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HIVEP1 human immunodeficiency virus type I enhancer binding protein 1 [ Homo sapiens (human) ]

Gene ID: 3096, updated on 7-Oct-2018

Summary

Official Symbol
HIVEP1provided by HGNC
Official Full Name
human immunodeficiency virus type I enhancer binding protein 1provided by HGNC
Primary source
HGNC:HGNC:4920
See related
Ensembl:ENSG00000095951 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
GAAP; 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]
Expression
Ubiquitous expression in gall bladder (RPKM 3.0), appendix (RPKM 2.9) and 25 other tissues See more
Orthologs

Genomic context

See HIVEP1 in Genome Data Viewer
Location:
6p24.1
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (12002096..12212034)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (12012724..12212270)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986570 Neighboring gene uncharacterized LOC101928253 Neighboring gene endothelin 1 Neighboring gene SUMO2 pseudogene 12

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.
NHGRI GWA Catalog
Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
NHGRI GWA Catalog

HIV-1 interactions

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 Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II distal enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
zinc finger protein 40
Names
cirhin interaction protein
gate keeper of apoptosis-activating protein
major histocompatibility complex binding protein 1
positive regulatory domain II binding factor 1

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)

  1. NM_002114.3NP_002105.3  zinc finger protein 40

    See identical proteins and their annotated locations for NP_002105.3

    Status: VALIDATED

    Source sequence(s)
    AA563642, AI033710, AL391828, BC140816
    Consensus CDS
    CCDS43426.1
    UniProtKB/Swiss-Prot
    P15822
    Related
    ENSP00000368698.2, OTTHUMP00000016036, ENST00000379388.6, OTTHUMT00000039870
    Conserved Domains (5) summary
    sd00017
    Location:408428
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20902110
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20882110
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21162181
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21022127
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    12002096..12212034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010801.1XP_016866290.1  zinc finger protein 40 isoform X1

    Conserved Domains (5) summary
    sd00017
    Location:417437
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20992119
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20972119
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21252190
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21112136
    zf-H2C2_2; Zinc-finger double domain
  2. XM_017010804.1XP_016866293.1  zinc finger protein 40 isoform X5

  3. XM_017010803.1XP_016866292.1  zinc finger protein 40 isoform X4

  4. XM_011514546.2XP_011512848.1  zinc finger protein 40 isoform X1

    See identical proteins and their annotated locations for XP_011512848.1

    Conserved Domains (5) summary
    sd00017
    Location:417437
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20992119
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20972119
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21252190
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21112136
    zf-H2C2_2; Zinc-finger double domain
  5. XM_011514548.2XP_011512850.1  zinc finger protein 40 isoform X1

    See identical proteins and their annotated locations for XP_011512850.1

    Conserved Domains (5) summary
    sd00017
    Location:417437
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20992119
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20972119
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21252190
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21112136
    zf-H2C2_2; Zinc-finger double domain
  6. XM_017010800.1XP_016866289.1  zinc finger protein 40 isoform X1

    Conserved Domains (5) summary
    sd00017
    Location:417437
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20992119
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20972119
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21252190
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21112136
    zf-H2C2_2; Zinc-finger double domain
  7. XM_011514551.2XP_011512853.1  zinc finger protein 40 isoform X2

    See identical proteins and their annotated locations for XP_011512853.1

    Conserved Domains (5) summary
    sd00017
    Location:408428
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20902110
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20882110
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21162181
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21022127
    zf-H2C2_2; Zinc-finger double domain
  8. XM_017010802.1XP_016866291.1  zinc finger protein 40 isoform X1

    Conserved Domains (5) summary
    sd00017
    Location:417437
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20992119
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20972119
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21252190
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21112136
    zf-H2C2_2; Zinc-finger double domain
  9. XM_011514547.2XP_011512849.1  zinc finger protein 40 isoform X1

    See identical proteins and their annotated locations for XP_011512849.1

    Conserved Domains (5) summary
    sd00017
    Location:417437
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20992119
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20972119
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21252190
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21112136
    zf-H2C2_2; Zinc-finger double domain
  10. XM_011514552.2XP_011512854.1  zinc finger protein 40 isoform X2

    See identical proteins and their annotated locations for XP_011512854.1

    Conserved Domains (5) summary
    sd00017
    Location:408428
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20902110
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20882110
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21162181
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21022127
    zf-H2C2_2; Zinc-finger double domain
  11. XM_011514549.3XP_011512851.1  zinc finger protein 40 isoform X1

    See identical proteins and their annotated locations for XP_011512851.1

    Conserved Domains (5) summary
    sd00017
    Location:417437
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20992119
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20972119
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21252190
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21112136
    zf-H2C2_2; Zinc-finger double domain
  12. XM_011514550.2XP_011512852.1  zinc finger protein 40 isoform X1

    See identical proteins and their annotated locations for XP_011512852.1

    Conserved Domains (5) summary
    sd00017
    Location:417437
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20992119
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20972119
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21252190
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21112136
    zf-H2C2_2; Zinc-finger double domain
  13. XM_011514553.1XP_011512855.1  zinc finger protein 40 isoform X2

    See identical proteins and their annotated locations for XP_011512855.1

    Conserved Domains (5) summary
    sd00017
    Location:408428
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20902110
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20882110
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21162181
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:21022127
    zf-H2C2_2; Zinc-finger double domain
  14. XM_011514555.3XP_011512857.1  zinc finger protein 40 isoform X3

    Conserved Domains (5) summary
    sd00017
    Location:397417
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:20792099
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:20772099
    zf-C2H2; Zinc finger, C2H2 type
    pfam12756
    Location:21052170
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
    pfam13465
    Location:20912116
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. XR_001743372.1 RNA Sequence

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