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

Gene ID: 55101, updated on 7-Jun-2020

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
109.20200522 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10241, FLJ31003, FLJ60315

Gene Ontology Provided by GOA

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 
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_030765.2 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: 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_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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