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Protein

Distal membrane-arm assembly complex protein 2

Gene

DMAC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I.1 Publication

GO - Biological processi

  • mitochondrial respiratory chain complex I assembly Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Distal membrane-arm assembly complex protein 2Curated
Alternative name(s):
ATP synthase subunit s-like proteinCurated
Gene namesi
Name:DMAC2Imported
Synonyms:ATP5SLImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105341.18.
HGNCiHGNC:25496. DMAC2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000105341.
PharmGKBiPA162377263.

Polymorphism and mutation databases

BioMutaiATP5SL.
DMDMi296439436.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003186951 – 257Distal membrane-arm assembly complex protein 2Add BLAST257

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei253PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NW81.
MaxQBiQ9NW81.
PaxDbiQ9NW81.
PeptideAtlasiQ9NW81.
PRIDEiQ9NW81.

PTM databases

iPTMnetiQ9NW81.
PhosphoSitePlusiQ9NW81.

Expressioni

Gene expression databases

BgeeiENSG00000105341.
CleanExiHS_ATP5SL.
ExpressionAtlasiQ9NW81. baseline and differential.
GenevisibleiQ9NW81. HS.

Organism-specific databases

HPAiHPA041427.

Interactioni

Subunit structurei

Interacts with incompletely assembled mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).1 Publication

Protein-protein interaction databases

BioGridi120411. 2 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ9NW81.
SMRiQ9NW81.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ATP synthase subunit s family.Curated

Phylogenomic databases

eggNOGiENOG410IS4E. Eukaryota.
ENOG4111PMF. LUCA.
GeneTreeiENSGT00530000063680.
HOGENOMiHOG000034116.
HOVERGENiHBG056046.
InParanoidiQ9NW81.
OMAiFRDKEWI.
OrthoDBiEOG091G07CX.
PhylomeDBiQ9NW81.
TreeFamiTF315274.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiView protein in InterPro
IPR032675. L_dom-like.

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NW81-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAPWASLRL VAPMWNGRIR GIHRLGAAVA PEGNQKKKRT ILQFLTNYFY
60 70 80 90 100
DVEALRDYLL QREMYKVHEK NRSYTWLEKQ HGPYGAGAFF ILKQGGAVKF
110 120 130 140 150
RDKEWIRPDK YGHFSQEFWN FCEVPVEAVD AGDCDINYEG LDNLLRLKEL
160 170 180 190 200
QSLSLQRCCH VDDWCLSRLY PLADSLQELS LAGCPRISER GLACLHHLQN
210 220 230 240 250
LRRLDISDLP AVSNPGLTQI LVEEMLPNCE VVGVDWAEGL KSGPEEQPRD

TASPVPA
Length:257
Mass (Da):29,267
Last modified:May 18, 2010 - v3
Checksum:i29CBFD02143DE806
GO
Isoform 2 (identifier: Q9NW81-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-99: Missing.
     145-257: LRLKELQSLS...PRDTASPVPA → RTSAGWTSRT...RLWESTGLRA

Note: No experimental confirmation available.
Show »
Length:158
Mass (Da):18,602
Checksum:i8387C635C5F26D39
GO
Isoform 3 (identifier: Q9NW81-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: MAAPWA → MWDLVLEDRRMN
     145-257: LRLKELQSLS...PRDTASPVPA → RTSAGWTSRT...RLWESTGLRA

Show »
Length:191
Mass (Da):22,471
Checksum:i7F1EEBB93765A5EE
GO
Isoform 4 (identifier: Q9NW81-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: MAAPWA → MWDLVLEDRRMN

Note: No experimental confirmation available.
Show »
Length:263
Mass (Da):30,200
Checksum:iB8A3EFDDE672C998
GO
Isoform 5 (identifier: Q9NW81-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-99: Missing.

