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

    Gene ID: 90871, updated on 5-Mar-2024

    Summary

    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. Colocalizes with mitochondrial respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart (RPKM 8.9), kidney (RPKM 8.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See DMAC1 in Genome Data Viewer
    Location:
    9p24.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (7796500..7799778, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (7799153..7802419, complement)
    105.20220307 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

    Expression

    • Project title: 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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_001318058.2NP_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:4792
      DUF4536; Domain of unknown function (DUF4536)
    2. NM_001318059.2NP_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:4763
      DUF4536; Domain of unknown function (DUF4536)
    3. NM_033428.3NP_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:4792
      DUF4536; Domain of unknown function (DUF4536)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)