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

    Gene ID: 9937, updated on 2-May-2024

    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; AllianceGenome:HGNC:17660
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    10q25.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (113834725..113854394, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (114726307..114745963, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (115594484..115614153, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing S1 Neighboring gene microRNA 4483 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:115580091-115580590 Neighboring gene small nucleolar RNA SNORA17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2838 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:115614900-115615604 Neighboring gene uncharacterized LOC124902506 Neighboring gene NHL repeat containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4073 Neighboring gene uncharacterized LOC124902507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:115718423-115718923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4074

    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

    • FLJ97135, KIAA0086

    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' DNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables beta-lactamase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cell division 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 interstrand cross-link repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in 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
    beta-lactamase DCLRE1A
    NP_001258745.1
    NP_055696.3
    XP_006718153.1
    XP_011538731.1
    XP_054223311.1
    XP_054223312.1

    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.

    mRNA and Protein(s)

    1. NM_001271816.2NP_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
      Consensus CDS
      CCDS7584.1
      UniProtKB/Swiss-Prot
      D3DRC1, Q14701, Q6P5Y3, Q6PJP8, Q6PKL4
      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
      D3DRC1, Q14701, Q6P5Y3, Q6PJP8, Q6PKL4
      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: 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
      113834725..113854394 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540429.2XP_011538731.1  DNA cross-link repair 1A protein isoform X1

      See identical proteins and their annotated locations for XP_011538731.1

      UniProtKB/Swiss-Prot
      D3DRC1, Q14701, Q6P5Y3, Q6PJP8, Q6PKL4
      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_006718090.2XP_006718153.1  DNA cross-link repair 1A protein isoform X1

      See identical proteins and their annotated locations for XP_006718153.1

      UniProtKB/Swiss-Prot
      D3DRC1, Q14701, Q6P5Y3, Q6PJP8, Q6PKL4
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      114726307..114745963 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367336.1XP_054223311.1  DNA cross-link repair 1A protein isoform X1

    2. XM_054367337.1XP_054223312.1  DNA cross-link repair 1A protein isoform X1