma struma ovarii diabetes mellitus retinol binding protein

glycogen storage disease non-small cell lung carcinoma adenomatous polyposis coli glomerulocystic kidney disease

familial adenomatous polyposis type 2 diabetes mellitus type 1 diabetes mellitus aminoaciduria

3 diseases from the University of Copenhagen DISEASES database for HNF1A:

maturity-onset diabetes of the young Diabetes mellitus Hyperglycemia

10/50 Novoseek disease relationships for HNF1A gene (see all 50) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
niddm	82.9	110	9133559 (3), 9840451 (2), 16186275 (2), 15001636 (2) (see all 82)
mody6	82.8	2	15387959 (1), 16409568 (1)
adenoma hepatocellular	68.3	13	17363580 (2), 20041408 (1), 17379603 (1), 17569132 (1) (see all 8)
adenoma liver	63.7	5	12355088 (1), 17535860 (1), 12730871 (1)
hyperglycemia	55.1	4	16444761 (1), 12453975 (1), 9539292 (1), 19794065 (1)
diabetes mellitus	48	13	9864503 (2), 11668618 (1), 12488960 (1), 12911009 (1) (see all 9)
insulinoma	47	8	1720308 (2), 18949455 (2), 8945471 (1), 10944108 (1) (see all 5)
glycogen storage disease	41.1	1	11121425 (1)
hepatoblastoma	38.1	5	8912143 (3), 7557430 (1), 16799619 (1)
aminoaciduria	35.6	2	11522670 (1), 15270800 (1)

Genetic Association Database (GAD): HNF1A
Human Genome Epidemiology (HuGE) Navigator: HNF1A (107 documents)

Export disorders for HNF1A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HNF1A gene, integrated from 9 sources (see all 653):
(articles sorted by number of sources associating them with HNF1A)

Utopia: connect your pdf to the dynamic
world of online information

Bi-allelic inactivation of TCF1 in hepatic adenomas. (PubMed id 12355088)^{1, 2, 9} Bluteau O....Zucman-Rossi J. (2002)
Chromosomal localization in man and rat of the genes encoding the liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1 (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of the hepatocyte growth factor/scatter factor gene (HGF). (PubMed id 1535333)^{1, 3, 9} Szpirer C....Szpirer J. (1992)
Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse. (PubMed id 1707031)^{1, 2, 9} Bach I.... Yaniv M. (1990)
Identification of mutations in the hepatocyte nuclear factor (HNF)-1- alpha gene in Japanese subjects with IDDM. (PubMed id 9313763)^{1, 2, 9} Yamada S....Takeda J. (1997)
More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing. (PubMed id 7900999)^{1, 2, 9} Bach I. and Yaniv M. (1993)
Novel mutations and a mutational hotspot in the MODY3 gene. (PubMed id 9166684)^{1, 2, 9} Glucksmann M.A....Thomas J.D. (1997)
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. (PubMed id 9621514)^{1, 2, 9} Nishigori H.... Takeda J. (1998)
Diabetes mellitus due to misfolding of a beta-cell transcription factor: stereospecific frustration of a Schellman motif in HNF-1alpha. (PubMed id 16930618)^{1, 2, 9} Narayana N....Weiss M.A. (2006)
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing. (PubMed id 10482964)^{1, 2, 9} Miedzybrodzka Z.... Haites N. (1999)
Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having type I diabetes. (PubMed id 9867222)^{1, 2, 9} Moeller A.M....Pedersen O. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6927	HGNC: 11621	AceView: TCF1	Ensembl:ENSG00000135100	euGenes: HUgn6927
ECgene: HNF1A	Kegg: 6927	H-InvDB: HNF1A

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HNF1A	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HNF1A
Wikipedia	http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors
SeattleSNPs	http://pga.gs.washington.edu/data/tcf1/

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HNF1 homeobox A

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BREAST CARCINOMA
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insulin sensitivity
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HNF1A Gene

HNF1 homeobox A

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