MFI_HUMAN
ID MFI_HUMAN Reviewed; 313 AA.
AC Q8NCR3; B4DZU4; Q6PCA8;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Protein MFI {ECO:0000305};
DE AltName: Full=Mitochondrial fission factor interactor {ECO:0000303|PubMed:30059978};
GN Name=MFI {ECO:0000303|PubMed:30059978}; Synonyms=C11orf65;
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=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=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 [4]
RP TISSUE SPECIFICITY.
RX PubMed=30059978; DOI=10.1210/en.2018-00426;
RA Lee J., Pappalardo Z., Chopra D.G., Hennings T.G., Vaughn I., Lan C.,
RA Choe J.J., Ang K., Chen S., Arkin M., McManus M.T., German M.S., Ku G.M.;
RT "A Genetic Interaction Map of Insulin Production Identifies Mfi as an
RT Inhibitor of Mitochondrial Fission.";
RL Endocrinology 159:3321-3330(2018).
CC -!- FUNCTION: Acts as an inhibitor of mitochondrial fission. Interacts with
CC MFF and prevents DNM1L recruitment to mitochondria, promoting a more
CC fused mitochondrial network. {ECO:0000250|UniProtKB:Q9D4W2}.
CC -!- SUBUNIT: Can homodimerize. Interacts with MFF; the interaction inhibits
CC MFF interaction with DNM1L. {ECO:0000250|UniProtKB:Q9D4W2}.
CC -!- INTERACTION:
CC Q8NCR3; O43865: AHCYL1; NbExp=3; IntAct=EBI-744790, EBI-2371423;
CC Q8NCR3; Q96HY3: CALM2; NbExp=3; IntAct=EBI-744790, EBI-4324545;
CC Q8NCR3; P62158: CALM3; NbExp=3; IntAct=EBI-744790, EBI-397435;
CC Q8NCR3; P27482: CALML3; NbExp=3; IntAct=EBI-744790, EBI-747537;
CC Q8NCR3; P27797: CALR; NbExp=3; IntAct=EBI-744790, EBI-1049597;
CC Q8NCR3; P12830: CDH1; NbExp=3; IntAct=EBI-744790, EBI-727477;
CC Q8NCR3; Q15078: CDK5R1; NbExp=3; IntAct=EBI-744790, EBI-746189;
CC Q8NCR3; P36957: DLST; NbExp=3; IntAct=EBI-744790, EBI-351007;
CC Q8NCR3; Q7L5A3: FAM214B; NbExp=3; IntAct=EBI-744790, EBI-745689;
CC Q8NCR3; B4DJ51: HEL-S-72; NbExp=5; IntAct=EBI-744790, EBI-10171450;
CC Q8NCR3; Q8TDX7: NEK7; NbExp=3; IntAct=EBI-744790, EBI-1055945;
CC Q8NCR3; Q9BRL5; NbExp=3; IntAct=EBI-744790, EBI-10296986;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:Q9D4W2}. Mitochondrion outer membrane
CC {ECO:0000250|UniProtKB:Q9D4W2}. Note=Predominantly localizes to the
CC cytosol, with a minor fraction at the outer mitochondrial membrane.
CC {ECO:0000250|UniProtKB:Q9D4W2}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NCR3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NCR3-2; Sequence=VSP_056888, VSP_056889;
CC -!- TISSUE SPECIFICITY: Enriched in the pancreatic beta cell and the testis
CC and is expressed at low levels in other tissues tested.
CC {ECO:0000269|PubMed:30059978}.
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DR EMBL; AK303096; BAG64206.1; -; mRNA.
DR EMBL; AP001925; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP005718; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029536; AAH29536.1; -; mRNA.
DR CCDS; CCDS81622.1; -. [Q8NCR3-2]
DR CCDS; CCDS8340.1; -. [Q8NCR3-1]
DR RefSeq; NP_001317297.1; NM_001330368.1. [Q8NCR3-2]
DR RefSeq; NP_689800.3; NM_152587.3. [Q8NCR3-1]
DR RefSeq; XP_011540941.1; XM_011542639.2. [Q8NCR3-1]
DR RefSeq; XP_016872735.1; XM_017017246.1. [Q8NCR3-1]
DR AlphaFoldDB; Q8NCR3; -.
DR SMR; Q8NCR3; -.
DR BioGRID; 127748; 13.
DR IntAct; Q8NCR3; 17.
DR STRING; 9606.ENSP00000483537; -.
DR iPTMnet; Q8NCR3; -.
DR PhosphoSitePlus; Q8NCR3; -.
DR BioMuta; C11orf65; -.
DR DMDM; 74730167; -.
