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

    Gene ID: 10989, updated on 7-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:6047
    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
    Summary
    Enables RNA binding activity. Involved in cristae formation. Located in mitochondrial inner membrane. Part of MICOS complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart (RPKM 51.0), adrenal (RPKM 34.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p11.2; 2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (86143936..86195462, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (86146002..86197566, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (86371059..86422585, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA polymerase I subunit A Neighboring gene uncharacterized LOC124907852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16154 Neighboring gene pentatricopeptide repeat domain 3 Neighboring gene Sharpr-MPRA regulatory region 1812 Neighboring gene MPRA-validated peak3777 silencer Neighboring gene small nucleolar RNA, C/D box 94 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16158 Neighboring gene microRNA 4779 Neighboring gene Sharpr-MPRA regulatory region 10968 Neighboring gene mitochondrial ribosomal protein L35 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:86457835-86458493 Neighboring gene Sharpr-MPRA regulatory region 10790 Neighboring gene receptor accessory protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11711 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:86487052-86487642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:86551277-86551778

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene. Marco-Hernández AV, et al. Clin Genet, 2022 Feb. PMID 34842280
    2. Prognostic significance of IMMT expression in surgically-resected lung adenocarcinoma. Hiyoshi Y, et al. Thorac Cancer, 2019 Nov. PMID 31583841, Free PMC Article
    3. Suppression of Mic60 compromises mitochondrial transcription and oxidative phosphorylation. Yang RF, et al. Sci Rep, 2015 Jan 23. PMID 25612828, Free PMC Article
    4. Transgenic overexpression of mitofilin attenuates diabetes mellitus-associated cardiac and mitochondria dysfunction. Thapa D, et al. J Mol Cell Cardiol, 2015 Feb. PMID 25463274, Free PMC Article
    5. Mitofilin regulates cytochrome c release during apoptosis by controlling mitochondrial cristae remodeling. Yang RF, et al. Biochem Biophys Res Commun, 2012 Nov 9. PMID 23058921

    See all (203) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
      Title: Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
    2. Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes.
      Title: Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes.
    3. CHCHD10-regulated OPA1-mitofilin complex mediates TDP-43-induced mitochondrial phenotypes associated with frontotemporal dementia.
      Title: CHCHD10-regulated OPA1-mitofilin complex mediates TDP-43-induced mitochondrial phenotypes associated with frontotemporal dementia.
    4. Pediatric ependymoma: GNAO1, ASAH1, IMMT and IPO7 protein expression and 5-year prognosis correlation.
      Title: Pediatric ependymoma: GNAO1, ASAH1, IMMT and IPO7 protein expression and 5-year prognosis correlation.
    5. Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins.
      Title: Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins.
    6. Study demonstrated that high-IMMT expression is related to some clinicopathological parameters of patients with lung adenocarcinoma, and that its expression is an independent prognostic predictor of poorer survival.
      Title: Prognostic significance of IMMT expression in surgically-resected lung adenocarcinoma.
    7. Mitofilin, apoptosis-inducing factor (AIF) and poly(ADP-ribose) polymerase (PARP) expression were measured by Western blot analysis.
      Title: Mitochondrial inner membrane protein (mitofilin) knockdown induces cell death by apoptosis via an AIF-PARP-dependent mechanism and cell cycle arrest.
    8. It analyses revealed that Trak1 interacts and colocalizes with mitofusins on the outer mitochondrial membrane and functions with mitofusins to promote mitochondrial tethering and fusion.
      Title: Hypertonia-linked protein Trak1 functions with mitofusins to promote mitochondrial tethering and fusion.
    9. Sub-mitochondrial localization of the genetic-tagged mitochondrial intermembrane space-bridging components Mic19, Mic60 and Sam50.
      Title: Sub-mitochondrial localization of the genetic-tagged mitochondrial intermembrane space-bridging components Mic19, Mic60 and Sam50.
    10. PKA-mediated phosphorylation of MIC60 negatively regulates mitochondrial clearance that is initiated by PINK1 and Parkin.
      Title: PKA Regulates PINK1 Stability and Parkin Recruitment to Damaged Mitochondria through Phosphorylation of MIC60.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111146, DKFZp779P1653

