full name
HNF1 homeobox A

synonyms
HNF-1A, HNF1, IDDM20, LFB1, MODY3, TCF-1, TCF1, HNF1A, ENSG00000135100

HGNC
HGNC:11621

Entrez Gene
Gene:6927

ENSEMBL
ENSG00000135100

location
chr: 12
start: 121415861
stop: 121440315
strand: +

OMIM
OMIM:142410: HNF1A
OMIM:612520: Diabetes mellitus, insulin-dependent, 20
OMIM:142330: Hepatic adenoma, somatic
OMIM:600496: MODY, type III
OMIM:144700: Renal cell carcinoma
OMIM:222100: {Diabetes mellitus, insulin-dependent}
OMIM:125853: {Diabetes mellitus, noninsulin-dependent, 2}

transcripts
ENST00000541395.1

pathways
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
FOXA2 and FOXA3 transcription factor networks [NCBI:137911] [Pathway Interaction Database:hnf3bpathway] [PUBMED:14500912] [PUBMED:9632808] [PUBMED:8668179] [PUBMED:2786140] [PUBMED:10748140] [PUBMED:8662915] [PUBMED:12865419] [PUBMED:12145169] [PUBMED:15314688] [PUBMED:12911579] [PUBMED:15123725] [PUBMED:16098831] [PUBMED:10455192] [PUBMED:15616563] [PUBMED:7524494] [PUBMED:7565696] [PUBMED:15959514] [PUBMED:11278466] [PUBMED:9369482] [PUBMED:8813720]
Maturity onset diabetes of the young [NCBI:83096] [KEGG:hsa04950] [PUBMED:14614204] [PUBMED:15604203] [PUBMED:15028942] [PUBMED:15298336]
Presenilin action in Notch and Wnt signaling [NCBI:137914] [Pathway Interaction Database:ps1pathway] [PUBMED:10391247] [PUBMED:11921277] [PUBMED:11357136] [PUBMED:15620650] [PUBMED:11739397] [PUBMED:15747065] [PUBMED:10359821] [PUBMED:15327768] [PUBMED:12554650] [PUBMED:15292388] [PUBMED:11266469] [PUBMED:12794186] [PUBMED:10882062] [PUBMED:8923452] [PUBMED:12050670] [PUBMED:10201374] [PUBMED:12857724] [PUBMED:9171444]
Regulation of beta-cell development [NCBI:1270337] [REACTOME:R-HSA-186712] [PUBMED:15298336] [PUBMED:18094957] [PUBMED:11575290] [PUBMED:12591178]
Regulation of gene expression in beta cells [NCBI:1270341] [REACTOME:R-HSA-210745] [PUBMED:12591178] [PUBMED:15298336]
Signaling pathways regulating pluripotency of stem cells [NCBI:1026136] [KEGG:hsa04550] [PUBMED:20705693] [PUBMED:23653415] [PUBMED:16518401] [PUBMED:17211451] [PUBMED:22649650] [PUBMED:24910449] [PUBMED:19551525] [PUBMED:22298652] [PUBMED:23370346] [PUBMED:24315442] [PUBMED:18414030] [PUBMED:17647265] [PUBMED:18295576] [PUBMED:24957798] [PUBMED:24147644] [PUBMED:16153702] [PUBMED:19427042] [PUBMED:18220859] [PUBMED:19571885] [PUBMED:23585347]