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

Gene ID: 90871, updated on 13-Mar-2020

Summary

Official Symbol
DMAC1provided by HGNC
Official Full Name
distal membrane arm assembly complex 1provided by HGNC
Primary source
HGNC:HGNC:30536
See related
Ensembl:ENSG00000137038 MIM:617261
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
Expression
Ubiquitous expression in heart (RPKM 8.9), kidney (RPKM 8.7) and 25 other tissues See more
Orthologs

Genomic context

See DMAC1 in Genome Data Viewer
Location:
9p24.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (7796500..7799778, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (7796490..7799806, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 33 Neighboring gene meiotic recombination hotspot U Neighboring gene uncharacterized LOC105375971 Neighboring gene VISTA enhancer hs304

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 gene information

Markers

Homology

Clone Names

  • MGC4730

Gene Ontology Provided by GOA

Process Evidence Code Pubs
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Q96GE9
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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