DMAC1 (distal membrane arm assembly component 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 90871
Gene name Distal membrane arm assembly component 1
Gene symbol DMAC1
Synonyms (NCBI Gene)
C9orf123TMEM261
Chromosome 9
Chromosome location 9p24.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8 Show/Hide all (8)
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GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
GO:0005743 Component Mitochondrial inner membrane IDA 27626371
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
617261 30536 ENSG00000137038
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96GE9
Protein name Distal membrane-arm assembly complex protein 1 (Transmembrane protein 261)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15055 DUF4536 46 → 92 Domain of unknown function (DUF4536) Domain
Sequence 
MGSRLSQPFESYITAPPGTAAAPAKPAPPATPGAPTSPAEHRLLKTCWSCRVLSGLGLMG
AGGYVYWVARKPMKMGYPPSPWTITQMVIGLSENQGIATWGIVVMADPKGKAYRVV
Sequence length 116
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 18951430
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE — GWAS catalog 37156939
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER — GWAS catalog 18951430
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS — GWAS catalog 34356046
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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LPAR3 2 shared diseasesConnective tissue disease, Dental caries 2 shared evidence sourcesGWAS catalog (Connective tissue disease), GWAS catalog (Dental caries) Related via 2 shared diseases including Connective tissue disease, Dental caries — evidence mostly GWAS catalog. SSX2IP 2 shared diseasesConnective tissue disease, Dental caries 2 shared evidence sourcesGWAS catalog (Connective tissue disease), GWAS catalog (Dental caries) Related via 2 shared diseases including Connective tissue disease, Dental caries — evidence mostly GWAS catalog. SLC22A24 2 shared diseasesConotruncal cardiac defect, Dental caries 2 shared evidence sourcesGWAS catalog (Conotruncal cardiac defect), GWAS catalog (Dental caries) Related via 2 shared diseases including Conotruncal cardiac defect, Dental caries — evidence mostly GWAS catalog. PTPRD 7 shared diseasesCannabis abuse, Conduct disorder, Connective tissue disease, Conotruncal cardiac defect, Dental caries, Osteonecrosis, Sarcopenia 7 shared evidence sourcesGWAS catalog (Cannabis abuse), GWAS catalog (Conduct disorder), GWAS catalog (Connective tissue disease), GWAS catalog (Conotruncal cardiac defect), GWAS catalog (Dental caries), GWAS catalog (Osteonecrosis), GWAS catalog (Sarcopenia) Related via 7 shared diseases including Cannabis abuse, Conduct disorder — evidence mostly GWAS catalog. H4C8 2 shared diseasesCannabis abuse, Dental caries 2 shared evidence sourcesGWAS catalog (Cannabis abuse), GWAS catalog (Dental caries) Related via 2 shared diseases including Cannabis abuse, Dental caries — evidence mostly GWAS catalog.
Mixed connective tissue disease Linked via 2 of 5 related genesLPAR3, SSX2IP Diabetes mellitus type 1 Linked via 2 of 5 related genesLPAR3, H4C8 Alzheimer disease Linked via 2 of 5 related genesPTPRD, H4C8 Asthma Linked via 2 of 5 related genesPTPRD, H4C8 Major depressive disorder Linked via 2 of 5 related genesPTPRD, H4C8