TM242_HUMAN
ID TM242_HUMAN Reviewed; 141 AA.
AC Q9NWH2; B9EJD0; Q9NZ88; Q9P094;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Transmembrane protein 242 {ECO:0000305};
GN Name=TMEM242 {ECO:0000312|HGNC:HGNC:17206}; Synonyms=C6orf35;
GN ORFNames=BM-033, HSPC287;
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].
RC TISSUE=Blood;
RA Ye M., Zhang Q.-H., Zhou J., Shen Y., Wu X.-Y., Guan Z.Q., Wang L.,
RA Fan H.-Y., Mao Y.-F., Dai M., Huang Q.-H., Chen S.-J., Chen Z.;
RT "Human partial CDS from CD34+ stem cells.";
RL Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Bone marrow;
RA Zhao M., Gu J., Li N., Peng Y., Han Z., Chen Z.;
RT "A novel gene expressed in human bone marrow.";
RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Embryo;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [8]
RP SUBCELLULAR LOCATION, TOPOLOGY, INTERACTION WITH ATP5MC3; TMEM70; ACAD9;
RP ECSIT; NDUFAF1; NDUFC2; MT-ND2 AND MT-ND3, AND FUNCTION.
RX PubMed=33753518; DOI=10.1073/pnas.2100558118;
RA Carroll J., He J., Ding S., Fearnley I.M., Walker J.E.;
RT "TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase
RT and interact with assembly factors for complex I.";
RL Proc. Natl. Acad. Sci. U.S.A. 118:0-0(2021).
CC -!- FUNCTION: Scaffold protein that participates in the c-ring assembly of
CC mitochondrial ATP synthase (F(1)F(0) ATP synthase or complex V) by
CC facilitating the membrane insertion and oligomer formation of the
CC subunit c/ATP5MC3 (PubMed:33753518). Participates in the incorporation
CC of the c-ring into vestigial complexes (PubMed:33753518). Additionally
CC influences the incorporation of subunits MT-ATP6, MT-ATP8, ATP5MJ, and
CC ATP5MK in the ATP synthase (PubMed:33753518).
CC {ECO:0000269|PubMed:33753518}.
CC -!- SUBUNIT: Interacts with the core subunits NDUFAF1, ECSIT and ACAD9 of
CC the MCIA complex (PubMed:33753518). Interacts with ATP5MC3, NDUFC2,
CC TMEM70, MT-ND2 AND MT-ND3 (PubMed:33753518).
CC {ECO:0000269|PubMed:33753518}.
CC -!- INTERACTION:
CC Q9NWH2; Q13520: AQP6; NbExp=3; IntAct=EBI-10315004, EBI-13059134;
CC Q9NWH2; Q99437: ATP6V0B; NbExp=3; IntAct=EBI-10315004, EBI-3904417;
CC Q9NWH2; Q9BXK5: BCL2L13; NbExp=3; IntAct=EBI-10315004, EBI-747430;
CC Q9NWH2; P34972: CNR2; NbExp=3; IntAct=EBI-10315004, EBI-2835940;
CC Q9NWH2; P49447: CYB561; NbExp=3; IntAct=EBI-10315004, EBI-8646596;
CC Q9NWH2; Q15125: EBP; NbExp=3; IntAct=EBI-10315004, EBI-3915253;
CC Q9NWH2; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-10315004, EBI-18535450;
CC Q9NWH2; Q9UJ14: GGT7; NbExp=6; IntAct=EBI-10315004, EBI-1058791;
CC Q9NWH2; Q9H3K2: GHITM; NbExp=3; IntAct=EBI-10315004, EBI-2868909;
CC Q9NWH2; P48165: GJA8; NbExp=3; IntAct=EBI-10315004, EBI-17458373;
CC Q9NWH2; Q6ZVE7: GOLT1A; NbExp=3; IntAct=EBI-10315004, EBI-17231387;
CC Q9NWH2; O15529: GPR42; NbExp=3; IntAct=EBI-10315004, EBI-18076404;
CC Q9NWH2; Q7Z429: GRINA; NbExp=3; IntAct=EBI-10315004, EBI-2832909;
CC Q9NWH2; Q8NBQ5: HSD17B11; NbExp=3; IntAct=EBI-10315004, EBI-1052304;
CC Q9NWH2; Q13651: IL10RA; NbExp=3; IntAct=EBI-10315004, EBI-1031656;
CC Q9NWH2; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-10315004, EBI-10266796;
CC Q9NWH2; Q8NA29-2: MFSD2A; NbExp=3; IntAct=EBI-10315004, EBI-9641334;
CC Q9NWH2; Q6ZSS7: MFSD6; NbExp=3; IntAct=EBI-10315004, EBI-2858252;
CC Q9NWH2; Q15800: MSMO1; NbExp=3; IntAct=EBI-10315004, EBI-949102;
CC Q9NWH2; Q9H2K0: MTIF3; NbExp=3; IntAct=EBI-10315004, EBI-3923617;
CC Q9NWH2; O95167: NDUFA3; NbExp=3; IntAct=EBI-10315004, EBI-1246131;
CC Q9NWH2; P60201-2: PLP1; NbExp=3; IntAct=EBI-10315004, EBI-12188331;
CC Q9NWH2; Q99942: RNF5; NbExp=3; IntAct=EBI-10315004, EBI-348482;
CC Q9NWH2; O95470: SGPL1; NbExp=3; IntAct=EBI-10315004, EBI-1046170;
CC Q9NWH2; Q14973: SLC10A1; NbExp=3; IntAct=EBI-10315004, EBI-3923031;
CC Q9NWH2; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-10315004, EBI-18159983;
CC Q9NWH2; Q9BZV2: SLC19A3; NbExp=3; IntAct=EBI-10315004, EBI-3923779;
CC Q9NWH2; Q99726: SLC30A3; NbExp=3; IntAct=EBI-10315004, EBI-10294651;
CC Q9NWH2; P57105: SYNJ2BP; NbExp=3; IntAct=EBI-10315004, EBI-1049004;
CC Q9NWH2; Q969X1: TMBIM1; NbExp=3; IntAct=EBI-10315004, EBI-2820569;
CC Q9NWH2; Q7Z7N9: TMEM179B; NbExp=3; IntAct=EBI-10315004, EBI-11724423;
CC Q9NWH2; Q9NW97: TMEM51; NbExp=3; IntAct=EBI-10315004, EBI-726044;
CC Q9NWH2; Q96FB2; NbExp=3; IntAct=EBI-10315004, EBI-2857623;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:33753518}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:33753518}.
