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Aliases for DMAC1 Gene

Aliases for DMAC1 Gene

  • Distal Membrane Arm Assembly Complex 1 2 3 5
  • Transmembrane Protein 261 2 3 4
  • C9orf123 3 4
  • TMEM261 3 4
  • Distal Membrane-Arm Assembly Complex Protein 1 3
  • Chromosome 9 Open Reading Frame 123 2
  • Transmembrane Protein C9orf123 3

External Ids for DMAC1 Gene

Previous HGNC Symbols for DMAC1 Gene

  • C9orf123
  • TMEM261

Summaries for DMAC1 Gene

GeneCards Summary for DMAC1 Gene

DMAC1 (Distal Membrane Arm Assembly Complex 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for DMAC1 Gene

  • Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I.

Additional gene information for DMAC1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMAC1 Gene

Genomics for DMAC1 Gene

Regulatory Elements for DMAC1 Gene

Enhancers for DMAC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H007798 1 ENCODE 13.3 +88.9 88925 1 ATF1 ARID4B SIN3A DMAP1 YY1 ETS1 ELK1 ZNF143 ZHX2 MXD4 DMAC1 GC09P007797
GH09H007880 0.4 ENCODE 0.4 +8.6 8635 0 POLR2A DMAC1 GC09P007797
GH09H007879 0.4 ENCODE 0.4 +8.3 8305 0 POLR2A DMAC1 GC09P007797
GH09H007844 0.5 ENCODE 0.3 +43.9 43915 0 CTCF ZNF10 SMC3 RAD21 DMAC1 GC09P007797
GH09H007910 0.2 ENCODE 0.3 -21.4 -21376 0 DMAC1 ENSG00000226376
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DMAC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DMAC1 Gene

Chromosome:
9
Start:
7,796,490 bp from pter
End:
7,888,380 bp from pter
Size:
91,891 bases
Orientation:
Minus strand

Genomic View for DMAC1 Gene

Genes around DMAC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMAC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMAC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMAC1 Gene

Proteins for DMAC1 Gene

  • Protein details for DMAC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GE9-DMAC1_HUMAN
    Recommended name:
    Distal membrane-arm assembly complex protein 1
    Protein Accession:
    Q96GE9
    Secondary Accessions:
    • A8K9B7
    • Q5T6Y9
    • Q9NT74

    Protein attributes for DMAC1 Gene

    Size:
    116 amino acids
    Molecular mass:
    12257 Da
    Quaternary structure:
    • Interacts with incompletely assembled mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

    Alternative splice isoforms for DMAC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DMAC1 Gene

Post-translational modifications for DMAC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DMAC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DMAC1 Gene

Domains & Families for DMAC1 Gene

Gene Families for DMAC1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for DMAC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DMAC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DMAC1: view

No data available for UniProtKB/Swiss-Prot for DMAC1 Gene

Function for DMAC1 Gene

Molecular function for DMAC1 Gene

UniProtKB/Swiss-Prot Function:
Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I.

Phenotypes From GWAS Catalog for DMAC1 Gene

genes like me logo Genes that share phenotypes with DMAC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DMAC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DMAC1 Gene

Localization for DMAC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMAC1 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DMAC1 gene
Compartment Confidence
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DMAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IDA 27626371
GO:0005747 colocalizes_with mitochondrial respiratory chain complex I IDA 27626371
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DMAC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DMAC1 Gene

Pathways & Interactions for DMAC1 Gene

SuperPathways for DMAC1 Gene

No Data Available

Interacting Proteins for DMAC1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000350961%0d%0a9606.ENSP00000313199%0d%0a9606.ENSP00000327538%0d%0a
Selected Interacting proteins: ENSP00000350961 Q96GE9-DMAC1_HUMAN for DMAC1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for DMAC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 27626371
genes like me logo Genes that share ontologies with DMAC1: view

No data available for Pathways by source and SIGNOR curated interactions for DMAC1 Gene

Drugs & Compounds for DMAC1 Gene

No Compound Related Data Available

Transcripts for DMAC1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DMAC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DMAC1 Gene

No ASD Table

Relevant External Links for DMAC1 Gene

GeneLoc Exon Structure for
DMAC1
ECgene alternative splicing isoforms for
DMAC1

Expression for DMAC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DMAC1 Gene:

DMAC1

Evidence on tissue expression from TISSUES for DMAC1 Gene

  • Lung(4.4)
  • Nervous system(3.1)
  • Muscle(2.6)
  • Heart(2.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DMAC1 Gene

Orthologs for DMAC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DMAC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100611439 33
  • 90.99 (n)
cow
(Bos Taurus)
Mammalia C8H9orf123 33
  • 74.36 (n)
MGC127919 34
  • 57 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C11H9orf123 33
  • 73.87 (n)
TMEM261 34
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem261 33 34
  • 71.49 (n)
Dmac1 16
rat
(Rattus norvegicus)
Mammalia Tmem261 33
  • 71.05 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM261 34
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii TMEM261 34
  • 36 (a)
OneToOne
Species where no ortholog for DMAC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DMAC1 Gene

ENSEMBL:
Gene Tree for DMAC1 (if available)
TreeFam:
Gene Tree for DMAC1 (if available)

Paralogs for DMAC1 Gene

Pseudogenes.org Pseudogenes for DMAC1 Gene

genes like me logo Genes that share paralogs with DMAC1: view

No data available for Paralogs for DMAC1 Gene

Variants for DMAC1 Gene

Sequence variations from dbSNP and Humsavar for DMAC1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1001325260 -- 7,801,051(+) TCTTC(A/G)TCCAT upstream-variant-2KB
rs1001818165 -- 7,801,310(+) TGAAT(C/G)TTTCC upstream-variant-2KB
rs1002761355 -- 7,797,953(+) AGACT(A/C)GCTGT utr-variant-3-prime
rs1002878047 -- 7,796,136(+) CATGA(C/T)TGAGT downstream-variant-500B
rs1003251246 -- 7,800,871(+) ATTTT(C/T)TGCAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DMAC1 Gene

Variant ID Type Subtype PubMed ID
nsv524896 CNV gain 19592680
nsv613266 CNV gain 21841781

Variation tolerance for DMAC1 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.34; 81.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DMAC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMAC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMAC1 Gene

Disorders for DMAC1 Gene

Relevant External Links for DMAC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DMAC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DMAC1

No disorders were found for DMAC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DMAC1 Gene

Publications for DMAC1 Gene

  1. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 2 3 4 60
  2. Identification and functional analysis of 9p24 amplified genes in human breast cancer. (PMID: 21666724) Wu J … Yang ZQ (Oncogene 2012) 2 3 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for DMAC1 Gene

Sources for DMAC1 Gene

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