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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DMC1 Gene

protein-coding   GIFtS: 62
GCID: GC22M038914

DNA Meiotic Recombinase 1

(Previous names: DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
DNA Meiotic Recombinase 11 2     dJ199H16.12
DMC1H2 3     Disrupted Meiotic CDNA1, Yeast, Homolog Of2
LIM152 3     DMC1 Dosage Suppressor Of Mck1 Homolog, Meiosis-Specific Homologous
Recombination2
DMC1 (Dosage Suppressor Of Mck1, Yeast Homolog) Meiosis-Specific
Homologous Recombination1
     Meiotic Recombination Protein DMC1/LIM15 Homolog2
DMC1 Dosage Suppressor Of Mck1 Homolog, Meiosis-Specific Homologous
Recombination (Yeast)1
     

External Ids:    HGNC: 29271   Entrez Gene: 111442   Ensembl: ENSG000001002067   OMIM: 6027215   UniProtKB: Q145653   
ORGUL members:         
NONCODE14:n342278      

Export aliases for DMC1 gene to outside databases

Previous GC identifers: GC22M035529 GC22M037157 GC22M037239 GC22M021880


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DMC1 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)

GeneCards Summary for DMC1 Gene: 
DMC1 (DNA meiotic recombinase 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with DMC1 include keratoderma, and pterygium, and among its related super-pathways are Meiosis. GO annotations related to this gene include DNA-dependent ATPase activity and ATP binding. An important paralog of this gene is RAD51B.

UniProtKB/Swiss-Prot: DMC1_HUMAN, Q14565
Function: May participate in meiotic recombination, specifically in homologous strand assimilation, which is
required for the resolution of meiotic double-strand breaks (By similarity)

Gene Wiki entry for DMC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DMC1 gene promoter:
         STAT5B   HOXA9B   HOXA9   C/EBPalpha   E2F-1   E2F   Sox9   aMEF-2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDMC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DMC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

DMC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMC1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M038914:  view genomic region     (about GC identifiers)

Start:
38,914,954 bp from pter      End:
38,966,291 bp from pter
Size:
51,338 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DMC1_HUMAN, Q14565 (See protein sequence)
Recommended Name: Meiotic recombination protein DMC1/LIM15 homolog  
Size: 340 amino acids; 37681 Da
Subunit: Interacts with the MND1-PSMC3IP heterodimer (By similarity). Double stacked ring-shaped homooctamer.
Interacts with BRCA2
Subcellular location: Nucleus (Potential). Chromosome (By similarity)
3 PDB 3D structures from and Proteopedia for DMC1:
1V5W (3D)        2ZJB (3D)        4HYY (3D)    
Secondary accessions: A8K9A2 Q08AI1 Q99498 Q9UH11

Explore the universe of human proteins at neXtProt for DMC1: NX_Q14565

Explore proteomics data for DMC1 at MOPED 

DMC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

DMC1 Protein Expression

REFSEQ proteins (2 alternative transcripts): 
NP_001265137.1  NP_008999.2  

ENSEMBL proteins: 
 ENSP00000216024   ENSP00000391385   ENSP00000410808   ENSP00000412703  
Reactome Protein details: Q14565
Human Recombinant Protein Products for DMC1: 
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Novus Biologicals DMC1 Protein
Novus Biologicals DMC1 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for DMC1 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000781chromosome, telomeric region IEA--
GO:0000794condensed nuclear chromosome IEA--
GO:0005634nucleus ----
GO:0005694chromosome ISS--

DMC1 for ontologies           About GeneDecksing



DMC1 Antibody Products: 
EMD Millipore Mono- and Polyclonal Antibodies for the study of DMC1
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Abcam antibodies for DMC1
Cloud-Clone Corp. Antibodies for DMC1 
ThermoFisher Antibody for DMC1
LSBio Antibodies in human, mouse, rat for DMC1 

Assay Products for DMC1: 
Browse Kits and Assays available from EMD Millipore
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GenScript Custom Assay Services for DMC1
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for DMC1 
Cloud-Clone Corp. CLIAs for DMC1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
5/8 InterPro protein domains (see all 8):
 IPR011940 DMC1_rcmbase
 IPR020587 RecA_monomer-monomer_interface
 IPR020588 DNA_recomb_RecA/RadB_ATP-bd
 IPR010995 DNA_repair_Rad51/TF_NusA_a-hlx
 IPR016467 DNA_recomb/repair_RecA-like

