HNF1A (HNF1 homeobox A)

2003-02-01  

Identity

HGNC
HNF1A
LOCATION
12q24.31
LOCUSID
6927
ALIAS
HNF-1A,HNF1,HNF1alpha,HNF4A,IDDM20,LFB1,MODY3,TCF-1,TCF1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6927
MIM: 142410
HGNC: 11621
Ensembl: ENSG00000135100

Variants:

dbSNP: 6927
ClinVar: 6927
TCGA: ENSG00000135100
COSMIC: HNF1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135100ENST00000257555A0A0A0MQU7
ENSG00000135100ENST00000400024U3KQS6
ENSG00000135100ENST00000538646P20823
ENSG00000135100ENST00000540108P20823
ENSG00000135100ENST00000541395A0A0A0MTK8
ENSG00000135100ENST00000541924P20823
ENSG00000135100ENST00000543427E0YMI9
ENSG00000135100ENST00000544413F5H0K0
ENSG00000135100ENST00000544574F5H3Z5
ENSG00000135100ENST00000560968H0YND5
ENSG00000135100ENST00000615446E0YMJ1
ENSG00000135100ENST00000617366A0A087WYP0

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Maturity onset diabetes of the youngKEGGko04950
Maturity onset diabetes of the youngKEGGhsa04950
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in beta cellsREACTOMER-HSA-210745

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA24684AKT1GenePathwayassociated
PA452618opioidsChemicalMultilinkAnnotationassociated26233334

References

Pubmed IDYearTitleCitations
384940662024HNF1A induces glioblastoma by upregulating EPS8 and activating PI3K/AKT signaling pathway.0
386321032024Effect of mutation at c.493T>C locus of transcription factor HNF1α gene on its protein level.0
388558652024Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.0
388796002024Tripartite motif 8 promotes the progression of hepatocellular carcinoma via mediating ubiquitination of HNF1α.0
384940662024HNF1A induces glioblastoma by upregulating EPS8 and activating PI3K/AKT signaling pathway.0
386321032024Effect of mutation at c.493T>C locus of transcription factor HNF1α gene on its protein level.0
388558652024Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.0
388796002024Tripartite motif 8 promotes the progression of hepatocellular carcinoma via mediating ubiquitination of HNF1α.0
359440952023HNF1A regulates the crosstalk between innate immune responses and MAFLD by mediating autophagic degradation of TBK1.3
362168892023The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.0
363317082023HNF1α upregulation and promoter hypermethylation as a cause of glucose dysregulation: a case-control study of Kashmiri MODY population.0
363806872023YTHDF3 mediates HNF1α regulation of cervical cancer radio-resistance by promoting RAD51D translation in an m6A-dependent manner.9
371378942023HNF1A binds and regulates the expression of SLC51B to facilitate the uptake of estrone sulfate in human renal proximal tubule epithelial cells.2
372199422023High-fat diet plus HNF1A variant promotes polyps by activating β-catenin in early-onset colorectal cancer.3
373961882023Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine.0

Citation

Dessen P

HNF1A (HNF1 homeobox A)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/470/img/cancer-prone-explorer/humanGenome