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    DCLRE1C DNA cross-link repair 1C [ Homo sapiens (human) ]

    Gene ID: 64421, updated on 5-Feb-2017
    Official Symbol
    DCLRE1Cprovided by HGNC
    Official Full Name
    DNA cross-link repair 1Cprovided by HGNC
    Primary source
    HGNC:HGNC:17642
    See related
    Ensembl:ENSG00000152457 MIM:605988; Vega:OTTHUMG00000017716
    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
    Also known as
    SCIDA; SNM1C; A-SCID; RS-SCID; DCLREC1C
    Summary
    This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Orthologs
    Location:
    10p13
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (14897853..14954432, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (14948870..14996106, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cerebral dopamine neurotrophic factor Neighboring gene zinc finger and SCAN domain containing 29 pseudogene Neighboring gene heat shock protein family A (Hsp70) member 14 Neighboring gene suppressor of variegation 3-9 homolog 2 Neighboring gene uncharacterized LOC105376430 Neighboring gene meiosis/spermiogenesis associated 1 Neighboring gene olfactory receptor family 7 subfamily E member 110 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • ATM Signaling Network in Development and Disease, organism-specific biosystem (from WikiPathways)
      ATM Signaling Network in Development and Disease, organism-specific biosystemThis pathway is modeled after Figure 4 in the article "The ATM signaling network in development and disease" (See Bibliography). When DNA is damaged, DDR begins to work on recuperating the damage th...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Non-homologous end-joining, organism-specific biosystem (from KEGG)
      Non-homologous end-joining, organism-specific biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
    • Non-homologous end-joining, conserved biosystem (from KEGG)
      Non-homologous end-joining, conserved biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
    • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
      Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
    • Primary immunodeficiency, organism-specific biosystem (from KEGG)
      Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Primary immunodeficiency, conserved biosystem (from KEGG)
      Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ11360, FLJ36438

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    5'-3' exodeoxyribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    5'-3' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    endonuclease activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded DNA endodeoxyribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    V(D)J recombination IEA
    Inferred from Electronic Annotation
    more info
     
    adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair via nonhomologous end joining IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    double-strand break repair via nonhomologous end joining TAS
    Traceable Author Statement
    more info
     
    interstrand cross-link repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleic acid phosphodiester bond hydrolysis IEA
    Inferred from Electronic Annotation
    more info
     
    protection from non-homologous end joining at telomere IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    nonhomologous end joining complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome, telomeric region IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    protein artemis
    Names
    DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)
    SNM1 homolog C
    SNM1-like protein
    severe combined immunodeficiency, type a (Athabascan)
    NP_001029027.1
    NP_001029029.1
    NP_001029030.1
    NP_001276005.1
    NP_001276006.1
    NP_001276007.1
    NP_001276008.1
    NP_071932.2

    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.

    Genomic

    1. NG_007276.1 RefSeqGene

      Range
      4664..54225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_54

    mRNA and Protein(s)

    1. NM_001033855.2NP_001029027.1  protein artemis isoform a

      See identical proteins and their annotated locations for NP_001029027.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) encodes the longest isoform (a).
      Source sequence(s)
      AJ296101, AL360083, AW954867, BQ932042
      Consensus CDS
      CCDS31149.1
      UniProtKB/Swiss-Prot
      Q96SD1
      Related
      ENSP00000367527, OTTHUMP00000019174, ENST00000378278, OTTHUMT00000046934
      Conserved Domains (2) summary
      pfam07522
      Location:239343
      DRMBL; DNA repair metallo-beta-lactamase
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    2. NM_001033857.2NP_001029029.1  protein artemis isoform c

      See identical proteins and their annotated locations for NP_001029029.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d, also called V1) contains an alternate exon in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant a. It encodes isoform c, which has a shorter N-terminus than isoform a. Variants c, d, f, and h encode the same isoform (c).
      Source sequence(s)
      AF395747, AK021422, AL360083, BQ932042
      Consensus CDS
      CCDS31150.1
      UniProtKB/Swiss-Prot
      Q96SD1
      Related
      ENSP00000367506, OTTHUMP00000019172, ENST00000378258, OTTHUMT00000046932
      Conserved Domains (2) summary
      pfam07522
      Location:119223
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:151
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    3. NM_001033858.2NP_001029030.1  protein artemis isoform c

      See identical proteins and their annotated locations for NP_001029030.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c, also called V5) contains two alternate exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant a. It encodes isoform c, which has a shorter N-terminus than isoform a. Variants c, d, f, and h encode the same isoform (c).
      Source sequence(s)
      AF395751, AK022922, AL360083, BQ932042
      Consensus CDS
      CCDS31150.1
      UniProtKB/Swiss-Prot
      Q96SD1
      UniProtKB/TrEMBL
      B3KMX5
      Related
      ENSP00000380030, OTTHUMP00000019169, ENST00000396817, OTTHUMT00000046929
      Conserved Domains (2) summary
      pfam07522
      Location:119223
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:151
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    4. NM_001289076.1NP_001276005.1  protein artemis isoform b

      See identical proteins and their annotated locations for NP_001276005.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) lacks two exons in the 5' coding region and intiates translation at an alternate downstream start codon, compared to variant a. It encodes isoform b, which has a shorter and distinct N-terminus compared to variant a. Variants b, e, and g encode the same isoform (b).
      Source sequence(s)
      AL360083, BC009185, BQ932042
      Consensus CDS
      CCDS7105.1
      UniProtKB/Swiss-Prot
      Q96SD1
      Related
      ENSP00000350349, OTTHUMP00000019167, ENST00000357717, OTTHUMT00000046927
      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:756
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    5. NM_001289077.1NP_001276006.1  protein artemis isoform c

