FMC1_HUMAN
ID FMC1_HUMAN Reviewed; 113 AA.
AC Q96HJ9; B7Z4Q3; Q75M90; Q9P0B3;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Protein FMC1 homolog;
DE AltName: Full=ATP synthase assembly factor FMC1, mitochondrial {ECO:0000312|HGNC:HGNC:26946};
DE AltName: Full=Formation of mitochondrial complex V assembly factor 1 homolog {ECO:0000312|HGNC:HGNC:26946};
GN Name=FMC1 {ECO:0000312|HGNC:HGNC:26946}; Synonyms=C7orf55;
GN ORFNames=HSPC268;
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=Brain;
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 MRNA] (ISOFORM 1).
RC TISSUE=Umbilical cord 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-8.
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 [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
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, SUBCELLULAR LOCATION, AND INTERACTION WITH ATPAF2.
RX PubMed=28719601; DOI=10.1371/journal.pcbi.1005653;
RA Li Y., Jourdain A.A., Calvo S.E., Liu J.S., Mootha V.K.;
RT "CLIC, a tool for expanding biological pathways based on co-expression
RT across thousands of datasets.";
RL PLoS Comput. Biol. 13:E1005653-E1005653(2017).
CC -!- FUNCTION: Plays a role in the assembly/stability of the mitochondrial
CC membrane ATP synthase (F(1)F(0) ATP synthase or Complex V)
CC (PubMed:28719601). {ECO:0000269|PubMed:28719601}.
CC -!- SUBUNIT: Interacts with ATPAF2 (PubMed:28719601).
CC {ECO:0000269|PubMed:28719601}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:28719601}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96HJ9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96HJ9-2; Sequence=VSP_047244;
CC -!- SIMILARITY: Belongs to the FMC1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF28946.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAF28946.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK297642; BAH12639.1; -; mRNA.
DR EMBL; AF161386; AAF28946.1; ALT_SEQ; mRNA.
DR EMBL; AC083880; AAS07478.1; -; Genomic_DNA.
DR EMBL; AC083883; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471070; EAW83915.1; -; Genomic_DNA.
DR EMBL; BC008467; AAH08467.1; -; mRNA.
DR CCDS; CCDS5853.1; -. [Q96HJ9-1]
DR RefSeq; NP_001231513.1; NM_001244584.2. [Q96HJ9-2]
DR RefSeq; NP_932068.2; NM_197964.4. [Q96HJ9-1]
DR AlphaFoldDB; Q96HJ9; -.
DR SMR; Q96HJ9; -.
DR BioGRID; 127556; 54.
DR BioGRID; 3190610; 19.
DR IntAct; Q96HJ9; 76.
DR STRING; 9606.ENSP00000297534; -.
DR iPTMnet; Q96HJ9; -.
DR PhosphoSitePlus; Q96HJ9; -.
DR BioMuta; FMC1; -.
DR DMDM; 182627648; -.
DR EPD; Q96HJ9; -.
DR jPOST; Q96HJ9; -.
DR MassIVE; Q96HJ9; -.
DR MaxQB; Q96HJ9; -.
DR PaxDb; Q96HJ9; -.
DR PeptideAtlas; Q96HJ9; -.
DR PRIDE; Q96HJ9; -.
DR ProteomicsDB; 6622; -.
DR ProteomicsDB; 76758; -. [Q96HJ9-1]
DR Antibodypedia; 71139; 8 antibodies from 4 providers.
DR DNASU; 154791; -.
DR DNASU; 51631; -.
DR Ensembl; ENST00000297534.7; ENSP00000297534.6; ENSG00000164898.13. [Q96HJ9-1]
DR GeneID; 100996928; -.
DR GeneID; 154791; -.
DR KEGG; hsa:100996928; -.
DR KEGG; hsa:154791; -.
DR MANE-Select; ENST00000297534.7; ENSP00000297534.6; NM_197964.5; NP_932068.2.
DR UCSC; uc003vuw.5; human. [Q96HJ9-1]
DR CTD; 100996928; -.
DR CTD; 154791; -.
DR DisGeNET; 100996928; -.
DR DisGeNET; 154791; -.
DR GeneCards; FMC1; -.
DR HGNC; HGNC:26946; FMC1.
DR HPA; ENSG00000164898; Low tissue specificity.
DR neXtProt; NX_Q96HJ9; -.
DR OpenTargets; ENSG00000164898; -.
DR OpenTargets; ENSG00000269955; -.
DR PharmGKB; PA164717374; -.
DR VEuPathDB; HostDB:ENSG00000164898; -.
DR eggNOG; ENOG502S1MM; Eukaryota.
DR GeneTree; ENSGT00390000012258; -.
DR GeneTree; ENSGT00950000183213; -.
DR HOGENOM; CLU_159000_0_0_1; -.
DR InParanoid; Q96HJ9; -.
DR OMA; QEAHHAS; -.
DR PhylomeDB; Q96HJ9; -.
DR TreeFam; TF321497; -.
DR PathwayCommons; Q96HJ9; -.
DR SignaLink; Q96HJ9; -.
DR BioGRID-ORCS; 100996928; 470 hits in 1001 CRISPR screens.
DR BioGRID-ORCS; 154791; 8 hits in 1009 CRISPR screens.
DR Pharos; Q96HJ9; Tbio.
DR PRO; PR:Q96HJ9; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q96HJ9; protein.
DR Bgee; ENSG00000164898; Expressed in left testis and 94 other tissues.
DR Genevisible; Q96HJ9; HS.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0033615; P:mitochondrial proton-transporting ATP synthase complex assembly; IMP:UniProtKB.
DR GO; GO:0050995; P:negative regulation of lipid catabolic process; IEA:Ensembl.
DR GO; GO:0061469; P:regulation of type B pancreatic cell proliferation; IEA:Ensembl.
DR InterPro; IPR037667; FMC1_homologue.
DR PANTHER; PTHR31716; PTHR31716; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Mitochondrion; Reference proteome.
FT CHAIN 1..113
FT /note="Protein FMC1 homolog"
FT /id="PRO_0000328780"
FT REGION 94..113
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 88..113
FT /note="ERSVEESAGLVGLKLPHQPGGKGWEP -> DTTRQRIKFSDDRVCKSHLLNC
FT CPHDVLSGTRMDLGECLKVHDLALRADYEIASKEQDFFFELDAMDHLQSFIADCDRRTE
FT VAKKRLAETQEEISAEVAAKAERVHELNEEIGKLLAKVEQLGAEGNVEESQKVMDEVEK
FT ARAKKREAEEVYRNSMPASSFQQQKLRVCEVCSAYLGLHDNDRRLADHFGGKLHLGFIE
FT IREKLEELKRVVAEKQEKRNQERLKRREEREREEREKLRRSRSHSKNPKRSRSREHRRH
FT RSRSMSRERKRRTRSKSREKRHRHRSRSSSRSRSRSHQRSRHSSRDRSRERSKRRSSKE
FT RFRDQDLASCDRDRSSRDRSPRDRDRKDKKRSYESANGRSEDRRSSEEREAGEI (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047244"
FT VARIANT 8
FT /note="S -> A (in dbSNP:rs10265)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042520"
SQ SEQUENCE 113 AA; 12749 MW; 98233A93133877C9 CRC64;
MAALGSPSHT FRGLLRELRY LSAATGRPYR DTAAYRYLVK AFRAHRVTSE KLCRAQHELH
FQAATYLCLL RSIRKHVALH QEFHGKGERS VEESAGLVGL KLPHQPGGKG WEP
