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

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

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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 (16) 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 
part_of mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
 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_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96GE9.1 GenPept UniProtKB/Swiss-Prot:Q96GE9

Gene LinkOut

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