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DMAC2 distal membrane arm assembly component 2 [ Homo sapiens (human) ]

Gene ID: 55101, updated on 27-Nov-2024

Summary

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Official Symbol
DMAC2provided by HGNC
Official Full Name
distal membrane arm assembly component 2provided by HGNC
Primary source
HGNC:HGNC:25496
See related
Ensembl:ENSG00000105341 MIM:617262; AllianceGenome:HGNC:25496
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
ATP5SL
Summary
Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in heart (RPKM 21.0), duodenum (RPKM 16.7) and 25 other tissues See more
Orthologs
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Genomic context

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See DMAC2 in Genome Data Viewer
Location:
19q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41431318..41439912, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44252558..44261153, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41937223..41945817, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:41903234-41903906 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:41903907-41904578 Neighboring gene branched chain keto acid dehydrogenase E1 subunit alpha Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41912476-41913430 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:41913431-41914386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10667 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 Neighboring gene VISTA enhancer hs1948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14682 Neighboring gene glutamate rich 4 Neighboring gene uncharacterized LOC107985329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14683

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. A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. Amin Al Olama A, et al. Hum Mol Genet, 2013 Jan 15. PMID 23065704, Free PMC Article
  2. DOCK4 and CEACAM21 as novel schizophrenia candidate genes in the Jewish population. Alkelai A, et al. Int J Neuropsychopharmacol, 2012 May. PMID 21682944
  3. Cul3-KLHL20 Ubiquitin Ligase Governs the Turnover of ULK1 and VPS34 Complexes to Control Autophagy Termination. Liu CC, et al. Mol Cell, 2016 Jan 7. PMID 26687681
  4. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Stroud DA, et al. Nature, 2016 Oct 6. PMID 27626371
  5. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Lango Allen H, et al. Nature, 2010 Oct 14. PMID 20881960, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.
EBI GWAS Catalog
DOCK4 and CEACAM21 as novel schizophrenia candidate genes in the Jewish population.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

  • FLJ10241, FLJ31003, FLJ60315

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
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
part_of SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
distal membrane-arm assembly complex protein 2
Names
ATP synthase subunit s-like protein
ATP5S like
distal membrane arm assembly complex 2

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_001167867.2 → NP_001161339.1  distal membrane-arm assembly complex protein 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC011526, AK301940, BC013323
    Consensus CDS
    CCDS54270.1
    UniProtKB/TrEMBL
    B7ZAJ8
    Related
    ENSP00000403910.2, ENST00000417807.7
    Conserved Domains (2) summary
    cd09293
    Location:140 → 201
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:132 → 155
    LRR_AMN1; leucine-rich repeat [structural motif]

  2. NM_001167868.2 → NP_001161340.1  distal membrane-arm assembly complex protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001161340.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK293132, BC013323
    Consensus CDS
    CCDS54269.1
    UniProtKB/Swiss-Prot
    Q9NW81
    Related
    ENSP00000301183.9, ENST00000301183.15

  3. NM_001167869.2 → NP_001161341.1  distal membrane-arm assembly complex protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001161341.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region, compared to variant 1, resulting in a protein that maintains the reading frame but has a distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AC011526, AK297698, BC013323, DA075924
    Consensus CDS
    CCDS59390.1
    UniProtKB/Swiss-Prot
    Q9NW81
    Related
    ENSP00000466485.1, ENST00000589970.5

  4. NM_001167870.2 → NP_001161342.1  distal membrane-arm assembly complex protein 2 isoform 6

    See identical proteins and their annotated locations for NP_001161342.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding region, compared to variant 1, resulting in a shorter isoform (6) that maintains the reading frame but has a distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    BC013323, DA075924
    Consensus CDS
    CCDS59389.1
    UniProtKB/Swiss-Prot
    Q9NW81
    Related
    ENSP00000397413.3, ENST00000438807.7
    Conserved Domains (1) summary
    pfam12452
    Location:41 → 74
    DUF3685; Protein of unknown function (DUF3685)

  5. NM_001167871.2 → NP_001161343.1  distal membrane-arm assembly complex protein 2 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding region, compared to variant 1, resulting in a shorter isoform (5) that maintains the reading frame but has a distinct N-termini, compared to isoform 1.
    Source sequence(s)
    AC011526, AK298197, BC013323
    Consensus CDS
    CCDS54271.1
    UniProtKB/TrEMBL
    B7ZAJ8
    Related
    ENSP00000467205.1, ENST00000592922.6
    Conserved Domains (3) summary
    cd09293
    Location:107 → 168
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:99 → 122
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12452
    Location:41 → 74
    DUF3685; Protein of unknown function (DUF3685)

