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

    Gene ID: 64421, updated on 22-May-2024

    Summary

    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; AllianceGenome:HGNC:17642
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 3.7), spleen (RPKM 2.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DCLRE1C in Genome Data Viewer
    Location:
    10p13
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (14897359..14954432, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (14911323..14968389, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (14939358..14996431, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3085 Neighboring gene Myb/SANT DNA binding domain containing 7 Neighboring gene heat shock protein family A (Hsp70) member 14 Neighboring gene SUV39H2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2164 Neighboring gene SUV39H2 histone lysine methyltransferase Neighboring gene NANOG hESC enhancer GRCh37_chr10:14946352-14947052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3087 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:14994732-14995460 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:14995461-14996188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2166 Neighboring gene meiosis/spermiogenesis associated 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:15033655-15034186 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:15034187-15034717 Neighboring gene olfactory receptor family 7 subfamily E member 110 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 26 pseudogene

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11360, FLJ36438

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5'-3' DNA exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 5'-3' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables endonuclease activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA endodeoxyribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in V(D)J recombination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair via nonhomologous end joining IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in double-strand break repair via nonhomologous end joining TAS
    Traceable Author Statement
    more info
     
    involved_in interstrand cross-link repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in telomere maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    part_of nonhomologous end joining complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    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.

    Genomic

    1. NG_007276.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001033855.3NP_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
      D3DRT6, Q1HCL2, Q5JSR4, Q5JSR5, Q5JSR7, Q5JSR8, Q5JSR9, Q5JSS0, Q5JSS7, Q6PK14, Q8N101, Q8N132, Q8TBW9, Q96SD1, Q9BVW9, Q9HAM4
      UniProtKB/TrEMBL
      A0A8V8TM57
      Related
      ENSP00000367527.2, ENST00000378278.7
      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_001033857.3NP_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/TrEMBL
      A8K3I3
      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_001033858.3NP_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/TrEMBL
      A8K3I3
      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_001289076.2NP_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/TrEMBL
      A8K3I3
      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_001289077.2NP_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/TrEMBL
      A8K3I3
      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_001289078.2NP_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/TrEMBL
      A8K3I3
      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_001289079.2NP_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/TrEMBL
      A8K3I3
      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_001350965.2NP_001337894.1  protein artemis isoform d

      Status: REVIEWED

      Source sequence(s)
      AC069544, AJ296101, AL360083, AW954867, BC022254, BM987109, BQ932042
      Consensus CDS
      CCDS91218.1
      UniProtKB/TrEMBL
      A0A8V8TKN9, A0A8V8TM57
      Related
      ENSP00000513066.1, ENST00000697047.1
      Conserved Domains (1) summary
      cd16297
      Location:1171
      artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    9. NM_001350966.2NP_001337895.1  protein artemis isoform e

      Status: REVIEWED

      Source sequence(s)
      AC069544, AJ296101, AL360083, BC022254, BM987109, BQ932042, EL735962
      Consensus CDS
      CCDS91216.1
      UniProtKB/TrEMBL
      A8K3I3
      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. NM_001350967.2NP_001337896.1  protein artemis isoform f

      Status: REVIEWED

      Source sequence(s)
      AC069544, AJ296101, AL360083, AW954867, BC022254, BM987109, DA291339
      UniProtKB/TrEMBL
      A8K3I3
      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
    11. NM_022487.4NP_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/TrEMBL
      A8K3I3
      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_110297.2 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
      Related
      ENST00000378241.6
    2. NR_146960.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC069544, AJ296101, AL360083, BC022254, BF356378, BM987109, BQ932042, DB110328, EL735962
    3. NR_146961.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF395747, AK021422, AL360083, BI494665, BQ708910, BQ932042, DA764814
    4. NR_146962.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AJ296101, AL360083, AW954867, BC067233, BI494665, BQ708910, BQ932042

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      14897359..14954432 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425650.1XP_047281606.1  protein artemis isoform X1

    2. XM_047425648.1XP_047281604.1  protein artemis isoform X1

    3. XM_047425651.1XP_047281607.1  protein artemis isoform X1

    4. XM_047425652.1XP_047281608.1  protein artemis isoform X2

    5. XM_047425649.1XP_047281605.1  protein artemis isoform X1

    6. XM_011519620.4XP_011517922.1  protein artemis isoform X3

      UniProtKB/TrEMBL
      A0A8V8TKH3
      Related
      ENSP00000512999.1, ENST00000492201.6
      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
    7. XM_011519621.3XP_011517923.1  protein artemis isoform X4

      UniProtKB/TrEMBL
      A0A8V8TKH3, A0A8V8TLX1
      Related
      ENSP00000513091.1, ENST00000697076.1
      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_930515.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      14911323..14968389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366596.1XP_054222571.1  protein artemis isoform X3

    2. XM_054366593.1XP_054222568.1  protein artemis isoform X1

    3. XM_054366591.1XP_054222566.1  protein artemis isoform X1

    4. XM_054366594.1XP_054222569.1  protein artemis isoform X1

    5. XM_054366595.1XP_054222570.1  protein artemis isoform X2

    6. XM_054366592.1XP_054222567.1  protein artemis isoform X1

    7. XM_054366597.1XP_054222572.1  protein artemis isoform X4

      UniProtKB/TrEMBL
      A0A8V8TLX1

    RNA

    1. XR_008488251.1 RNA Sequence