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DMAC2L distal membrane arm assembly component 2 like [ Homo sapiens (human) ]

Gene ID: 27109, updated on 7-Apr-2024

Summary

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Official Symbol
DMAC2Lprovided by HGNC
Official Full Name
distal membrane arm assembly component 2 likeprovided by HGNC
Primary source
HGNC:HGNC:18799
See related
Ensembl:ENSG00000125375 MIM:618579; AllianceGenome:HGNC:18799
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FB; ATPW; ATP5S; HSU79253
Summary
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 3.9), kidney (RPKM 3.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50311516..50327957)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (44517742..44534175)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50778234..50794675)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:50605652-50606356 Neighboring gene SOS Ras/Rho guanine nucleotide exchange factor 2 Neighboring gene NANOG hESC enhancer GRCh37_chr14:50692526-50693052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8354 Neighboring gene MPRA-validated peak2154 silencer Neighboring gene L-2-hydroxyglutarate dehydrogenase Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:50766206-50766899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8355 Neighboring gene microRNA 4504 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50802261-50802882 Neighboring gene Sharpr-MPRA regulatory region 14884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8357 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:50832542-50832707 Neighboring gene cyclin dependent kinase like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50838021-50838522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50838523-50839022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:50863511-50864010 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 5 Neighboring gene zinc finger protein 678 pseudogene Neighboring gene uncharacterized LOC124903312

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. Factor B and the mitochondrial ATP synthase complex. Belogrudov GI, et al. J Biol Chem, 2002 Feb 22. PMID 11744738
  2. MiR-34a is Involved in the Decrease of ATP Contents Induced by Resistin Through Target on ATP5S in HepG2 Cells. Wen F, et al. Biochem Genet, 2015 Dec. PMID 26385595
  3. Evidence for the involvement of coupling factor B in the H+ channel of the mitochondrial H+-ATPase. Sanadi DR, et al. Proc Natl Acad Sci U S A, 1984 Mar. PMID 6143319, Free PMC Article
  4. Understanding ATP synthesis: structure and mechanism of the F1-ATPase (Review). Leyva JA, et al. Mol Membr Biol, 2003 Jan-Mar. PMID 12745923
  5. Rotary protein motors. Oster G, et al. Trends Cell Biol, 2003 Mar. PMID 12628343

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The study is the first to show that ATP5S is one of the target genes of miR-34a.
    Title: MiR-34a is Involved in the Decrease of ATP Contents Induced by Resistin Through Target on ATP5S in HepG2 Cells.
  2. 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
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables proton transmembrane transporter activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in ATP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in proton transmembrane transport NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
part_of proton-transporting ATP synthase complex, coupling factor F(o) IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ATP synthase subunit s, mitochondrial
Names
ATP synthase coupling factor B, mitochondrial
ATP synthase coupling factor B-like 1
ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)
ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B)
ATP synthase-coupling factor B
distal membrane arm assembly complex 2 like
distal membrane arm assembly complex 2-like protein
mitochondrial ATP synthase regulatory component factor B
NP_001003803.2
NP_001003805.2
NP_001357534.1
NP_001369436.1
NP_001369438.1
NP_001369439.1
NP_056499.3
XP_005267594.1
XP_011534954.2
XP_011534959.1
XP_047287226.1
XP_047287227.1
XP_047287228.1
XP_047287229.1
XP_047287230.1
XP_054231840.1
XP_054231841.1
XP_054231842.1
XP_054231843.1
XP_054231844.1
XP_054231845.1
XP_054231846.1

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_001003803.3 → NP_001003803.2  ATP synthase subunit s, mitochondrial isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 4. Variants 1 and 4 both encode the same isoform (a).
    Source sequence(s)
    AL359397
    Consensus CDS
    CCDS32075.2
    UniProtKB/Swiss-Prot
    A0A2R8YDJ1, A0A5K1VW60, A8K1U3, D9N156, Q8WWX3, Q96F77, Q99766
    Related
    ENSP00000308334.8, ENST00000311459.12
    Conserved Domains (1) summary
    sd00034
    Location:111 → 135
    LRR_AMN1; leucine-rich repeat [structural motif]

  2. NM_001003805.3 → NP_001003805.2  ATP synthase subunit s, mitochondrial isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks a segment in the coding region which leads to a frameshift, compared to variant 4. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL359397
    Consensus CDS
    CCDS32076.2
    UniProtKB/TrEMBL
    A0A5F9ZGZ2, A0A8I5KUF2
    Related
    ENSP00000499920.1, ENST00000672419.1

