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FLASH GENE

Symbol

HIF1AN

contributors: mct - updated : 08-09-2012

HGNC name	hypoxia-inducible factor 1, alpha subunit inhibitor
HGNC id	17113

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	18.04 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017902 8 - 6928 NP_060372 - 349 - -

EXPRESSION

Type	ubiquitous

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 Cardiovascular heart         Endocrine pancreas         Nervous brain basal nuclei striatum     Homo sapiens   brain basal nuclei putamen     Homo sapiens   brain forebrain cerebral cortex     Homo sapiens   brain diencephalon thalamus   highly Homo sapiens   brain hindbrain cerebellum     Homo sapiens   brain limbic system hippocampus   highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune macrophage Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	asparaginyl hydroxylase enzyme regulating the transcriptional activity of hypoxia-inducible factor
	regulates not only HIF activity, but also the NOTCH signaling output and, in addition, plays a role in how NOTCH signaling modulates the hypoxic response
	role as a modulator of the growth of human tumor cells
	its activity is essential for tumor growth through the suppression of the TP53-CDKN1A axis, the major barrier that prevents cancer progression

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

HIF1AN forms a complex with APBA3, and these two factors co-localize within the perinuclear region

INTERACTION

DNA

RNA

small molecule

protein	NOTCH is likely to become efficiently hydroxylated by HIF1AN even under relatively severe hypoxic conditions, where HIF1A hydroxylation would be reduced
	inhibits the activity of HIF1A by preventing HIF1alpha binding to EP300 via modification of the Asn(803) residue
	functions as a cytosol retention factor of BAX, blocking BAXtranslocation from cytosol to mitochondria in response to apoptotic stimuli
	is an UBE3A-interacting protein
	KDM8 participates in roles independent of histone demethylation and may function as a protein hydroxylase given its structural homology with HIF1AN and JMJD6

cell & other

REGULATION

Other

ubiquitinated by SIAH1

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         silencing of HIF1AN significantly increased both the total and phosphorylated forms of the tumor suppressor TP53, leading to an increase in its direct target CDKN1A tumoral     --other   expressed in the majority of invasive breast carcinomas and shows distinct subcellular localization patterns

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS