DMAC1_HUMAN
ID DMAC1_HUMAN Reviewed; 116 AA.
AC Q96GE9; A8K9B7; Q5T6Y9; Q9NT74;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Distal membrane-arm assembly complex protein 1 {ECO:0000303|PubMed:27626371};
DE AltName: Full=Transmembrane protein 261 {ECO:0000305};
GN Name=DMAC1 {ECO:0000303|PubMed:27626371, ECO:0000312|HGNC:HGNC:30536};
GN Synonyms=C9orf123 {ECO:0000312|HGNC:HGNC:30536},
GN TMEM261 {ECO:0000312|HGNC:HGNC:30536};
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] (ISOFORM 2).
RC TISSUE=Thymus;
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=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 42-115 (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP FUNCTION, SUBUNIT, AND SUBCELLULAR LOCATION.
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:27626371}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:27626371}; Multi-pass membrane protein
CC {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96GE9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96GE9-2; Sequence=VSP_014455;
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DR EMBL; AK292632; BAF85321.1; -; mRNA.
DR EMBL; AL354694; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471071; EAW58728.1; -; Genomic_DNA.
DR EMBL; BC009510; AAH09510.1; -; mRNA.
DR EMBL; AL137489; CAB70768.3; -; mRNA.
DR CCDS; CCDS34989.1; -. [Q96GE9-2]
DR PIR; T46473; T46473.
DR RefSeq; NP_001304987.1; NM_001318058.1. [Q96GE9-1]
DR RefSeq; NP_001304988.1; NM_001318059.1.
DR RefSeq; NP_219500.1; NM_033428.2. [Q96GE9-2]
DR AlphaFoldDB; Q96GE9; -.
DR BioGRID; 124777; 21.
DR IntAct; Q96GE9; 2.
DR STRING; 9606.ENSP00000350961; -.
DR GlyGen; Q96GE9; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96GE9; -.
DR PhosphoSitePlus; Q96GE9; -.
DR BioMuta; DMAC1; -.
DR EPD; Q96GE9; -.
DR jPOST; Q96GE9; -.
DR MassIVE; Q96GE9; -.
DR MaxQB; Q96GE9; -.
DR PaxDb; Q96GE9; -.
DR PeptideAtlas; Q96GE9; -.
DR PRIDE; Q96GE9; -.
DR ProteomicsDB; 76630; -. [Q96GE9-1]
DR ProteomicsDB; 76631; -. [Q96GE9-2]
DR Antibodypedia; 3009; 19 antibodies from 10 providers.
DR DNASU; 90871; -.
DR Ensembl; ENST00000358227.5; ENSP00000350961.4; ENSG00000137038.8. [Q96GE9-2]
DR GeneID; 90871; -.
DR KEGG; hsa:90871; -.
DR MANE-Select; ENST00000358227.5; ENSP00000350961.4; NM_033428.3; NP_219500.1. [Q96GE9-2]
DR UCSC; uc003zkj.4; human. [Q96GE9-1]
DR CTD; 90871; -.
DR GeneCards; DMAC1; -.
DR HGNC; HGNC:30536; DMAC1.
DR HPA; ENSG00000137038; Low tissue specificity.
DR neXtProt; NX_Q96GE9; -.
DR OpenTargets; ENSG00000137038; -.
DR PharmGKB; PA134876562; -.
DR VEuPathDB; HostDB:ENSG00000137038; -.
DR eggNOG; ENOG502S9M0; Eukaryota.
DR GeneTree; ENSGT00390000003343; -.
DR HOGENOM; CLU_171933_0_0_1; -.
DR InParanoid; Q96GE9; -.
DR OMA; WSCRILS; -.
DR OrthoDB; 1596163at2759; -.
DR PhylomeDB; Q96GE9; -.
DR TreeFam; TF330733; -.
DR PathwayCommons; Q96GE9; -.
DR SignaLink; Q96GE9; -.
DR BioGRID-ORCS; 90871; 103 hits in 1059 CRISPR screens.
DR GenomeRNAi; 90871; -.
DR Pharos; Q96GE9; Tbio.
DR PRO; PR:Q96GE9; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q96GE9; protein.
DR Bgee; ENSG00000137038; Expressed in left ventricle myocardium and 186 other tissues.
DR Genevisible; Q96GE9; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:UniProtKB.
DR GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB.
DR InterPro; IPR028036; DUF4536.
DR Pfam; PF15055; DUF4536; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..116
FT /note="Distal membrane-arm assembly complex protein 1"
FT /id="PRO_0000089729"
FT TRANSMEM 52..69
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 82..104
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..39
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 21..35
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 93..96
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_014455"
FT VARIANT 28
FT /note="P -> T (in dbSNP:rs1127430)"
FT /id="VAR_056819"
SQ SEQUENCE 116 AA; 12257 MW; 3D70531C124A723F CRC64;
MGSRLSQPFE SYITAPPGTA AAPAKPAPPA TPGAPTSPAE HRLLKTCWSC RVLSGLGLMG
AGGYVYWVAR KPMKMGYPPS PWTITQMVIG LSENQGIATW GIVVMADPKG KAYRVV
