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

Gene ID: 64421, updated on 25-Apr-2020

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
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

Genomic context

See DCLRE1C in Genome Data Viewer
Location:
10p13
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (14897359..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 Neighboring gene heat shock protein family A (Hsp70) member 14 Neighboring gene suppressor of variegation 3-9 homolog 2 Neighboring gene meiosis/spermiogenesis associated 1 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

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
PubMed 
5'-3' exonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
damaged DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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_006717554.1
XP_011517918.1
XP_011517919.1
XP_011517921.1
XP_011517922.1
XP_011517923.1
XP_016872046.1
XP_016872047.1
XP_024303902.1
XP_024303903.1

NCBI Reference Sequences (RefSeq)

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
    Q96SD1
    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/Swiss-Prot
    Q96SD1
    Related
    ENSP00000367506.1, ENST00000378258.5
    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/Swiss-Prot
    Q96SD1
    UniProtKB/TrEMBL
    B3KMX5
    Related
    ENSP00000380030.2, ENST00000396817.6
    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/Swiss-Prot
    Q96SD1
    Related
    ENSP00000350349.2, ENST00000357717.6
    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/Swiss-Prot
    Q96SD1
    Related
    ENSP00000367502.1, ENST00000378254.5
    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/Swiss-Prot
    Q96SD1
    Related
    ENSP00000367496.1, ENST00000378249.5
    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/Swiss-Prot
    Q96SD1
    Related
    ENSP00000367503.1, ENST00000378255.5
    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
    Conserved Domains (2) summary
    cd16297
    Location:1171
    artemis-SNM1C-like_MBL-fold; artemis-SNM1C and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:239343
    DRMBL; DNA repair metallo-beta-lactamase
  9. NM_001350966.2NP_001337895.1  protein artemis isoform e

    Status: REVIEWED

    Source sequence(s)
    AC069544, AJ296101, AL360083, BC022254, BM987109, BQ932042, EL735962
    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
    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/Swiss-Prot
    Q96SD1
    Related
    ENSP00000367492.2, ENST00000378246.6
    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
  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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024448135.1XP_024303903.1  protein artemis isoform X3

    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
  2. XM_024448134.1XP_024303902.1  protein artemis isoform X2

    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. XM_011519616.1XP_011517918.1  protein artemis isoform X1

    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
  4. XM_011519617.1XP_011517919.1  protein artemis isoform X1

    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
  5. XM_017016557.1XP_016872046.1  protein artemis isoform X1

    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_017016558.1XP_016872047.1  protein artemis isoform X2

    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
  7. XM_011519619.1XP_011517921.1  protein artemis isoform X2

    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
  8. XM_006717491.4XP_006717554.1  protein artemis isoform X1

    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
  9. XM_011519620.3XP_011517922.1  protein artemis isoform X4

    Related
    ENSP00000367538.4, ENST00000378289.8
    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
  10. XM_011519621.2XP_011517923.1  protein artemis isoform X5

    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_001747185.2 RNA Sequence

  2. XR_001747187.1 RNA Sequence

  3. XR_930515.2 RNA Sequence

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