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

Gene ID: 29090, updated on 13-Apr-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. Part of TIM23 mitochondrial import inner membrane translocase complex. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (74148523..74160531)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (74369489..74381497)
105.20220307 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
  • 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. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. Mick DU, et al. Cell, 2012 Dec 21. PMID 23260140
  3. Genetic and structural characterization of the human mitochondrial inner membrane translocase. Bauer MF, et al. J Mol Biol, 1999 May 28. PMID 10339406
  4. 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
  5. Comparative Multiplexed Interactomics of SARS-CoV-2 and Homologous Coronavirus Nonstructural Proteins Identifies Unique and Shared Host-Cell Dependencies. Davies JP, et al. ACS Infect Dis, 2020 Dec 11. PMID 33263384, Free PMC Article

See all (35) 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 

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_2023_10

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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