Graphical View of Domain Structure for InterPro Entry Q14565

ProtoNet protein and cluster: Q14565

1 Blocks protein domain: IPB013632 Rad51

UniProtKB/Swiss-Prot: DMC1_HUMAN, Q14565
Similarity: Belongs to the RecA family. DMC1 subfamily
Similarity: Contains 1 HhH domain


DMC1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: DMC1_HUMAN, Q14565
Function: May participate in meiotic recombination, specifically in homologous strand assimilation, which is
required for the resolution of meiotic double-strand breaks (By similarity)

     Genatlas biochemistry entry for DMC1:
DMC1,dosage suppressor of MCK1,S cerevisiae homolog,E Coli Rec-A like gene,forming mixed complexes with RAD51
associated with mouse meiotic chromosomes core and synaptonemal complexes,meiosis-specific homologous
recombination gene

     Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000166nucleotide binding ----
GO:0003677DNA binding IEA--
GO:0003697single-stranded DNA binding ----
GO:0003899DNA-directed RNA polymerase activity ----
GO:0005515protein binding IPI17541404
     
DMC1 for ontologies           About GeneDecksing


Phenotypes:
     4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dmc1):
 cellular  endocrine/exocrine gland  homeostasis/metabolism  reproductive system 

DMC1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for DMC1: Dmc1tm1Tkm Dmc1tm1Jcs

   inGenious Targeting Laboratory - Custom generated mouse model solutions for DMC1 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DMC1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DMC1 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DMC1 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DMC1
8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate DMC1 (see all 18):
hsa-miR-548j hsa-miR-548i hsa-miR-3653 hsa-miR-197 hsa-miR-205* hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-548w
SwitchGear 3'UTR luciferase reporter plasmidDMC1 3' UTR sequence
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for DMC1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMC1

Gene Editing
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DNA2.0 Custom Protein Engineering Service for DMC1
Sirion Biotech Customized adenovirus for overexpression of DMC1

Clone
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OriGene clones in human, mouse for DMC1 (see all 6)
OriGene ORF clones in mouse, rat for DMC1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: DMC1 (NM_007068)
Sino Biological Human cDNA Clone for DMC1
DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMC1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMC1
Sirion Biotech Customized lentivirus for stable overexpression of DMC1 
                     Customized lentivirus expression plasmids for stable overexpression of DMC1 

Cell Line
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GenScript Custom overexpressing Cell Line Services for DMC1
Search LifeMap BioReagents cell lines for DMC1
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMC1


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for DMC1 About                                                                                                See pathways by source

SuperPathContained pathways About
1Meiotic Synapsis
Meiosis0.70
Meiotic Recombination0.62
2Ovarian Infertility Genes
Ovarian Infertility Genes
3Meiosis
Meiosis

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for DMC1
    Meiosis


1 BioSystems Pathway for DMC1
    Ovarian Infertility Genes


2        Reactome Pathways for DMC1
    Meiosis
Meiotic Recombination



DMC1 for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DMC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/66 Interacting proteins for DMC1 (Q145652, 3 ENSP000002160244) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
InteractantInteraction Details
GeneCardExternal ID(s)
BRCA2P515872, 3, ENSP000003694974MINT-4980903 MINT-4980810 MINT-4980826 MINT-4980889 MINT-4980429 MINT-4980585 MINT-4980860 MINT-4980408 MINT-4980845 MINT-4980457 MINT-4980775 I2D: score=1 STRING: ENSP00000369497
RAD51Q066092, 3, ENSP000002678684MINT-4980408 I2D: score=3 STRING: ENSP00000267868
MRE11AP499593, ENSP000003258634I2D: score=3 STRING: ENSP00000325863
DNAJA3Q96EY13, ENSP000002623754I2D: score=1 STRING: ENSP00000262375
PCNAP120043, ENSP000003684384I2D: score=1 STRING: ENSP00000368438
About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001541ovarian follicle development IEA--
GO:0001556oocyte maturation IEA--
GO:0006259DNA metabolic process ----
GO:0006281DNA repair ----
GO:0006351transcription, DNA-dependent ----

DMC1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DMC1 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DMC1