  3. NM_001370605.1 → NP_001357534.1  ATP synthase subunit s, mitochondrial isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 4 both encode the same isoform (a).
    Source sequence(s)
    AL359397
    Consensus CDS
    CCDS32075.2
    UniProtKB/Swiss-Prot
    A0A2R8YDJ1, A0A5K1VW60, A8K1U3, D9N156, Q8WWX3, Q96F77, Q99766
    Conserved Domains (1) summary
    sd00034
    Location:111 → 135
    LRR_AMN1; leucine-rich repeat [structural motif]

  4. NM_001382507.1 → NP_001369436.1  ATP synthase subunit s, mitochondrial isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AL359397
    Consensus CDS
    CCDS32075.2
    UniProtKB/Swiss-Prot
    A0A2R8YDJ1, A0A5K1VW60, A8K1U3, D9N156, Q8WWX3, Q96F77, Q99766
    Related
    ENSP00000506374.1, ENST00000557421.7
    Conserved Domains (1) summary
    sd00034
    Location:111 → 135
    LRR_AMN1; leucine-rich repeat [structural motif]

  5. NM_001382509.1 → NP_001369438.1  ATP synthase subunit s, mitochondrial isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AL359397
    Consensus CDS
    CCDS32075.2
    UniProtKB/Swiss-Prot
    A0A2R8YDJ1, A0A5K1VW60, A8K1U3, D9N156, Q8WWX3, Q96F77, Q99766
    Conserved Domains (1) summary
    sd00034
    Location:111 → 135
    LRR_AMN1; leucine-rich repeat [structural motif]

  6. NM_001382510.1 → NP_001369439.1  ATP synthase subunit s, mitochondrial isoform d

    Status: REVIEWED

    Source sequence(s)
    AL359397

  7. NM_015684.4 → NP_056499.3  ATP synthase subunit s, mitochondrial isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, 3' UTR, and the 3' coding region, compared to variant 4. The resulting isoform (c) contains a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL359397
    Consensus CDS
    CCDS45102.2
    UniProtKB/TrEMBL
    A0A5K1VW82, A0A8I5KUF2
    Related
    ENSP00000389246.3, ENST00000426751.7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    50311516..50327957
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536652.2 → XP_011534954.2  ATP synthase subunit s, mitochondrial isoform X1

  2. XM_047431271.1 → XP_047287227.1  ATP synthase subunit s, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    A0A2R8YDJ1, A0A5K1VW60, A8K1U3, D9N156, Q8WWX3, Q96F77, Q99766

  3. XM_047431270.1 → XP_047287226.1  ATP synthase subunit s, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    A0A2R8YDJ1, A0A5K1VW60, A8K1U3, D9N156, Q8WWX3, Q96F77, Q99766
    Related
    ENSP00000509859.1, ENST00000554438.6

  4. XM_047431274.1 → XP_047287230.1  ATP synthase subunit s, mitochondrial isoform X5

    UniProtKB/TrEMBL
    A0A5F9ZGZ2

  5. XM_047431272.1 → XP_047287228.1  ATP synthase subunit s, mitochondrial isoform X3

  6. XM_047431273.1 → XP_047287229.1  ATP synthase subunit s, mitochondrial isoform X4

    UniProtKB/TrEMBL
    A0A5K1VW82
    Related
    ENSP00000509056.1, ENST00000553774.2

  7. XM_011536657.4 → XP_011534959.1  ATP synthase subunit s, mitochondrial isoform X5

    UniProtKB/TrEMBL
    A0A5F9ZGZ2, A0A8I5KUF2

  8. XM_005267537.5 → XP_005267594.1  ATP synthase subunit s, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_005267594.1

    UniProtKB/Swiss-Prot
    A0A2R8YDJ1, A0A5K1VW60, A8K1U3, D9N156, Q8WWX3, Q96F77, Q99766
    Related
    ENSP00000494641.2, ENST00000554951.6
    Conserved Domains (1) summary
    sd00034
    Location:111 → 135
    LRR_AMN1; leucine-rich repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    44517742..44534175
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375865.1 → XP_054231840.1  ATP synthase subunit s, mitochondrial isoform X1

  2. XM_054375868.1 → XP_054231843.1  ATP synthase subunit s, mitochondrial isoform X2

  3. XM_054375866.1 → XP_054231841.1  ATP synthase subunit s, mitochondrial isoform X2

  4. XM_054375870.1 → XP_054231845.1  ATP synthase subunit s, mitochondrial isoform X5

  5. XM_054375869.1 → XP_054231844.1  ATP synthase subunit s, mitochondrial isoform X3

  6. XM_054375871.1 → XP_054231846.1  ATP synthase subunit s, mitochondrial isoform X5

  7. XM_054375867.1 → XP_054231842.1  ATP synthase subunit s, mitochondrial isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99766.4 GenPept UniProtKB/Swiss-Prot:Q99766

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