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    DMC1 DNA meiotic recombinase 1 [ Homo sapiens (human) ]

    Gene ID: 11144, updated on 7-Apr-2024

    Summary

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    Official Symbol
    DMC1provided by HGNC
    Official Full Name
    DNA meiotic recombinase 1provided by HGNC
    Primary source
    HGNC:HGNC:2927
    See related
    Ensembl:ENSG00000100206 MIM:602721; AllianceGenome:HGNC:2927
    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
    DMC1H; LIM15; dJ199H16.1
    Summary
    This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
    Expression
    Biased expression in testis (RPKM 4.8), lymph node (RPKM 0.7) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DMC1 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38509147..38570183, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38973412..39034483, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38914953..38966188, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38857412-38857912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38859483-38859982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38861409-38861910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13720 Neighboring gene KDEL endoplasmic reticulum protein retention receptor 3 Neighboring gene DEAD-box helicase 17 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38901381-38902272 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38902273-38903164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38908748-38909556 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1887 Neighboring gene MPRA-validated peak4491 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13723 Neighboring gene uncharacterized LOC105373031 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38966777-38967287 Neighboring gene ribosomal protein S29 pseudogene 31

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A pathogenic DMC1 frameshift mutation causes nonobstructive azoospermia but not primary ovarian insufficiency in humans. Cao D, et al. Mol Hum Reprod, 2021 Sep 1. PMID 34515795
    2. DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing. He WB, et al. J Med Genet, 2018 Mar. PMID 29331980
    3. Tolerance of DNA Mismatches in Dmc1 Recombinase-mediated DNA Strand Exchange. Borgogno MV, et al. J Biol Chem, 2016 Mar 4. PMID 26709229, Free PMC Article
    4. Structure of a filament of stacked octamers of human DMC1 recombinase. Du L, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2013 Apr 1. PMID 23545642, Free PMC Article
    5. Mutations in DMC1 are not responsible for premature ovarian failure in Chinese women. Wang H, et al. Reprod Biomed Online, 2013 Feb. PMID 23265958

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Positive and negative regulators of RAD51/DMC1 in homologous recombination and DNA replication.
      Title: Positive and negative regulators of RAD51/DMC1 in homologous recombination and DNA replication.
    2. FIGNL1 AAA+ ATPase remodels RAD51 and DMC1 filaments in pre-meiotic DNA replication and meiotic recombination.
      Title: FIGNL1 AAA+ ATPase remodels RAD51 and DMC1 filaments in pre-meiotic DNA replication and meiotic recombination.
    3. Can PCNA and LIM15 gene expression levels predict sperm retrieval success in men with non-obstructive azoospermia?
      Title: Can PCNA and LIM15 gene expression levels predict sperm retrieval success in men with non-obstructive azoospermia?
    4. MiR-4284 inhibits sensitivity to paclitaxel in human ovarian carcinoma SKOV3ip1 and HeyA8 cells by targeting DMC1.
      Title: MiR-4284 inhibits sensitivity to paclitaxel in human ovarian carcinoma SKOV3ip1 and HeyA8 cells by targeting DMC1.
    5. Recent advances in functional conservation and divergence of recombinase RAD51 and DMC1.
      Title: Recent advances in functional conservation and divergence of recombinase RAD51 and DMC1.
    6. A pathogenic DMC1 frameshift mutation causes nonobstructive azoospermia but not primary ovarian insufficiency in humans.
      Title: A pathogenic DMC1 frameshift mutation causes nonobstructive azoospermia but not primary ovarian insufficiency in humans.
    7. Mechanisms of distinctive mismatch tolerance between Rad51 and Dmc1 in homologous recombination.
      Title: Mechanisms of distinctive mismatch tolerance between Rad51 and Dmc1 in homologous recombination.
    8. Identification of fidelity-governing factors in human recombinases DMC1 and RAD51 from cryo-EM structures.
      Title: Identification of fidelity-governing factors in human recombinases DMC1 and RAD51 from cryo-EM structures.
    9. To the best of our knowledge, this is the first report identifying DMC1 as the causative gene for human non-obstructive azoospermia and premature ovarian insufficiency.
      Title: DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing.
    10. In this study, we created a mouse model of a putative infertility allele, DMC1M200V. DMC1 encodes a RecA homolog essential for meiotic recombination and fertility in mice..we found that Dmc1M200V/M200V male and female mice are fully fertile and do not exhibit any gonadal abnormalities
      Title: A putative human infertility allele of the meiotic recombinase DMC1 does not affect fertility in mice.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (DMC1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC150472, MGC150473

