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] See more...

Aliases for DCLRE1A Gene

Aliases for DCLRE1A Gene

  • DNA Cross-Link Repair 1A 2 3 5
  • DNA Cross-Link Repair 1A Protein 3 4
  • SNM1 Homolog A 3 4
  • SNM1A 3 4
  • SNM1 3 4
  • DNA Cross-Link Repair 1A (PSO2 Homolog, S. Cerevisiae) 2
  • DNA-Crosslink Repair Gene SNM1 3
  • PSO2 Homolog (S. Cerevisiae) 2
  • KIAA0086 4
  • HSNM1A 4
  • HSNM1 4
  • PSO2 3

External Ids for DCLRE1A Gene

Previous GeneCards Identifiers for DCLRE1A Gene

  • GC10M114501
  • GC10M114828
  • GC10M115725
  • GC10M115259
  • GC10M115584
  • GC10M109221

Summaries for DCLRE1A Gene

Entrez Gene Summary for DCLRE1A Gene

  • 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]

GeneCards Summary for DCLRE1A Gene

DCLRE1A (DNA Cross-Link Repair 1A) is a Protein Coding gene. Diseases associated with DCLRE1A include Interstitial Nephritis, Karyomegalic and Fanconi Anemia, Complementation Group A. Among its related pathways are Chks in Checkpoint Regulation and Fanconi anemia pathway. Gene Ontology (GO) annotations related to this gene include 5'-3' exodeoxyribonuclease activity. An important paralog of this gene is DCLRE1B.

UniProtKB/Swiss-Prot Summary for DCLRE1A Gene

  • May be required for DNA interstrand cross-link repair. Also required for checkpoint mediated cell cycle arrest in early prophase in response to mitotic spindle poisons.

Gene Wiki entry for DCLRE1A Gene

Additional gene information for DCLRE1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DCLRE1A Gene

Genomics for DCLRE1A Gene

GeneHancer (GH) Regulatory Elements for DCLRE1A Gene

Promoters and enhancers for DCLRE1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J113851 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 508.9 +0.3 303 6.6 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A TCF12 POLR2G NCOR1 GTF2E2 PHF8 DCLRE1A NHLRC2 lnc-NRAP-4 TCF7L2 ENSG00000212589
GH10J113844 Enhancer 0.6 ENCODE 0.4 +10.1 10111 0.3 NFIC NFE2 TAL1 SCRT1 FEZF1 POLR2A MAFF TEAD4 MYC MAX TDRD1 DCLRE1A lnc-NRAP-4 ENSG00000212589
GH10J113849 Enhancer 0.5 Ensembl 0.4 +6.4 6402 3 ZNF316 ZBTB33 MAFK MLLT1 PRDM1 EMSY DCLRE1A lnc-NRAP-4 ENSG00000212589
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DCLRE1A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DCLRE1A

Top Transcription factor binding sites by QIAGEN in the DCLRE1A gene promoter:
  • AML1a
  • ATF6
  • CREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • HSF2
  • p53

Genomic Locations for DCLRE1A Gene

Genomic Locations for DCLRE1A Gene
chr10:113,834,724-113,854,404
(GRCh38/hg38)
Size:
19,681 bases
Orientation:
Minus strand
chr10:115,594,484-115,614,142
(GRCh37/hg19)
Size:
19,659 bases
Orientation:
Minus strand

Genomic View for DCLRE1A Gene

Genes around DCLRE1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCLRE1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCLRE1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCLRE1A Gene

Proteins for DCLRE1A Gene

  • Protein details for DCLRE1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PJP8-DCR1A_HUMAN
    Recommended name:
    DNA cross-link repair 1A protein
    Protein Accession:
    Q6PJP8
    Secondary Accessions:
    • D3DRC1
    • Q14701
    • Q6P5Y3
    • Q6PKL4

