HIVEP1 human immunodeficiency virus type I enhancer binding protein 1 [Homo sapiens] - Gene

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Summary

Official Symbol: HIVEP1provided by HGNC
Official Full Name: human immunodeficiency virus type I enhancer binding protein 1provided by HGNC
Primary source: HGNC:4920
Locus tag: RP3-451B15.2
See related: Ensembl:ENSG00000095951; HPRD:01925; MIM:194540; Vega:OTTHUMG00000014265
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ZAS1; CIRIP; MBP-1; ZNF40; CRYBP1; ZNF40A; PRDII-BF1; Schnurri-1
Summary: This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]

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Genomic context

Location :: 6p24-p22.3

Sequence :: Chromosome: 6; NC_000006.11 (12012724..12165232)

See HIVEP1 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

HIVEP1 rs169713C allele was associated with venous thrombosis.
Title: A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	PRDII-BF1 activates HIV-1 gene expression and an antisense PRDII-BF1 construct inhibits Tat-induced HIV-1 gene expression, suggesting a role for PRDII-BF1 in enhancing Tat transactivation of the HIV-1 LTR promoter	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P15822	Q7Z2E3	APTX	HPRD	PubMed
P15822	P54253	ATXN1	HPRD	PubMed
P15822	Q92979	EMG1	HPRD	PubMed
P15822	P62820	RAB1A	HPRD	PubMed
P15822	P84022	SMAD3	HPRD	PubMed
P15822	P56693	SOX10	HPRD	PubMed
BioGRID:109343	BioGRID:114457	BTRC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109343	BioGRID:107227	CACNA1A	BioGRID	PubMed	Two-hybrid
BioGRID:109343	BioGRID:116887	FBXW11	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109343	BioGRID:109871	IRF5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109343	BioGRID:107819	MAPK14	BioGRID	PubMed	Two-hybrid
BioGRID:109343	BioGRID:111799	RAB1A	BioGRID	PubMed	Two-hybrid
BioGRID:109343	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
negative regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
intracellular	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: zinc finger protein 40

Names: zinc finger protein 40; GAAP; HIV-EP1; cirhin interaction protein; gate keeper of apoptosis-activating protein; positive regulatory domain II binding factor 1; positive regulatory domain II-binding factor 1; major histocompatibility complex binding protein 1; major histocompatibility complex-binding protein 1; human immunodeficiency virus type I enhancer-binding protein 1; Zinc finger protein 40 (Human immunodeficiency virus type I enhancer-binding protein 1) (HIV-EP1) (Major histocompatibility complex binding protein 1) (MBP-1) (Positive regulatory domain II binding factor 1) (PRDII-BF1)

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002114.2 → NP_002105.2 zinc finger protein 40

Status: VALIDATED

Source sequence(s)

AL137221, AL157373, AL391828, CA430819, X51435

Consensus CDS

CCDS43426.1

UniProtKB/Swiss-Prot

P15822

Related

ENSP00000368698, OTTHUMP00000016036, ENST00000379388, OTTHUMT00000039870

Conserved Domains (3) summary

pfam12756
Location:2116 – 2168
Blast Score: 93

zf-C2H2_2; C2H2 type zinc-finger (2 copies)

pfam13465
Location:2102 – 2127
Blast Score: 106

zf-H2C2_2; Zinc-finger double domain

pfam13912
Location:959 – 984
Blast Score: 92

zf-C2H2_6; C2H2-type zinc finger

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

12012724..12165232

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

11947241..12096869

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL137221.8	CAI14768.1
		CAI14769.1
genomic	AL157373.23	CAH73982.1
		CAH73983.1
genomic	AL391828.10	CAH73909.1
		CAH73910.1
genomic	CH471087.1	EAW55309.1
		EAW55310.1
		EAW55311.1
		EAW55312.1
genomic	Z98050.1	CAI21070.1
		CAI21071.1
mRNA	AK294338.1	BAG57608.1
mRNA	AY673640.1	AAV85766.1
mRNA	BC028111.2	None
mRNA	BC140816.1	AAI40817.1
mRNA	CA430819.1	None
mRNA	J05011.1	AAA17533.1
mRNA	M32019.1	AAA17534.1
mRNA	X51435.1	CAA35798.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P15822.3	GenPept	UniProtKB/Swiss-Prot:P15822
Q5VW59	GenPept	UniProtKB/TrEMBL:Q5VW59
Q82133	GenPept	UniProtKB/TrEMBL:Q82133