DMAC2_HUMAN
ID DMAC2_HUMAN Reviewed; 257 AA.
AC Q9NW81; B4DDC0; B4DMZ4; B4DP55; B4DXE8; F5H4W7; K7EMF6; Q96D43;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Distal membrane-arm assembly complex protein 2 {ECO:0000305};
DE AltName: Full=ATP synthase subunit s-like protein {ECO:0000305};
GN Name=DMAC2 {ECO:0000312|HGNC:HGNC:25496};
GN Synonyms=ATP5SL {ECO:0000312|HGNC:HGNC:25496};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3; 4; 5 AND 6), AND
RP VARIANTS ARG-23; SER-34 AND SER-159.
RC TISSUE=Lung, Neuroblastoma, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Bone marrow;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-253, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP SUBUNIT.
RX PubMed=24191001; DOI=10.1073/pnas.1319247110;
RA Andrews B., Carroll J., Ding S., Fearnley I.M., Walker J.E.;
RT "Assembly factors for the membrane arm of human complex I.";
RL Proc. Natl. Acad. Sci. U.S.A. 110:18934-18939(2013).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [8]
RP FUNCTION.
RX PubMed=27626371; DOI=10.1038/nature19754;
RA Stroud D.A., Surgenor E.E., Formosa L.E., Reljic B., Frazier A.E.,
RA Dibley M.G., Osellame L.D., Stait T., Beilharz T.H., Thorburn D.R.,
RA Salim A., Ryan M.T.;
RT "Accessory subunits are integral for assembly and function of human
RT mitochondrial complex I.";
RL Nature 538:123-126(2016).
CC -!- FUNCTION: Required for the assembly of the mitochondrial
CC NADH:ubiquinone oxidoreductase complex (complex I). Involved in the
CC assembly of the distal region of complex I.
CC {ECO:0000269|PubMed:27626371}.
CC -!- SUBUNIT: Interacts with incompletely assembled mitochondrial
CC NADH:ubiquinone oxidoreductase complex (complex I).
CC {ECO:0000269|PubMed:24191001}.
CC -!- INTERACTION:
CC Q9NW81-2; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-22730614, EBI-3867333;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q9D7K5}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q9NW81-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NW81-2; Sequence=VSP_031270, VSP_031271;
CC Name=3;
CC IsoId=Q9NW81-3; Sequence=VSP_043807, VSP_031271;
CC Name=4;
CC IsoId=Q9NW81-4; Sequence=VSP_043807;
CC Name=5;
CC IsoId=Q9NW81-5; Sequence=VSP_031270;
CC Name=6;
CC IsoId=Q9NW81-6; Sequence=VSP_031271;
CC -!- SIMILARITY: Belongs to the ATP synthase subunit s family.
CC {ECO:0000305}.
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DR EMBL; AK001103; BAA91503.1; -; mRNA.
DR EMBL; AK293132; BAG56681.1; -; mRNA.
DR EMBL; AK297698; BAG60056.1; -; mRNA.
DR EMBL; AK298197; BAG60467.1; -; mRNA.
DR EMBL; AK301940; BAG63360.1; -; mRNA.
DR EMBL; AC011526; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC005795; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC005945; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471126; EAW57042.1; -; Genomic_DNA.
DR EMBL; CH471126; EAW57043.1; -; Genomic_DNA.
DR EMBL; BC013323; AAH13323.1; -; mRNA.
DR CCDS; CCDS33032.1; -. [Q9NW81-1]
DR CCDS; CCDS54269.1; -. [Q9NW81-3]
DR CCDS; CCDS54270.1; -. [Q9NW81-4]
DR CCDS; CCDS54271.1; -. [Q9NW81-5]
DR CCDS; CCDS59389.1; -. [Q9NW81-2]
DR CCDS; CCDS59390.1; -. [Q9NW81-6]
DR RefSeq; NP_001161339.1; NM_001167867.1. [Q9NW81-4]
DR RefSeq; NP_001161340.1; NM_001167868.1. [Q9NW81-3]
DR RefSeq; NP_001161341.1; NM_001167869.1. [Q9NW81-6]
DR RefSeq; NP_001161342.1; NM_001167870.1. [Q9NW81-2]
DR RefSeq; NP_001161343.1; NM_001167871.1. [Q9NW81-5]
DR RefSeq; NP_001307767.1; NM_001320838.1.
DR RefSeq; NP_001307769.1; NM_001320840.1.
DR RefSeq; NP_001307770.1; NM_001320841.1.
DR RefSeq; NP_060505.2; NM_018035.2. [Q9NW81-1]
DR AlphaFoldDB; Q9NW81; -.
DR SMR; Q9NW81; -.
DR BioGRID; 120411; 21.
DR IntAct; Q9NW81; 3.
DR STRING; 9606.ENSP00000403910; -.
DR GlyGen; Q9NW81; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9NW81; -.
DR PhosphoSitePlus; Q9NW81; -.
DR BioMuta; DMAC2; -.
DR DMDM; 296439436; -.
DR EPD; Q9NW81; -.
DR jPOST; Q9NW81; -.
DR MassIVE; Q9NW81; -.
DR MaxQB; Q9NW81; -.
DR PaxDb; Q9NW81; -.
DR PeptideAtlas; Q9NW81; -.
DR PRIDE; Q9NW81; -.
DR ProteomicsDB; 26695; -.
