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    DMAC1 distal membrane arm assembly component 1 [ Homo sapiens (human) ]

    Gene ID: 90871, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DMAC1provided by HGNC
    Official Full Name
    distal membrane arm assembly component 1provided by HGNC
    Primary source
    HGNC:HGNC:30536
    See related
    Ensembl:ENSG00000137038 MIM:617261; AllianceGenome:HGNC:30536
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TMEM261; C9orf123
    Summary
    Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in heart (RPKM 8.9), kidney (RPKM 8.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DMAC1 in Genome Data Viewer
    Location:
    9p24.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (7796500..7799778, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (7799153..7802419, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (7796500..7799778, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:7548956-7549551 Neighboring gene uncharacterized LOC124902118 Neighboring gene NANOG hESC enhancer GRCh37_chr9:7665656-7666309 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:7712804-7714003 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:7756151-7757350 Neighboring gene meiotic recombination hotspot U Neighboring gene peptidylprolyl isomerase A pseudogene 33 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:7799542-7800088 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:7879626-7880126 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:7880127-7880627 Neighboring gene uncharacterized LOC105375971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28213 Neighboring gene VISTA enhancer hs304 Neighboring gene Sharpr-MPRA regulatory region 3353 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:8485393-8486592 Neighboring gene NANOG hESC enhancer GRCh37_chr9:8514616-8515117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:8600067-8600567 Neighboring gene protein tyrosine phosphatase receptor type D Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:8643271-8644250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:8644251-8645230 Neighboring gene ribosomal protein L18a pseudogene 11

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Identification and functional analysis of 9p24 amplified genes in human breast cancer. Wu J, et al. Oncogene, 2012 Jan 19. PMID 21666724, Free PMC Article
    2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Stroud DA, et al. Nature, 2016 Oct 6. PMID 27626371
    3. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. Achuthankutty D, et al. J Cell Biol, 2019 Dec 2. PMID 31615875, Free PMC Article
    4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061
    5. A protein interaction framework for human mRNA degradation. Lehner B, et al. Genome Res, 2004 Jul. PMID 15231747, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Pathways from PubChem

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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

    Homology

    Clone Names

    • MGC4730

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in mitochondrial respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    distal membrane-arm assembly complex protein 1
    Names
    distal membrane arm assembly complex 1
    transmembrane protein 261
    transmembrane protein C9orf123

    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.

    mRNA and Protein(s)

    1. NM_001318058.2 → NP_001304987.1  distal membrane-arm assembly complex protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest trancript. It encodes isoform 1.
      Source sequence(s)
      AI284226, AI310403, AL137489, AL354694, BC009510, CA438622, DA887295
      UniProtKB/Swiss-Prot
      A8K9B7, Q5T6Y9, Q96GE9, Q9NT74
      Conserved Domains (1) summary
      pfam15055
      Location:47 → 92
      DUF4536; Domain of unknown function (DUF4536)

    2. NM_001318059.2 → NP_001304988.1  distal membrane-arm assembly complex protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, which causes a frameshift compared to variant 1. It encodes isoform 3, which is longer than and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AI284226, AI310403, AK128876, AL137489, AL354694, CA438622
      UniProtKB/Swiss-Prot
      Q96GE9
      Conserved Domains (1) summary
      pfam15055
      Location:47 → 63
      DUF4536; Domain of unknown function (DUF4536)

    3. NM_033428.3 → NP_219500.1  distal membrane-arm assembly complex protein 1 isoform 2

      See identical proteins and their annotated locations for NP_219500.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AI284226, AI310403, AL137489, AL354694, BI550091, CA438622
      Consensus CDS
      CCDS34989.1
      UniProtKB/Swiss-Prot
      Q96GE9
      Related
      ENSP00000350961.4, ENST00000358227.5
      Conserved Domains (1) summary
      pfam15055
      Location:47 → 92
      DUF4536; Domain of unknown function (DUF4536)

    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

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      7796500..7799778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      7799153..7802419 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GE9.1 GenPept UniProtKB/Swiss-Prot:Q96GE9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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