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FLASH GENE

Symbol

HIVEP1

contributors: mct/npt/pgu - updated : 12-05-2013

HGNC name	human immunodeficiency virus type I enhancer binding protein 1
HGNC id	4920

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6p24.1      Physical location : 12.012.723 - 12.165.231
Synonym name	zinc finger protein 40
	Schnurri-1
	cirhin interaction protein
	major histocompatibility complex binding protein 1
	gate keeper of apoptosis-activating protein
Synonym symbol(s)	ZNF40, MBP1, ZAS2, CIRIP, PERDII-BF1, MBP-1, CRYBP1, ZNF40A, ZAS1, HIV-EP1, GAAP

DNA

TYPE	functioning gene
STRUCTURE	152.51 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D6S1446 - D6S1034 - D6S1279 - HIVEP1 - D6S961 - D6S1721 - D6S1077 - D6S1491 - D6S1593 - D6S443 - D6S1578 - D6S429 - D6S259 - CD83 - D6S289 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002114 9 - 8891 NP_002105 - 2718 - 2010 20226436

EXPRESSION

Type

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         Nervous brain         Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte Blood/Hematopoietic platelet Cardiovascular endothelial cell Lymphoid/Immune B cell Lymphoid/Immune macrophage

cell lineage
cell lines	retinal cell lines, Hela cells
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two sets of two zinc fingers being widely separated
	a fifth zinc finger in-between (C2H2 type, Krüppel-like)
	ZAS1 and ZAS2 motifs
	eight T/SPRX/K motifs

HOMOLOGY

interspecies	ortholog to murine Hivep1
	homolog to Drosophila shn
	homolog to C.elegans R11A8.7B

intraspecies

paralog to HIVEP2,HIVEP3

Homologene

FAMILY

Schnurri protein family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome
	intracellular,nucleus,nucleolus
text	nucleolar protein

basic FUNCTION	involved in transcriptional activation and repressing C-myc transcription
	inducing mitochondrial involvement in the apoptotic process
	participates in the transcriptional regulation of inflammatory target genes by binding specific DNA sequences in their promoter and enhancer regions
	directly participate in the transcriptional regulation of a variety of genes by binding to their promoter NF-KB consensus sequences
	unique and redundant functions reside in the Schnurri protein family that are required for proper skeletal patterning and remodeling

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

text	transcriptional activator

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to enhancer MHC sequence
	binding to a positive regulating domain of the IFN-beta promoter
	binding to 5'-GGGACTTTCC-3' sequence which is found in the enhancer elements of numerous viral promoters such as those of SV40,CMV or HIV1

RNA

small molecule	metal binding,
	Zn2+

protein	binding to MHC,positive regulatory domain II (HIV - EP1/MBP1/PRDII - BF1)
	HIVEP1-CIRH1A interaction (CIRH1A up-regulates a canonical NF-kappaB element through strong interaction with HIVEP1)
	TRAPPC2 interact with HIVEP1, a repressor of the MYC promoter (pMID: 24098805)

cell & other

REGULATION

induced by

mitogen,serum,virus and phorbol ester

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to venous thrombosis

Variant & Polymorphism other	rs169713C allele associated with an increased risk for venous thrombosis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS