LOCUS       NP_083949                757 aa            linear   ROD 10-FEB-2025
DEFINITION  MICOS complex subunit Mic60 isoform 1 [Mus musculus].
ACCESSION   NP_083949
VERSION     NP_083949.2
DBSOURCE    REFSEQ: accession NM_029673.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 757)
  AUTHORS   Rockfield,S.M., Turnis,M.E., Rodriguez-Enriquez,R., Bathina,M.,
            Ng,S.K., Kurtz,N., Becerra Mora,N., Pelletier,S., Robinson,C.G.,
            Vogel,P. and Opferman,J.T.
  TITLE     Genetic ablation of Immt induces a lethal disruption of the MICOS
            complex
  JOURNAL   Life Sci Alliance 7 (6), e202302329 (2024)
   PUBMED   38467404
  REMARK    GeneRIF: Genetic ablation of Immt induces a lethal disruption of
            the MICOS complex.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 757)
  AUTHORS   Dong,T., Zhang,Z.Q., Sun,L.H., Zhang,W., Zhu,Z., Lin,L., Yang,L.,
            Lv,A., Liu,C., Li,Q., Yang,R.F., Zhang,X., Niu,Y., Chen,H.Z.,
            Liu,D.P. and Tong,W.M.
  TITLE     Mic60 is essential to maintain mitochondrial integrity and to
            prevent encephalomyopathy
  JOURNAL   Brain Pathol 33 (4), e13157 (2023)
   PUBMED   36974636
  REMARK    GeneRIF: Mic60 is essential to maintain mitochondrial integrity and
            to prevent encephalomyopathy.
REFERENCE   3  (residues 1 to 757)
  AUTHORS   Shimada,K., Park,S., Miyata,H., Yu,Z., Morohoshi,A., Oura,S.,
            Matzuk,M.M. and Ikawa,M.
  TITLE     ARMC12 regulates spatiotemporal mitochondrial dynamics during
            spermiogenesis and is required for male fertility
  JOURNAL   Proc Natl Acad Sci U S A 118 (6) (2021)
   PUBMED   33536340
REFERENCE   4  (residues 1 to 757)
  AUTHORS   Lv,Y.J., Yang,Y., Sui,B.D., Hu,C.H., Zhao,P., Liao,L., Chen,J.,
            Zhang,L.Q., Yang,T.T., Zhang,S.F. and Jin,Y.
  TITLE     Resveratrol counteracts bone loss via mitofilin-mediated osteogenic
            improvement of mesenchymal stem cells in senescence-accelerated
            mice
  JOURNAL   Theranostics 8 (9), 2387-2406 (2018)
   PUBMED   29721087
  REMARK    GeneRIF: Unravel Mitofilin as a novel mechanism mediating RESV
            promotion on mitochondrial function in stem cell senescence.
            Erratum:[Theranostics. 2022 Jul 8;12(12):5334. doi:
            10.7150/thno.74941.. PMID: 35910790]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 757)
  AUTHORS   Terzenidou,M.E., Segklia,A., Kano,T., Papastefanaki,F.,
            Karakostas,A., Charalambous,M., Ioakeimidis,F., Papadaki,M.,
            Kloukina,I., Chrysanthou-Piterou,M., Samiotaki,M., Panayotou,G.,
            Matsas,R. and Douni,E.
  TITLE     Novel insights into SLC25A46-related pathologies in a genetic mouse
            model
  JOURNAL   PLoS Genet 13 (4), e1006656 (2017)
   PUBMED   28376086
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 757)
  AUTHORS   Park,Y.U., Jeong,J., Lee,H., Mun,J.Y., Kim,J.H., Lee,J.S.,
            Nguyen,M.D., Han,S.S., Suh,P.G. and Park,S.K.
  TITLE     Disrupted-in-schizophrenia 1 (DISC1) plays essential roles in
            mitochondria in collaboration with Mitofilin
  JOURNAL   Proc Natl Acad Sci U S A 107 (41), 17785-17790 (2010)
   PUBMED   20880836
REFERENCE   7  (residues 1 to 757)
  AUTHORS   Wang,Q., Liu,Y., Zou,X., Wang,Q., An,M., Guan,X., He,J., Tong,Y.
            and Ji,J.
  TITLE     The hippocampal proteomic analysis of senescence-accelerated mouse:
            implications of Uchl3 and mitofilin in cognitive disorder and
            mitochondria dysfunction in SAMP8
  JOURNAL   Neurochem Res 33 (9), 1776-1782 (2008)
   PUBMED   18307031
  REMARK    GeneRIF: Data show that Uchl3 and mitofilin are differentially
            expressed in the hippocampi of inbred senescence-acclerated mice
            compared to normally-aging mice.
REFERENCE   8  (residues 1 to 757)
  AUTHORS   Werner,H.B., Kuhlmann,K., Shen,S., Uecker,M., Schardt,A.,
            Dimova,K., Orfaniotou,F., Dhaunchak,A., Brinkmann,B.G., Mobius,W.,
            Guarente,L., Casaccia-Bonnefil,P., Jahn,O. and Nave,K.A.
