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

Gene ID: 27109, updated on 19-Dec-2019

Summary

Official Symbol
DMAC2Lprovided by HGNC
Official Full Name
distal membrane arm assembly complex 2 likeprovided by HGNC
Primary source
HGNC:HGNC:18799
See related
Ensembl:ENSG00000125375 MIM:618579
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

Genomic context

See DMAC2L in Genome Data Viewer
Location:
14q21.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (50311521..50327957)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50778256..50802359)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene SOS Ras/Rho guanine nucleotide exchange factor 2 Neighboring gene L-2-hydroxyglutarate dehydrogenase Neighboring gene microRNA 4504 Neighboring gene cyclin dependent kinase like 1 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 5 Neighboring gene zinc finger protein 678 pseudogene Neighboring gene atlastin GTPase 1 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
proton transmembrane transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ATP biosynthetic process TAS
Traceable Author Statement
more info
 
cristae formation TAS
Traceable Author Statement
more info
 
mitochondrial ATP synthesis coupled proton transport TAS
Traceable Author Statement
more info
 
proton transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
proton-transporting ATP synthase complex, coupling factor F(o) IEA
Inferred from Electronic Annotation
more info
 

General protein information

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 protein
mitochondrial ATP synthase regulatory component factor B
NP_001003803.2
NP_001003805.2
NP_001357534.1
NP_056499.3
XP_005267594.1
XP_011534951.1
XP_011534952.1
XP_011534953.1
XP_011534954.1
XP_011534955.1
XP_011534956.1
XP_011534957.1
XP_011534958.1
XP_011534959.1
XP_016876709.1
XP_024305308.1

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_001003803.3NP_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
    CCDS32075.1
    Related
    ENSP00000308334.8, ENST00000311459.12
    Conserved Domains (1) summary
    sd00034
    Location:111135
    LRR_AMN1; leucine-rich repeat [structural motif]
  2. NM_001003805.3NP_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
    CCDS32076.1
    Related
    ENSP00000499920.1, ENST00000672419.1
  3. NM_001370605.1NP_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
    Conserved Domains (1) summary
    sd00034
    Location:111135
    LRR_AMN1; leucine-rich repeat [structural motif]
  4. NM_015684.4NP_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
    CCDS45102.1
    Related
    ENSP00000389246.3, ENST00000426751.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    50311521..50327957
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021220.2XP_016876709.1  ATP synthase subunit s, mitochondrial isoform X5

    Conserved Domains (1) summary
    sd00034
    Location:111135
    LRR_AMN1; leucine-rich repeat [structural motif]
  2. XM_011536653.3XP_011534955.1  ATP synthase subunit s, mitochondrial isoform X5

    See identical proteins and their annotated locations for XP_011534955.1

    Conserved Domains (1) summary
    sd00034
    Location:111135
    LRR_AMN1; leucine-rich repeat [structural motif]
  3. XM_024449540.1XP_024305308.1  ATP synthase subunit s, mitochondrial isoform X6

  4. XM_011536656.3XP_011534958.1  ATP synthase subunit s, mitochondrial isoform X8

    See identical proteins and their annotated locations for XP_011534958.1

    UniProtKB/Swiss-Prot
    Q99766
    Related
    ENSP00000500781.1, ENST00000672612.1
  5. XM_011536655.3XP_011534957.1  ATP synthase subunit s, mitochondrial isoform X7

    See identical proteins and their annotated locations for XP_011534957.1

  6. XM_011536654.3XP_011534956.1  ATP synthase subunit s, mitochondrial isoform X7

    See identical proteins and their annotated locations for XP_011534956.1

  7. XM_011536650.3XP_011534952.1  ATP synthase subunit s, mitochondrial isoform X2

  8. XM_011536651.3XP_011534953.1  ATP synthase subunit s, mitochondrial isoform X3

  9. XM_011536649.2XP_011534951.1  ATP synthase subunit s, mitochondrial isoform X1

    Conserved Domains (1) summary
    sd00034
    Location:155179
    LRR_AMN1; leucine-rich repeat [structural motif]
  10. XM_011536652.1XP_011534954.1  ATP synthase subunit s, mitochondrial isoform X4

    Conserved Domains (1) summary
    sd00034
    Location:116140
    LRR_AMN1; leucine-rich repeat [structural motif]
  11. XM_011536657.3XP_011534959.1  ATP synthase subunit s, mitochondrial isoform X9

  12. XM_005267537.4XP_005267594.1  ATP synthase subunit s, mitochondrial isoform X5

    See identical proteins and their annotated locations for XP_005267594.1

    Related
    ENSP00000494641.1, ENST00000554951.5
    Conserved Domains (1) summary
    sd00034
    Location:111135
    LRR_AMN1; leucine-rich repeat [structural motif]

RNA

  1. XR_943415.3 RNA Sequence

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