Bromodomain- and PHD Finger-Containing Protein

Alternative Names

  • BRPF1
  • Bromodomain-Containing Protein, 140-Kd
  • BR140
  • Peregrin
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OMIM Number

602410

NCBI Gene ID

7862

Uniprot ID

P55201

Length

16,281 bases

No. of Exons

17

No. of isoforms

4

Protein Name

Peregrin

Molecular Mass

137499 Da

Amino Acid Count

1214

Genomic Location

chr3:9,731,735-9,748,015

Gene Map Locus
3p25.3

Description

This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001003694.2:c.2600C>TSaudi ArabiaNC_000003.12:g.9743866C>TUncertain SignificanceIntellectual Developmental Disorder with Dysmorphic Facies and PtosisNG_052955.1:g.17138C>T; NM_001003694.2:c.2600C>T; NP_001003694.1:p.Ala867Val2471502793
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