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    DCTD dCMP deaminase [ Homo sapiens (human) ]

    Gene ID: 1635, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DCTDprovided by HGNC
    Official Full Name
    dCMP deaminaseprovided by HGNC
    Primary source
    HGNC:HGNC:2710
    See related
    Ensembl:ENSG00000129187 MIM:607638; AllianceGenome:HGNC:2710
    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
    Summary
    The protein encoded by this gene catalyzes the deamination of dCMP to dUMP, the nucleotide substrate for thymidylate synthase. The encoded protein is allosterically activated by dCTP and inhibited by dTTP, and is found as a homohexamer. This protein uses zinc as a cofactor for its activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 37.0), adrenal (RPKM 19.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DCTD in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (182890091..182917611, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (186233649..186261170, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (183811244..183838764, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene teneurin transmembrane protein 3 Neighboring gene uncharacterized LOC105377571 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:183705545-183706046 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:183728786-183729724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:183729853-183730354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15824 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:183735292-183735847 Neighboring gene chr4 t(4;18)(q35;q18) HERV-H recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:183783677-183784250 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:183783101-183783676 Neighboring gene uncharacterized LOC105377576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:183816185-183816755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:183818782-183819282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22178 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:183846516-183846718 Neighboring gene uncharacterized LOC105377577 Neighboring gene uncharacterized LOC107986327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22182

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Deoxycytidylate deaminase activity in non-stimulated and phytohemagglutinin-stimulated human lymphocytes, and in leukemic cells. Tyrsted G, et al. Mol Cell Biochem, 1987 Jul. PMID 3627112
    2. Chromosomal location and structural organization of the human deoxycytidylate deaminase gene. Weiner KX, et al. J Biol Chem, 1995 Aug 11. PMID 7642519
    3. Primary structure of human deoxycytidylate deaminase and overexpression of its functional protein in Escherichia coli. Weiner KX, et al. J Biol Chem, 1993 Jun 15. PMID 7685356
    4. Targeting the nucleotide salvage factor DNPH1 sensitizes BRCA-deficient cells to PARP inhibitors. Fugger K, et al. Science, 2021 Apr 9. PMID 33833118, Free PMC Article
    5. Properties of an affinity-column-purified human deoxycytidylate deaminase. Maley GF, et al. Biochim Biophys Acta, 1993 Mar 5. PMID 8448179

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Gemcitabine metabolic and transporter gene polymorphisms are associated with drug toxicity and efficacy in patients with locally advanced pancreatic cancer.
    2. Clinical trial of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of gemcitabine metabolic genes and pancreatic cancer survival and drug toxicity.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: An association between RRM1 haplotype and gemcitabine-induced neutropenia in breast cancer patients.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    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

    • MGC111062

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5-hydroxymethyl-dUMP N-hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables dCMP deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cytidine deamination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dTMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dUMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleoside salvage IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nucleotide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pyrimidine nucleotide metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    deoxycytidylate deaminase
    NP_001012750.1
    NP_001338672.1
    NP_001338673.1
    NP_001338674.1
    NP_001338676.1
    NP_001338677.1
    NP_001338679.1
    NP_001338682.1
    NP_001912.2
    XP_005262835.1
    XP_016863309.1
    XP_054205044.1
    XP_054205045.1

    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.

    mRNA and Protein(s)

    1. NM_001012732.2 → NP_001012750.1  deoxycytidylate deaminase isoform a

      See identical proteins and their annotated locations for NP_001012750.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC079766, BI544680, BU188090
      Consensus CDS
      CCDS34108.1
      UniProtKB/TrEMBL
      D6RBJ9
      Related
      ENSP00000349576.3, ENST00000357067.7
      Conserved Domains (1) summary
      cd01286
      Location:28 → 149
      deoxycytidylate_deaminase; Deoxycytidylate deaminase domain. Deoxycytidylate deaminase catalyzes the deamination of dCMP to dUMP, providing the nucleotide substrate for thymidylate synthase. The enzyme binds Zn++, which is required for catalytic activity. The activity of the ...

    2. NM_001351743.2 → NP_001338672.1  deoxycytidylate deaminase isoform b

      Status: REVIEWED

      Source sequence(s)
      AC079766, AK310788, AL539949, BC088357, BM970269, L12136
      Consensus CDS
      CCDS3831.1
      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
      Conserved Domains (1) summary
      cd01286
      Location:17 → 138
      deoxycytidylate_deaminase; Deoxycytidylate deaminase domain. Deoxycytidylate deaminase catalyzes the deamination of dCMP to dUMP, providing the nucleotide substrate for thymidylate synthase. The enzyme binds Zn++, which is required for catalytic activity. The activity of the ...

    3. NM_001351744.2 → NP_001338673.1  deoxycytidylate deaminase isoform b

      Status: REVIEWED

      Source sequence(s)
      AC079766, AK310788, BC088357, BM970269, CB127285, DA478550, L12136
      Consensus CDS
      CCDS3831.1
      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
      Conserved Domains (1) summary
      cd01286
      Location:17 → 138
      deoxycytidylate_deaminase; Deoxycytidylate deaminase domain. Deoxycytidylate deaminase catalyzes the deamination of dCMP to dUMP, providing the nucleotide substrate for thymidylate synthase. The enzyme binds Zn++, which is required for catalytic activity. The activity of the ...

