PDC phosducin [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.
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.

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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)

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

SHGC-76031 (e-PCR)
- UniSTS:66836

D1S3537 (e-PCR)
- UniSTS:667

NoName (e-PCR)
- UniSTS:483289

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

NG_009101.1 RefSeqGene

Range

4994..22542

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

186443566..186461114 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

185798329..185815896 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.