HIVEP1 Chromosome 6
HIVEP zinc finger 1
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What This Gene Does
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]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
6p24.1
Ensembl
ENSG00000095951
Associated Conditions (1)
HIVEP1-related disorder
Key Variants
RS142530679
Conflicting classifications of pathogenicity
Health Risk
RS143238298
Conflicting classifications of pathogenicity
Health Risk
RS181056704
Conflicting classifications of pathogenicity
Health Risk
RS200796765
Conflicting classifications of pathogenicity
HIVEP1-related disorder, HIVEP1-related disorder
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142530679 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143238298 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS181056704 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200796765 | Health Risk | Conflicting classifications of pathogenicity | HIVEP1-related disorder, HIVEP1-related disorder |