Aliases for TIMM29 Gene

Aliases for TIMM29 Gene

  • Translocase Of Inner Mitochondrial Membrane 29 2 3 5
  • TIM29 2 3 4
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim29 3 4
  • C19orf52 3 4
  • Chromosome 19 Open Reading Frame 52 2
  • Uncharacterized Protein C19orf52 3
  • TIMM29 5

External Ids for TIMM29 Gene

Previous HGNC Symbols for TIMM29 Gene

  • C19orf52

Summaries for TIMM29 Gene

GeneCards Summary for TIMM29 Gene

TIMM29 (Translocase Of Inner Mitochondrial Membrane 29) is a Protein Coding gene. Diseases associated with TIMM29 include Sengers Syndrome and Visual Cortex Disease.

UniProtKB/Swiss-Prot Summary for TIMM29 Gene

  • Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. Required for the stability of the TIM22 complex and functions in the assembly of the TIMM22 protein into the TIM22 complex. May facilitate cooperation between TIM22 and TOM complexes by interacting with TOMM40.

Additional gene information for TIMM29 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TIMM29 Gene

Genomics for TIMM29 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TIMM29 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TIMM29 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TIMM29

Genomic Locations for TIMM29 Gene

Genomic Locations for TIMM29 Gene
chr19:10,928,811-10,933,535
(GRCh38/hg38)
Size:
4,725 bases
Orientation:
Plus strand
chr19:11,039,409-11,044,211
(GRCh37/hg19)
Size:
4,803 bases
Orientation:
Plus strand

Genomic View for TIMM29 Gene

Genes around TIMM29 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMM29 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMM29 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM29 Gene

Proteins for TIMM29 Gene

  • Protein details for TIMM29 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSF4-TIM29_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit Tim29
    Protein Accession:
    Q9BSF4
    Secondary Accessions:
    • Q96EY6
    • Q96IT8

    Protein attributes for TIMM29 Gene

    Size:
    260 amino acids
    Molecular mass:
    29233 Da
    Quaternary structure:
    • Component of the TIM22 complex, which core is composed of TIMM22, associated with TIMM10 (TIMM10A and/or TIMM10B), TIMM9, AGK and TIMM29 (PubMed:27554484, PubMed:27718247, PubMed:28712724, PubMed:28712726). Interacts with TIMM10B; the interaction is direct (PubMed:27554484). Interacts with TOMM40; linking the TIM22 complex to the TOM complex (PubMed:27554484). Interacts with TIMM22 (when oxidized); the interaction is direct (PubMed:27718247).

neXtProt entry for TIMM29 Gene

Post-translational modifications for TIMM29 Gene

  • Ubiquitination at Lys216
  • Modification sites at PhosphoSitePlus

Other Protein References for TIMM29 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TIMM29 Gene

Domains & Families for TIMM29 Gene

Gene Families for TIMM29 Gene

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

Protein Domains for TIMM29 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with TIMM29: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TIMM29 Gene

Function for TIMM29 Gene

Molecular function for TIMM29 Gene

UniProtKB/Swiss-Prot Function:
Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. Required for the stability of the TIM22 complex and functions in the assembly of the TIMM22 protein into the TIM22 complex. May facilitate cooperation between TIM22 and TOM complexes by interacting with TOMM40.

Phenotypes From GWAS Catalog for TIMM29 Gene

Gene Ontology (GO) - Molecular Function for TIMM29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27554484
genes like me logo Genes that share ontologies with TIMM29: view

Phenotypes for TIMM29 Gene

genes like me logo Genes that share phenotypes with TIMM29: view

Animal Model Products

CRISPR Products

miRNA for TIMM29 Gene

miRTarBase miRNAs that target TIMM29

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM29

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TIMM29 Gene

Localization for TIMM29 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM29 Gene

Mitochondrion inner membrane. Single-pass membrane protein. Intermembrane side.

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 TIMM29 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 1
plasma membrane 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TIMM29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA,IDA 27554484
GO:0005758 mitochondrial intermembrane space IDA 27554484
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TIMM29: view

Pathways & Interactions for TIMM29 Gene

PathCards logo

SuperPathways for TIMM29 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TIMM29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0045039 protein import into mitochondrial inner membrane IDA 28712724
genes like me logo Genes that share ontologies with TIMM29: view

No data available for Pathways by source and SIGNOR curated interactions for TIMM29 Gene

Drugs & Compounds for TIMM29 Gene

No Compound Related Data Available

Transcripts for TIMM29 Gene

mRNA/cDNA for TIMM29 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM29

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM29 Gene

No ASD Table

Relevant External Links for TIMM29 Gene

GeneLoc Exon Structure for
TIMM29

Expression for TIMM29 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TIMM29

Evidence on tissue expression from TISSUES for TIMM29 Gene

  • Lung(4.2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TIMM29 Gene

Orthologs for TIMM29 Gene

This gene was present in the common ancestor of animals.

Orthologs for TIMM29 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C19H19orf52 30
  • 99.36 (n)
C19orf52 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C20H19orf52 30
  • 86.41 (n)
C19orf52 31
  • 84 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C7H19orf52 30 31
  • 85.26 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia 1810026J23Rik 30 31
  • 79.36 (n)
OneToOne
Timm29 17
Rat
(Rattus norvegicus)
Mammalia RGD1309188 30
  • 78.85 (n)
Oppossum
(Monodelphis domestica)
Mammalia C19orf52 31
  • 65 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C19orf52 31
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c19orf52 30
  • 59.74 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:110046 30
  • 52.38 (n)
C3H19orf52 31
  • 42 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001454 30
  • 48.31 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG14270 30 31
  • 46.85 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea R04F11.5 31
  • 26 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToOne
Species where no ortholog for TIMM29 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 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 TIMM29 Gene

ENSEMBL:
Gene Tree for TIMM29 (if available)
TreeFam:
Gene Tree for TIMM29 (if available)

Paralogs for TIMM29 Gene

No data available for Paralogs for TIMM29 Gene

Variants for TIMM29 Gene

Additional dbSNP identifiers (rs#s) for TIMM29 Gene

Structural Variations from Database of Genomic Variants (DGV) for TIMM29 Gene

Variant ID Type Subtype PubMed ID
nsv833749 CNV loss 17160897

Variation tolerance for TIMM29 Gene

Gene Damage Index Score: 0.91; 18.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TIMM29 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM29

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TIMM29 Gene

Disorders for TIMM29 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TIMM29 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
sengers syndrome
  • mitochondrial dna depletion syndrome 10 ; mtdps10
visual cortex disease
  • visual cortex dysfunction
visual pathway disease
  • disorder of visual pathways
mohr-tranebjaerg syndrome
  • dds
cortical blindness
  • blindness, cortical
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with TIMM29: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TIMM29 Gene

Publications for TIMM29 Gene

  1. Tim29 is a novel subunit of the human TIM22 translocase and is involved in complex assembly and stability. (PMID: 27554484) Kang Y … Stojanovski D (eLife 2016) 2 3 4
  2. Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. (PMID: 28712724) Vukotic M … Langer T (Molecular cell 2017) 3 4
  3. Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex. (PMID: 28712726) Kang Y … Stojanovski D (Molecular cell 2017) 3 4
  4. TIM29 is a subunit of the human carrier translocase required for protein transport. (PMID: 27718247) Callegari S … Rehling P (FEBS letters 2016) 3 4
  5. 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

Products for TIMM29 Gene

Sources for TIMM29 Gene