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

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; 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

Location:: 22q13.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (38509147..38570183, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (38973412..39034483, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (38914953..38966188, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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?
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.
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.
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.
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.
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.
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.
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)

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

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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

AL021666 (e-PCR)
- UniSTS:22544

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:481978

D22S451 (e-PCR)
- UniSTS:148709

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 nucleoplasm	TAS Traceable Author Statement 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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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

NG_017203.2 RefSeqGene

Range

5000..56235

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

38509147..38570183 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
XM_047441079.1 → XP_047297035.1 meiotic recombination protein DMC1/LIM15 homolog isoform X3
XM_047441075.1 → XP_047297031.1 meiotic recombination protein DMC1/LIM15 homolog isoform X1
XM_047441084.1 → XP_047297040.1 meiotic recombination protein DMC1/LIM15 homolog isoform X6
XM_047441082.1 → XP_047297038.1 meiotic recombination protein DMC1/LIM15 homolog isoform X5
XM_047441078.1 → XP_047297034.1 meiotic recombination protein DMC1/LIM15 homolog isoform X2

UniProtKB/Swiss-Prot

A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11
XM_047441081.1 → XP_047297037.1 meiotic recombination protein DMC1/LIM15 homolog isoform X5
XM_047441077.1 → XP_047297033.1 meiotic recombination protein DMC1/LIM15 homolog isoform X2

UniProtKB/Swiss-Prot

A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11
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
XM_047441083.1 → XP_047297039.1 meiotic recombination protein DMC1/LIM15 homolog isoform X6
XM_047441080.1 → XP_047297036.1 meiotic recombination protein DMC1/LIM15 homolog isoform X5
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

NC_060946.1 Alternate T2T-CHM13v2.0

Range

38973412..39034483 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324998.1 → XP_054180973.1 meiotic recombination protein DMC1/LIM15 homolog isoform X1
XM_054325004.1 → XP_054180979.1 meiotic recombination protein DMC1/LIM15 homolog isoform X4
XM_054325002.1 → XP_054180977.1 meiotic recombination protein DMC1/LIM15 homolog isoform X3
XM_054324996.1 → XP_054180971.1 meiotic recombination protein DMC1/LIM15 homolog isoform X1
XM_054325003.1 → XP_054180978.1 meiotic recombination protein DMC1/LIM15 homolog isoform X3
XM_054324997.1 → XP_054180972.1 meiotic recombination protein DMC1/LIM15 homolog isoform X1
XM_054325001.1 → XP_054180976.1 meiotic recombination protein DMC1/LIM15 homolog isoform X2

UniProtKB/Swiss-Prot

A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11
XM_054325000.1 → XP_054180975.1 meiotic recombination protein DMC1/LIM15 homolog isoform X2

UniProtKB/Swiss-Prot

A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11
XM_054325010.1 → XP_054180985.1 meiotic recombination protein DMC1/LIM15 homolog isoform X6
XM_054325007.1 → XP_054180982.1 meiotic recombination protein DMC1/LIM15 homolog isoform X5
XM_054325006.1 → XP_054180981.1 meiotic recombination protein DMC1/LIM15 homolog isoform X5
XM_054325008.1 → XP_054180983.1 meiotic recombination protein DMC1/LIM15 homolog isoform X6
XM_054325009.1 → XP_054180984.1 meiotic recombination protein DMC1/LIM15 homolog isoform X6
XM_054325005.1 → XP_054180980.1 meiotic recombination protein DMC1/LIM15 homolog isoform X5
XM_054324999.1 → XP_054180974.1 meiotic recombination protein DMC1/LIM15 homolog isoform X2

UniProtKB/Swiss-Prot

A8K9A2, B4DMW6, Q08AI1, Q14565, Q99498, Q9UH11