2 Novoseek inferred chemical compound relationships for DMC1 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
atp 27 2 19076215 (1), 19004837 (1)
calcium 0 3 19076215 (1), 19004837 (1)

Search CenterWatch for drugs/clinical trials and news about DMC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DMC1 gene (2 alternative transcripts): 
NM_001278208.1  NM_007068.3  

Unigene Cluster for DMC1:

DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)
Hs.339396  [show with all ESTs]
Unigene Representative Sequence: NM_007068
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000216024(uc011anv.1 uc003avz.1) ENST00000439567 ENST00000478820(uc003awa.1)
ENST00000415483 ENST00000464842 ENST00000428462
miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DMC1
8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate DMC1 (see all 18):
hsa-miR-548j hsa-miR-548i hsa-miR-3653 hsa-miR-197 hsa-miR-205* hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-548w
SwitchGear 3'UTR luciferase reporter plasmidDMC1 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for DMC1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMC1
Clone
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OriGene clones in human, mouse for DMC1 (see all 6)
OriGene ORF clones in mouse, rat for DMC1
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GenScript: all cDNA clones in your preferred vector: DMC1 (NM_007068)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMC1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMC1
Sirion Biotech Customized lentivirus for stable overexpression of DMC1 
                     Customized lentivirus expression plasmids for stable overexpression of DMC1 
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for DMC1
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DMC1
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMC1
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMC1

Additional mRNA sequence: 

AK292617.1 AK297664.1 BC035658.1 BC125163.1 BC125164.1 CR456486.1 D63882.1 D64108.1 

3 DOTS entries:

DT.403812  DT.97795669  DT.95072331 

17 AceView cDNA sequences:

NM_007068 CR456486 D64108 BC035658 D63882 BM844232 BM843634 BM545092 
BE348322 BM841612 BP368818 BX091202 BG943139 H66279 H67984 BG959880 
H67663 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DMC1 expression in normal human tissues (normalized intensities)      DMC1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGCTTGTAAT
DMC1 Expression
About this image


DMC1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/4 selected tissues (see all 4) fully expand
 
 Gonad (Reproductive System)    fully expand to see all 4 entries
         Primordial Germ Cells Primitive Gonad
 
 Ovary (Reproductive System)    fully expand to see all 3 entries
         Primary Oocyte Primordial Follicle
         Ovarian tissue-dissociated cells (human)
 
 Testis (Reproductive System)    fully expand to see all 2 entries
         Primary Spermatocyte Seminiferous Tubules
         testis ; cells in seminiferus ducts   
 
 Spinal Cord (Nervous System)
         Superior Cervical Ganglion   

See DMC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DMC1

SOURCE GeneReport for Unigene cluster: Hs.339396
    SABiosciences Expression via Pathway-Focused PCR Array including DMC1: 
          DNA Repair in human mouse rat

Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMC1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMC1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for DMC1 gene from 7/19 species (see all 19)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Dmc11 , 5 DMC1 dosage suppressor of mck1 homolog, meiosis-specific more1, 5 91.96(n)1
97.06(a)1
  15 (37.79 cM)5
134041  NM_010059.21  NP_034189.11 
 795615005 
chicken
(Gallus gallus)
Aves DMC11 DMC1 dosage suppressor of mck1 homolog, meiosis-specific more 82.54(n)
96.15(a)
  427903  XM_425477.3  XP_425477.3 
lizard
(Anolis carolinensis)
Reptilia DMC16
Uncharacterized protein
94(a)
1 ↔ 1
5(24080499-24097484)
zebrafish
(Danio rerio)
Actinopterygii dmc11 DMC1 dosage suppressor of mck1 homolog, meiosis-specific more 74.16(n)
88.76(a)
  553953  NM_001020782.1  NP_001018618.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DMC1(YER179W)4
DMC11
Meiosis-specific protein required for repair of double-strand more4
Dmc1p1
58.52(n)1
56.19(a)1
  5(548421-549517)4
8569261, 4  NP_011106.11, 4 
thale cress
(Arabidopsis thaliana)
eudicotyledons DMC11 meiotic recombination protein DMC1-like protein 60.37(n)
62.23(a)
  821860  NM_113188.2  NP_188928.2 
rice
(Oryza sativa)
Liliopsida AB064544.12   -- 73.08(n)    AB064544.1 


