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    IMMT inner membrane mitochondrial protein [ Homo sapiens (human) ]

    Gene ID: 10989, updated on 15-Jun-2019

    Summary

    Official Symbol
    IMMTprovided by HGNC
    Official Full Name
    inner membrane mitochondrial proteinprovided by HGNC
    Primary source
    HGNC:HGNC:6047
    See related
    Ensembl:ENSG00000132305 MIM:600378
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HMP; P87; P89; PIG4; Mic60; PIG52; MINOS2; P87/89; MICOS60
    Expression
    Ubiquitous expression in heart (RPKM 51.0), adrenal (RPKM 34.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See IMMT in Genome Data Viewer
    Location:
    2p11.2; 2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (86143932..86195770, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (86371055..86423264, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene conserved acetylation island sequence 34 enhancer Neighboring gene RNA polymerase I subunit A Neighboring gene pentatricopeptide repeat domain 3 Neighboring gene small nucleolar RNA, C/D box 94 Neighboring gene microRNA 4779 Neighboring gene mitochondrial ribosomal protein L35 Neighboring gene receptor accessory protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC111146, DKFZp779P1653

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cristae formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    MICOS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane HDA PubMed 
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion HDA PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    MICOS complex subunit MIC60
    Names
    cell proliferation-inducing gene 4/52 protein
    cell proliferation-inducing protein 52
    heart muscle protein
    mitochondrial contact site and cristae organizing system subunit 60
    mitochondrial inner membrane organizing system 2
    mitochondrial inner membrane protein
    mitofilin
    motor protein
    proliferation-inducing gene 4

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001100169.1NP_001093639.1  MICOS complex subunit MIC60 isoform 2

      See identical proteins and their annotated locations for NP_001093639.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the mid-coding region, compared to variant 1, resulting in a protein (isoform 2) that is shorter than isoform 1.
      Source sequence(s)
      AY232292, BC027458, BU729109, DC403234
      Consensus CDS
      CCDS46356.1
      UniProtKB/Swiss-Prot
      Q16891
      Related
      ENSP00000407788.2, ENST00000442664.6
      Conserved Domains (1) summary
      pfam09731
      Location:44745
      Mitofilin; Mitochondrial inner membrane protein
    2. NM_001100170.1NP_001093640.1  MICOS complex subunit MIC60 isoform 3

      See identical proteins and their annotated locations for NP_001093640.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the mid-coding region, compared to variant 1, resulting in a protein (isoform 3) that is shorter than isoform 1.
      Source sequence(s)
      AK225780, BC002412, BC027458, BU729109, DC403234
      Consensus CDS
      CCDS46357.1
      UniProtKB/Swiss-Prot
      Q16891
      Related
      ENSP00000396899.2, ENST00000449247.6
      Conserved Domains (1) summary
      pfam09731
      Location:44735
      Mitofilin; Mitochondrial inner membrane protein
    3. NM_006839.2NP_006830.2  MICOS complex subunit MIC60 isoform 1

      See identical proteins and their annotated locations for NP_006830.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC002412, BC027458, BU729109, DC403234
      Consensus CDS
      CCDS46355.1
      UniProtKB/Swiss-Prot
      Q16891
      Related
      ENSP00000387262.3, ENST00000410111.7
      Conserved Domains (1) summary
      pfam09731
      Location:44746
      Mitofilin; Mitochondrial inner membrane protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      86143932..86195770 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264113.2XP_005264170.1  MICOS complex subunit MIC60 isoform X3

      See identical proteins and their annotated locations for XP_005264170.1

      UniProtKB/Swiss-Prot
      Q16891
      Conserved Domains (1) summary
      pfam09731
      Location:44714
      Mitofilin; Mitochondrial inner membrane protein
    2. XM_017003194.2XP_016858683.1  MICOS complex subunit MIC60 isoform X1

      UniProtKB/Swiss-Prot
      Q16891
      Conserved Domains (1) summary
      pfam09731
      Location:44746
      Mitofilin; Mitochondrial inner membrane protein
    3. XM_005264114.2XP_005264171.1  MICOS complex subunit MIC60 isoform X4

      See identical proteins and their annotated locations for XP_005264171.1

      Related
      ENSP00000415762.2, ENST00000419070.6
      Conserved Domains (1) summary
      pfam09731
      Location:44703
      Mitofilin; Mitochondrial inner membrane protein
    4. XM_005264110.4XP_005264167.1  MICOS complex subunit MIC60 isoform X2

      See identical proteins and their annotated locations for XP_005264167.1

      Related
      ENSP00000387227.2, ENST00000409051.6
      Conserved Domains (1) summary
      pfam09731
      Location:44734
      Mitofilin; Mitochondrial inner membrane protein
    5. XM_011532497.3XP_011530799.1  MICOS complex subunit MIC60 isoform X5

      Conserved Domains (1) summary
      pfam09731
      Location:5452
      Mitofilin; Mitochondrial inner membrane protein
    6. XM_017003195.2XP_016858684.1  MICOS complex subunit MIC60 isoform X5

      Conserved Domains (1) summary
      pfam09731
      Location:5452
      Mitofilin; Mitochondrial inner membrane protein
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