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Aliases for TAMM41 Gene

Aliases for TAMM41 Gene

  • TAM41 Mitochondrial Translocator Assembly And Maintenance Homolog 2 3 5
  • Mitochondrial Translocator Assembly And Maintenance Protein 41 Homolog 3 4
  • CDP-Diacylglycerol Synthase 3 4
  • CDP-DAG Synthase 3 4
  • C3orf31 3 4
  • TAM41 3 4
  • TAM41, Mitochondrial Translocator Assembly And Maintenance Protein, Homolog (S. Cerevisiae) 2
  • TAM41, Mitochondrial Translocator Assembly And Maintenance Protein, Homolog 3
  • Phosphatidate Cytidylyltransferase, Mitochondrial 3
  • Chromosome 3 Open Reading Frame 31 2
  • MMP37-Like Protein, Mitochondrial 3
  • EC 2.7.7.41 4
  • RAM41 3

External Ids for TAMM41 Gene

Previous HGNC Symbols for TAMM41 Gene

  • C3orf31

Summaries for TAMM41 Gene

GeneCards Summary for TAMM41 Gene

TAMM41 (TAM41 Mitochondrial Translocator Assembly And Maintenance Homolog) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include phosphatidate cytidylyltransferase activity.

UniProtKB/Swiss-Prot for TAMM41 Gene

  • Catalyzes the formation of CDP-diacylglycerol (CDP-DAG) from phosphatidic acid (PA) in the mitochondrial inner membrane. Required for the biosynthesis of the dimeric phospholipid cardiolipin, which stabilizes supercomplexes of the mitochondrial respiratory chain in the mitochondrial inner membrane (By similarity).

Additional gene information for TAMM41 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 TAMM41 Gene

Genomics for TAMM41 Gene

GeneHancer (GH) Regulatory Elements for TAMM41 Gene

Promoters and enhancers for TAMM41 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
GH03I011845 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 595.5 +0.2 246 2.8 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B TAMM41 VGLL4 ENSG00000271716 TSEN2 RPL32
GH03I012838 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 40.8 -993.9 -993883 3.6 CLOCK DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF143 SP3 SSRP1 NBN SNORA7A GC03M012844 GC03M012841 GC03M012839 RPL32 TAMM41 ENSG00000272263 TSEN2 LINC02022 CAND2
GH03I012362 Enhancer 0.8 dbSUPER 96.6 -516.8 -516845 2.6 ZNF529 ZFP64 ZNF213 ZNF354C ZNF138 ZNF214 ZNF202 ZNF680 SP3 ZBTB11 TAMM41 TSEN2 ENSG00000271716 VGLL4 ENSG00000272263 RPL32 MKRN2 TIMP4 SYN2 PPARG
GH03I012555 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 26.9 -710.6 -710559 3.3 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 ZNF610 GLIS1 NBN MKRN2 TAMM41 TSEN2 ENSG00000272263 ENSG00000271716 MKRN2OS GC03P012338
GH03I011117 Enhancer 0.7 ENCODE 62.8 +728.6 728616 1.2 ZNF202 ZBTB11 ZFP37 ZNF140 ZNF266 REST ZBTB8A ZNF781 ZNF518A ZNF697 TAMM41 ENSG00000271716 GHRLOS VGLL4 LINC00852 SEC13 HRH1 LOC101927467
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TAMM41 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TAMM41 Gene

Genomic Locations for TAMM41 Gene
chr3:11,790,442-11,846,919
(GRCh38/hg38)
Size:
56,478 bases
Orientation:
Minus strand
chr3:11,831,916-11,888,393
(GRCh37/hg19)

Genomic View for TAMM41 Gene

Genes around TAMM41 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAMM41 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAMM41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAMM41 Gene

Proteins for TAMM41 Gene

  • Protein details for TAMM41 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BW9-TAM41_HUMAN
    Recommended name:
    Phosphatidate cytidylyltransferase, mitochondrial
    Protein Accession:
    Q96BW9
    Secondary Accessions:
    • B4DIY7
    • C9J2U4

    Protein attributes for TAMM41 Gene

    Size:
    452 amino acids
    Molecular mass:
    51067 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TAMM41 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TAMM41 Gene

Post-translational modifications for TAMM41 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TAMM41 Gene

Domains & Families for TAMM41 Gene

Gene Families for TAMM41 Gene

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

Protein Domains for TAMM41 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TAMM41 Gene

Graphical View of Domain Structure for InterPro Entry

Q96BW9

UniProtKB/Swiss-Prot:

TAM41_HUMAN :
  • Belongs to the TAM41 family.
Family:
  • Belongs to the TAM41 family.
genes like me logo Genes that share domains with TAMM41: view

Function for TAMM41 Gene

Molecular function for TAMM41 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CTP + phosphatidate = diphosphate + CDP-diacylglycerol.
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of CDP-diacylglycerol (CDP-DAG) from phosphatidic acid (PA) in the mitochondrial inner membrane. Required for the biosynthesis of the dimeric phospholipid cardiolipin, which stabilizes supercomplexes of the mitochondrial respiratory chain in the mitochondrial inner membrane (By similarity).

