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DCLRE1A DNA cross-link repair 1A [ Homo sapiens (human) ]

Gene ID: 9937, updated on 15-Apr-2019

Summary

Official Symbol
DCLRE1Aprovided by HGNC
Official Full Name
DNA cross-link repair 1Aprovided by HGNC
Primary source
HGNC:HGNC:17660
See related
Ensembl:ENSG00000198924 MIM:609682
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
PSO2; SNM1; SNM1A
Summary
This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Expression
Ubiquitous expression in thyroid (RPKM 3.4), testis (RPKM 3.3) and 25 other tissues See more
Orthologs

Genomic context

See DCLRE1A in Genome Data Viewer
Location:
10q25.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (113834724..113854404, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (115594483..115614163, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene caspase 7 Neighboring gene pleckstrin homology domain containing S1 Neighboring gene microRNA 4483 Neighboring gene uncharacterized LOC107984271 Neighboring gene NHL repeat containing 2 Neighboring gene uncharacterized LOC105378492

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...
  • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ97135, KIAA0086

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' exodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
damaged DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division 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 
interstrand cross-link repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interstrand cross-link repair TAS
Traceable Author Statement
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
PubMed 
Component Evidence Code Pubs
fibrillar center IDA
Inferred from Direct Assay
more info
 
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
DNA cross-link repair 1A protein
Names
DNA-crosslink repair gene SNM1
SNM1 homolog A

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.

mRNA and Protein(s)

  1. NM_001271816.1NP_001258745.1  DNA cross-link repair 1A protein

    See identical proteins and their annotated locations for NP_001258745.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    D42045, DB224073, H98725
    Consensus CDS
    CCDS7584.1
    UniProtKB/Swiss-Prot
    Q6PJP8
    Related
    ENSP00000358311.1, ENST00000369305.1
    Conserved Domains (2) summary
    cd16298
    Location:689844
    SNM1A-like_MBL-fold; 5'-exonucleases human SNM1A and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:9141019
    DRMBL; DNA repair metallo-beta-lactamase
  2. NM_014881.5NP_055696.3  DNA cross-link repair 1A protein

    See identical proteins and their annotated locations for NP_055696.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    D42045
    Consensus CDS
    CCDS7584.1
    UniProtKB/Swiss-Prot
    Q6PJP8
    Related
    ENSP00000355185.2, ENST00000361384.7
    Conserved Domains (2) summary
    cd16298
    Location:689844
    SNM1A-like_MBL-fold; 5'-exonucleases human SNM1A and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:9141019
    DRMBL; DNA repair metallo-beta-lactamase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    113834724..113854404 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540429.1XP_011538731.1  DNA cross-link repair 1A protein isoform X1

    See identical proteins and their annotated locations for XP_011538731.1

    UniProtKB/Swiss-Prot
    Q6PJP8
    Conserved Domains (2) summary
    cd16298
    Location:689844
    SNM1A-like_MBL-fold; 5'-exonucleases human SNM1A and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:9141019
    DRMBL; DNA repair metallo-beta-lactamase
  2. XM_006718090.1XP_006718153.1  DNA cross-link repair 1A protein isoform X1

    See identical proteins and their annotated locations for XP_006718153.1

    UniProtKB/Swiss-Prot
    Q6PJP8
    Conserved Domains (2) summary
    cd16298
    Location:689844
    SNM1A-like_MBL-fold; 5'-exonucleases human SNM1A and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:9141019
    DRMBL; DNA repair metallo-beta-lactamase
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