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

Gene ID: 10989, updated on 2-Mar-2021

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
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Genomic context

See IMMT in Genome Data Viewer
Location:
2p11.2; 2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (86143932..86195463, complement)
105.20201022 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 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 Sharpr-MPRA regulatory region 10968 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 Functions

What's a GeneRIF?

Pathways from PubChem

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cristae formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner mitochondrial membrane organization IC
Inferred by Curator
more info
PubMed 
mitochondrial calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MIB complex HDA PubMed 
MICOS complex HDA PubMed 
MICOS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MICOS complex IDA
Inferred from Direct Assay
more info
PubMed 
SAM complex HDA PubMed 
membrane HDA PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial intermembrane space IEA
Inferred from Electronic Annotation
more info
 
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)

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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_001100169.2NP_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/Swiss-Prot
    Q16891
    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/Swiss-Prot
    Q16891
    Related
    ENSP00000396899.2, ENST00000449247.6
    Conserved Domains (1) summary
    pfam09731
    Location:44735
    Mitofilin; Mitochondrial inner membrane protein
  3. 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
    Q16891
    Related
    ENSP00000387262.3, ENST00000410111.7
    Conserved Domains (1) summary
    pfam09731
    Location:44746
    Mitofilin; Mitochondrial inner membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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..86195463 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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