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HNF1A (HNF1 homeobox A)

Identity

Other namesHNF-1A
HNF1
IDDM20
LFB1
MODY3
TCF-1
TCF1
HGNC (Hugo) HNF1A
LocusID (NCBI) 6927
Location 12q24.31
Location_base_pair Starts at 121416549 and ends at 121440314 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945

External links

Nomenclature
HGNC (Hugo)HNF1A   11621
Cards
Entrez_Gene (NCBI)HNF1A  6927  HNF1 homeobox A
GeneCards (Weizmann)HNF1A
Ensembl (Hinxton)ENSG00000135100 [Gene_View]  chr12:121416549-121440314 [Contig_View]  HNF1A [Vega]
ICGC DataPortalENSG00000135100
cBioPortalHNF1A
AceView (NCBI)HNF1A
Genatlas (Paris)HNF1A
WikiGenes6927
SOURCE (Princeton)NM_000545
Genomic and cartography
GoldenPath (UCSC)HNF1A  -  12q24.31   chr12:121416549-121440314 +  12q24.31   [Description]    (hg19-Feb_2009)
EnsemblHNF1A - 12q24.31 [CytoView]
Mapping of homologs : NCBIHNF1A [Mapview]
OMIM125853   142330   142410   144700   222100   600496   612520   
Gene and transcription
Genbank (Entrez)AK298422 AW294801 BC104908 BC104910 BC143483
RefSeq transcript (Entrez)NM_000545
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_011731 NT_029419 NW_001838063 NW_004929385
Consensus coding sequences : CCDS (NCBI)HNF1A
Cluster EST : UnigeneHs.654455 [ NCBI ]
CGAP (NCI)Hs.654455
Alternative Splicing : Fast-db (Paris)GSHG0007066
Alternative Splicing GalleryENSG00000135100
Gene ExpressionHNF1A [ NCBI-GEO ]     HNF1A [ SEEK ]   HNF1A [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20823 (Uniprot)
NextProtP20823  [Medical]
With graphics : InterProP20823
Splice isoforms : SwissVarP20823 (Swissvar)
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)HNF-1_N [organisation]   HNF1_dimer_dom [organisation]   HNF1a_C [organisation]   HNF1b_C [organisation]   Homeobox_dom [organisation]   Homeodomain-like [organisation]   Lambda_DNA-bd_dom [organisation]  
Related proteins : CluSTrP20823
Domain families : Pfam (Sanger)HNF-1_N (PF04814)    HNF-1A_C (PF04813)    HNF-1B_C (PF04812)    Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam04814    pfam04813    pfam04812    pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
DMDM Disease mutations6927
Blocks (Seattle)P20823
PDB (SRS)1IC8    2GYP   
PDB (PDBSum)1IC8    2GYP   
PDB (IMB)1IC8    2GYP   
PDB (RSDB)1IC8    2GYP   
Human Protein AtlasENSG00000135100 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP20823
HPRD00800
IPIIPI00025839   IPI00411416   IPI00219056   IPI01013668   IPI00971187   IPI01012243   IPI01009840   IPI01018182   IPI00979621   IPI01012412   IPI00981532   IPI00971064   IPI01013500   IPI00972971   IPI00972937   IPI01014756   
Protein Interaction databases
DIP (DOE-UCLA)P20823
IntAct (EBI)P20823
FunCoupENSG00000135100
BioGRIDHNF1A
InParanoidP20823
Interologous Interaction database P20823
IntegromeDBHNF1A
STRING (EMBL)HNF1A
Ontologies - Pathways
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  DNA binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleolus  cytoplasm  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  insulin secretion  regulation of pronephros size  renal glucose absorption  glucose homeostasis  protein homodimerization activity  protein complex  sequence-specific DNA binding  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  glucose import  protein heterodimerization activity  protein dimerization activity  positive regulation of transcription initiation from RNA polymerase II promoter  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  DNA binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleolus  cytoplasm  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  insulin secretion  regulation of pronephros size  renal glucose absorption  glucose homeostasis  protein homodimerization activity  protein complex  sequence-specific DNA binding  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  glucose import  protein heterodimerization activity  protein dimerization activity  positive regulation of transcription initiation from RNA polymerase II promoter  
Pathways : BIOCARTAGrowth Hormone Signaling Pathway [Genes]    WNT Signaling Pathway [Genes]    Presenilin action in Notch and Wnt signaling [Genes]    Segmentation Clock [Genes]    Role of MAL in Rho-Mediated Activation of SRF [Genes]    ALK in cardiac myocytes [Genes]   
Pathways : KEGGMaturity onset diabetes of the young   
Protein Interaction DatabaseHNF1A
Wikipedia pathwaysHNF1A
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)HNF1A
snp3D : Map Gene to Disease6927
SNP (GeneSNP Utah)HNF1A
SNP : HGBaseHNF1A
Genetic variants : HAPMAPHNF1A
Exome VariantHNF1A
1000_GenomesHNF1A 
ICGC programENSG00000135100 
Cancer Gene: CensusHNF1A 
Somatic Mutations in Cancer : COSMICHNF1A 
CONAN: Copy Number AnalysisHNF1A 
Mutations and Diseases : HGMDHNF1A
Mutations and Diseases : intOGenHNF1A
Genomic VariantsHNF1A  HNF1A [DGVbeta]
dbVarHNF1A
ClinVarHNF1A
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM125853    142330    142410    144700    222100    600496    612520   
MedgenHNF1A
GENETestsHNF1A
Disease Genetic AssociationHNF1A
Huge Navigator HNF1A [HugePedia]  HNF1A [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneHNF1A
Homology/Alignments : Family Browser (UCSC)HNF1A
Phylogenetic Trees/Animal Genes : TreeFamHNF1A
Chemical/Protein Interactions : CTD6927
Chemical/Pharm GKB GenePA36380
Clinical trialHNF1A
Cancer Resource (Charite)ENSG00000135100
Other databases
Probes
Litterature
PubMed347 Pubmed reference(s) in Entrez
CoreMineHNF1A
iHOPHNF1A
OncoSearchHNF1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:49:42 CEST 2014

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