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    CDADC1 cytidine and dCMP deaminase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 81602, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CDADC1provided by HGNC
    Official Full Name
    cytidine and dCMP deaminase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:20299
    See related
    Ensembl:ENSG00000102543 MIM:618997; AllianceGenome:HGNC:20299
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NYD-SP15; bA103J18.1
    Summary
    Enables several functions, including cytidine deaminase activity; importin-alpha family protein binding activity; and protein homodimerization activity. Involved in DNA cytosine deamination and cytidine deamination. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in thyroid (RPKM 5.8), testis (RPKM 5.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDADC1 in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (49247925..49293485)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (48469229..48514699)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (49822061..49867621)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370203 Neighboring gene THAP domain containing 12 pseudogene 10 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:49821922-49822484 Neighboring gene Sharpr-MPRA regulatory region 13963 Neighboring gene Sharpr-MPRA regulatory region 6847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:49880333-49880832 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:49888093-49889292 Neighboring gene calcium binding protein 39 like Neighboring gene NANOG hESC enhancer GRCh37_chr13:49961302-49961803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7746 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:50018017-50018789 Neighboring gene SETDB2-PHF11 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:50018790-50019563 Neighboring gene SET domain bifurcated histone lysine methyltransferase 2 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 14

    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 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. Structural and biological function of NYD-SP15 as a new member of cytidine deaminases. Xu Y, et al. Gene, 2016 May 25. PMID 26945630
    2. NYD-SP15: a novel gene potentially involved in regulating testicular development and spermatogenesis. Liu Q, et al. Biochem Genet, 2006 Oct. PMID 16955368
    3. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article
    4. The p300/YY1/miR-500a-5p/HDAC2 signalling axis regulates cell proliferation in human colorectal cancer. Tang W, et al. Nat Commun, 2019 Feb 8. PMID 30737378, Free PMC Article
    5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Boldt K, et al. Nat Commun, 2016 May 13. PMID 27173435, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NYD-SP15 contained nuclear localization sequence and nuclear export-signal and could dynamically shuttle between the nucleus and cytoplasm.
      Title: Structural and biological function of NYD-SP15 as a new member of cytidine deaminases.
    2. NYD-SP15 protein plays an important role in testicular development and spermatogenesis
      Title: NYD-SP15: a novel gene potentially involved in regulating testicular development and spermatogenesis.
    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC41774, MGC57136, MGC150615

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytidine deaminase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables dCMP deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables importin-alpha family protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA cytosine deamination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytidine deamination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytidine deamination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cytidine and dCMP deaminase domain-containing protein 1
    Names
    cytidine deaminase
    protein kinase NYD-SP15
    testis development protein NYD-SP15
    NP_001180407.1
    NP_112173.1
    XP_006719934.1
    XP_011533552.1
    XP_011533553.1
    XP_047286645.1
    XP_047286646.1
    XP_047286648.1
    XP_054231027.1
    XP_054231028.1
    XP_054231029.1
    XP_054231030.1
    XP_054231031.1
    XP_054231032.1

    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_001193478.2 → NP_001180407.1  cytidine and dCMP deaminase domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the last splice junction compared to variant 1. The resulting isoform (2) is shorter than isoform 1 at the C-terminus.
      Source sequence(s)
      BC048092, BC125203, DA400049
      UniProtKB/TrEMBL
      B2R742
      Conserved Domains (2) summary
      cd01286
      Location:319 → 454
      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 ...
      cl00269
      Location:79 → 151
      cytidine_deaminase-like; Cytidine and deoxycytidylate deaminase zinc-binding region. The family contains cytidine deaminases, nucleoside deaminases, deoxycytidylate deaminases and riboflavin deaminases. Also included are the apoBec family of mRNA editing enzymes. All members ...

    2. NM_030911.4 → NP_112173.1  cytidine and dCMP deaminase domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_112173.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC048092, BC125202, DA400049
      Consensus CDS
      CCDS9415.1
      UniProtKB/Swiss-Prot
      Q49A08, Q4G119, Q5TAW9, Q7Z764, Q9BWV3, Q9NT36
      UniProtKB/TrEMBL
      B2R742
      Related
      ENSP00000251108.6, ENST00000251108.10
      Conserved Domains (2) summary
      cd01286
      Location:319 → 454
      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 ...
      cl00269
      Location:79 → 151
      cytidine_deaminase-like; Cytidine and deoxycytidylate deaminase zinc-binding region. The family contains cytidine deaminases, nucleoside deaminases, deoxycytidylate deaminases and riboflavin deaminases. Also included are the apoBec family of mRNA editing enzymes. All members ...

    RNA

    1. NR_036439.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the CDS, resulting in a premature stop codon, compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate and does not encode a functional protein.
      Source sequence(s)
      AK297400, BC048092, BC125202, DA400049

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      49247925..49293485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535251.2 → XP_011533553.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X5

      See identical proteins and their annotated locations for XP_011533553.1

      UniProtKB/TrEMBL
      B2R742
      Conserved Domains (2) summary
      cd01286
      Location:274 → 409
      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 ...
      cl00269
      Location:34 → 106
      cytidine_deaminase-like; Cytidine and deoxycytidylate deaminase zinc-binding region. The family contains cytidine deaminases, nucleoside deaminases, deoxycytidylate deaminases and riboflavin deaminases. Also included are the apoBec family of mRNA editing enzymes. All members ...

    2. XM_011535250.3 → XP_011533552.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      B2R742
      Conserved Domains (2) summary
      cd01286
      Location:333 → 468
      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 ...
      cl00269
      Location:93 → 165
      cytidine_deaminase-like; Cytidine and deoxycytidylate deaminase zinc-binding region. The family contains cytidine deaminases, nucleoside deaminases, deoxycytidylate deaminases and riboflavin deaminases. Also included are the apoBec family of mRNA editing enzymes. All members ...

    3. XM_047430689.1 → XP_047286645.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X2

    4. XM_047430692.1 → XP_047286648.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X4

    5. XM_006719871.4 → XP_006719934.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      B4DMC8
      Conserved Domains (1) summary
      cd01286
      Location:180 → 315
      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. XM_047430690.1 → XP_047286646.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      48469229..48514699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375057.1 → XP_054231032.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X5

    2. XM_054375052.1 → XP_054231027.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X1

    3. XM_054375053.1 → XP_054231028.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X2

    4. XM_054375056.1 → XP_054231031.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X4

    5. XM_054375054.1 → XP_054231029.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X3

    6. XM_054375055.1 → XP_054231030.1  cytidine and dCMP deaminase domain-containing protein 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BWV3.1 GenPept UniProtKB/Swiss-Prot:Q9BWV3

    Gene LinkOut

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

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