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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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See IMMT in Genome Data Viewer
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

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