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    PDE10A phosphodiesterase 10A [ Homo sapiens (human) ]

    Gene ID: 10846, updated on 10-Dec-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (165327289..165988052, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (166693362..167356384, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases. Kalampokini S, et al. Neuropediatrics, 2024 Aug. PMID 38442915
    2. Cloning and characterization of a novel human phosphodiesterase that hydrolyzes both cAMP and cGMP (PDE10A). Fujishige K, et al. J Biol Chem, 1999 Jun 25. PMID 10373451
    3. Isolation and characterization of PDE10A, a novel human 3', 5'-cyclic nucleotide phosphodiesterase. Loughney K, et al. Gene, 1999 Jun 24. PMID 10393245
    4. Characterization and phosphorylation of PDE10A2, a novel alternative splice variant of human phosphodiesterase that hydrolyzes cAMP and cGMP. Kotera J, et al. Biochem Biophys Res Commun, 1999 Aug 11. PMID 10441464
    5. The human phosphodiesterase PDE10A gene genomic organization and evolutionary relatedness with other PDEs containing GAF domains. Fujishige K, et al. Eur J Biochem, 2000 Oct. PMID 10998054

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Alterations of striatal phosphodiesterase 10 A and their association with recurrence rate in bipolar I disorder.
      Title: Alterations of striatal phosphodiesterase 10 A and their association with recurrence rate in bipolar I disorder.
    2. PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases.
      Title: PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases.
    3. Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders.
      Title: Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (36)

    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
    		not available
    Striatal degeneration, autosomal dominant 2
    MedGen: C4310791 OMIM: 616922 GeneReviews: Not available
    		not available

    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)

    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'-cGMP-inhibited cyclic-nucleotide phosphodiesterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 3',5'-cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3',5'-cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 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 cAMP-mediated signaling 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
    		  
    located_in extrinsic component of postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    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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    NEW Try the new Transcript table

    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_2024_08

    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, A0A3B3IRU7

    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, A0A3B3IRU7
      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

      UniProtKB/TrEMBL
      A0A1B1UZR6

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

      UniProtKB/TrEMBL
      A0A1B1UZQ1, A0A1B1UZR6
      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

      UniProtKB/TrEMBL
      A0A5F9ZI67

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

      UniProtKB/TrEMBL
      A0A5F9ZI67

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

      UniProtKB/TrEMBL
      A0A1B1UZR0, A0A3B3IRU7

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

      UniProtKB/TrEMBL
      A0A3B3IRU7

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

      UniProtKB/TrEMBL
      A0A1B1UZR6

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

      UniProtKB/TrEMBL
      A0A1B1UZQ1, A0A1B1UZR6

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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