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PDE10A phosphodiesterase 10A [ Homo sapiens (human) ]

Gene ID: 10846, updated on 11-Apr-2024

Summary

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Official Symbol
PDE10Aprovided by HGNC
Official Full Name
phosphodiesterase 10Aprovided by HGNC
Primary source
HGNC:HGNC:8772
See related
Ensembl:ENSG00000112541 MIM:610652; AllianceGenome:HGNC:8772
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
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Genomic context

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See PDE10A in Genome Data Viewer
Location:
6q27
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (165327289..165988052, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (166693362..167356384, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (165740778..166076729, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr6:165708186-165708356 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:165711405-165712604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:165714707-165715207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:165722813-165723312 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 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:165987761-165988960 Neighboring gene NANOG hESC enhancer GRCh37_chr6:166011177-166011678 Neighboring gene uncharacterized LOC105378115 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:166100220-166101419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:166107460-166107960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:166140441-166141048 Neighboring gene RNA, U6 small nuclear 730, pseudogene Neighboring gene uncharacterized LOC124901458 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:166255604-166256584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:166256585-166257564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25427 Neighboring gene long intergenic non-protein coding RNA 473 Neighboring gene LINC00602-GAPDHP72 intergenic CAGE-defined low expression enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:166422185-166422887 Neighboring gene long intergenic non-protein coding RNA 602 Neighboring gene uncharacterized LOC105378117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25428 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:166463835-166464517 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 72

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
  • 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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Related articles in PubMed

  1. Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders. Bohlega S, et al. Parkinsonism Relat Disord, 2023 Mar. PMID 36805523
  2. Phosphodiesterase 10A (PDE10A) as a novel target to suppress β-catenin and RAS signaling in epithelial ovarian cancer. Borneman RM, et al. J Ovarian Res, 2022 Nov 2. PMID 36324187, Free PMC Article
  3. Papaverine, a Phosphodiesterase 10A Inhibitor, Ameliorates Quinolinic Acid-Induced Synaptotoxicity in Human Cortical Neurons. Bhat A, et al. Neurotox Res, 2021 Aug. PMID 33914237
  4. LINC00473 downregulation facilitates trophoblast cell migration and invasion via the miR-15a-5p/LITAF axis in pre-eclampsia. Chi Z, et al. Environ Toxicol, 2021 Aug. PMID 33908139
  5. Chorea-related mutations in PDE10A result in aberrant compartmentalization and functionality of the enzyme. Tejeda GS, et al. Proc Natl Acad Sci U S A, 2020 Jan 7. PMID 31871190, Free PMC Article

See all (63) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders.
    Title: Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders.
  2. Phosphodiesterase 10A (PDE10A) as a novel target to suppress beta-catenin and RAS signaling in epithelial ovarian cancer.
    Title: Phosphodiesterase 10A (PDE10A) as a novel target to suppress β-catenin and RAS signaling in epithelial ovarian cancer.
  3. Role of PDE10A in vascular smooth muscle cell hyperplasia and pathological vascular remodelling.
    Title: Role of PDE10A in vascular smooth muscle cell hyperplasia and pathological vascular remodelling.
  4. Papaverine, a Phosphodiesterase 10A Inhibitor, Ameliorates Quinolinic Acid-Induced Synaptotoxicity in Human Cortical Neurons.
    Title: Papaverine, a Phosphodiesterase 10A Inhibitor, Ameliorates Quinolinic Acid-Induced Synaptotoxicity in Human Cortical Neurons.
  5. LINC00473 downregulation facilitates trophoblast cell migration and invasion via the miR-15a-5p/LITAF axis in pre-eclampsia.
    Title: LINC00473 downregulation facilitates trophoblast cell migration and invasion via the miR-15a-5p/LITAF axis in pre-eclampsia.
  6. Phosphodiesterases PDE2A and PDE10A both change mRNA expression in the human brain with age, but only PDE2A changes in a region-specific manner with psychiatric disease.
    Title: Phosphodiesterases PDE2A and PDE10A both change mRNA expression in the human brain with age, but only PDE2A changes in a region-specific manner with psychiatric disease.
  7. Mutations in the regulatory GAF domains of PDE10A that cause hyperkinetic syndromes in humans lead to misprocessing of the PDE10A enzyme that ultimately leads to targeted degradation by the ubiquitin proteasome system or clearance by autophagy. Both mechanisms result in a paucity of PDE10A activity that lead to a loss of movement coordination.
    Title: Chorea-related mutations in PDE10A result in aberrant compartmentalization and functionality of the enzyme.
  8. PDE10A IgG defines a novel rare neurologic autoimmune syndrome and expands the spectrum of diagnosable paraneoplastic CNS disorders.
    Title: Phosphodiesterase 10A IgG: A novel biomarker of paraneoplastic neurologic autoimmunity.
  9. indicate an association between PDE10A and ADCY5 mutations and pre/postsynaptic molecular changes, substantia nigra damage, and white and gray matter changes within the striatocortical pathways
    Title: PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.
  10. This report that PDE10A mutation is associated with familial Benign hereditary chorea.
    Title: A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.
Submit: New GeneRIF Correction See all GeneRIFs (34)