Note: No experimental confirmation available.
Show »
Length:230
Mass (Da):26,331
Checksum:i430D9722498CE8E3
GO
Isoform 6 (identifier: Q9NW81-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     145-257: LRLKELQSLS...PRDTASPVPA → RTSAGWTSRT...RLWESTGLRA

Note: No experimental confirmation available.
Show »
Length:185
Mass (Da):21,539
Checksum:i310CA9F8CAB2E26E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti128A → S in BAG60467 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0577989R → C. Corresponds to variant dbSNP:rs2231938Ensembl.1
Natural variantiVAR_05779923H → R1 PublicationCorresponds to variant dbSNP:rs2231939Ensembl.1
Natural variantiVAR_05780034N → S1 PublicationCorresponds to variant dbSNP:rs2231940Ensembl.1
Natural variantiVAR_060165159C → S1 PublicationCorresponds to variant dbSNP:rs1043413Ensembl.1
Natural variantiVAR_057801230E → K. Corresponds to variant dbSNP:rs2231943Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0438071 – 6MAAPWA → MWDLVLEDRRMN in isoform 3 and isoform 4. 1 Publication6
Alternative sequenceiVSP_03127073 – 99Missing in isoform 2 and isoform 5. 2 PublicationsAdd BLAST27
Alternative sequenceiVSP_031271145 – 257LRLKE…SPVPA → RTSAGWTSRTSLPCPTLASL RYWWRRCCPIARLWESTGLR A in isoform 2, isoform 3 and isoform 6. 2 PublicationsAdd BLAST113

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001103 mRNA. Translation: BAA91503.1.
AK293132 mRNA. Translation: BAG56681.1.
AK297698 mRNA. Translation: BAG60056.1.
AK298197 mRNA. Translation: BAG60467.1.
AK301940 mRNA. Translation: BAG63360.1.
AC011526 Genomic DNA. No translation available.
AC005795 Genomic DNA. No translation available.
AC005945 Genomic DNA. No translation available.
CH471126 Genomic DNA. Translation: EAW57042.1.
CH471126 Genomic DNA. Translation: EAW57043.1.
BC013323 mRNA. Translation: AAH13323.1.
CCDSiCCDS33032.1. [Q9NW81-1]
CCDS54269.1. [Q9NW81-3]
CCDS54270.1. [Q9NW81-4]
CCDS54271.1. [Q9NW81-5]
CCDS59389.1. [Q9NW81-2]
CCDS59390.1. [Q9NW81-6]
RefSeqiNP_001161339.1. NM_001167867.1. [Q9NW81-4]
NP_001161340.1. NM_001167868.1. [Q9NW81-3]
NP_001161341.1. NM_001167869.1. [Q9NW81-6]
NP_001161342.1. NM_001167870.1. [Q9NW81-2]
NP_001161343.1. NM_001167871.1. [Q9NW81-5]
NP_001307767.1. NM_001320838.1.
NP_001307769.1. NM_001320840.1.
NP_001307770.1. NM_001320841.1.
NP_060505.2. NM_018035.2. [Q9NW81-1]
UniGeneiHs.351099.

Genome annotation databases

EnsembliENST00000221943; ENSP00000221943; ENSG00000105341. [Q9NW81-1]
ENST00000301183; ENSP00000301183; ENSG00000105341. [Q9NW81-3]
ENST00000417807; ENSP00000403910; ENSG00000105341. [Q9NW81-4]
ENST00000438807; ENSP00000397413; ENSG00000105341. [Q9NW81-2]
ENST00000589970; ENSP00000466485; ENSG00000105341. [Q9NW81-6]
ENST00000592922; ENSP00000467205; ENSG00000105341. [Q9NW81-5]
GeneIDi55101.
KEGGihsa:55101.
UCSCiuc002oqv.4. human. [Q9NW81-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDMAC2_HUMAN
AccessioniPrimary (citable) accession number: Q9NW81
Secondary accession number(s): B4DDC0
, B4DMZ4, B4DP55, B4DXE8, F5H4W7, K7EMF6, Q96D43
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: September 27, 2017
This is version 110 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families