Aliases for TIMM21 Gene

Aliases for TIMM21 Gene

  • Translocase Of Inner Mitochondrial Membrane 21 2 3 5
  • TIM21 2 3 4
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim21 3 4
  • TIM21-Like Protein, Mitochondrial 3 4
  • C18orf55 3 4
  • HSPC154 2 3
  • Translocase Of Inner Mitochondrial Membrane 21 Homolog (Yeast) 2
  • Translocase Of Inner Mitochondrial Membrane 21 Homolog 3
  • Chromosome 18 Open Reading Frame 55 2
  • TIMM21 5

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. Diseases associated with TIMM21 include Neuropathy, Ataxia, And Retinitis Pigmentosa. Among its related pathways are Metabolism of proteins and Mitochondrial protein import.

UniProtKB/Swiss-Prot Summary 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.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TIMM21 Gene

Genomics for TIMM21 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH18J074146 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 263.6 -0.1 -131 4.4 ZSCAN16 CHD2 TBP ZBTB10 MXD4 SIX5 NR2C1 MNT IKZF1 SMAD5 TIMM21 FBXO15 MF281439 NONHSAG024161.2 ZNF407 CYB5A CNDP1
GH18J074082 Enhancer 1.1 FANTOM5 Ensembl ENCODE 12.9 -64.9 -64894 3.1 CTCF ELF1 THAP11 SMAD4 MIER3 GABPB1 TEAD3 SMC3 RAD21 ZNF48 TIMM21 FBXO15 CYB5A piR-38872-002 lnc-CYB5A-3 ENSG00000263655
GH18J074060 Enhancer 0.9 FANTOM5 Ensembl ENCODE 12.2 -85.1 -85116 6.8 CEBPA SPI1 RFX1 CEBPG HNF4A TCF12 CTCF CHD2 TIMM21 FBXO15 CYB5A ZNF407-AS1 ENSG00000263655 piR-38872-002
GH18J074342 Enhancer 0.7 Ensembl ENCODE 10 +194.1 194125 0.5 CTCF REST TRIM22 SMC3 RAD21 ZNF384 ARID3A PRDM1 ZNF654 CNDP1 CYB5A FBXO15 TIMM21 piR-59907-012 C18orf63 RF00017-2704 HSALNG0122433 DIPK1C
GH18J074040 Enhancer 0.8 Ensembl ENCODE 8.7 -107.7 -107716 2 CTCF REST SMC3 YY1 RAD21 SPI1 MYC MAX ZNF48 EGR1 TIMM21 FBXO15 ENSG00000263655 piR-38872-002
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TIMM21 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TIMM21

Genomic Locations for TIMM21 Gene

Latest Assembly
chr18:74,148,517-74,160,531
(GRCh38/hg38)
Size:
12,015 bases
Orientation:
Plus strand

Previous Assembly
chr18:71,815,758-71,827,766
(GRCh37/hg19 by Entrez Gene)
Size:
12,009 bases
Orientation:
Plus strand

chr18:71,815,746-71,826,197
(GRCh37/hg19 by Ensembl)
Size:
10,452 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94576 (A8K1K8_HUMAN)
  • TIM21-like protein, mitochondrial (TI21L_HUMAN)

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

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM21

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
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
peroxisome 1
cytosol 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for TIMM21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005744 TIM23 mitochondrial import inner membrane 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TIMM21 Gene

Pathways & Interactions for TIMM21 Gene

PathCards logo

SuperPathways 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:0015031 protein transport IEA --
GO:0030150 protein import into mitochondrial matrix IEA,IMP 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

mRNA/cDNA for TIMM21 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM21

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

Expression for TIMM21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TIMM21 Gene



Protein tissue co-expression partners for TIMM21 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TIMM21

SOURCE GeneReport for Unigene cluster for TIMM21 Gene:

Hs.532835

Evidence on tissue expression from TISSUES for TIMM21 Gene

  • Blood(4.3)
  • Nervous system(2.5)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with TIMM21: view

Primer products for research

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 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TIMM21 30 31
  • 82.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TIMM21 30 31
  • 81.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Timm21 30
  • 79.46 (n)
Mouse
(Mus musculus)
Mammalia Timm21 30 17 31
  • 77.73 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia TIMM21 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C18ORF55 30
  • 65.44 (n)
TIMM21 31
  • 57 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TIMM21 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia timm21 30
  • 71.06 (n)
Str.5951 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10854 30
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-118j18.1 30
  • 67.44 (n)
TIMM21 31
  • 50 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008572 30
  • 49.9 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7382 30 31
  • 48.59 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F56B3.11 30 31
  • 43.88 (n)
OneToOne
Species where no ortholog for TIMM21 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TIMM21: view image

Paralogs for TIMM21 Gene

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

  • TIM21_HUMAN
  • J3KRJ3_HUMAN
  • J3QRI1_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TIMM21 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs3737512 - p.Gly79Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TIMM21 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TIMM21 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TIMM21 Gene - From: COP

Disorder Aliases PubMed IDs
neuropathy, ataxia, and retinitis pigmentosa
  • narp syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TIMM21

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

No data available for 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
  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
  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
  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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for TIMM21 Gene

Sources for TIMM21 Gene