ENSEMBL Gene Tree for DMC1 (if available)
TreeFam Gene Tree for DMC1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DMC1 gene
RAD51B2  RAD51C2  
1 SIMAP similar gene for DMC1 using alignment to 5 protein entries:     DMC1_HUMAN (see all proteins):
RAD51

DMC1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/985 SNPs in DMC1 are shown (see all 985)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 22 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs571059751,2
C,F--22831552(+) TTTTTC/TTGTAT 1 -- ds50013Minor allele frequency- T:0.33WA NA 6
rs561758271,2
C,F--22831561(+) ATTTTG/TGTAGA 1 -- ds50013Minor allele frequency- T:0.33WA NA 6
rs1401849391,2
C--22831572(+) GACGGA/GGTTTT 1 -- ds50010--------
rs1166689031,2
F--22831709(+) TGTAAC/TATTAA 1 -- ds50011Minor allele frequency- T:0.10WA 118
rs1926214871,2
--22831722(+) TCTATA/GAAGAT 1 -- ds50010--------
rs1847815961,2
--22831785(+) CATATC/TTTCAC 1 -- ds50010--------
rs1896882261,2
--22831804(+) CATTTC/TGAAAA 1 -- ut310--------
rs115704361,2
C,F,H--22831850(-) AATGTG/ATAAAA 1 -- ut31 ese38Minor allele frequency- A:0.01NS NA 1280
rs72898541,2
C--22832135(+) tgaacT/Gcctga 1 -- ut31 ese31Minor allele frequency- G:0.01NS 168
rs2015361091,2
C--22832295(-) TATAGA/CAACAG 1 -- ut310--------

HapMap Linkage Disequilibrium report for DMC1 (38914954 - 38966291 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for DMC1:    About this table     
Variant IDTypeSubtypePubMed ID
nsv3624CNV Loss18451855
esv28829CNV Loss19812545
nsv915066CNV Loss21882294
esv1003190OTHER Inversion20482838


Human Gene Mutation Database (HGMD): DMC1
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602721    OMIM disorders: --

7 diseases for DMC1:    About MalaCards
keratoderma    pterygium    bloom syndrome    premature ovarian failure
azoospermia    infertility    breast cancer


DMC1 for disorders           About GeneDecksing

Genetic Association Database (GAD): DMC1
Human Genome Epidemiology (HuGE) Navigator: DMC1 (4 documents)

Export disorders for DMC1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for DMC1 gene, integrated from 9 sources (see all 66):
(articles sorted by number of sources associating them with DMC1)
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  1. The mouse and human homologs of DMC1, the yeast meiosis-specific homologous recombination gene, have a common unique form of exon- skipped transcript in meiosis. (PubMed id 8602360)1, 2, 3, 9 Habu T.... Morita T. (1996)
  2. Expression profiles of a human gene identified as a structural homologue of meiosis-specific recA-like genes. (PubMed id 8590282)1, 2, 3 Sato S.... Tabata S. (1995)
  3. Structural basis for octameric ring formation and DNA interaction of the human homologous-pairing protein Dmc1. (PubMed id 15125839)1, 2, 9 Kinebuchi T.... Yokoyama S. (2004)
  4. Interactions between human BRCA2 protein and the meiosis-specific recombinase DMC1. (PubMed id 17541404)1, 3, 9 Thorslund T....West S.C. (2007)
  5. Evaluation of 172 candidate polymorphisms for associa tion with oligozoospermia or azoospermia in a large cohort of men of European d escent. (PubMed id 20378615)1, 4 Aston K.I....Carrell D.T. (2010)
  6. Genetic variation in genes interacting with BRCA1/2 a nd risk of breast cancer in the Cypriot population. (PubMed id 19714462)1, 4 Loizidou M.A....Kyriacou K. (2010)
  7. Genetic investigation of four meiotic genes in women with premature ovarian failure. (PubMed id 18166824)1, 4 Mandon-Pepin B....Fellous M. (2008)
  8. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
  9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  10. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 11144 HGNC: 2927 AceView: DMC1 Ensembl:ENSG00000100206 euGenes: HUgn11144
ECgene: DMC1 H-InvDB: DMC1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for DMC1 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DMC1 Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPshttp://egp.gs.washington.edu/data/dmc1/

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for DMC1 gene:
Search GeneIP for patents involving DMC1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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