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

    Gene ID: 55101, updated on 17-Jun-2019

    Summary

    Official Symbol
    DMAC2provided by HGNC
    Official Full Name
    distal membrane arm assembly complex 2provided by HGNC
    Primary source
    HGNC:HGNC:25496
    See related
    Ensembl:ENSG00000105341 MIM:617262
    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
    Expression
    Ubiquitous expression in heart (RPKM 21.0), duodenum (RPKM 16.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See DMAC2 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (41431318..41447822, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41937223..41945843, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene branched chain keto acid dehydrogenase E1 subunit alpha Neighboring gene VISTA enhancer hs1948 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 Neighboring gene uncharacterized LOC107985329 Neighboring gene glutamate rich 4 Neighboring gene prostate cancer associated transcript 19

    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

    Phenotypes

    NHGRI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10241, FLJ31003, FLJ60315

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    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 2
    Names
    ATP synthase subunit s-like protein
    ATP5S like

    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_001167867.2NP_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/Swiss-Prot
      Q9NW81
      Related
      ENSP00000403910.2, ENST00000417807.7
      Conserved Domains (2) summary
      cd09293
      Location:140201
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:132155
      LRR_AMN1; leucine-rich repeat [structural motif]
    2. NM_001167868.2NP_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_001167869.2NP_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_001167870.2NP_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:4174
      DUF3685; Protein of unknown function (DUF3685)
    5. NM_001167871.2NP_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/Swiss-Prot
      Q9NW81
      Related
      ENSP00000467205.1, ENST00000592922.6
      Conserved Domains (3) summary
      cd09293
      Location:107168
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:99122
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12452
      Location:4174
      DUF3685; Protein of unknown function (DUF3685)
    6. NM_001320838.2NP_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_001320839.2NP_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
      Related
      ENSP00000468059.1, ENST00000590641.6
      Conserved Domains (3) summary
      cd09293
      Location:113174
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:105128
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12452
      Location:4780
      DUF3685; Protein of unknown function (DUF3685)
    8. NM_001320840.2NP_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/Swiss-Prot
      Q9NW81
      Conserved Domains (3) summary
      cd09293
      Location:113174
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:105128
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12452
      Location:4780
      DUF3685; Protein of unknown function (DUF3685)
    9. NM_001320841.2NP_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:4780
      DUF3685; Protein of unknown function (DUF3685)
    10. NM_001320844.2NP_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
      M0QZC4
      Related
      ENSP00000470444.1, ENST00000595425.5
      Conserved Domains (3) summary
      cd09293
      Location:107168
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:99122
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12452
      Location:4174
      DUF3685; Protein of unknown function (DUF3685)
    11. NM_018035.3NP_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
      Q9NW81
      UniProtKB/TrEMBL
      A0A024R0K4
      Related
      ENSP00000221943.8, ENST00000221943.13
      Conserved Domains (2) summary
      cd09293
      Location:134195
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:126149
      LRR_AMN1; leucine-rich repeat [structural motif]

    RNA

    1. NR_030765.1 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_135476.1 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_135477.1 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_135478.1 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: Homo sapiens 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_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      41431318..41447822 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527065.2XP_011525367.1  distal membrane-arm assembly complex protein 2 isoform X1

      Conserved Domains (2) summary
      cd09293
      Location:121182
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:113136
      LRR_AMN1; leucine-rich repeat [structural motif]
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