CC -!- SIMILARITY: Belongs to the TMEM242 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF28965.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAF67621.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF161405; AAF28965.1; ALT_INIT; mRNA.
DR EMBL; AF217510; AAF67621.1; ALT_FRAME; mRNA.
DR EMBL; AK000891; BAA91409.1; -; mRNA.
DR EMBL; AL607068; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL390955; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW47677.1; -; Genomic_DNA.
DR EMBL; BC029130; AAH29130.1; -; mRNA.
DR EMBL; BC146893; AAI46894.1; -; mRNA.
DR EMBL; BC146895; AAI46896.1; -; mRNA.
DR CCDS; CCDS43519.1; -.
DR RefSeq; NP_060922.2; NM_018452.5.
DR AlphaFoldDB; Q9NWH2; -.
DR BioGRID; 609914; 54.
DR IntAct; Q9NWH2; 38.
DR MINT; Q9NWH2; -.
DR STRING; 9606.ENSP00000383594; -.
DR TCDB; 8.A.181.1.1; the tmem242 protein complex assembly factor (tmem242) famly.
DR iPTMnet; Q9NWH2; -.
DR PhosphoSitePlus; Q9NWH2; -.
DR BioMuta; TMEM242; -.
DR DMDM; 74753021; -.
DR EPD; Q9NWH2; -.
DR jPOST; Q9NWH2; -.
DR MassIVE; Q9NWH2; -.
DR MaxQB; Q9NWH2; -.
DR PaxDb; Q9NWH2; -.
DR PeptideAtlas; Q9NWH2; -.
DR PRIDE; Q9NWH2; -.
DR ProteomicsDB; 82937; -.
DR TopDownProteomics; Q9NWH2; -.
DR Antibodypedia; 49845; 43 antibodies from 8 providers.
DR DNASU; 729515; -.
DR Ensembl; ENST00000400788.9; ENSP00000383594.3; ENSG00000215712.11.
DR GeneID; 729515; -.
DR KEGG; hsa:729515; -.
DR MANE-Select; ENST00000400788.9; ENSP00000383594.3; NM_018452.6; NP_060922.2.
DR UCSC; uc003sih.5; human.
DR CTD; 729515; -.
DR GeneCards; TMEM242; -.
DR HGNC; HGNC:17206; TMEM242.
DR HPA; ENSG00000215712; Low tissue specificity.
DR neXtProt; NX_Q9NWH2; -.
DR OpenTargets; ENSG00000215712; -.
DR PharmGKB; PA25936; -.
DR VEuPathDB; HostDB:ENSG00000215712; -.
DR eggNOG; ENOG502S2GB; Eukaryota.
DR GeneTree; ENSGT00390000008642; -.
DR HOGENOM; CLU_115460_0_0_1; -.
DR InParanoid; Q9NWH2; -.
DR OMA; YAVMGTG; -.
DR OrthoDB; 1298607at2759; -.
DR PhylomeDB; Q9NWH2; -.
DR TreeFam; TF323317; -.
DR PathwayCommons; Q9NWH2; -.
DR SignaLink; Q9NWH2; -.
DR BioGRID-ORCS; 729515; 167 hits in 1076 CRISPR screens.
DR GeneWiki; C6orf35; -.
DR GenomeRNAi; 729515; -.
DR Pharos; Q9NWH2; Tdark.
DR PRO; PR:Q9NWH2; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9NWH2; protein.
DR Bgee; ENSG00000215712; Expressed in buccal mucosa cell and 186 other tissues.
DR ExpressionAtlas; Q9NWH2; baseline and differential.
DR Genevisible; Q9NWH2; 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:0033615; P:mitochondrial proton-transporting ATP synthase complex assembly; IMP:UniProtKB.
DR InterPro; IPR009792; TMEM242.
DR PANTHER; PTHR13141; PTHR13141; 1.
DR Pfam; PF07096; DUF1358; 1.
PE 1: Evidence at protein level;
KW Acetylation; Membrane; Mitochondrion; Mitochondrion inner membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..141
FT /note="Transmembrane protein 242"
FT /id="PRO_0000295848"
FT TOPO_DOM 1..29
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000305|PubMed:33753518"
FT TRANSMEM 30..50
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 51..81
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000305|PubMed:33753518"
FT TRANSMEM 82..102
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 103..141
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000305|PubMed:33753518"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
SQ SEQUENCE 141 AA; 14758 MW; 448CDA01809A2B37 CRC64;
METAGAATGQ PASGLEAPGS TNDRLFLVKG GIFLGTVAAA GMLAGFITTL SLAKKKSPEW
FNKGSMATAA LPESGSSLAL RALGWGSLYA WCGVGVISFA VWKALGVHSM NDFRSKMQSI
FPTIPKNSES AVEWEETLKS K
