MTFR1_HUMAN
ID MTFR1_HUMAN Reviewed; 333 AA.
AC Q15390; E7EP84; Q6IB94; Q7Z669; Q86XH5; Q8IVD7;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 30-AUG-2005, sequence version 2.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Mitochondrial fission regulator 1;
DE AltName: Full=Chondrocyte protein with a poly-proline region;
DE Flags: Precursor;
GN Name=MTFR1; Synonyms=CHPPR, FAM54A2, KIAA0009;
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 GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung, and Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 11-333 (ISOFORM 2).
RC TISSUE=Liver;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-333 (ISOFORM 1).
RC TISSUE=Bone marrow;
RX PubMed=7584026; DOI=10.1093/dnares/1.1.27;
RA Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S.,
RA Nagase T., Seki N., Ishikawa K., Tabata S.;
RT "Prediction of the coding sequences of unidentified human genes. I. The
RT coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of
RT randomly sampled cDNA clones from human immature myeloid cell line KG-1.";
RL DNA Res. 1:27-35(1994).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 20-333 (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-119, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-119, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-119, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and 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 [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-119, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: May play a role in mitochondrial aerobic respiration. May
CC also regulate mitochondrial organization and fission (By similarity).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q15390; Q9NR28: DIABLO; NbExp=3; IntAct=EBI-724207, EBI-517508;
CC Q15390; Q17RD7: SYT16; NbExp=3; IntAct=EBI-724207, EBI-10238936;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Note=May be
CC associated with the inner and the outer mitochondrial membrane.
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q15390-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q15390-2; Sequence=VSP_046765;
CC -!- SIMILARITY: Belongs to the MTFR1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA02798.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC055822; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036116; AAH36116.1; -; mRNA.
DR EMBL; BC043498; AAH43498.1; -; mRNA.
DR EMBL; BX537854; CAD97862.1; -; mRNA.
DR EMBL; D13634; BAA02798.1; ALT_INIT; mRNA.
DR EMBL; CR456910; CAG33191.1; -; mRNA.
DR CCDS; CCDS55240.1; -. [Q15390-2]
DR CCDS; CCDS6182.1; -. [Q15390-1]
DR RefSeq; NP_001139310.1; NM_001145838.1. [Q15390-2]
DR RefSeq; NP_055452.3; NM_014637.3. [Q15390-1]
DR AlphaFoldDB; Q15390; -.
DR SMR; Q15390; -.
DR BioGRID; 115008; 63.
DR IntAct; Q15390; 24.
DR MINT; Q15390; -.
DR STRING; 9606.ENSP00000262146; -.
DR iPTMnet; Q15390; -.
DR PhosphoSitePlus; Q15390; -.
DR BioMuta; MTFR1; -.
DR DMDM; 73920234; -.
DR EPD; Q15390; -.
DR jPOST; Q15390; -.
DR MassIVE; Q15390; -.
DR MaxQB; Q15390; -.
DR PaxDb; Q15390; -.
DR PeptideAtlas; Q15390; -.
DR PRIDE; Q15390; -.
DR ProteomicsDB; 17303; -.
DR ProteomicsDB; 60560; -. [Q15390-1]
DR Antibodypedia; 11925; 120 antibodies from 23 providers.
DR DNASU; 9650; -.
DR Ensembl; ENST00000262146.9; ENSP00000262146.4; ENSG00000066855.16. [Q15390-1]
DR Ensembl; ENST00000458689.2; ENSP00000391502.2; ENSG00000066855.16. [Q15390-2]
DR GeneID; 9650; -.
DR KEGG; hsa:9650; -.
DR MANE-Select; ENST00000262146.9; ENSP00000262146.4; NM_014637.4; NP_055452.3.
DR UCSC; uc003xvm.3; human. [Q15390-1]
DR CTD; 9650; -.
DR GeneCards; MTFR1; -.
DR HGNC; HGNC:29510; MTFR1.
DR HPA; ENSG00000066855; Low tissue specificity.
DR MIM; 619414; gene.
DR neXtProt; NX_Q15390; -.
DR OpenTargets; ENSG00000066855; -.
DR PharmGKB; PA142671305; -.
DR VEuPathDB; HostDB:ENSG00000066855; -.
DR eggNOG; ENOG502QSSN; Eukaryota.
DR GeneTree; ENSGT00950000183215; -.
DR HOGENOM; CLU_059135_0_0_1; -.
DR InParanoid; Q15390; -.
DR OMA; KKPEIPN; -.
DR OrthoDB; 1485791at2759; -.
DR PhylomeDB; Q15390; -.
DR TreeFam; TF331404; -.
DR PathwayCommons; Q15390; -.
DR SignaLink; Q15390; -.
DR BioGRID-ORCS; 9650; 12 hits in 1045 CRISPR screens.
DR ChiTaRS; MTFR1; human.
DR GenomeRNAi; 9650; -.
DR Pharos; Q15390; Tbio.
DR PRO; PR:Q15390; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q15390; protein.
DR Bgee; ENSG00000066855; Expressed in secondary oocyte and 202 other tissues.
DR ExpressionAtlas; Q15390; baseline and differential.
DR Genevisible; Q15390; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0009060; P:aerobic respiration; ISS:UniProtKB.
DR GO; GO:0000266; P:mitochondrial fission; ISS:UniProtKB.
DR GO; GO:0007005; P:mitochondrion organization; ISS:UniProtKB.
DR InterPro; IPR007972; Mtfr1.
DR PANTHER; PTHR14215; PTHR14215; 1.
DR Pfam; PF05308; Mito_fiss_reg; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Mitochondrion; Phosphoprotein;
KW Reference proteome; Transit peptide.
FT TRANSIT 1..48
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 49..333
FT /note="Mitochondrial fission regulator 1"
FT /id="PRO_0000096622"
FT REGION 177..198
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 179..304
FT /note="Necessary and sufficient to promote mitochondrial
FT fission"
FT /evidence="ECO:0000250"
FT REGION 288..315
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 137..169
FT /evidence="ECO:0000255"
FT COMPBIAS 182..198
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 288..303
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 119
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
FT ECO:0007744|PubMed:24275569"
FT VAR_SEQ 23..55
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_046765"
FT CONFLICT 135
FT /note="L -> R (in Ref. 1; AAH36116)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 333 AA; 37000 MW; ED8025FCF1B44827 CRC64;
MLGWIKRLIR MVFQQVGVSM QSVLWSRKPY GSSRSIVRKI GTNLSLIQCP RVQFQINSHA
TEWSPSHPGE DAVASFADVG WVAKEEGECS ARLRTEVRSR PPLQDDLLFF EKAPSRQISL
PDLSQEEPQL KTPALANEEA LQKICALENE LAALRAQIAK IVTQQEQQNL TAGDLDSTTF
GTIPPHPPPP PPPLPPPALG LHQSTSAVDL IKERREKRAN AGKTLVKNNP KKPEMPNMLE
ILKEMNSVKL RSVKRSEQDV KPKPVDATDP AALIAEALKK KFAYRYRSDS QDEVEKGIPK
SESEATSERV LFGPHMLKPT GKMKALIENV SDS