DR MassIVE; Q8NCR3; -.
DR PaxDb; Q8NCR3; -.
DR PeptideAtlas; Q8NCR3; -.
DR PRIDE; Q8NCR3; -.
DR ProteomicsDB; 5625; -.
DR ProteomicsDB; 72927; -. [Q8NCR3-1]
DR Antibodypedia; 50806; 71 antibodies from 13 providers.
DR DNASU; 160140; -.
DR Ensembl; ENST00000393084.6; ENSP00000376799.1; ENSG00000166323.13. [Q8NCR3-1]
DR Ensembl; ENST00000525729.5; ENSP00000433395.1; ENSG00000166323.13. [Q8NCR3-2]
DR Ensembl; ENST00000527531.5; ENSP00000431706.1; ENSG00000166323.13. [Q8NCR3-1]
DR Ensembl; ENST00000529391.5; ENSP00000436400.1; ENSG00000166323.13. [Q8NCR3-1]
DR Ensembl; ENST00000615746.4; ENSP00000483537.1; ENSG00000166323.13. [Q8NCR3-1]
DR GeneID; 160140; -.
DR KEGG; hsa:160140; -.
DR MANE-Select; ENST00000393084.6; ENSP00000376799.1; NM_152587.5; NP_689800.3.
DR UCSC; uc001pkh.3; human. [Q8NCR3-1]
DR CTD; 160140; -.
DR DisGeNET; 160140; -.
DR GeneCards; C11orf65; -.
DR HGNC; HGNC:28519; C11orf65.
DR HPA; ENSG00000166323; Tissue enriched (testis).
DR MalaCards; C11orf65; -.
DR neXtProt; NX_Q8NCR3; -.
DR OpenTargets; ENSG00000166323; -.
DR PharmGKB; PA144596484; -.
DR VEuPathDB; HostDB:ENSG00000166323; -.
DR eggNOG; ENOG502QSTG; Eukaryota.
DR GeneTree; ENSGT00510000048394; -.
DR HOGENOM; CLU_068479_1_0_1; -.
DR InParanoid; Q8NCR3; -.
DR OMA; EEYMEEW; -.
DR PhylomeDB; Q8NCR3; -.
DR TreeFam; TF328500; -.
DR PathwayCommons; Q8NCR3; -.
DR SignaLink; Q8NCR3; -.
DR BioGRID-ORCS; 160140; 17 hits in 1014 CRISPR screens.
DR ChiTaRS; C11orf65; human.
DR GenomeRNAi; 160140; -.
DR Pharos; Q8NCR3; Tdark.
DR PRO; PR:Q8NCR3; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8NCR3; protein.
DR Bgee; ENSG00000166323; Expressed in sperm and 96 other tissues.
DR ExpressionAtlas; Q8NCR3; baseline and differential.
DR Genevisible; Q8NCR3; HS.
DR GO; GO:0005829; C:cytosol; ISS:UniProtKB.
DR GO; GO:0005741; C:mitochondrial outer membrane; ISS:UniProtKB.
DR GO; GO:0090258; P:negative regulation of mitochondrial fission; ISS:UniProtKB.
DR GO; GO:1903215; P:negative regulation of protein targeting to mitochondrion; ISS:UniProtKB.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Membrane; Mitochondrion;
KW Mitochondrion outer membrane; Reference proteome.
FT CHAIN 1..313
FT /note="Protein MFI"
FT /id="PRO_0000263665"
FT VAR_SEQ 28..76
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056888"
FT VAR_SEQ 264..313
FT /note="FRFNQAQKNIYNYGGDISKMQMGIPDDTYYENVYQEPNVTRLTPDSTYGL
FT -> IFFRILFSIKMEYEEFLSSPTPANVNTILPQW (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056889"
SQ SEQUENCE 313 AA; 36720 MW; F0A4D2DB06B651CB CRC64;
MPWKEESEFT KQDKAARVIQ QAWKSFLNVA IFQHFKSLID LRRQGEPRQI VKYINPKEAE
LLDAAAGIHV RFRLGGVKFP PDIYYKIFTH RPIEDLCANS PRNYAKLPAK HTSHNKNDHL
QEEDHSGWYH RIENNGWRPV SDTFWLSTDG MVVEDKKESE FHFSKLKRRQ DLEKKRKLRK
IEWMRQMYYS GSLEAKSTHH ETLGLIHTAT KGLIRAFEDG GIDSVMEWEV DEVLNWTNTL
NFDEYIASWK EIATSNSSAN FKGFRFNQAQ KNIYNYGGDI SKMQMGIPDD TYYENVYQEP
NVTRLTPDST YGL
