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PDE10A phosphodiesterase 10A [ Homo sapiens (human) ]

Gene ID: 10846, updated on 7-Dec-2018

Summary

Official Symbol
PDE10Aprovided by HGNC
Official Full Name
phosphodiesterase 10Aprovided by HGNC
Primary source
HGNC:HGNC:8772
See related
Ensembl:ENSG00000112541 MIM:610652
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
ADSD2; IOLOD; HSPDE10A; PDE10A19; LINC00473
Summary
The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]
Expression
Broad expression in thyroid (RPKM 3.6), urinary bladder (RPKM 2.0) and 16 other tissues See more
Orthologs

Genomic context

See PDE10A in Genome Data Viewer
Location:
6q27
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (165327287..165988115, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (165740776..166075588, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378113 Neighboring gene chromosome 6 open reading frame 118 Neighboring gene uncharacterized LOC105378116 Neighboring gene RNA, 5S ribosomal pseudogene 226 Neighboring gene uncharacterized LOC105378115 Neighboring gene RNA, U6 small nuclear 730, pseudogene Neighboring gene uncharacterized LOC105378114 Neighboring gene long intergenic non-protein coding RNA 473 Neighboring gene LINC00602-GAPDHP72 intergenic CAGE-defined low expression enhancer Neighboring gene long intergenic non-protein coding RNA 602 Neighboring gene uncharacterized LOC105378117

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?

Phenotypes

Associated conditions

Description Tests
Dyskinesia, limb and orofacial, infantile-onset
MedGen: C4310792 OMIM: 616921 GeneReviews: Not available
Compare labs
Striatal degeneration, autosomal dominant 2
MedGen: C4310791 OMIM: 616922 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.
NHGRI GWA Catalog
Genome-wide association study of conduct disorder symptomatology.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat decreases the intracellular levels of cAMP and CREB ser-133 phosphorylation through a signal transduction pathway involving sequential activation of phosphatidylinositol 3-kinase, AKT, and cyclic nucleoside phosphodiesterases PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Morphine addiction, organism-specific biosystem (from KEGG)
    Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Morphine addiction, conserved biosystem (from KEGG)
    Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Nitric oxide stimulates guanylate cyclase, organism-specific biosystem (from REACTOME)
    Nitric oxide stimulates guanylate cyclase, organism-specific biosystemNitric Oxide (NO) inhibits smooth muscle cell proliferation and migration, oxidation of low-density lipoproteins, and platelet aggregation and adhesion. It can stimulate vasodilatation of the endothe...
  • Platelet homeostasis, organism-specific biosystem (from REACTOME)
    Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
  • 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 GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • cGMP effects, organism-specific biosystem (from REACTOME)
    cGMP effects, organism-specific biosystemCyclic guanosine monophosphate (cGMP) is an important secondary messenger synthesized by guanylate cyclases. cGMP has effects on phosphodiesterases (PDE), ion-gated channels, and the cGMP-dependent p...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11894, FLJ25677

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3',5'-cyclic-AMP phosphodiesterase activity TAS
Traceable Author Statement
more info
 
3',5'-cyclic-GMP phosphodiesterase activity TAS
Traceable Author Statement
more info
 
3',5'-cyclic-nucleotide phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cAMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cAMP binding IDA
Inferred from Direct Assay
more info
PubMed 
cAMP binding NAS
Non-traceable Author Statement
more info
PubMed 
cGMP binding NAS
Non-traceable Author Statement
more info
PubMed 
cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
cAMP catabolic process IEA
Inferred from Electronic Annotation
more info
 
cGMP catabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cAMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cGMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of protein kinase A signaling IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A
Names
3',5' cAMP/cGMP phosphodiesterase
dJ416F21.1 (phosphodiesterase 10A)
phosphodiesterase 10A1 (PDE10A1)
phosphodiesterase 10A7 (PDE10A7)
NP_001124162.1
NP_006652.1
XP_006715384.1
XP_011533689.2
XP_011533690.1
XP_011533695.1
XP_016865683.1
XP_016865684.1
XP_016865685.1
XP_016865686.1
XP_024302079.1
XP_024302080.1

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_031878.2 RefSeqGene

    Range
    5001..339814
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130690.2NP_001124162.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform 1

    See identical proteins and their annotated locations for NP_001124162.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB020593, AF127480, AI632009, AK098543, AL117345, DR000181
    Consensus CDS
    CCDS47513.1
    UniProtKB/Swiss-Prot
    Q9Y233
    Related
    ENSP00000355847.2, ENST00000366882.6
    Conserved Domains (3) summary
    smart00065
    Location:277432
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:524756
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:101244
    GAF; GAF domain
  2. NM_006661.3NP_006652.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform 2

    See identical proteins and their annotated locations for NP_006652.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region, which includes an in-frame AUG start codon, as compared to variant 1. The resulting isoform (2) has an alternate and shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AB020593, AL117345, AL121789
    Consensus CDS
    CCDS5289.1
    UniProtKB/Swiss-Prot
    Q9Y233
    UniProtKB/TrEMBL
    A0A1B1UZR0
    Conserved Domains (3) summary
    smart00065
    Location:267422
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:514742
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:91234
    GAF; GAF domain

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_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    165327287..165988115 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535387.3XP_011533689.2  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X1

  2. XM_017010194.2XP_016865683.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X2

  3. XM_024446311.1XP_024302079.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X3

    Related
    ENSP00000497426.1, ENST00000650117.1
    Conserved Domains (3) summary
    smart00065
    Location:267422
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:514742
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:91234
    GAF; GAF domain
  4. XM_006715321.4XP_006715384.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X4

    Conserved Domains (3) summary
    smart00065
    Location:260415
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:507739
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:84227
    GAF; GAF domain
  5. XM_011535388.3XP_011533690.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X3

    See identical proteins and their annotated locations for XP_011533690.1

    UniProtKB/Swiss-Prot
    Q9Y233
    UniProtKB/TrEMBL
    A0A1B1UZR0
    Conserved Domains (3) summary
    smart00065
    Location:267422
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:514742
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:91234
    GAF; GAF domain
  6. XM_017010196.2XP_016865685.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X6

    UniProtKB/TrEMBL
    A0A1B1UZQ1
    Conserved Domains (3) summary
    smart00065
    Location:197352
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:444672
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:21164
    GAF; GAF domain
  7. XM_024446312.1XP_024302080.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X6

    Related
    ENSP00000497392.1, ENST00000648884.1
    Conserved Domains (3) summary
    smart00065
    Location:197352
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:444672
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:21164
    GAF; GAF domain
  8. XM_017010195.2XP_016865684.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X5

    Conserved Domains (3) summary
    smart00065
    Location:220375
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:467699
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:44187
    GAF; GAF domain
  9. XM_011535393.3XP_011533695.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X8

    Conserved Domains (2) summary
    smart00065
    Location:2109
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:201433
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
  10. XM_017010197.2XP_016865686.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X7

RNA

  1. XR_001743121.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_045597.1: Suppressed sequence

    Description
    NR_045597.1: This RefSeq was permanently suppressed because it is now thought that this transcript variant encodes a protein.
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