DR ProteomicsDB; 82910; -. [Q9NW81-1]
DR ProteomicsDB; 82911; -. [Q9NW81-2]
DR ProteomicsDB; 82912; -. [Q9NW81-3]
DR Antibodypedia; 62280; 32 antibodies from 10 providers.
DR DNASU; 55101; -.
DR Ensembl; ENST00000221943.14; ENSP00000221943.8; ENSG00000105341.19. [Q9NW81-1]
DR Ensembl; ENST00000301183.15; ENSP00000301183.9; ENSG00000105341.19. [Q9NW81-3]
DR Ensembl; ENST00000417807.7; ENSP00000403910.2; ENSG00000105341.19. [Q9NW81-4]
DR Ensembl; ENST00000438807.7; ENSP00000397413.3; ENSG00000105341.19. [Q9NW81-2]
DR Ensembl; ENST00000589970.5; ENSP00000466485.1; ENSG00000105341.19. [Q9NW81-6]
DR Ensembl; ENST00000592922.6; ENSP00000467205.1; ENSG00000105341.19. [Q9NW81-5]
DR GeneID; 55101; -.
DR KEGG; hsa:55101; -.
DR MANE-Select; ENST00000221943.14; ENSP00000221943.8; NM_018035.3; NP_060505.2.
DR UCSC; uc002oqv.4; human. [Q9NW81-1]
DR CTD; 55101; -.
DR DisGeNET; 55101; -.
DR GeneCards; DMAC2; -.
DR HGNC; HGNC:25496; DMAC2.
DR HPA; ENSG00000105341; Low tissue specificity.
DR neXtProt; NX_Q9NW81; -.
DR OpenTargets; ENSG00000105341; -.
DR PharmGKB; PA162377263; -.
DR VEuPathDB; HostDB:ENSG00000105341; -.
DR eggNOG; KOG3864; Eukaryota.
DR GeneTree; ENSGT00940000160500; -.
DR HOGENOM; CLU_1421014_0_0_1; -.
DR InParanoid; Q9NW81; -.
DR OMA; EEADMSY; -.
DR OrthoDB; 1458966at2759; -.
DR PhylomeDB; Q9NW81; -.
DR TreeFam; TF315274; -.
DR PathwayCommons; Q9NW81; -.
DR SignaLink; Q9NW81; -.
DR BioGRID-ORCS; 55101; 68 hits in 1085 CRISPR screens.
DR ChiTaRS; ATP5SL; human.
DR GeneWiki; ATP5SL; -.
DR GenomeRNAi; 55101; -.
DR Pharos; Q9NW81; Tbio.
DR PRO; PR:Q9NW81; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9NW81; protein.
DR Bgee; ENSG00000105341; Expressed in apex of heart and 202 other tissues.
DR ExpressionAtlas; Q9NW81; baseline and differential.
DR Genevisible; Q9NW81; HS.
DR GO; GO:0005739; C:mitochondrion; IEA:UniProtKB-SubCell.
DR GO; GO:0019005; C:SCF ubiquitin ligase complex; IBA:GO_Central.
DR GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB.
DR GO; GO:0031146; P:SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; IBA:GO_Central.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR032675; LRR_dom_sf.
PE 1: Evidence at protein level;
KW Alternative splicing; Mitochondrion; Phosphoprotein; Reference proteome.
FT CHAIN 1..257
FT /note="Distal membrane-arm assembly complex protein 2"
FT /id="PRO_0000318695"
FT MOD_RES 253
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..6
FT /note="MAAPWA -> MWDLVLEDRRMN (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043807"
FT VAR_SEQ 73..99
FT /note="Missing (in isoform 2 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031270"
FT VAR_SEQ 145..257
FT /note="LRLKELQSLSLQRCCHVDDWCLSRLYPLADSLQELSLAGCPRISERGLACLH
FT HLQNLRRLDISDLPAVSNPGLTQILVEEMLPNCEVVGVDWAEGLKSGPEEQPRDTASPV
FT PA -> RTSAGWTSRTSLPCPTLASLRYWWRRCCPIARLWESTGLRA (in isoform
FT 2, isoform 3 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031271"
FT VARIANT 9
FT /note="R -> C (in dbSNP:rs2231938)"
FT /id="VAR_057798"
FT VARIANT 23
FT /note="H -> R (in dbSNP:rs2231939)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_057799"
FT VARIANT 34
FT /note="N -> S (in dbSNP:rs2231940)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_057800"
FT VARIANT 159
FT /note="C -> S (in dbSNP:rs1043413)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_060165"
FT VARIANT 230
FT /note="E -> K (in dbSNP:rs2231943)"
FT /id="VAR_057801"
FT CONFLICT 128
FT /note="A -> S (in Ref. 1; BAG60467)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 257 AA; 29267 MW; 29CBFD02143DE806 CRC64;
MAAPWASLRL VAPMWNGRIR GIHRLGAAVA PEGNQKKKRT ILQFLTNYFY DVEALRDYLL
QREMYKVHEK NRSYTWLEKQ HGPYGAGAFF ILKQGGAVKF RDKEWIRPDK YGHFSQEFWN
FCEVPVEAVD AGDCDINYEG LDNLLRLKEL QSLSLQRCCH VDDWCLSRLY PLADSLQELS
LAGCPRISER GLACLHHLQN LRRLDISDLP AVSNPGLTQI LVEEMLPNCE VVGVDWAEGL
KSGPEEQPRD TASPVPA