Enzyme Numbers (IUBMB) for TAMM41 Gene

Phenotypes From GWAS Catalog for TAMM41 Gene

Gene Ontology (GO) - Molecular Function for TAMM41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004605 phosphatidate cytidylyltransferase activity ISS --
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with TAMM41: view
genes like me logo Genes that share phenotypes with TAMM41: view

Animal Models for TAMM41 Gene

MGI Knock Outs for TAMM41:

Animal Model Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TAMM41 Gene

Localization for TAMM41 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAMM41 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix 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 TAMM41 gene
Compartment Confidence
mitochondrion 5
cytosol 3
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TAMM41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0031314 extrinsic component of mitochondrial inner membrane ISS --
genes like me logo Genes that share ontologies with TAMM41: view

Pathways & Interactions for TAMM41 Gene

SuperPathways for TAMM41 Gene

No Data Available

UniProtKB/Swiss-Prot Q96BW9-TAM41_HUMAN

  • Pathway: Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 3/3.

Gene Ontology (GO) - Biological Process for TAMM41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0016024 CDP-diacylglycerol biosynthetic process IEA --
GO:0032049 cardiolipin biosynthetic process ISS,IEA --
genes like me logo Genes that share ontologies with TAMM41: view

No data available for Pathways by source and SIGNOR curated interactions for TAMM41 Gene

Drugs & Compounds for TAMM41 Gene

No Compound Related Data Available

Transcripts for TAMM41 Gene

Unigene Clusters for TAMM41 Gene

TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TAMM41 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2: - - - - -
SP3:
SP4:
SP5:

Relevant External Links for TAMM41 Gene

GeneLoc Exon Structure for
TAMM41
ECgene alternative splicing isoforms for
TAMM41

Expression for TAMM41 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TAMM41 Gene

Protein differential expression in normal tissues from HIPED for TAMM41 Gene

This gene is overexpressed in Breast (40.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TAMM41 Gene



Protein tissue co-expression partners for TAMM41 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TAMM41 Gene:

TAMM41

SOURCE GeneReport for Unigene cluster for TAMM41 Gene:

Hs.475472

Evidence on tissue expression from TISSUES for TAMM41 Gene

  • Skin(4.2)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with TAMM41: 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 TAMM41 Gene

Orthologs for TAMM41 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TAMM41 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TAMM41 33 34
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia TAMM41 33 34
  • 91.2 (n)
cow
(Bos Taurus)
Mammalia TAMM41 33 34
  • 87.56 (n)
-- 34
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tamm41 33
  • 82.39 (n)
mouse
(Mus musculus)
Mammalia Tamm41 33 16 34
  • 81.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TAMM41 34
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TAMM41 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAMM41 33 34
  • 71.63 (n)
lizard
(Anolis carolinensis)
Reptilia TAMM41 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tamm41 33
  • 66.12 (n)
Str.5567 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13122 33
zebrafish
(Danio rerio)
Actinopterygii tamm41 33 34
  • 66.27 (n)
Dr.16518 33
fruit fly
(Drosophila melanogaster)
Insecta CG33331 33 34
  • 48.2 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004242 33
  • 48.05 (n)
worm
(Caenorhabditis elegans)
Secernentea Y71F9B.2 33 34
  • 46.5 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAM41 34 36
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G47630 33
  • 48.04 (n)
rice
(Oryza sativa)
Liliopsida Os11g0549690 33
  • 54.41 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04429 33
  • 49.26 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tam41 33
  • 49.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToOne
Species where no ortholog for TAMM41 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TAMM41 Gene

ENSEMBL:
Gene Tree for TAMM41 (if available)
TreeFam:
Gene Tree for TAMM41 (if available)

Paralogs for TAMM41 Gene

No data available for Paralogs for TAMM41 Gene

Variants for TAMM41 Gene

Sequence variations from dbSNP and Humsavar for TAMM41 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000005940 -- 11,826,493(-) C/T intron_variant
rs1000040520 -- 11,806,345(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000049683 -- 11,791,942(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000057109 -- 11,757,458(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000058378 -- 11,766,355(-) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TAMM41 Gene

Variant ID Type Subtype PubMed ID
dgv4681n100 CNV gain 25217958
dgv762e201 CNV deletion 23290073
esv2677845 CNV deletion 23128226
esv4117 OTHER complex 18987735
nsv1073204 CNV deletion 25765185
nsv1121603 CNV deletion 24896259
nsv3700 CNV deletion 18451855
nsv436362 CNV deletion 17901297
nsv436869 CNV insertion 17901297
nsv589683 CNV gain 21841781
nsv821991 CNV loss 20364138
nsv834616 CNV loss 17160897

Variation tolerance for TAMM41 Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.01; 84.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TAMM41 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAMM41

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAMM41 Gene

Disorders for TAMM41 Gene

Additional Disease Information for TAMM41

No disorders were found for TAMM41 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TAMM41 Gene

Publications for TAMM41 Gene

  1. Mitochondrial membrane biogenesis: phospholipids and proteins go hand in hand. (PMID: 19237595) Gohil VM … Greenberg ML (The Journal of cell biology 2009) 2 3 58
  2. Identification of Tam41 maintaining integrity of the TIM23 protein translocator complex in mitochondria. (PMID: 16943180) Tamura Y … Endo T (The Journal of cell biology 2006) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 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. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TAMM41 Gene

Sources for TAMM41 Gene

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