    Protein attributes for DCLRE1A Gene

    Size:
    1040 amino acids
    Molecular mass:
    116400 Da
    Quaternary structure:
    • Binds constitutively to TP53BP1. Binds CDC27, which is itself a component of the anaphase promoting complex (APC). Binds PIAS1.
    SequenceCaution:
    • Sequence=BAA07646.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DCLRE1A Gene

neXtProt entry for DCLRE1A Gene

Post-translational modifications for DCLRE1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DCLRE1A Gene

No data available for DME Specific Peptides for DCLRE1A Gene

Domains & Families for DCLRE1A Gene

Gene Families for DCLRE1A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DCLRE1A Gene

Suggested Antigen Peptide Sequences for DCLRE1A Gene

GenScript: Design optimal peptide antigens:
  • SNM1 homolog A (DCR1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PJP8

UniProtKB/Swiss-Prot:

DCR1A_HUMAN :
  • Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family.
Family:
  • Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family.
genes like me logo Genes that share domains with DCLRE1A: view

Function for DCLRE1A Gene

Molecular function for DCLRE1A Gene

UniProtKB/Swiss-Prot Function:
May be required for DNA interstrand cross-link repair. Also required for checkpoint mediated cell cycle arrest in early prophase in response to mitotic spindle poisons.
UniProtKB/Swiss-Prot Induction:
During mitosis. The mRNA encoding this protein contains an internal ribosome entry site (IRES) in its 5'-UTR. This 5'-UTR generally suppresses translation while specifically promoting expression during mitosis, when cap-dependent translation may be impaired.

Phenotypes From GWAS Catalog for DCLRE1A Gene

Gene Ontology (GO) - Molecular Function for DCLRE1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding IBA 21873635
GO:0035312 5'-3' exodeoxyribonuclease activity IDA 22692201
genes like me logo Genes that share ontologies with DCLRE1A: view
genes like me logo Genes that share phenotypes with DCLRE1A: view

Animal Models for DCLRE1A Gene

MGI Knock Outs for DCLRE1A:

Animal Model Products

CRISPR Products

miRNA for DCLRE1A Gene

miRTarBase miRNAs that target DCLRE1A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCLRE1A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DCLRE1A Gene

Localization for DCLRE1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCLRE1A Gene

Nucleus. Note=In some cells it may be found in typically 1 or 2 discrete nuclear aggregates of unknown function which also contain TP53BP1. Also found in multiple discrete nuclear foci which increase in number following treatment with ionizing radiation or interstrand cross-linking agents. These foci overlap with those formed by the MRN complex (composed of MRE11, RAD50 and NBN) and BRCA1.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DCLRE1A gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCLRE1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IBA 21873635
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with DCLRE1A: view

Pathways & Interactions for DCLRE1A Gene

PathCards logo

SuperPathways for DCLRE1A Gene

SuperPathway Contained pathways
1 Chks in Checkpoint Regulation
.32
2 DNA Double-Strand Break Repair
3 Fanconi anemia pathway
genes like me logo Genes that share pathways with DCLRE1A: view

Pathways by source for DCLRE1A Gene

2 Reactome pathways for DCLRE1A Gene
1 Qiagen pathway for DCLRE1A Gene
  • DNA Repair Mechanisms

Gene Ontology (GO) - Biological Process for DCLRE1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006303 double-strand break repair via nonhomologous end joining IBA 21873635
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
GO:0031848 protection from non-homologous end joining at telomere IBA 21873635
genes like me logo Genes that share ontologies with DCLRE1A: view

No data available for SIGNOR curated interactions for DCLRE1A Gene

Drugs & Compounds for DCLRE1A Gene

No Compound Related Data Available

Transcripts for DCLRE1A Gene

mRNA/cDNA for DCLRE1A Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCLRE1A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DCLRE1A Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -

Relevant External Links for DCLRE1A Gene

GeneLoc Exon Structure for
DCLRE1A

Expression for DCLRE1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DCLRE1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DCLRE1A Gene

This gene is overexpressed in Pancreas (45.1) and Plasma (19.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DCLRE1A Gene



Protein tissue co-expression partners for DCLRE1A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DCLRE1A

SOURCE GeneReport for Unigene cluster for DCLRE1A Gene:

Hs.1560

mRNA Expression by UniProt/SwissProt for DCLRE1A Gene:

Q6PJP8-DCR1A_HUMAN
Tissue specificity: Expressed in brain, heart, kidney, liver, pancreas, placenta and skeletal muscle.

