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PDE6G phosphodiesterase 6G [ Homo sapiens (human) ]

Gene ID: 5148, updated on 3-Nov-2018

Summary

Official Symbol
PDE6Gprovided by HGNC
Official Full Name
phosphodiesterase 6Gprovided by HGNC
Primary source
HGNC:HGNC:8789
See related
Ensembl:ENSG00000185527 MIM:180073; Vega:OTTHUMG00000178038
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
PDEG; RP57
Summary
This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
Expression
Biased expression in spleen (RPKM 3.3), lymph node (RPKM 1.9) and 12 other tissues See more
Orthologs

Genomic context

See PDE6G in Genome Data Viewer
Location:
17q25.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (81650459..81663418, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79617489..79623607, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NPL4 homolog, ubiquitin recognition factor Neighboring gene tetraspanin 10 Neighboring gene coiled-coil domain containing 137 Neighboring gene oxidoreductase like domain containing 1

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Activation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Activation of the phototransduction cascade, organism-specific biosystemThe photoreceptor cascade starts with light isomerization of 11-cis-retinal (11cRAL) of rhodopsin (RHO) to all-trans-retinal (atRAL), inducing a conformational change in RHO to the active, metarhodop...
  • Beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
    Beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
  • Ca2+ pathway, organism-specific biosystem (from REACTOME)
    Ca2+ pathway, organism-specific biosystemA number of so called non-canonical WNT ligands have been shown to promote intracellular calcium release upon FZD binding. This beta-catenin-independent WNT pathway acts through heterotrimeric G pro...
  • Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystemTo terminate the single photon response and restore the system to its basal state, the three activated intermediates in phototransduction, rhodopsin (MII), transducin alpha subunit with GTP bound (GN...
  • Phototransduction, organism-specific biosystem (from KEGG)
    Phototransduction, organism-specific biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Phototransduction, conserved biosystem (from KEGG)
    Phototransduction, conserved biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Purine metabolism, organism-specific biosystem (from KEGG)
    Purine metabolism, organism-specific biosystem
    Purine metabolism
  • Purine metabolism, conserved biosystem (from KEGG)
    Purine metabolism, conserved biosystem
    Purine metabolism
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • The phototransduction cascade, organism-specific biosystem (from REACTOME)
    The phototransduction cascade, organism-specific biosystemThe visual pigment (rhodopsin in rods) consists of an 11-cis-retinal (11cRAL) chromophore covalently attached to a GPCR opsin family member via a Schiff base linkage. Upon photon absorption, 11cRAL i...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
  • Visual signal transduction: Rods, organism-specific biosystem (from Pathway Interaction Database)
    Visual signal transduction: Rods, organism-specific biosystem
    Visual signal transduction: Rods

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125749, DKFZp686C0587

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3',5'-cyclic-GMP phosphodiesterase activity IEA
Inferred from Electronic Annotation
more info
 
cGMP binding IEA
Inferred from Electronic Annotation
more info
 
enzyme inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
spectrin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
activation of MAPK activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epidermal growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
Names
GMP-PDE gamma
phosphodiesterase 6G, cGMP-specific, rod, gamma
rod cG-PDE G
NP_002593.1
XP_006722005.1
XP_016880223.1
XP_016880224.1
XP_016880225.1

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_009834.2 RefSeqGene

    Range
    11842..17960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001365724.1NP_001352653.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3, and 4 all encode the same protein.
    Source sequence(s)
    AC139530, EL945892
    Conserved Domains (1) summary
    pfam04868
    Location:687
    PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit
  2. NM_001365725.1NP_001352654.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3, and 4 all encode the same protein.
    Source sequence(s)
    AC139530
    Conserved Domains (1) summary
    pfam04868
    Location:687
    PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit
  3. NM_002602.3NP_002593.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

    See identical proteins and their annotated locations for NP_002593.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 3, and 4 all encode the same protein.
    Source sequence(s)
    AC139530, BC106884, BQ639132, BX647779
    Consensus CDS
    CCDS11783.1
    UniProtKB/Swiss-Prot
    P18545
    Related
    ENSP00000328412.5, ENST00000331056.9
    Conserved Domains (1) summary
    pfam04868
    Location:687
    PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit

RNA

  1. NR_026872.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AC139530, BQ639132, BX647779
    Related
    ENST00000574024.1, OTTHUMT00000440376
  2. NR_158591.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' end compared to variant 1. This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC139530, BM685565, EL945892

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_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    81650459..81663418 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024734.1XP_016880223.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X1

  2. XM_006721942.3XP_006722005.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X3

    See identical proteins and their annotated locations for XP_006722005.1

    UniProtKB/Swiss-Prot
    P18545
    UniProtKB/TrEMBL
    A0A0C4DGN0
    Related
    ENSP00000458567.1, OTTHUMP00000258420, ENST00000573076.5, OTTHUMT00000440377
    Conserved Domains (1) summary
    pfam04868
    Location:56137
    PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit
  3. XM_017024735.1XP_016880224.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X2

    UniProtKB/Swiss-Prot
    P18545
    Related
    ENSP00000461464.1, OTTHUMP00000258394, ENST00000571004.1, OTTHUMT00000440314
    Conserved Domains (1) summary
    pfam04868
    Location:687
    PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit
  4. XM_017024736.1XP_016880225.1  retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X2

    UniProtKB/Swiss-Prot
    P18545
    Related
    ENSP00000458167.1, OTTHUMP00000258421, ENST00000571224.5, OTTHUMT00000440379
    Conserved Domains (1) summary
    pfam04868
    Location:687
    PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit
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