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent activity, acting on DNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP-dependent activity, acting on DNA IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA strand exchange activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA recombinase assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA strand invasion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromosome organization involved in meiotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair involved in meiotic recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in female gamete generation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in homologous chromosome pairing at meiosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male meiosis I IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in meiotic cell cycle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in oocyte maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in reciprocal meiotic recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in chromosome, telomeric region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in condensed nuclear chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lateral element IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in site of double-strand break IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    meiotic recombination protein DMC1/LIM15 homolog
    Names
    DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination
    disrupted meiotic cDNA1, yeast, homolog of

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_017203.2 RefSeqGene

      Range
      5000..56235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278208.2 → NP_001265137.1  meiotic recombination protein DMC1/LIM15 homolog isoform 2

      See identical proteins and their annotated locations for NP_001265137.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks two alternate in-frame exons in the coding region compared to variant 1. The resulting protein (isoform 2) lacks an internal portion compared to isoform 1. Variants 2 and 4 encode the same protein.
      Source sequence(s)
      AK297664, AL022320, BM843634, DB517711, EL953686
      Consensus CDS
      CCDS63477.1
      UniProtKB/Swiss-Prot
      Q14565
      Related
      ENSP00000412703.2, ENST00000428462.6
      Conserved Domains (1) summary
      TIGR02238
      Location:24 → 283
      recomb_DMC1; meiotic recombinase Dmc1

    2. NM_001363017.2 → NP_001349946.1  meiotic recombination protein DMC1/LIM15 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons in the coding region compared to variant 1. The resulting protein (isoform 2) lacks an internal portion compared to isoform 1. Variants 2 and 4 encode the same protein.
      Source sequence(s)
      AL022320
      Consensus CDS
      CCDS63477.1
      Conserved Domains (1) summary
      TIGR02238
      Location:24 → 283
      recomb_DMC1; meiotic recombinase Dmc1

    3. NM_007068.4 → NP_008999.2  meiotic recombination protein DMC1/LIM15 homolog isoform 1

      See identical proteins and their annotated locations for NP_008999.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK292617, AL022320, DB517711
      Consensus CDS
      CCDS13973.1
      UniProtKB/Swiss-Prot
      A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11
      Related
      ENSP00000216024.2, ENST00000216024.7
      Conserved Domains (1) summary
      TIGR02238
      Location:24 → 338
      recomb_DMC1; meiotic recombinase Dmc1

    RNA

    1. NR_103474.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
      Source sequence(s)
      AK292617, AL022320, BG959880
      Related
      ENST00000464842.1

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      38509147..38570183 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529835.3 → XP_011528137.1  meiotic recombination protein DMC1/LIM15 homolog isoform X1

      See identical proteins and their annotated locations for XP_011528137.1

      Conserved Domains (3) summary
      TIGR02238
      Location:24 → 329
      recomb_DMC1; meiotic recombinase Dmc1
      cd01123
      Location:101 → 317
      Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
      pfam14520
      Location:25 → 79
      HHH_5; Helix-hairpin-helix domain

    2. XM_011529838.2 → XP_011528140.1  meiotic recombination protein DMC1/LIM15 homolog isoform X4

      Conserved Domains (3) summary
      TIGR02238
      Location:24 → 260
      recomb_DMC1; meiotic recombinase Dmc1
      cd01123
      Location:101 → 248
      Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
      pfam14520
      Location:25 → 79
      HHH_5; Helix-hairpin-helix domain

    3. XM_011529837.3 → XP_011528139.1  meiotic recombination protein DMC1/LIM15 homolog isoform X3

      Conserved Domains (3) summary
      TIGR02238
      Location:24 → 274
      recomb_DMC1; meiotic recombinase Dmc1
      cd01123
      Location:101 → 262
      Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
      pfam14520
      Location:25 → 79
      HHH_5; Helix-hairpin-helix domain

