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

Gene ID: 11144, updated on 9-Dec-2018

Summary

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
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

Genomic context

See DMC1 in Genome Data Viewer
Location:
22q13.1
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (38509154..38570286, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38914954..38966201, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373029 Neighboring gene potassium voltage-gated channel subfamily J member 4 Neighboring gene KDEL endoplasmic reticulum protein retention receptor 3 Neighboring gene DEAD-box helicase 17 Neighboring gene uncharacterized LOC105373031 Neighboring gene ribosomal protein S29 pseudogene 31

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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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 BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic recombination, organism-specific biosystem (from REACTOME)
    Meiotic recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
  • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
    Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC150472, MGC150473

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-dependent ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
recombinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA recombinase assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
female gamete generation TAS
Traceable Author Statement
more info
PubMed 
male meiosis I IEA
Inferred from Electronic Annotation
more info
 
meiotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
mitotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oocyte maturation IEA
Inferred from Electronic Annotation
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis TAS
Traceable Author Statement
more info
PubMed 
strand invasion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapsis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromosome ISS
Inferred from Sequence or Structural Similarity
more info
 
chromosome, telomeric region IEA
Inferred from Electronic Annotation
more info
 
condensed nuclear chromosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_017203.1 RefSeqGene

    Range
    4989..56236
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278208.1NP_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, BM843634, DB517711, EL953686
    Consensus CDS
    CCDS63477.1
    UniProtKB/Swiss-Prot
    Q14565
    Related
    ENSP00000412703.2, ENST00000428462.6
    Conserved Domains (1) summary
    cl26757
    Location:24283
    Rad51; Rad51
  2. NM_001363017.1NP_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
    cl26757
    Location:24283
    Rad51; Rad51
  3. NM_007068.4NP_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
    Q14565
    Related
    ENSP00000216024.2, ENST00000216024.6
    Conserved Domains (1) summary
    TIGR02238
    Location:24338
    recomb_DMC1; meiotic recombinase Dmc1

RNA

  1. NR_103474.1 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, BG959880
    Related
    ENST00000464842.1

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_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    38509154..38570286 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529838.1XP_011528140.1  meiotic recombination protein DMC1/LIM15 homolog isoform X3

    Conserved Domains (3) summary
    TIGR02238
    Location:24260
    recomb_DMC1; meiotic recombinase Dmc1
    cd01123
    Location:101248
    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:2579
    HHH_5; Helix-hairpin-helix domain
  2. XM_011529835.2XP_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:24329
    recomb_DMC1; meiotic recombinase Dmc1
    cd01123
    Location:101317
    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:2579
    HHH_5; Helix-hairpin-helix domain
  3. XM_011529837.2XP_011528139.1  meiotic recombination protein DMC1/LIM15 homolog isoform X2

    Conserved Domains (3) summary
    TIGR02238
    Location:24274
    recomb_DMC1; meiotic recombinase Dmc1
    cd01123
    Location:101262
    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:2579
    HHH_5; Helix-hairpin-helix domain
  4. XM_011529834.2XP_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:24329
    recomb_DMC1; meiotic recombinase Dmc1
    cd01123
    Location:101317
    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:2579
    HHH_5; Helix-hairpin-helix domain
  5. XM_006724112.3XP_006724175.1  meiotic recombination protein DMC1/LIM15 homolog isoform X4

    UniProtKB/Swiss-Prot
    Q14565
    Conserved Domains (1) summary
    cl26757
    Location:24283
    Rad51; Rad51
  6. XM_017028542.2XP_016884031.1  meiotic recombination protein DMC1/LIM15 homolog isoform X5

    Conserved Domains (1) summary
    cl26757
    Location:24269
    Rad51; Rad51
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