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DCLRE1B DNA cross-link repair 1B [ Homo sapiens (human) ]

Gene ID: 64858, updated on 11-Jun-2021

Summary

Official Symbol
DCLRE1Bprovided by HGNC
Official Full Name
DNA cross-link repair 1Bprovided by HGNC
Primary source
HGNC:HGNC:17641
See related
Ensembl:ENSG00000118655 MIM:609683
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
SNM1B; SNMIB; APOLLO
Summary
DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 3.3), appendix (RPKM 3.2) and 25 other tissues See more
Orthologs
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Genomic context

See DCLRE1B in Genome Data Viewer
Location:
1p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (113904619..113914086)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (114447241..114456708)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene AP4B1 antisense RNA 1 Neighboring gene protein tyrosine phosphatase non-receptor type 22 Neighboring gene BCL2 like 15 Neighboring gene adaptor related protein complex 4 subunit beta 1 Neighboring gene GATA motif-containing MPRA enhancer 196 Neighboring gene HIPK1 antisense RNA 1 Neighboring gene homeodomain interacting protein kinase 1

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?

Phenotypes

Associated conditions

Description Tests
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ12810, FLJ13998, DKFZp686C24187

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 5'-3' exodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in double-strand break repair via nonhomologous end joining IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in interstrand cross-link repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in interstrand cross-link repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in protection from non-homologous end joining at telomere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protection from non-homologous end joining at telomere IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in telomere capping IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in telomere maintenance via telomere lengthening IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in telomeric 3' overhang formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in telomeric loop formation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromosome, telomeric region HDA PubMed 
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
5' exonuclease Apollo
Names
DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)
PSO2 homolog
SNM1 homolog B

NCBI Reference Sequences (RefSeq)

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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_057565.1 RefSeqGene

    Range
    5708..14468
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1219

mRNA and Protein(s)

  1. NM_001319946.2NP_001306875.1  5' exonuclease Apollo isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate 5' exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AI669133, CR936679, DR005221
    Conserved Domains (3) summary
    cd11662
    Location:370403
    apollo_TRF2_binding; TRF2-binding region of apollo and similar proteins
    pfam07522
    Location:90173
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:125
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
  2. NM_001319947.2NP_001306876.1  5' exonuclease Apollo isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
    Source sequence(s)
    AI669133, BC029687, DA414122
    UniProtKB/Swiss-Prot
    Q9H816
    Conserved Domains (3) summary
    cd11662
    Location:370403
    apollo_TRF2_binding; TRF2-binding region of apollo and similar proteins
    pfam07522
    Location:90173
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:125
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
  3. NM_001363690.2NP_001350619.1  5' exonuclease Apollo isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) includes alternate splicing in the 3' coding region, which results in a frameshift compared to variant 1. The encoded isoform (c) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL137856
    Conserved Domains (2) summary
    cd16273
    Location:6151
    SNM1A-1C-like_MBL-fold; SNM1A , artemis/SNM1C, yeast Pso2p, and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:216299
    DRMBL; DNA repair metallo-beta-lactamase
  4. NM_001363691.2NP_001350620.1  5' exonuclease Apollo isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' and 3' coding regions, compared to variant 1. The encoded isoform (d) has a shorter N-terminus and a shorter distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AF306691, AI669133, AL137856
    Conserved Domains (2) summary
    pfam07522
    Location:90173
    DRMBL; DNA repair metallo-beta-lactamase
    cl23716
    Location:125
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain
  5. NM_022836.4NP_073747.1  5' exonuclease Apollo isoform a

    See identical proteins and their annotated locations for NP_073747.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AI669133, BC029687, DR005221
    Consensus CDS
    CCDS866.1
    UniProtKB/Swiss-Prot
    Q9H816
    Related
    ENSP00000498042.1, ENST00000650450.2
    Conserved Domains (3) summary
    cd11662
    Location:496529
    apollo_TRF2_binding; TRF2-binding region of apollo and similar proteins
    cd16273
    Location:6151
    SNM1A-1C-like_MBL-fold; SNM1A , artemis/SNM1C, yeast Pso2p, and related proteins; MBL-fold metallo-hydrolase domain
    pfam07522
    Location:216299
    DRMBL; DNA repair metallo-beta-lactamase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    113904619..113914086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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