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FLASH GENE

Symbol

HNF1B

contributors: mct/npt/pgu - updated : 20-04-2010

HGNC name	HNF1 homeobox B
HGNC id	11630

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	58.66 kb     9 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000458 9 splicing 2842 NP_000449 61.32 557 liver 1991 1677179 stimulating transcriptional activation of target promoters also called TCF2A NM_001165923 - splicing 2773 NP_001159395 - 531 liver, pancreas 1991 1677179 inhibitting the transactivation activity of HNF1A also called TCF2B

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly Endocrine pancreas islet of Langerhans         parathyroid       highly Nervous brain       lowly Reproductive male system prostate     lowly Urinary kidney nephron renal capsule   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	kidney development, expression is common in mesonephric duct derivatives and metanephros (permanent kidneys)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal dimerization motif
	a pseudo POU-domain
	an homeodomain and a transactivation domain
	a C-terminal QSP-rich domain

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies	homolog to rattus Tcf2 (97.13 pc)
	homolog to murine Hnf1b (95.50 pc)

Homologene

FAMILY

HNF1 homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleolus

basic FUNCTION	activating or inhibiting transcription of target genes depending on the TCF2 isoform
	having transcription factor activity, liver-specific
	regulating peptidase dipeptidyl IV (DPP4) - down regulation in MODY5
	is a transcription factor that plays a role in kidney and pancreas development
	plays an important role in organogenesis, especially of the urogenital system
	essential for transcription of sodium-dependent vitamin C transporter protein 1 (SVCT1)
	may control gene expression via two distinct mechanisms, the maintenance of active transcription from its target promoters and the control of gene expression (concerns the reprogramming of transcription by counterbalancing the silencing effect induced by mitotic chromatin condensation)
	bookmarking factor that is necessary for reopening the chromatin of target genes after mitotic silencing
	playing an unique role in the regulation of cAMP signaling
	novel role of HNF1B as a modifier of the PAX2 haplo-insufficient phenotype and these two transcription factors operate in common pathways governing both kidney morphogenesis and ureter differentiation
	NUDT11, SLC22A3, HNF1b contribute to prostate cancer pathogenesis
	transcription factor known to be involved in ureteric bud branching and initiation of nephrogenesis, has an additional role in segment fate acquisition
	required for the acquisition of a proximo-intermediate segment fate, thus uncovering a previously unappreciated function of a novel regionalised S-shaped body (SSB) subcompartment in global nephron segmentation and further differentiation

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

homodimerizing or heterodimerizing with HNF1A

INTERACTION

DNA	binding to the inverted palindrome 5'-GTTAATNATTAAC-3'

RNA

small molecule

protein	inhibiting PKHD1, to produce kidney cysts
	target of dipeptidyl peptidase 4 (DPP4), angiotensin converting enzyme 2 (ACE2) and osteopontin (SPP1)
	interacting with SLC23A1(HNF-1alpha and/or HNF-1beta binding is required for its expression and may be involved in the coordinate regulation of whole body vitamin C status)
	PDE4C is a potential HNF1B target gene (HNF1B directly regulates PDE4C gene transcription)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RCAD , MODY5 , DEL17Q12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in chromophobe renal cell cancer through PKHD1 expression control tumoral     --over   in clear cell carcinoma of the ovary constitutional   deletion     leading to haploinsufficiency and affecting a diverse spectrum of CAKUT (congenital anomalies of the kidney and urinary tract)

Susceptibility

to prostate cancer

Variant & Polymorphism SNP	two independent prostate cancer risk loci

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

heterozygous mice for Hnf1b and Pax2 null alleles display phenotypes similar to severe congenital anomalies of the kidney and the urinary tract (CAKUT), including strong hypoplasia of the kidneys, caudal ectopic aborted ureter buds, duplex kidneys, megaureters and hydronephrosis