  6. NM_001320838.2 → NP_001307767.1  distal membrane-arm assembly complex protein 2 isoform 7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform 7) is shorter than isoform 1.
    Source sequence(s)
    AC011526, BC013323, DA057313, DA540661
    UniProtKB/Swiss-Prot
    Q9NW81

  7. NM_001320839.2 → NP_001307768.1  distal membrane-arm assembly complex protein 2 isoform 8

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) lacks multiple exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 8 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011526, AW444787
    Consensus CDS
    CCDS82353.1
    UniProtKB/TrEMBL
    B4DFT4, K7EIV4
    Related
    ENSP00000468059.1, ENST00000590641.6
    Conserved Domains (3) summary
    cd09293
    Location:113 → 174
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:105 → 128
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12452
    Location:47 → 80
    DUF3685; Protein of unknown function (DUF3685)

  8. NM_001320840.2 → NP_001307769.1  distal membrane-arm assembly complex protein 2 isoform 9

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) lacks an alternate in-frame exon in the coding region, compared to variant 1. It encodes isoform 9 which is shorter than isoform 1.
    Source sequence(s)
    AC011526, BC013323
    UniProtKB/TrEMBL
    B7ZAJ8
    Conserved Domains (3) summary
    cd09293
    Location:113 → 174
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:105 → 128
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12452
    Location:47 → 80
    DUF3685; Protein of unknown function (DUF3685)

  9. NM_001320841.2 → NP_001307770.1  distal membrane-arm assembly complex protein 2 isoform 10

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) lacks two alternate exons in the coding region, compared to variant 1. It encodes isoform 10 which is shorter than isoform 1.
    Source sequence(s)
    AC011526, BC013323
    UniProtKB/Swiss-Prot
    Q9NW81
    Conserved Domains (1) summary
    pfam12452
    Location:47 → 80
    DUF3685; Protein of unknown function (DUF3685)

  10. NM_001320844.2 → NP_001307773.1  distal membrane-arm assembly complex protein 2 isoform 11

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12) has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs and cause translation initiation at an alternate start site, compared to variant 1. The encoded protein (isoform 11) is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AC011526, AW444787
    Consensus CDS
    CCDS82354.1
    UniProtKB/TrEMBL
    K7EIV4, M0QZC4
    Related
    ENSP00000470444.1, ENST00000595425.5
    Conserved Domains (3) summary
    cd09293
    Location:107 → 168
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:99 → 122
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam12452
    Location:41 → 74
    DUF3685; Protein of unknown function (DUF3685)

  11. NM_018035.3 → NP_060505.2  distal membrane-arm assembly complex protein 2 isoform 4

    See identical proteins and their annotated locations for NP_060505.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (4) is shorter compared to isoform 1.
    Source sequence(s)
    AC011526, AK001103, BC013323, DA075924
    Consensus CDS
    CCDS33032.1
    UniProtKB/Swiss-Prot
    B4DDC0, B4DMZ4, B4DP55, B4DXE8, F5H4W7, K7EMF6, Q96D43, Q9NW81
    UniProtKB/TrEMBL
    B7ZAJ8
    Related
    ENSP00000221943.8, ENST00000221943.14
    Conserved Domains (2) summary
    cd09293
    Location:134 → 195
    AMN1; Antagonist of mitotic exit network protein 1
    sd00034
    Location:126 → 149
    LRR_AMN1; leucine-rich repeat [structural motif]

RNA

  1. NR_030765.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) contains an alternate 5' exon and uses an alternate splice site in an internal exon, compared to variant 1. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because there is uncertainty about the protein-coding capacity of the transcript. This variant is represented as non-coding because it lacks a large portion of the 3' coding region, and translation from the upstream ORF makes the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC011526, BC013323, BQ072604, DA075924

  2. NR_135476.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC011526, BC013323, DA057313, DA631852

  3. NR_135477.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14) contains an alternate first exon and uses alternate splice sites in two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC011526, BC013323

  4. NR_135478.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15) contains an alternate first exon and uses an alternate splice site in an internal exon, compared to variant 1. It is represented as non-coding because the use of the 5'-most expected translational start codon renders it a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC011526, BC013323

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    41431318..41439912 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    44252558..44261153 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NW81.3 GenPept UniProtKB/Swiss-Prot:Q9NW81

Gene LinkOut

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