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PDC phosducin [ Homo sapiens (human) ]

Gene ID: 5132, updated on 8-Dec-2018

Summary

Official Symbol
PDCprovided by HGNC
Official Full Name
phosducinprovided by HGNC
Primary source
HGNC:HGNC:8759
See related
Ensembl:ENSG00000116703 MIM:171490
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
PHD; MEKA; PhLP; PhLOP
Summary
This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See PDC in Genome Data Viewer
Location:
1q31.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (186443566..186461108, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (186412698..186430240, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1240, pseudogene Neighboring gene proteoglycan 4 Neighboring gene translocated promoter region, nuclear basket protein Neighboring gene odr-4 GPCR localization factor homolog Neighboring gene uncharacterized LOC102724919 Neighboring gene oculomedin Neighboring gene parkin coregulated like pseudogene Neighboring gene prostaglandin-endoperoxide synthase 2

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 FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Interaction of HIV-1 Tat with PHD in T-cells is identified by a proteomic strategy based on affinity chromatography coupled with mass spectrometry 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
phospholipase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
phototransduction TAS
Traceable Author Statement
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
phosducin
Names
33 kDa phototransducing protein
G beta gamma binding protein
phosducin-like orphan protein

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.

Genomic

  1. NG_009101.1 RefSeqGene

    Range
    5000..22542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002597.4NP_002588.3  phosducin isoform a

    See identical proteins and their annotated locations for NP_002588.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as PHD, represents the longer transcript, and encodes the longer isoform (a).
    Source sequence(s)
    BC093839, BM674109, BM715757, EL945964
    Consensus CDS
    CCDS1370.1
    UniProtKB/Swiss-Prot
    P20941
    UniProtKB/TrEMBL
    Q52LP8
    Related
    ENSP00000375855.2, ENST00000391997.2
    Conserved Domains (2) summary
    cd02987
    Location:14225
    Phd_like_Phd; Phosducin (Phd)-like family, Phd subfamily; Phd is a cytosolic regulator of G protein functions. It specifically binds G protein betagamma (Gbg)-subunits with high affinity, resulting in the solubilization of Gbg from the plasma membrane. This impedes ...
    pfam02114
    Location:1246
    Phosducin; Phosducin
  2. NM_022576.3NP_072098.1  phosducin isoform b

    See identical proteins and their annotated locations for NP_072098.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as PHLOP1, has an alternate 5' sequence, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AF076464, BM674109
    Consensus CDS
    CCDS41447.1
    UniProtKB/Swiss-Prot
    P20941
    UniProtKB/TrEMBL
    A0A024R982
    Related
    ENSP00000422775.1, ENST00000497198.1
    Conserved Domains (1) summary
    cd02987
    Location:10173
    Phd_like_Phd; Phosducin (Phd)-like family, Phd subfamily; Phd is a cytosolic regulator of G protein functions. It specifically binds G protein betagamma (Gbg)-subunits with high affinity, resulting in the solubilization of Gbg from the plasma membrane. This impedes ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    186443566..186461108 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509603.2XP_011507905.1  phosducin isoform X1

    See identical proteins and their annotated locations for XP_011507905.1

    UniProtKB/Swiss-Prot
    P20941
    Conserved Domains (2) summary
    cd02987
    Location:14225
    Phd_like_Phd; Phosducin (Phd)-like family, Phd subfamily; Phd is a cytosolic regulator of G protein functions. It specifically binds G protein betagamma (Gbg)-subunits with high affinity, resulting in the solubilization of Gbg from the plasma membrane. This impedes ...
    pfam02114
    Location:1246
    Phosducin; Phosducin

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_022577.1: Suppressed sequence

    Description
    NM_022577.1: This RefSeq was permanently suppressed because the transcript represents a chimeric sequence with nts 1-77 aligning to chromosome 3 and 78-1421 to chromosome 1.
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