Evidence on tissue expression from TISSUES for DCLRE1A Gene

  • Bone marrow(4.2)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with DCLRE1A: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DCLRE1A Gene

Orthologs for DCLRE1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DCLRE1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCLRE1A 31 30
  • 99.2 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DCLRE1A 31 30
  • 83.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DCLRE1A 31 30
  • 82.56 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dclre1a 17 31 30
  • 73.16 (n)
rat
(Rattus norvegicus)
Mammalia Dclre1a 30
  • 71.57 (n)
oppossum
(Monodelphis domestica)
Mammalia DCLRE1A 31
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DCLRE1A 31
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves DCLRE1A 31 30
  • 60.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCLRE1A 31
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dclre1a 30
  • 56.94 (n)
Str.16944 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25638 30
zebrafish
(Danio rerio)
Actinopterygii dclre1a 31 30
  • 53.03 (n)
OneToOne
wufc49f05 30
fruit fly
(Drosophila melanogaster)
Insecta Snm1 32
  • 37 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSO2 33 31
  • 21 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SNM1 30
  • 52.55 (n)
rice
(Oryza sativa)
Liliopsida Os04g0401800 30
  • 48.48 (n)
Species where no ortholog for DCLRE1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DCLRE1A Gene

ENSEMBL:
Gene Tree for DCLRE1A (if available)
TreeFam:
Gene Tree for DCLRE1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DCLRE1A: view image

Paralogs for DCLRE1A Gene

Paralogs for DCLRE1A Gene

genes like me logo Genes that share paralogs with DCLRE1A: view

Variants for DCLRE1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DCLRE1A Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs11196530 - p.Ile859Phe
rs17228665 - p.Glu59Asp
rs17228672 - p.Gly71Asp
rs17235066 - p.Lys58Glu
rs17235094 - p.Pro287Leu

Additional dbSNP identifiers (rs#s) for DCLRE1A Gene

Structural Variations from Database of Genomic Variants (DGV) for DCLRE1A Gene

Variant ID Type Subtype PubMed ID
nsv507578 OTHER sequence alteration 20534489
nsv7211 OTHER inversion 18451855
nsv831995 CNV gain+loss 17160897

Variation tolerance for DCLRE1A Gene

Residual Variation Intolerance Score: 70.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.35; 53.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCLRE1A Gene

Human Gene Mutation Database (HGMD)
DCLRE1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCLRE1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCLRE1A Gene

Disorders for DCLRE1A Gene

MalaCards: The human disease database

(3) MalaCards diseases for DCLRE1A Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DCLRE1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DCLRE1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DCLRE1A Gene

Publications for DCLRE1A Gene

  1. The hSNM1 protein is a DNA 5'-exonuclease. (PMID: 17804464) Hejna J … Moses R (Nucleic acids research 2007) 2 3 23 54
  2. hSnm1 colocalizes and physically associates with 53BP1 before and after DNA damage. (PMID: 12446782) Richie CT … Legerski RJ (Molecular and cellular biology 2002) 3 4 23 54
  3. Disruption of mouse SNM1 causes increased sensitivity to the DNA interstrand cross-linking agent mitomycin C. (PMID: 10848582) Dronkert ML … Kanaar R (Molecular and cellular biology 2000) 3 4 23 54
  4. Genomic organization of a potential human DNA-crosslink repair gene, KIAA0086. (PMID: 9806498) Demuth I … Digweed M (Mutation research 1998) 2 3 23 54
  5. Mammalian SNM1 is required for genome stability. (PMID: 18180189) Hemphill AW … Moses RE (Molecular genetics and metabolism 2008) 3 23 54

Products for DCLRE1A Gene

Sources for DCLRE1A Gene