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cristae formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cristae formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cristae formation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in inner mitochondrial membrane organization IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mitochondrial calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of MIB complex HDA PubMed 
    part_of MICOS complex HDA PubMed 
    part_of MICOS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MICOS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MICOS complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of SAM complex HDA PubMed 
    located_in membrane HDA PubMed 
    located_in mitochondrial crista junction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial intermembrane space IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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    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_001100169.2 → NP_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, DC403234
      Consensus CDS
      CCDS46356.1
      UniProtKB/TrEMBL
      B4DKR1
      Related
      ENSP00000407788.2, ENST00000442664.6
      Conserved Domains (1) summary
      pfam09731
      Location:44 → 745
      Mitofilin; Mitochondrial inner membrane protein

    2. NM_001100170.2 → NP_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, DC403234
      Consensus CDS
      CCDS46357.1
      UniProtKB/TrEMBL
      B4DKR1
      Related
      ENSP00000396899.2, ENST00000449247.6
      Conserved Domains (1) summary
      pfam09731
      Location:44 → 735
      Mitofilin; Mitochondrial inner membrane protein

    3. NM_001400086.1 → NP_001387015.1  MICOS complex subunit MIC60 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC009309

    4. NM_001400087.1 → NP_001387016.1  MICOS complex subunit MIC60 isoform 42

      Status: VALIDATED

      Source sequence(s)
      AC009309

    5. NM_001400088.1 → NP_001387017.1  MICOS complex subunit MIC60 isoform 43

      Status: VALIDATED

      Source sequence(s)
      AC009309

    6. NM_001400089.1 → NP_001387018.1  MICOS complex subunit MIC60 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC009309

    7. NM_001400090.1 → NP_001387019.1  MICOS complex subunit MIC60 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC009309

    8. NM_001400091.1 → NP_001387020.1  MICOS complex subunit MIC60 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC009309

    9. NM_001400100.1 → NP_001387029.1  MICOS complex subunit MIC60 isoform 44

      Status: VALIDATED

      Source sequence(s)
      AC009309

    10. NM_001400101.1 → NP_001387030.1  MICOS complex subunit MIC60 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC009309

    11. NM_001400102.1 → NP_001387031.1  MICOS complex subunit MIC60 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC009309

    12. NM_001400103.1 → NP_001387032.1  MICOS complex subunit MIC60 isoform 45

      Status: VALIDATED

      Source sequence(s)
      AC009309

    13. NM_001400104.1 → NP_001387033.1  MICOS complex subunit MIC60 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC009309
      Related
      ENSP00000387227.2, ENST00000409051.6

    14. NM_001400105.1 → NP_001387034.1  MICOS complex subunit MIC60 isoform 38

      Status: VALIDATED

      Source sequence(s)
      AC009309

    15. NM_001400106.1 → NP_001387035.1  MICOS complex subunit MIC60 isoform 39

      Status: VALIDATED

      Source sequence(s)
      AC009309

    16. NM_001400107.1 → NP_001387036.1  MICOS complex subunit MIC60 isoform 40

      Status: VALIDATED

      Source sequence(s)
      AC009309

    17. NM_001400108.1 → NP_001387037.1  MICOS complex subunit MIC60 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC009309

    18. NM_001400109.1 → NP_001387038.1  MICOS complex subunit MIC60 isoform 41

      Status: VALIDATED

      Source sequence(s)
      AC009309

    19. NM_001400110.1 → NP_001387039.1  MICOS complex subunit MIC60 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC009309

    20. NM_001400111.1 → NP_001387040.1  MICOS complex subunit MIC60 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC009309

    21. NM_001400112.1 → NP_001387041.1  MICOS complex subunit MIC60 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC009309

    22. NM_001400113.1 → NP_001387042.1  MICOS complex subunit MIC60 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC009309

    23. NM_001400114.1 → NP_001387043.1  MICOS complex subunit MIC60 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC009309

    24. NM_001400115.1 → NP_001387044.1  MICOS complex subunit MIC60 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC009309

    25. NM_001400116.1 → NP_001387045.1  MICOS complex subunit MIC60 isoform 18

      Status: VALIDATED

      Source sequence(s)
      AC009309

    26. NM_001400117.1 → NP_001387046.1  MICOS complex subunit MIC60 isoform 19

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DS66
      Related
      ENSP00000415762.2, ENST00000419070.6

