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PDE6A phosphodiesterase 6A [ Homo sapiens (human) ]

Gene ID: 5145, updated on 4-Nov-2022

Summary

Official Symbol
PDE6Aprovided by HGNC
Official Full Name
phosphodiesterase 6Aprovided by HGNC
Primary source
HGNC:HGNC:8785
See related
Ensembl:ENSG00000132915 MIM:180071; AllianceGenome:HGNC:8785
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
PDEA; RP43; CGPR-A
Summary
This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See PDE6A in Genome Data Viewer
Location:
5q32
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (149857953..149944793, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150394428..150481347, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149237516..149324356, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene PPARG coactivator 1 beta Neighboring gene microRNA 378a Neighboring gene NFE2L2 motif-containing MPRA enhancer 202 Neighboring gene Sharpr-MPRA regulatory region 12732 Neighboring gene Sharpr-MPRA regulatory region 12514 Neighboring gene MFF pseudogene 2 Neighboring gene solute carrier family 26 member 2 Neighboring gene tigger transposable element derived 6

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3',5'-cyclic-GMP phosphodiesterase activity IEA
Inferred from Electronic Annotation
more info
 
enables 3',5'-cyclic-nucleotide phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in retina development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
is_active_in photoreceptor outer segment membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
Names
GMP-PDE alpha
PDE V-B1
cGMP phosphodiesterase alpha subunit
phosphodiesterase 6A, cGMP-specific, rod, alpha
retinitis pigmentosa type 43
rod photoreceptor cGMP phosphodiesterase alpha subunit
NP_000431.2
XP_011535952.1
XP_011535953.1
XP_011535955.1
XP_011535956.1
XP_016865061.1

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_009102.1 RefSeqGene

    Range
    5001..91841
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000440.3NP_000431.2  rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform 1

    See identical proteins and their annotated locations for NP_000431.2

    Status: REVIEWED

    Source sequence(s)
    AC008427, AC008545, BC035909, BU734142, M26061
    Consensus CDS
    CCDS4299.1
    UniProtKB/Swiss-Prot
    P16499, Q0P638
    Related
    ENSP00000255266.5, ENST00000255266.10
    Conserved Domains (2) summary
    smart00065
    Location:254441
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:558802
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  2. NM_001410788.1NP_001397717.1  rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008427, AC008545
    Consensus CDS
    CCDS93802.1
    UniProtKB/TrEMBL
    F1T0K3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    149857953..149944793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009572.3XP_016865061.1  rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform X1

    UniProtKB/TrEMBL
    F1T0K3
    Related
    ENSP00000478060.1, ENST00000613228.1
    Conserved Domains (2) summary
    smart00065
    Location:173360
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:477721
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  2. XM_011537650.3XP_011535952.1  rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform X2

    Conserved Domains (2) summary
    smart00065
    Location:40146
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:263507
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  3. XM_011537651.2XP_011535953.1  rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform X3

    Conserved Domains (2) summary
    smart00065
    Location:792
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:209453
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  4. XM_011537654.2XP_011535956.1  rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform X4

    See identical proteins and their annotated locations for XP_011535956.1

    Conserved Domains (2) summary
    smart00065
    Location:1182
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:199443
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  5. XM_011537653.2XP_011535955.1  rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform X4

    See identical proteins and their annotated locations for XP_011535955.1

    Conserved Domains (2) summary
    smart00065
    Location:1182
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:199443
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    150394428..150481347 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)