DMC1
Meiotic recombination protein DMC1/LIM15 homolog
Also known as: DMC1_HUMAN, LIM15
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14565
- Gene
- DMC1
- Ensembl
- ENSG00000100206
- Chromosome
- 22
- Canonical length
- 340 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homooctamer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
340 residues, UniProt reviewed canonical sequence.
>Q14565|DMC1
1 MKEDQVVAEE PGFQDEEESL FQDIDLLQKH GINVADIKKL KSVGICTIKG IQMTTRRALC
61 NVKGLSEAKV DKIKEAANKL IEPGFLTAFE YSEKRKMVFH ITTGSQEFDK LLGGGIESMA
121 ITEAFGEFRT GKTQLSHTLC VTAQLPGAGG YPGGKIIFID TENTFRPDRL RDIADRFNVD
181 HDAVLDNVLY ARAYTSEHQM ELLDYVAAKF HEEAGIFKLL IIDSIMALFR VDFSGRGELA
241 ERQQKLAQML SRLQKISEEY NVAVFVTNQM TADPGATMTF QADPKKPIGG HILAHASTTR
301 ISLRKGRGEL RIAKIYDSPE MPENEATFAI TAGGIGDAKELocalizationUniProt · AlphaFold · HPA
Whether an antibody against DMC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 11 nTPM
Expression across tissuesHPA
Tissue
- testis: 11 nTPM
- thymus: 3 nTPM
- tonsil: 2.8 nTPM
- lymph node: 2.5 nTPM
- endometrium: 2.2 nTPM
- heart muscle: 2.1 nTPM
Single-cell type
- early primary spermatocytes: 270 nCPM
- megakaryocyte progenitors: 25 nCPM
- erythrocyte progenitors: 25 nCPM
- differentiating spermatogonia: 25 nCPM
- megakaryocyte-erythroid progenitors: 14 nCPM
- neutrophil progenitors: 11 nCPM
Immune cell
- gdT-cell: 0.2 nTPM
- memory CD4 T-cell: 0.2 nTPM
- NK-cell: 0.2 nTPM
- basophil: 0.1 nTPM
- memory CD8 T-cell: 0.1 nTPM
- myeloid DC: 0.1 nTPM
Brain region
- cerebellum: 2.3 nTPM
- pons: 1.9 nTPM
- basal ganglia: 1.6 nTPM
- cerebral cortex: 1.6 nTPM
- medulla oblongata: 1.5 nTPM
- white matter: 1.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DMC1.
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 44 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.77
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.27
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromosome organization involved in meiotic cell cycle
- DNA recombinase assembly
- DNA strand invasion
- double-strand break repair involved in meiotic recombination
- female gamete generation
- homologous chromosome pairing at meiosis
- male meiosis I
- meiotic cell cycle
- mitotic recombination
- oocyte maturation
- ovarian follicle development
- reciprocal meiotic recombination
- spermatid development
- spermatogenesis
Molecular functions
- ATP binding
- ATP-dependent activity, acting on DNA
- ATP-dependent DNA damage sensor activity
- DNA binding
- DNA strand exchange activity
- double-stranded DNA binding
- identical protein binding
- single-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- AAA+ ATPase domain
- DNA repair Rad51/transcription factor NusA, alpha-helical
- Rad51-like, C-terminal
- DNA recombination and repair protein, RecA-like
- DNA recombination and repair protein RecA, monomer-monomer interface
- DNA recombination and repair protein RecA-like, ATP-binding domain
- P-loop containing nucleoside triphosphate hydrolase
- Rad51
- Helix-hairpin-helix domain
- Meiotic recombination protein Dmc1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DMC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DMC1 as an antibody target. Whether an autoantibody or antibody against DMC1 could matter depends on whether native DMC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DMC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DMC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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