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Aliases for TIMM21 Gene

Aliases for TIMM21 Gene

  • Translocase Of Inner Mitochondrial Membrane 21 2 3 5
  • TIM21-Like Protein, Mitochondrial 3 4
  • C18orf55 3 4
  • TIM21 3 4
  • Translocase Of Inner Mitochondrial Membrane 21 Homolog (Yeast) 2
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim21 3
  • Translocase Of Inner Mitochondrial Membrane 21 Homolog 3
  • Chromosome 18 Open Reading Frame 55 2
  • HSPC154 3

External Ids for TIMM21 Gene

Previous HGNC Symbols for TIMM21 Gene

  • C18orf55

Previous GeneCards Identifiers for TIMM21 Gene

  • GC18P071816

Summaries for TIMM21 Gene

GeneCards Summary for TIMM21 Gene

TIMM21 (Translocase Of Inner Mitochondrial Membrane 21) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Mitochondrial protein import.

UniProtKB/Swiss-Prot for TIMM21 Gene

  • Participates in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Also required for assembly of mitochondrial respiratory chain complex I and complex IV as component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex. Probably shuttles between the presequence translocase and respiratory-chain assembly intermediates in a process that promotes incorporation of early nuclear-encoded subunits into these complexes.

Additional gene information for TIMM21 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIMM21 Gene

Genomics for TIMM21 Gene

GeneHancer (GH) Regulatory Elements for TIMM21 Gene

Promoters and enhancers for TIMM21 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I074146 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 562.8 -0.4 -433 3.8 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B TIMM21 FBXO15 ZNF407 CYB5A
GH18I074082 Enhancer 1.1 FANTOM5 Ensembl ENCODE 12.9 -64.9 -64888 3.1 ELF3 CTCF KLF11 RNF2 ZNF792 ELF1 ZNF48 RAD21 KAT8 ZNF143 TIMM21 FBXO15 CYB5A ENSG00000263655
GH18I074139 Enhancer 1 FANTOM5 Ensembl 10.9 -8.7 -8739 0.5 MEIS2 PKNOX1 BATF ZBTB40 FOSL1 ZNF316 FOS NFE2 MAFK ZNF639 TIMM21 FBXO15 ENSG00000263655
GH18I074141 Enhancer 0.7 Ensembl 11.5 -8.1 -8110 0.4 HDGF ZNF639 PKNOX1 NR4A1 JUNB DPF2 ZBTB40 ZNF395 ZNF592 MEF2D TIMM21 FBXO15 ENSG00000263655
GH18I074061 Enhancer 0.5 ENCODE 12.2 -86.4 -86402 1.4 GATAD2A CEBPA HNF4A CEBPG TIMM21 FBXO15 CYB5A ENSG00000263655
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TIMM21 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TIMM21 Gene

Genomic Locations for TIMM21 Gene
chr18:74,148,511-74,160,530
(GRCh38/hg38)
Size:
12,020 bases
Orientation:
Plus strand
chr18:71,815,746-71,826,204
(GRCh37/hg19)

Genomic View for TIMM21 Gene

Genes around TIMM21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMM21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMM21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM21 Gene

Proteins for TIMM21 Gene

  • Protein details for TIMM21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVV7-TIM21_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit Tim21
    Protein Accession:
    Q9BVV7
    Secondary Accessions:
    • Q9P010

    Protein attributes for TIMM21 Gene

    Size:
    248 amino acids
    Molecular mass:
    28202 Da
    Quaternary structure:
    • Component of the TIM23 complex. Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, the core components of this complex being COA3/MITRAC12 and COX14 (Probable) (PubMed:23260140). Interacts with COA3 AND MT-CO1/COX1 (PubMed:26321642).

neXtProt entry for TIMM21 Gene

Post-translational modifications for TIMM21 Gene

No Post-translational modifications

Other Protein References for TIMM21 Gene

No data available for DME Specific Peptides for TIMM21 Gene

Domains & Families for TIMM21 Gene

Gene Families for TIMM21 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TIMM21 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TIMM21 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BVV7

UniProtKB/Swiss-Prot:

TIM21_HUMAN :
  • Belongs to the TIM21 family.
Family:
  • Belongs to the TIM21 family.
genes like me logo Genes that share domains with TIMM21: view

Function for TIMM21 Gene

Molecular function for TIMM21 Gene

UniProtKB/Swiss-Prot Function:
Participates in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Also required for assembly of mitochondrial respiratory chain complex I and complex IV as component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex. Probably shuttles between the presequence translocase and respiratory-chain assembly intermediates in a process that promotes incorporation of early nuclear-encoded subunits into these complexes.

