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

    Gene ID: 10989, updated on 10-Dec-2024

    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; 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, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 51.0), adrenal (RPKM 34.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IMMT in Genome Data Viewer
    Location:
    2p11.2; 2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (86143936..86195462, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (86146002..86197566, complement)
    RS_2024_09 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

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    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)

    NEW Try the new Transcript table

    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_001100169.2NP_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:44745
      Mitofilin; Mitochondrial inner membrane protein
    2. NM_001100170.2NP_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:44735
      Mitofilin; Mitochondrial inner membrane protein
    3. NM_001400086.1NP_001387015.1  MICOS complex subunit MIC60 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    4. NM_001400087.1NP_001387016.1  MICOS complex subunit MIC60 isoform 42

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    5. NM_001400088.1NP_001387017.1  MICOS complex subunit MIC60 isoform 43

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    6. NM_001400089.1NP_001387018.1  MICOS complex subunit MIC60 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    7. NM_001400090.1NP_001387019.1  MICOS complex subunit MIC60 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    8. NM_001400091.1NP_001387020.1  MICOS complex subunit MIC60 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    9. NM_001400100.1NP_001387029.1  MICOS complex subunit MIC60 isoform 44

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    10. NM_001400101.1NP_001387030.1  MICOS complex subunit MIC60 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    11. NM_001400102.1NP_001387031.1  MICOS complex subunit MIC60 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    12. NM_001400103.1NP_001387032.1  MICOS complex subunit MIC60 isoform 45

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    13. NM_001400104.1NP_001387033.1  MICOS complex subunit MIC60 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
      Related
      ENSP00000387227.2, ENST00000409051.6
    14. NM_001400105.1NP_001387034.1  MICOS complex subunit MIC60 isoform 38

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    15. NM_001400106.1NP_001387035.1  MICOS complex subunit MIC60 isoform 39

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    16. NM_001400107.1NP_001387036.1  MICOS complex subunit MIC60 isoform 40

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    17. NM_001400108.1NP_001387037.1  MICOS complex subunit MIC60 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    18. NM_001400109.1NP_001387038.1  MICOS complex subunit MIC60 isoform 41

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    19. NM_001400110.1NP_001387039.1  MICOS complex subunit MIC60 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    20. NM_001400111.1NP_001387040.1  MICOS complex subunit MIC60 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    21. NM_001400112.1NP_001387041.1  MICOS complex subunit MIC60 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    22. NM_001400113.1NP_001387042.1  MICOS complex subunit MIC60 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B9A067
    23. NM_001400114.1NP_001387043.1  MICOS complex subunit MIC60 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      H7C463
    24. NM_001400115.1NP_001387044.1  MICOS complex subunit MIC60 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      H7C463
    25. NM_001400116.1NP_001387045.1  MICOS complex subunit MIC60 isoform 18

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DKR1
    26. NM_001400117.1NP_001387046.1  MICOS complex subunit MIC60 isoform 19

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DS66, H7C463
      Related
      ENSP00000415762.2, ENST00000419070.6
    27. NM_001400118.1NP_001387047.1  MICOS complex subunit MIC60 isoform 19

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4DS66, H7C463
    28. NM_001400119.1NP_001387048.1  MICOS complex subunit MIC60 isoform 20

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      H7C463
    29. NM_001400120.1NP_001387049.1  MICOS complex subunit MIC60 isoform 21

      Status: VALIDATED

      Source sequence(s)
      AC009309
    30. NM_001400121.1NP_001387050.1  MICOS complex subunit MIC60 isoform 22

      Status: VALIDATED

      Source sequence(s)
      AC009309
    31. NM_001400122.1NP_001387051.1  MICOS complex subunit MIC60 isoform 23

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B9A067
    32. NM_001400123.1NP_001387052.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309
    33. NM_001400124.1NP_001387053.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309
    34. NM_001400125.1NP_001387054.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309
    35. NM_001400126.1NP_001387055.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309
    36. NM_001400127.1NP_001387056.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309
    37. NM_001400128.1NP_001387057.1  MICOS complex subunit MIC60 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AC009309
    38. NM_001400129.1NP_001387058.1  MICOS complex subunit MIC60 isoform 25

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      H7C463
    39. NM_001400130.1NP_001387059.1  MICOS complex subunit MIC60 isoform 26

      Status: VALIDATED

      Source sequence(s)
      AC009309
    40. NM_001400131.1NP_001387060.1  MICOS complex subunit MIC60 isoform 26

      Status: VALIDATED

      Source sequence(s)
      AC009309
    41. NM_001400132.1NP_001387061.1  MICOS complex subunit MIC60 isoform 27

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4E2B5
      Related
      ENST00000474969.5
    42. NM_001400133.1NP_001387062.1  MICOS complex subunit MIC60 isoform 28

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4E2B5
    43. NM_001400134.1NP_001387063.1  MICOS complex subunit MIC60 isoform 29

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4E2B5
    44. NM_001400135.1NP_001387064.1  MICOS complex subunit MIC60 isoform 30

      Status: VALIDATED

      Source sequence(s)
      AC009309
      UniProtKB/TrEMBL
      B4E2B5
    45. NM_001400137.1NP_001387066.1  MICOS complex subunit MIC60 isoform 31

      Status: VALIDATED

      Source sequence(s)
      AC009309
      Consensus CDS
      CCDS92794.1
      UniProtKB/TrEMBL
      C9J406, H7C463
      Related
      ENSP00000254636.5, ENST00000254636.9
    46. NM_001400138.1NP_001387067.1  MICOS complex subunit MIC60 isoform 32

      Status: VALIDATED

      Source sequence(s)
      AC009309
    47. NM_001400140.1NP_001387069.1  MICOS complex subunit MIC60 isoform 33

      Status: VALIDATED

      Source sequence(s)
      AC009309
    48. NM_001400142.1NP_001387071.1  MICOS complex subunit MIC60 isoform 34

      Status: VALIDATED

      Source sequence(s)
      AC009309
    49. NM_001400143.1NP_001387072.1  MICOS complex subunit MIC60 isoform 35

      Status: VALIDATED

      Source sequence(s)
      AC009309
    50. NM_001400144.1NP_001387073.1  MICOS complex subunit MIC60 isoform 36

      Status: VALIDATED

      Source sequence(s)
      AC009309
    51. NM_001400145.1NP_001387074.1  MICOS complex subunit MIC60 isoform 37

      Status: VALIDATED

      Source sequence(s)
      AC009309
    52. NM_006839.3NP_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:44746
      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_2024_08

    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)