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DCTD dCMP deaminase [ Homo sapiens (human) ]

Gene ID: 1635, updated on 11-Apr-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
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Genomic context

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Location:
4q35.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (182890091..182917611, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (186233649..186261170, complement)
105.20220307 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

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. 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
  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. 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
  4. Properties of an affinity-column-purified human deoxycytidylate deaminase. Maley GF, et al. Biochim Biophys Acta, 1993 Mar 5. PMID 8448179
  5. An association between RRM1 haplotype and gemcitabine-induced neutropenia in breast cancer patients. Rha SY, et al. Oncologist, 2007 Jun. PMID 17602053

See all (32) 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)

Genotypes

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 dCMP deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dCMP deaminase activity IEA
Inferred from Electronic Annotation
more info
  
enables deoxyribonucleoside 5'-monophosphate N-glycosidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 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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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_2023_10

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

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

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

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