    27. NM_001400118.1 → NP_001387047.1  MICOS complex subunit MIC60 isoform 19

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DS66

    28. NM_001400119.1 → NP_001387048.1  MICOS complex subunit MIC60 isoform 20

      Status: VALIDATED

      Source sequence(s)
      AC009309

    29. NM_001400120.1 → NP_001387049.1  MICOS complex subunit MIC60 isoform 21

      Status: VALIDATED

      Source sequence(s)
      AC009309

    30. NM_001400121.1 → NP_001387050.1  MICOS complex subunit MIC60 isoform 22

      Status: VALIDATED

      Source sequence(s)
      AC009309

    31. NM_001400122.1 → NP_001387051.1  MICOS complex subunit MIC60 isoform 23

      Status: VALIDATED

      Source sequence(s)
      AC009309

    32. NM_001400123.1 → NP_001387052.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309

    33. NM_001400124.1 → NP_001387053.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309

    34. NM_001400125.1 → NP_001387054.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309

    35. NM_001400126.1 → NP_001387055.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309

    36. NM_001400127.1 → NP_001387056.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309

    37. NM_001400128.1 → NP_001387057.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309

    38. NM_001400129.1 → NP_001387058.1  MICOS complex subunit MIC60 isoform 25

      Status: VALIDATED

      Source sequence(s)
      AC009309

    39. NM_001400130.1 → NP_001387059.1  MICOS complex subunit MIC60 isoform 26

      Status: VALIDATED

      Source sequence(s)
      AC009309

    40. NM_001400131.1 → NP_001387060.1  MICOS complex subunit MIC60 isoform 26

      Status: VALIDATED

      Source sequence(s)
      AC009309

    41. NM_001400132.1 → NP_001387061.1  MICOS complex subunit MIC60 isoform 27

      Status: VALIDATED

      Source sequence(s)
      AC009309
      Related
      ENST00000474969.5

    42. NM_001400133.1 → NP_001387062.1  MICOS complex subunit MIC60 isoform 28

      Status: VALIDATED

      Source sequence(s)
      AC009309

    43. NM_001400134.1 → NP_001387063.1  MICOS complex subunit MIC60 isoform 29

      Status: VALIDATED

      Source sequence(s)
      AC009309

    44. NM_001400135.1 → NP_001387064.1  MICOS complex subunit MIC60 isoform 30

      Status: VALIDATED

      Source sequence(s)
      AC009309

    45. NM_001400137.1 → NP_001387066.1  MICOS complex subunit MIC60 isoform 31

      Status: VALIDATED

      Source sequence(s)
      AC009309
      Consensus CDS
      CCDS92794.1
      UniProtKB/TrEMBL
      C9J406
      Related
      ENSP00000254636.5, ENST00000254636.9

    46. NM_001400138.1 → NP_001387067.1  MICOS complex subunit MIC60 isoform 32

      Status: VALIDATED

      Source sequence(s)
      AC009309

    47. NM_001400140.1 → NP_001387069.1  MICOS complex subunit MIC60 isoform 33

      Status: VALIDATED

      Source sequence(s)
      AC009309

    48. NM_001400142.1 → NP_001387071.1  MICOS complex subunit MIC60 isoform 34

      Status: VALIDATED

      Source sequence(s)
      AC009309

    49. NM_001400143.1 → NP_001387072.1  MICOS complex subunit MIC60 isoform 35

      Status: VALIDATED

      Source sequence(s)
      AC009309

    50. NM_001400144.1 → NP_001387073.1  MICOS complex subunit MIC60 isoform 36

      Status: VALIDATED

      Source sequence(s)
      AC009309

    51. NM_001400145.1 → NP_001387074.1  MICOS complex subunit MIC60 isoform 37

      Status: VALIDATED

      Source sequence(s)
      AC009309

    52. NM_006839.3 → NP_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) encodes the longest isoform (1).
      Source sequence(s)
      BC002412, BC027458, DC403234
      Consensus CDS
      CCDS46355.1
      UniProtKB/Swiss-Prot
      B1H0U5, B2R5N6, Q14539, Q15092, Q16891, Q68D41, Q69HW5, Q6IBL0, Q7Z3X1, Q8TAJ5, Q9P0V2
      UniProtKB/TrEMBL
      B4DKR1
      Related
      ENSP00000387262.3, ENST00000410111.8
      Conserved Domains (1) summary
      pfam09731
      Location:44 → 746
      Mitofilin; Mitochondrial inner membrane protein

    RNA

    1. NR_174393.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009309

    2. NR_174394.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009309

    3. NR_174395.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009309

    4. NR_174396.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009309

    5. NR_174397.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009309

    6. NR_174398.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009309

    7. NR_174399.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009309

    8. NR_174400.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009309

    9. NR_174401.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009309

    10. NR_174402.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC009309

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      86143936..86195462 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      86146002..86197566 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16891.1 GenPept UniProtKB/Swiss-Prot:Q16891

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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