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

    Gene ID: 27109, updated on 9-Dec-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
    mouse all
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    Genomic context

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    See DMAC2L in Genome Data Viewer
    Location:
    14q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50311516..50327957)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (44517742..44534175)
    RS_2024_09 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. 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
    3. 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
    4. F1-ATPase: a highly efficient rotary ATP machine. Kinosita K Jr, et al. Essays Biochem, 2000. PMID 12471886
    5. Rotary protein motors. Oster G, et al. Trends Cell Biol, 2003 Mar. PMID 12628343

    See all (27) 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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    		  
    located_in mitochondrion HTP PubMed 
    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_2024_08

    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, A0A8I5KUF2

    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, A0A8I5KUF2
      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

      UniProtKB/TrEMBL
      A0A8I5KUF2

    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

      UniProtKB/TrEMBL
      A0A8I5KUF2

    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

    Gene LinkOut

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