      See identical proteins and their annotated locations for NP_001276006.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (f, also called V2) contains an alternate exon in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant a. It encodes isoform c, which has a shorter N-terminus than isoform a. Variants c, d, f, and h encode the same isoform (c).
      Source sequence(s)
      AF395748, AL360083, BQ932042
      Consensus CDS
      CCDS31150.1
      UniProtKB/Swiss-Prot
      Q96SD1
      Related
      ENSP00000367502, OTTHUMP00000019171, ENST00000378254, OTTHUMT00000046931
      Conserved Domains (2) summary
      pfam07522
      Location:119223
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:151
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    6. NM_001289078.1NP_001276007.1  protein artemis isoform b

      See identical proteins and their annotated locations for NP_001276007.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (g, also called V4) lacks two exons in the 5' coding region and intiates translation at an alternate downstream start codon, compared to variant a. It encodes isoform b, which has a shorter and distinct N-terminus compared to variant a. Variants b, e, and g encode the same isoform (b).
      Source sequence(s)
      AF395750, AL360083, BQ932042
      Consensus CDS
      CCDS7105.1
      UniProtKB/Swiss-Prot
      Q96SD1
      Related
      ENSP00000367496, OTTHUMP00000019168, ENST00000378249, OTTHUMT00000046928
      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:756
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    7. NM_001289079.1NP_001276008.1  protein artemis isoform c

      See identical proteins and their annotated locations for NP_001276008.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (h, also called V6) contains two alternate exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant a. It encodes isoform c, which has a shorter N-terminus than isoform a. Variants c, d, f, and h encode the same isoform (c).
      Source sequence(s)
      AF395752, AL360083, BQ932042
      Consensus CDS
      CCDS31150.1
      UniProtKB/Swiss-Prot
      Q96SD1
      Related
      ENSP00000367503, OTTHUMP00000019170, ENST00000378255, OTTHUMT00000046930
      Conserved Domains (2) summary
      pfam07522
      Location:119223
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:151
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    8. NM_022487.3NP_071932.2  protein artemis isoform b

      See identical proteins and their annotated locations for NP_071932.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b, also called V3) lacks an exon in the 5' coding region and initiates translation at an alternate downstream start codon, compared to variant a. It encodes isoform b, which has a shorter and distinct N-terminus compared to variant a. Variants b, e, and g encode the same isoform (b).
      Source sequence(s)
      AK021422, AL360083, BE799340, BQ932042
      Consensus CDS
      CCDS7105.1
      UniProtKB/Swiss-Prot
      Q96SD1
      Related
      ENSP00000367492, OTTHUMP00000019166, ENST00000378246, OTTHUMT00000046926
      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:756
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

    RNA

    1. NR_110297.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (i) contains three alternate internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL360083, BC108276, BQ932042

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      14897853..14954432 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016560.1XP_016872049.1  

    2. XM_017016556.1XP_016872045.1  

    3. XM_017016559.1XP_016872048.1  

    4. XM_011519616.1XP_011517918.1  

      See identical proteins and their annotated locations for XP_011517918.1

      UniProtKB/Swiss-Prot
      Q96SD1
      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:756
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    5. XM_011519617.1XP_011517919.1  

      See identical proteins and their annotated locations for XP_011517919.1

      UniProtKB/Swiss-Prot
      Q96SD1
      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:756
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    6. XM_017016557.1XP_016872046.1  

      UniProtKB/Swiss-Prot
      Q96SD1
      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:756
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    7. XM_017016558.1XP_016872047.1  

      UniProtKB/Swiss-Prot
      Q96SD1
      Conserved Domains (2) summary
      pfam07522
      Location:119223
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:151
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    8. XM_011519619.1XP_011517921.1  

      See identical proteins and their annotated locations for XP_011517921.1

      UniProtKB/Swiss-Prot
      Q96SD1
      Conserved Domains (2) summary
      pfam07522
      Location:119223
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:151
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    9. XM_006717491.3XP_006717554.1  

      See identical proteins and their annotated locations for XP_006717554.1

      UniProtKB/Swiss-Prot
      Q96SD1
      Conserved Domains (2) summary
      pfam07522
      Location:124228
      DRMBL; DNA repair metallo-beta-lactamase
      cl23716
      Location:756
      metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
    10. XM_011519620.2XP_011517922.1  

      Related
      ENSP00000367538, OTTHUMP00000019173, ENST00000378289, OTTHUMT00000046933
      Conserved Domains (2) summary
      pfam07522
      Location:239343
      DRMBL; DNA repair metallo-beta-lactamase
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    11. XM_011519621.1XP_011517923.1  

      Conserved Domains (2) summary
      pfam07522
      Location:239308
      DRMBL; DNA repair metallo-beta-lactamase
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain

    RNA

    1. XR_001747186.1 RNA Sequence

    2. XR_001747185.1 RNA Sequence

    3. XR_242702.3 RNA Sequence

    4. XR_001747187.1 RNA Sequence

    5. XR_001747188.1 RNA Sequence

    6. XR_930515.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      14946730..14996567 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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