    4. NM_001351745.2 → NP_001338674.1  deoxycytidylate deaminase isoform b

      Status: REVIEWED

      Source sequence(s)
      AC079766, BM970269, BQ431673, BU188090, CX869988, L12136
      Consensus CDS
      CCDS3831.1
      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
      Conserved Domains (1) summary
      cd01286
      Location:17 → 138
      deoxycytidylate_deaminase; Deoxycytidylate deaminase domain. Deoxycytidylate deaminase catalyzes the deamination of dCMP to dUMP, providing the nucleotide substrate for thymidylate synthase. The enzyme binds Zn++, which is required for catalytic activity. The activity of the ...

    5. NM_001351747.2 → NP_001338676.1  deoxycytidylate deaminase isoform b

      Status: REVIEWED

      Source sequence(s)
      AC079766, AK310788, BC088357, BM554139, BM970269, BQ431673, CR998876, L12136
      Consensus CDS
      CCDS3831.1
      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
      Conserved Domains (1) summary
      cd01286
      Location:17 → 138
      deoxycytidylate_deaminase; Deoxycytidylate deaminase domain. Deoxycytidylate deaminase catalyzes the deamination of dCMP to dUMP, providing the nucleotide substrate for thymidylate synthase. The enzyme binds Zn++, which is required for catalytic activity. The activity of the ...

    6. NM_001351748.2 → NP_001338677.1  deoxycytidylate deaminase isoform b

      Status: REVIEWED

      Source sequence(s)
      BC088357, BI544512, BM970269, CX869988, L12136
      Consensus CDS
      CCDS3831.1
      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
      Conserved Domains (1) summary
      cd01286
      Location:17 → 138
      deoxycytidylate_deaminase; Deoxycytidylate deaminase domain. Deoxycytidylate deaminase catalyzes the deamination of dCMP to dUMP, providing the nucleotide substrate for thymidylate synthase. The enzyme binds Zn++, which is required for catalytic activity. The activity of the ...

    7. NM_001351750.2 → NP_001338679.1  deoxycytidylate deaminase isoform b

      Status: REVIEWED

      Source sequence(s)
      BI669414, BM970269, BU188090, CX869988, L12136
      Consensus CDS
      CCDS3831.1
      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
      Related
      ENSP00000424017.1, ENST00000510370.5
      Conserved Domains (1) summary
      cd01286
      Location:17 → 138
      deoxycytidylate_deaminase; Deoxycytidylate deaminase domain. Deoxycytidylate deaminase catalyzes the deamination of dCMP to dUMP, providing the nucleotide substrate for thymidylate synthase. The enzyme binds Zn++, which is required for catalytic activity. The activity of the ...

    8. NM_001351753.2 → NP_001338682.1  deoxycytidylate deaminase isoform b

      Status: REVIEWED

      Source sequence(s)
      AK310788, BC088357, BG702996, BM970269, DC358949, L12136
      Consensus CDS
      CCDS3831.1
      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
      Conserved Domains (1) summary
      cd01286
      Location:17 → 138
      deoxycytidylate_deaminase; Deoxycytidylate deaminase domain. Deoxycytidylate deaminase catalyzes the deamination of dCMP to dUMP, providing the nucleotide substrate for thymidylate synthase. The enzyme binds Zn++, which is required for catalytic activity. The activity of the ...

    9. NM_001921.3 → NP_001912.2  deoxycytidylate deaminase isoform b

      See identical proteins and their annotated locations for NP_001912.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 through 9 encode the same isoform (9).
      Source sequence(s)
      AC079766, BC001286, BQ228061, BU188090
      Consensus CDS
      CCDS3831.1
      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
      Related
      ENSP00000398194.2, ENST00000438320.7
      Conserved Domains (1) summary
      cd01286
      Location:17 → 138
      deoxycytidylate_deaminase; Deoxycytidylate deaminase domain. Deoxycytidylate deaminase catalyzes the deamination of dCMP to dUMP, providing the nucleotide substrate for thymidylate synthase. The enzyme binds Zn++, which is required for catalytic activity. The activity of the ...

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      182890091..182917611 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262778.4 → XP_005262835.1  deoxycytidylate deaminase isoform X1

      UniProtKB/TrEMBL
      D6RBJ9
      Conserved Domains (1) summary
      cd01286
      Location:28 → 149
      deoxycytidylate_deaminase; Deoxycytidylate deaminase domain. Deoxycytidylate deaminase catalyzes the deamination of dCMP to dUMP, providing the nucleotide substrate for thymidylate synthase. The enzyme binds Zn++, which is required for catalytic activity. The activity of the ...

    2. XM_017007820.3 → XP_016863309.1  deoxycytidylate deaminase isoform X2

      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
      Conserved Domains (1) summary
      cd01286
      Location:17 → 138
      deoxycytidylate_deaminase; Deoxycytidylate deaminase domain. Deoxycytidylate deaminase catalyzes the deamination of dCMP to dUMP, providing the nucleotide substrate for thymidylate synthase. The enzyme binds Zn++, which is required for catalytic activity. The activity of the ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      186233649..186261170 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349069.1 → XP_054205044.1  deoxycytidylate deaminase isoform X1

      UniProtKB/TrEMBL
      D6RBJ9

    2. XM_054349070.1 → XP_054205045.1  deoxycytidylate deaminase isoform X2

      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P32321.2 GenPept UniProtKB/Swiss-Prot:P32321

    Gene LinkOut

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