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

Associated conditions

Description Tests
Infantile-onset generalized dyskinesia with orofacial involvement
MedGen: C5567464 OMIM: 616921 GeneReviews: Not available
Compare labs
Striatal degeneration, autosomal dominant 2
MedGen: C4310791 OMIM: 616922 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

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 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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11894, FLJ25677, FLJ33369

Gene Ontology Provided by GOA

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

General protein information

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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_001372008.1
NP_006652.1
XP_006715384.1
XP_011533689.2
XP_011533690.1
XP_016865683.1
XP_016865684.1
XP_016865686.1
XP_047274054.1
XP_047274055.1
XP_047274056.1
XP_047274057.1
XP_054210043.1
XP_054210044.1
XP_054210045.1
XP_054210046.1
XP_054210047.1
XP_054210048.1
XP_054210049.1

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_031878.3 RefSeqGene

    Range
    329811..665763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130690.3 → NP_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) uses a downstream in-frame translation start site, compared to variant 3. The encoded isoform (1) has a shorter N-terminus, compared to isoform 3.
    Source sequence(s)
    AL117345, AL121789, AL136130, AL160160, KF458359
    UniProtKB/TrEMBL
    A0A3B3IRU7
    Conserved Domains (3) summary
    smart00065
    Location:277 → 432
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:524 → 756
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:101 → 244
    GAF; GAF domain

  2. NM_001385079.1 → NP_001372008.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3). It uses upstream transcription and translation start sites, compared to variant 1.
    Source sequence(s)
    AL117345, AL121789, AL136130, AL160160, KF458359
    Consensus CDS
    CCDS94029.1
    UniProtKB/Swiss-Prot
    A0A3F2YP58, Q6FHX1, Q9HCP9, Q9NTV4, Q9ULW9, Q9Y233, Q9Y5T1
    Related
    ENSP00000438284.3, ENST00000539869.4
    Conserved Domains (3) summary
    smart00065
    Location:543 → 698
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:790 → 1022
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:367 → 510
    GAF; GAF domain

  3. NM_006661.4 → NP_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

    Source sequence(s)
    AB020593, AL117345, AL121789
    UniProtKB/TrEMBL
    A0A1B1UZR0, A0A3B3IRU7
    Conserved Domains (3) summary
    smart00065
    Location:267 → 422
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:514 → 746
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:91 → 234
    GAF; GAF domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    165327289..165988052 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535387.4 → XP_011533689.2  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X1

    UniProtKB/TrEMBL
    A0A5F9ZI67
    Related
    ENSP00000500351.1, ENST00000672902.1

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

    UniProtKB/TrEMBL
    A0A5F9ZI67

  3. XM_047418099.1 → XP_047274055.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X3

    UniProtKB/TrEMBL
    A0A1B1UZR0

  4. XM_017010195.3 → XP_016865684.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X5

    UniProtKB/TrEMBL
    A0A1B1UZR6
    Conserved Domains (3) summary
    smart00065
    Location:220 → 375
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:467 → 699
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:44 → 187
    GAF; GAF domain

  5. XM_047418098.1 → XP_047274054.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X3

    UniProtKB/TrEMBL
    A0A1B1UZR0
    Related
    ENST00000647989.1

  6. XM_006715321.5 → XP_006715384.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X4

    UniProtKB/TrEMBL
    A0A3B3IRU7
    Related
    ENSP00000497062.1, ENST00000647590.1
    Conserved Domains (3) summary
    smart00065
    Location:260 → 415
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:507 → 739
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:84 → 227
    GAF; GAF domain

  7. XM_011535388.4 → XP_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/TrEMBL
    A0A1B1UZR0, A0A3B3IRU7
    Conserved Domains (3) summary
    smart00065
    Location:267 → 422
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:514 → 746
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
    pfam01590
    Location:91 → 234
    GAF; GAF domain

  8. XM_047418100.1 → XP_047274056.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X5

  9. XM_047418101.1 → XP_047274057.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X6

    UniProtKB/TrEMBL
    A0A1B1UZQ1
    Related
    ENSP00000497392.1, ENST00000648884.1

  10. XM_017010197.3 → XP_016865686.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    166693362..167356384 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354068.1 → XP_054210043.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X1

  2. XM_054354069.1 → XP_054210044.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X2

  3. XM_054354070.1 → XP_054210045.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X3

    UniProtKB/TrEMBL
    A0A1B1UZR0

  4. XM_054354071.1 → XP_054210046.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X4

  5. XM_054354072.1 → XP_054210047.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X5

  6. XM_054354073.1 → XP_054210048.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X6

    UniProtKB/TrEMBL
    A0A1B1UZQ1

  7. XM_054354074.1 → XP_054210049.1  cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A isoform X7

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y233.2 GenPept UniProtKB/Swiss-Prot:Q9Y233

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