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

    Gene ID: 55101, updated on 2-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
    mouse all
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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 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)

    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

    • 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

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

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