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    TIMM21 translocase of inner mitochondrial membrane 21 [ Homo sapiens (human) ]

    Gene ID: 29090, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TIMM21provided by HGNC
    Official Full Name
    translocase of inner mitochondrial membrane 21provided by HGNC
    Primary source
    HGNC:HGNC:25010
    See related
    Ensembl:ENSG00000075336 MIM:615180; AllianceGenome:HGNC:25010
    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
    TIM21; HSPC154; C18orf55
    Summary
    Involved in mitochondrial cytochrome c oxidase assembly; mitochondrial respiratory chain complex I assembly; and protein import into mitochondrial matrix. Located in mitochondrion. Part of TIM23 mitochondrial import inner membrane translocase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 23.3), kidney (RPKM 13.3) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See TIMM21 in Genome Data Viewer
    Location:
    18q22.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (74148523..74160531)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (74369489..74381497)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (71815758..71827766)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904358 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50059 Neighboring gene Sharpr-MPRA regulatory region 9472 Neighboring gene F-box protein 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13493 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:71817752-71818951 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:71822138-71823337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13494 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:71864836-71865492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:71904867-71905366 Neighboring gene RNA, 7SL, cytoplasmic 551, pseudogene Neighboring gene Sharpr-MPRA regulatory region 12176 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:71917515-71918450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:71935092-71935632 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50263 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50279 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:71948314-71948841 Neighboring gene cytochrome b5 type A Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:71957777-71958384 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50301

    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 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. MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly. Dennerlein S, et al. Cell Rep, 2015 Sep 8. PMID 26321642
    2. ROMO1 is a constituent of the human presequence translocase required for YME1L protease import. Richter F, et al. J Cell Biol, 2019 Feb 4. PMID 30598479, Free PMC Article
    3. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. Mick DU, et al. Cell, 2012 Dec 21. PMID 23260140
    4. Genetic and structural characterization of the human mitochondrial inner membrane translocase. Bauer MF, et al. J Mol Biol, 1999 May 28. PMID 10339406
    5. Inhibition of UBE2D3 expression attenuates radiosensitivity of MCF-7 human breast cancer cells by increasing hTERT expression and activity. Wang W, et al. PLoS One, 2013. PMID 23741361, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TIM21 is dispensable for protein import but required for integration of early-assembling, presequence-containing subunits into respiratory-chain intermediates.
      Title: MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial cytochrome c oxidase assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein import into mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein import into mitochondrial matrix IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of TIM23 mitochondrial import inner membrane translocase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of TIM23 mitochondrial import inner membrane translocase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of TIM23 mitochondrial import inner membrane translocase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial intermembrane space TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    mitochondrial import inner membrane translocase subunit Tim21
    Names
    TIM21-like protein, mitochondrial
    translocase of inner mitochondrial membrane 21 homolog

    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_014177.3 → NP_054896.2  mitochondrial import inner membrane translocase subunit Tim21 precursor

      See identical proteins and their annotated locations for NP_054896.2

      Status: VALIDATED

      Source sequence(s)
      AC084702, BC000892, BG431414, BG820086
      Consensus CDS
      CCDS12003.1
      UniProtKB/Swiss-Prot
      Q9BVV7, Q9P010
      UniProtKB/TrEMBL
      A8K1K8
      Related
      ENSP00000169551.6, ENST00000169551.11
      Conserved Domains (1) summary
      pfam08294
      Location:100 → 244
      TIM21; TIM21

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      74148523..74160531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266689.5 → XP_005266746.1  mitochondrial import inner membrane translocase subunit Tim21 isoform X1

      Conserved Domains (1) summary
      cl21648
      Location:74 → 195
      Coa1; Cytochrome oxidase complex assembly protein 1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      74369489..74381497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318544.1 → XP_054174519.1  mitochondrial import inner membrane translocase subunit Tim21 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVV7.1 GenPept UniProtKB/Swiss-Prot:Q9BVV7

    Gene LinkOut

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

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