DCTD dCMP deaminase [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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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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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-106469 (e-PCR)
- UniSTS:183816

SHGC-59529 (e-PCR)
- UniSTS:31884

SHGC-12416 (e-PCR)
- UniSTS:53730

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

EC 3.5.4.12

NP_001338672.1

EC 3.5.4.12

NP_001338673.1

EC 3.5.4.12

NP_001338674.1

EC 3.5.4.12

NP_001338676.1

EC 3.5.4.12

NP_001338677.1

EC 3.5.4.12

NP_001338679.1

EC 3.5.4.12

NP_001338682.1

EC 3.5.4.12

NP_001912.2

EC 3.5.4.12

XP_005262835.1

EC 3.5.4.12

XP_016863309.1

EC 3.5.4.12

XP_054205044.1

EC 3.5.4.12

XP_054205045.1

EC 3.5.4.12

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)

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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

182890091..182917611 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...