Phenotypes From GWAS Catalog for TIMM21 Gene

Gene Ontology (GO) - Molecular Function for TIMM21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 23260140
genes like me logo Genes that share ontologies with TIMM21: view

Phenotypes for TIMM21 Gene

GenomeRNAi human phenotypes for TIMM21:
genes like me logo Genes that share phenotypes with TIMM21: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TIMM21 Gene

Localization for TIMM21 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM21 Gene

Mitochondrion membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TIMM21 gene
Compartment Confidence
mitochondrion 5
nucleus 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TIMM21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005744 mitochondrial inner membrane presequence translocase complex IEA,IDA 23260140
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with TIMM21: view

Pathways & Interactions for TIMM21 Gene

genes like me logo Genes that share pathways with TIMM21: view

Pathways by source for TIMM21 Gene

2 Reactome pathways for TIMM21 Gene

Gene Ontology (GO) - Biological Process for TIMM21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0030150 protein import into mitochondrial matrix IMP,IEA 23260140
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 23260140
GO:0033617 mitochondrial respiratory chain complex IV assembly IMP 23260140
genes like me logo Genes that share ontologies with TIMM21: view

No data available for SIGNOR curated interactions for TIMM21 Gene

Drugs & Compounds for TIMM21 Gene

No Compound Related Data Available

Transcripts for TIMM21 Gene

Unigene Clusters for TIMM21 Gene

Translocase of inner mitochondrial membrane 21 homolog (yeast):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM21 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: - -
SP2: - -
SP3: -
SP4: -
SP5:

Relevant External Links for TIMM21 Gene

GeneLoc Exon Structure for
TIMM21
ECgene alternative splicing isoforms for
TIMM21

Expression for TIMM21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TIMM21 Gene

Protein differential expression in normal tissues from HIPED for TIMM21 Gene

This gene is overexpressed in Bone (26.7) and Peripheral blood mononuclear cells (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TIMM21 Gene



Protein tissue co-expression partners for TIMM21 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TIMM21 Gene:

TIMM21

SOURCE GeneReport for Unigene cluster for TIMM21 Gene:

Hs.532835

Evidence on tissue expression from TISSUES for TIMM21 Gene

  • Blood(4.1)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with TIMM21: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TIMM21 Gene

Orthologs for TIMM21 Gene

This gene was present in the common ancestor of animals.

Orthologs for TIMM21 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMM21 33 34
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia TIMM21 33 34
  • 82.38 (n)
cow
(Bos Taurus)
Mammalia TIMM21 33 34
  • 81.97 (n)
rat
(Rattus norvegicus)
Mammalia Timm21 33
  • 79.46 (n)
mouse
(Mus musculus)
Mammalia Timm21 33 16 34
  • 77.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TIMM21 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves C18ORF55 33
  • 65.44 (n)
TIMM21 34
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TIMM21 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia timm21 33
  • 71.06 (n)
Str.5951 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10854 33
zebrafish
(Danio rerio)
Actinopterygii si:dkey-118j18.1 33
  • 67.44 (n)
TIMM21 34
  • 50 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008572 33
  • 49.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7382 33 34
  • 48.59 (n)
worm
(Caenorhabditis elegans)
Secernentea F56B3.11 33 34
  • 43.88 (n)
Species where no ortholog for TIMM21 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TIMM21 Gene

ENSEMBL:
Gene Tree for TIMM21 (if available)
TreeFam:
Gene Tree for TIMM21 (if available)

Paralogs for TIMM21 Gene

(1) SIMAP similar genes for TIMM21 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TIMM21: view

No data available for Paralogs for TIMM21 Gene

Variants for TIMM21 Gene

Sequence variations from dbSNP and Humsavar for TIMM21 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000194548 -- 74,147,177(+) C/G upstream_transcript_variant
rs1000227084 -- 74,147,932(+) C/T upstream_transcript_variant
rs1000265302 -- 74,149,885(+) C/T intron_variant
rs1000474573 -- 74,147,923(+) A/C/G/T upstream_transcript_variant
rs1000599469 -- 74,151,125(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TIMM21 Gene

Variant ID Type Subtype PubMed ID
nsv577650 CNV loss 21841781
esv3643105 CNV loss 21293372
esv27743 CNV loss 19812545
dgv3400n100 CNV gain 25217958

Variation tolerance for TIMM21 Gene

Residual Variation Intolerance Score: 53.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.57; 65.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TIMM21 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM21

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMM21 Gene

Disorders for TIMM21 Gene

Additional Disease Information for TIMM21

No disorders were found for TIMM21 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TIMM21 Gene

Publications for TIMM21 Gene

  1. MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. (PMID: 23260140) Mick DU … Rehling P (Cell 2012) 2 3 4 58
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 58
  3. MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly. (PMID: 26321642) Dennerlein S … Rehling P (Cell reports 2015) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58

Products for TIMM21 Gene

Sources for TIMM21 Gene

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