  TITLE     Proteolipid protein is required for transport of sirtuin 2 into CNS
            myelin
  JOURNAL   J Neurosci 27 (29), 7717-7730 (2007)
   PUBMED   17634366
REFERENCE   9  (residues 1 to 757)
  AUTHORS   John,G.B., Shang,Y., Li,L., Renken,C., Mannella,C.A., Selker,J.M.,
            Rangell,L., Bennett,M.J. and Zha,J.
  TITLE     The mitochondrial inner membrane protein mitofilin controls cristae
            morphology
  JOURNAL   Mol Biol Cell 16 (3), 1543-1554 (2005)
   PUBMED   15647377
  REMARK    GeneRIF: mitofilin is a critical organizer of the mitochondrial
            cristae morphology and thus indispensable for normal mitochondrial
            function
REFERENCE   10 (residues 1 to 757)
  AUTHORS   Mootha,V.K., Bunkenborg,J., Olsen,J.V., Hjerrild,M.,
            Wisniewski,J.R., Stahl,E., Bolouri,M.S., Ray,H.N., Sihag,S.,
            Kamal,M., Patterson,N., Lander,E.S. and Mann,M.
  TITLE     Integrated analysis of protein composition, tissue diversity, and
            gene regulation in mouse mitochondria
  JOURNAL   Cell 115 (5), 629-640 (2003)
   PUBMED   14651853
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CJ058627.1, AK038129.1 and BU754623.1.
            
            On Jul 8, 2005 this sequence version replaced NP_083949.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK038129.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..757
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 32.21 cM"
     Protein         1..757
                     /product="MICOS complex subunit Mic60 isoform 1"
                     /note="mitochondrial inner membrane protein; mitofilin;
                     MICOS complex subunit Mic60"
                     /calculated_mol_wt=80221
     transit_peptide 1..33
                     /note="Mitochondrion. /evidence=ECO:0000255; propagated
                     from UniProtKB/Swiss-Prot (Q8CAQ8.1)"
                     /calculated_mol_wt=3698
     mat_peptide     34..757
                     /product="MICOS complex subunit Mic60. /id=PRO_0000084185"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8CAQ8.1)"
                     /calculated_mol_wt=80221
     Region          43..745
                     /region_name="Mitofilin"
                     /note="Mitochondrial inner membrane protein; pfam09731"
                     /db_xref="CDD:430783"
     Site            46..65
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8CAQ8.1)"
     Site            112
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q16891; propagated from
                     UniProtKB/Swiss-Prot (Q8CAQ8.1)"
     Site            113
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q16891; propagated from
                     UniProtKB/Swiss-Prot (Q8CAQ8.1)"
     Region          164..199
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8CAQ8.1)"
     Site            210
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q16891; propagated from
                     UniProtKB/Swiss-Prot (Q8CAQ8.1)"
     Site            221
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q16891; propagated from
                     UniProtKB/Swiss-Prot (Q8CAQ8.1)"
     Site            222
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q3KR86; propagated from
                     UniProtKB/Swiss-Prot (Q8CAQ8.1)"
     Site            387
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q16891; propagated from
                     UniProtKB/Swiss-Prot (Q8CAQ8.1)"
     Site            389
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q16891; propagated from
                     UniProtKB/Swiss-Prot (Q8CAQ8.1)"
     Site            450
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q16891; propagated from
                     UniProtKB/Swiss-Prot (Q8CAQ8.1)"
     Site            506
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:18034455; propagated from
                     UniProtKB/Swiss-Prot (Q8CAQ8.1)"
     CDS             1..757
                     /gene="Immt"
                     /gene_synonym="1700082C19Rik; D830041H16Rik; HMP; Micos60;
                     P87; P87/89; P89"
                     /coded_by="NM_029673.3:152..2425"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS39509.1"
                     /db_xref="GeneID:76614"
                     /db_xref="MGI:MGI:1923864"
ORIGIN      
        1 mlracqlsgv tvaaqsclcg kfvlrplrpc rrystssssg ltagkiagag llfvgggigg
       61 tilyakwdsh fresvektip ysdklfgmvl gsapytvplp kkpvqsgplk issvsevmkd
      121 sklpvaqsqk tkgdtpasaa stgaaqiisa agdtlsvpap avqhedtikt ecpntnegks
      181 tsetteeafs ssvrerppee vaarlaqqek qeqvemesla ksledalnrt ssvtlqtita
      241 qnaavqavka hsnilktamd nseiagekks aqwrtvegal kerrkavdea adallkakee
      301 lekmktiied akkreiagat phitaaegrl hnmivdldnv vkkvqaaqse akvvsqyhel
      361 vvqarddfrk eldsitpdit pgwkgmsisd lagklstddl nsliahahrr idqlnrelaq
      421 qkatekqhie lalekhklee krtfdsavak alehhrseiq aeqdrkveev rdamenemrt
      481 qlrrqaaaht dhlrdvlkvq eqelkyefeq glseklseqe lefrrrsqeq mdsftldint
      541 ayarlrgieq avqshavaee earkahqlwl svealkysmk tssaemptip lgsaveairv
      601 ncsdneftqa ltaaippesl trgvyseetl rarfyavqkl arrvamidet rnslyqyfls
      661 ylqslllfpp kqlkppaely pedintfkll syasyciehg dlelaakfvn qlkgesrrva
      721 qdwlkearmt letkqiveil tayasavgig ttqvqqe
//
