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    DCTD dCMP deaminase [ Homo sapiens (human) ]

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

    Summary

    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
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    Genomic context

    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

    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?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC111062

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5-hydroxymethyl-dUMP N-hydrolase activity PubMed 
    enables dCMP deaminase activity  
    enables identical protein binding PubMed 
    enables protein binding PubMed 
    enables zinc ion binding  
    Process Evidence Code Pubs
    involved_in cytidine deamination  
    involved_in dTMP biosynthetic process  
    involved_in dUMP biosynthetic process  
    involved_in nucleoside salvage PubMed 
    involved_in nucleotide biosynthetic process  
    involved_in pyrimidine nucleotide metabolic process  
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in cytosol  

    General protein information

    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)

    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_001012732.2NP_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:28149
      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_001351743.2NP_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:17138
      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_001351744.2NP_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:17138
      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_001351745.2NP_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:17138
      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_001351747.2NP_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:17138
      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_001351748.2NP_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:17138
      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_001351750.2NP_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:17138
      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_001351753.2NP_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:17138
      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_001921.3NP_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:17138
      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_005262778.4XP_005262835.1  deoxycytidylate deaminase isoform X1

      UniProtKB/TrEMBL
      D6RBJ9
      Conserved Domains (1) summary
      cd01286
      Location:28149
      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_017007820.3XP_016863309.1  deoxycytidylate deaminase isoform X2

      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
      Conserved Domains (1) summary
      cd01286
      Location:17138
      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_054349069.1XP_054205044.1  deoxycytidylate deaminase isoform X1

      UniProtKB/TrEMBL
      D6RBJ9
    2. XM_054349070.1XP_054205045.1  deoxycytidylate deaminase isoform X2

      UniProtKB/Swiss-Prot
      B2R836, D3DP49, D3DP50, P32321, Q5M7Z8, Q9BVD8
      UniProtKB/TrEMBL
      D6RBJ9
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