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PDC phosducin [ Homo sapiens (human) ]

Gene ID: 5132, updated on 2-Nov-2024

Summary

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Official Symbol
PDCprovided by HGNC
Official Full Name
phosducinprovided by HGNC
Primary source
HGNC:HGNC:8759
See related
Ensembl:ENSG00000116703 MIM:171490; AllianceGenome:HGNC:8759
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
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Genomic context

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See PDC in Genome Data Viewer
Location:
1q31.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (186443566..186461114, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (185798329..185815896, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (186412698..186430246, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1240, pseudogene Neighboring gene proteoglycan 4 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:186312648-186313847 Neighboring gene MPRA-validated peak515 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:186323778-186324977 Neighboring gene translocated promoter region, nuclear basket protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2248 Neighboring gene odr-4 GPCR localization factor homolog Neighboring gene PDC antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:186481023-186481524 Neighboring gene parkin coregulated like pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:186606177-186606842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:186606843-186607508 Neighboring gene Sharpr-MPRA regulatory region 15579 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:186646706-186647905 Neighboring gene prostaglandin-endoperoxide synthase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phosducin regulates secretory activity in TT line of thyroid parafollicular C cells.
    Title: Phosducin regulates secretory activity in TT line of thyroid parafollicular C cells.
  2. Data suggest that phosducin rs12402521 polymorphism is an important genetic predictor of obesity-related hypertension.
    Title: Phosducin rs12402521 polymorphism predicts development of hypertension in young subjects with overweight or obesity.
  3. identification of Pdc as a gene for stress-induced hypertension offers new insights into the relationship between sympathetic nervous system activation, blood pressure regulation and genetic factors
    Title: The identification of phosducin as a novel candidate gene for hypertension and its role in sympathetic activation.
  4. Data suggest that the existence of a common epitope on the molecules of phosducin and beta-actin may reflect a topological similarity of a small region of their surfaces.
    Title: Phosducin and monomeric β-actin have common epitope recognized by anti-phosducin antibodies.
  5. Candidate gene-based association studies in 2 different populations revealed several SNPs in the PDC gene to be associated with stress-dependent blood pressure phenotypes.
    Title: Phosducin influences sympathetic activity and prevents stress-induced hypertension in humans and mice.
  6. SUMO-1 controls the protein stability and the biological function of phosducin.
    Title: SUMO-1 controls the protein stability and the biological function of phosducin.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.
  8. Phosducin mutations are not a major cause of dominant or recessive retinitis pigmentosa, Leber congenital amaurosis, or cone-rod degeneration.
    Title: Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phospholipase inhibitor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in phototransduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
  
is_active_in photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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

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.

Genomic

  1. NG_009101.1 RefSeqGene

    Range
    4994..22542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002597.5 → NP_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)
    AL663036, BC093839, BM674109, BM715757, EL945964
    Consensus CDS
    CCDS1370.1
    UniProtKB/Swiss-Prot
    P20941, Q14816, Q9UP22, Q9UP23
    UniProtKB/TrEMBL
    Q52LP8
    Related
    ENSP00000375855.2, ENST00000391997.3
    Conserved Domains (2) summary
    cd02987
    Location:14 → 225
    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:1 → 246
    Phosducin; Phosducin

  2. NM_022576.4 → NP_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/TrEMBL
    Q52LP8
    Related
    ENSP00000422775.1, ENST00000497198.1
    Conserved Domains (1) summary
    cd02987
    Location:10 → 173
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    186443566..186461114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    185798329..185815896 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20941.1 GenPept UniProtKB/Swiss-Prot:P20941

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