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

Gene ID: 64421, updated on 7-Apr-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
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Genomic context

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)
NP_001029027.1
NP_001029029.1
NP_001029030.1
NP_001276005.1
NP_001276006.1
NP_001276007.1
NP_001276008.1
NP_001337894.1
NP_001337895.1
NP_001337896.1
NP_071932.2
XP_011517922.1
XP_011517923.1
XP_047281604.1
XP_047281605.1
XP_047281606.1
XP_047281607.1
XP_047281608.1
XP_054222566.1
XP_054222567.1
XP_054222568.1
XP_054222569.1
XP_054222570.1
XP_054222571.1
XP_054222572.1

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