    4. XM_011529834.3 → XP_011528136.1  meiotic recombination protein DMC1/LIM15 homolog isoform X1

      See identical proteins and their annotated locations for XP_011528136.1

      Conserved Domains (3) summary
      TIGR02238
      Location:24 → 329
      recomb_DMC1; meiotic recombinase Dmc1
      cd01123
      Location:101 → 317
      Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
      pfam14520
      Location:25 → 79
      HHH_5; Helix-hairpin-helix domain

    5. XM_047441079.1 → XP_047297035.1  meiotic recombination protein DMC1/LIM15 homolog isoform X3

    6. XM_047441075.1 → XP_047297031.1  meiotic recombination protein DMC1/LIM15 homolog isoform X1

    7. XM_047441084.1 → XP_047297040.1  meiotic recombination protein DMC1/LIM15 homolog isoform X6

    8. XM_047441082.1 → XP_047297038.1  meiotic recombination protein DMC1/LIM15 homolog isoform X5

    9. XM_047441078.1 → XP_047297034.1  meiotic recombination protein DMC1/LIM15 homolog isoform X2

      UniProtKB/Swiss-Prot
      A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11

    10. XM_047441081.1 → XP_047297037.1  meiotic recombination protein DMC1/LIM15 homolog isoform X5

    11. XM_047441077.1 → XP_047297033.1  meiotic recombination protein DMC1/LIM15 homolog isoform X2

      UniProtKB/Swiss-Prot
      A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11

    12. XM_017028542.3 → XP_016884031.1  meiotic recombination protein DMC1/LIM15 homolog isoform X6

      Conserved Domains (1) summary
      TIGR02238
      Location:24 → 269
      recomb_DMC1; meiotic recombinase Dmc1

    13. XM_047441083.1 → XP_047297039.1  meiotic recombination protein DMC1/LIM15 homolog isoform X6

    14. XM_047441080.1 → XP_047297036.1  meiotic recombination protein DMC1/LIM15 homolog isoform X5

    15. XM_047441076.1 → XP_047297032.1  meiotic recombination protein DMC1/LIM15 homolog isoform X2

      UniProtKB/Swiss-Prot
      A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      38973412..39034483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324998.1 → XP_054180973.1  meiotic recombination protein DMC1/LIM15 homolog isoform X1

    2. XM_054325004.1 → XP_054180979.1  meiotic recombination protein DMC1/LIM15 homolog isoform X4

    3. XM_054325002.1 → XP_054180977.1  meiotic recombination protein DMC1/LIM15 homolog isoform X3

    4. XM_054324996.1 → XP_054180971.1  meiotic recombination protein DMC1/LIM15 homolog isoform X1

    5. XM_054325003.1 → XP_054180978.1  meiotic recombination protein DMC1/LIM15 homolog isoform X3

    6. XM_054324997.1 → XP_054180972.1  meiotic recombination protein DMC1/LIM15 homolog isoform X1

    7. XM_054325001.1 → XP_054180976.1  meiotic recombination protein DMC1/LIM15 homolog isoform X2

      UniProtKB/Swiss-Prot
      A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11

    8. XM_054325000.1 → XP_054180975.1  meiotic recombination protein DMC1/LIM15 homolog isoform X2

      UniProtKB/Swiss-Prot
      A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11

    9. XM_054325010.1 → XP_054180985.1  meiotic recombination protein DMC1/LIM15 homolog isoform X6

    10. XM_054325007.1 → XP_054180982.1  meiotic recombination protein DMC1/LIM15 homolog isoform X5

    11. XM_054325006.1 → XP_054180981.1  meiotic recombination protein DMC1/LIM15 homolog isoform X5

    12. XM_054325008.1 → XP_054180983.1  meiotic recombination protein DMC1/LIM15 homolog isoform X6

    13. XM_054325009.1 → XP_054180984.1  meiotic recombination protein DMC1/LIM15 homolog isoform X6

    14. XM_054325005.1 → XP_054180980.1  meiotic recombination protein DMC1/LIM15 homolog isoform X5

    15. XM_054324999.1 → XP_054180974.1  meiotic recombination protein DMC1/LIM15 homolog isoform X2

      UniProtKB/Swiss-Prot
      A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14565.2 GenPept UniProtKB/Swiss-Prot:Q14565

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