HNF1B

HNF1B
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	2DA6, 2H8R
Dynodwyr
Cyfenwau	HNF1B, FJHN, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, TCF-2, TCF2, VHNF1, HNF-1-beta, HNF1 homeobox B, T2D, ADTKD3, RCAD
Dynodwyr allanol	OMIM: 189907 HomoloGene: 396 GeneCards: HNF1B
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• DNA binding; • sequence-specific DNA binding; • protein homodimerization activity; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • GO:0001948, GO:0016582 protein binding; • protein heterodimerization activity; • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; • RNA polymerase II transcription regulatory region sequence-specific DNA binding; • GO:0001158 cis-regulatory region sequence-specific DNA binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific; • GO:0032403 protein-containing complex binding;
Cydrannau o'r gell	• transcription regulator complex; • nucleoplasm; • cnewyllyn cell;
Prosesau biolegol	• Notch signaling pathway; • pronephros development; • mesonephric tubule development; • endoderm development; • GO:0009373 regulation of transcription, DNA-templated; • GO:1904578 response to organic cyclic compound; • mesonephric duct development; • endodermal cell fate specification; • kidney development; • mesonephric duct formation; • ureteric bud elongation; • protein-DNA complex assembly; • negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis; • hindbrain development; • hepatocyte differentiation; • epithelial cell proliferation; • insulin secretion; • negative regulation of apoptotic process; • GO:1901227 negative regulation of transcription by RNA polymerase II; • response to glucose; • positive regulation of transcription initiation from RNA polymerase II promoter; • nephric duct formation; • circadian regulation of gene expression; • transcription, DNA-templated; • regulation of branch elongation involved in ureteric bud branching; • negative regulation of mesenchymal cell apoptotic process involved in metanephros development; • epithelium development; • nephric duct development; • genitalia development; • pronephric nephron tubule development; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • hepatoblast differentiation; • regulation of Wnt signaling pathway; • GO:1901313 positive regulation of gene expression; • inner cell mass cell differentiation; • embryonic morphogenesis; • kidney morphogenesis; • embryonic digestive tract morphogenesis; • liver development; • regulation of endodermal cell fate specification; • branching morphogenesis of an epithelial tube; • response to carbohydrate; • regulation of pronephros size; • anterior/posterior pattern specification; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • endocrine pancreas development; • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II; • pancreas development;
	Sources:Amigo / QuickGO
Orthologau
	6928
	n/a
	ENSG00000276194; ENSG00000275410
	n/a
	P35680
	n/a
	NM_000458; NM_001165923; NM_001304286; NM_006481
	n/a
	NP_000449; NP_001159395; NP_001291215; NP_001159395.1
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn HNF1B yw HNF1B a elwir hefyd yn HNF1 homeobox B a HNF1 beta A splice variant 3 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 17, band 17q12.^[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn HNF1B.

FJHN
HNF2
LFB3
TCF2
HPC11
LF-B3
MODY5
TCF-2
VHNF1
HNF-1B
HNF1beta
HNF-1-beta

Llyfryddiaeth

"Intellectual disability in patients with MODY due to hepatocyte nuclear factor 1B (HNF1B) molecular defects. ". Diabetes Metab. 2017. PMID 27838256.
"Structural and calorimetric studies demonstrate that the hepatocyte nuclear factor 1β (HNF1β) transcription factor is imported into the nucleus via a monopartite NLS sequence. ". J Struct Biol. 2016. PMID 27346421.
"Biliary Anomalies in Patients With HNF1B Diabetes. ". J Clin Endocrinol Metab. 2017. PMID 28324003.
"Genetic risk factors for ovarian cancer and their role for endometriosis risk. ". Gynecol Oncol. 2017. PMID 28214017.
17q12 Recurrent Deletion Syndrome. 1993. PMID 27929632.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] HNF1B - Cronfa NCBI

[1]

[2]