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PHF10 PHD finger protein 10 [ Homo sapiens (human) ]

Gene ID: 55274, updated on 23-Nov-2021

Summary

Official Symbol
PHF10provided by HGNC
Official Full Name
PHD finger protein 10provided by HGNC
Primary source
HGNC:HGNC:18250
See related
Ensembl:ENSG00000130024 MIM:613069
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BAF45A; XAP135; SMARCG4
Summary
This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in adrenal (RPKM 31.1), ovary (RPKM 25.5) and 25 other tissues See more
Orthologs
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Genomic context

See PHF10 in Genome Data Viewer
Location:
6q27
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (169703902..169724500, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (170103998..170124596, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2519 Neighboring gene WD repeat domain 27 Neighboring gene chromosome 6 open reading frame 120 Neighboring gene dynein light chain Tctex-type 2 Neighboring gene ER membrane associated RNA degradation

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
GeneReviews: Not available
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10975, MGC111009

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of npBAF complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
PHD finger protein 10
Names
BRG1-associated factor 45a
BRG1-associated factor, 45-KD, A
PHD zinc finger protein XAP135

NCBI Reference Sequences (RefSeq)

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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_018288.4NP_060758.2  PHD finger protein 10 isoform a

    See identical proteins and their annotated locations for NP_060758.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform.
    Source sequence(s)
    AL513547, BC110323, DB460742
    Consensus CDS
    CCDS5308.2
    UniProtKB/Swiss-Prot
    Q8WUB8
    Related
    ENSP00000341805.4, ENST00000339209.9
    Conserved Domains (3) summary
    cd15528
    Location:379433
    PHD1_PHF10; PHD finger 1 found in PHD finger protein 10 (PHF10) and similar proteins
    cd15529
    Location:435478
    PHD2_PHF10; PHD finger 2 found in PHD finger protein 10 (PHF10) and similar proteins
    cd21085
    Location:73161
    WH_NTD_PHF10; N-terminal winged helix DNA-binding domain found in PHD finger protein 10 (PHF10) and similar proteins
  2. NM_133325.3NP_579866.2  PHD finger protein 10 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction which results in 6 fewer nt when compared to variant 1. It encodes an isoform (b) that lacks 2 internal amino acids compared to isoform a.
    Source sequence(s)
    AL513547
    Consensus CDS
    CCDS5309.2
    UniProtKB/Swiss-Prot
    Q8WUB8
    Related
    ENSP00000355743.4, ENST00000366780.8
    Conserved Domains (2) summary
    cd15528
    Location:377431
    PHD1_PHF10; PHD finger 1 found in PHD finger protein 10 (PHF10) and similar proteins
    cd15529
    Location:433476
    PHD2_PHF10; PHD finger 2 found in PHD finger protein 10 (PHF10) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    169703902..169724500 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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