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PHF7 PHD finger protein 7 [ Homo sapiens (human) ]

Gene ID: 51533, updated on 5-Aug-2018

Summary

Official Symbol
PHF7provided by HGNC
Official Full Name
PHD finger protein 7provided by HGNC
Primary source
HGNC:HGNC:18458
See related
Ensembl:ENSG00000010318 Vega:OTTHUMG00000158495
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
HSPC045; HSPC226; NYD-SP6
Summary
Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Expression
Restricted expression toward testis (RPKM 610.5) See more
Orthologs

Genomic context

See PHF7 in Genome Data Viewer
Location:
3p21.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (52410508..52423641)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52444577..52457657)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene dynein axonemal heavy chain 1 Neighboring gene protein phosphatase 2 regulatory subunit B'gamma pseudogene Neighboring gene BRCA1 associated protein 1 Neighboring gene VISTA enhancer hs2179 Neighboring gene uncharacterized LOC105377091 Neighboring gene semaphorin 3G

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26088, DKFZp434L1850

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
PHD finger protein 7
Names
testicular secretory protein Li 34
testis development protein NYD-SP6

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_001278221.2NP_001265150.1  PHD finger protein 7 isoform 2

    See identical proteins and their annotated locations for NP_001265150.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AY014283, BC022002, BG704704, BG723964, BU853281
    Consensus CDS
    CCDS2855.1
    UniProtKB/Swiss-Prot
    Q9BWX1
    Related
    ENSP00000246282.4, OTTHUMP00000212989, ENST00000347025.6, OTTHUMT00000351157
    Conserved Domains (2) summary
    cd15669
    Location:33144
    ePHD_PHF7_G2E3_like; Extended PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
    cl22851
    Location:225261
    PHD_SF; PHD finger superfamily
  2. NM_001321126.1NP_001308055.1  PHD finger protein 7 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AK292221, AY014283, BC022002, BG704704
    Consensus CDS
    CCDS2854.1
    UniProtKB/Swiss-Prot
    Q9BWX1
    UniProtKB/TrEMBL
    A0A024R336, A8K856
    Related
    ENSP00000417712.1, OTTHUMP00000212993, ENST00000461861.5, OTTHUMT00000351164
    Conserved Domains (2) summary
    cd15496
    Location:247300
    PHD_PHF7_G2E3_like; PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
    cd15669
    Location:33144
    ePHD_PHF7_G2E3_like; Extended PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
  3. NM_001321127.1NP_001308056.1  PHD finger protein 7 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AK292221, AY014283, BC022002, BG704704, BQ669125
    Consensus CDS
    CCDS2854.1
    UniProtKB/Swiss-Prot
    Q9BWX1
    UniProtKB/TrEMBL
    A0A024R336, A8K856
    Conserved Domains (2) summary
    cd15496
    Location:247300
    PHD_PHF7_G2E3_like; PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
    cd15669
    Location:33144
    ePHD_PHF7_G2E3_like; Extended PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
  4. NM_016483.6NP_057567.3  PHD finger protein 7 isoform 1

    See identical proteins and their annotated locations for NP_057567.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AY014283, BC022002, BG704704
    Consensus CDS
    CCDS2854.1
    UniProtKB/Swiss-Prot
    Q9BWX1
    UniProtKB/TrEMBL
    A0A024R336
    Related
    ENSP00000333024.3, OTTHUMP00000212988, ENST00000327906.7, OTTHUMT00000351155
    Conserved Domains (2) summary
    cd15496
    Location:247300
    PHD_PHF7_G2E3_like; PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
    cd15669
    Location:33144
    ePHD_PHF7_G2E3_like; Extended PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)

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_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    52410508..52423641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453589.1XP_024309357.1  PHD finger protein 7 isoform X1

    Conserved Domains (2) summary
    cd15496
    Location:247300
    PHD_PHF7_G2E3_like; PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
    cd15669
    Location:33144
    ePHD_PHF7_G2E3_like; Extended PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
  2. XM_011533826.3XP_011532128.1  PHD finger protein 7 isoform X2

    Conserved Domains (1) summary
    cd15669
    Location:33144
    ePHD_PHF7_G2E3_like; Extended PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173341.1: Suppressed sequence

    Description
    NM_173341.1: This RefSeq was permanently suppressed because currently there is support for the protein but not for the 5' UTR of the transcript.
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