ENSG00000108064


Homo sapiens

Features
Gene ID: ENSG00000108064
  
Biological name :TFAM
  
Synonyms : Q00059 / TFAM / transcription factor A, mitochondrial
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q21.1
Gene start: 58385022
Gene end: 58399221
  
Corresponding Affymetrix probe sets: 203176_s_at (Human Genome U133 Plus 2.0 Array)   203177_x_at (Human Genome U133 Plus 2.0 Array)   208541_x_at (Human Genome U133 Plus 2.0 Array)   238443_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000420588
Ensembl peptide - ENSP00000363002
Ensembl peptide - ENSP00000378776
NCBI entrez gene - 7019     See in Manteia.
OMIM - 600438
RefSeq - XM_011540121
RefSeq - NM_001270782
RefSeq - NM_003201
RefSeq - XM_011540120
RefSeq Peptide - NP_001257711
RefSeq Peptide - NP_003192
swissprot - H7BYN3
swissprot - Q00059
swissprot - E5KSU5
Ensembl - ENSG00000108064
  
Related genetic diseases (OMIM): 617156 - ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tfamENSDARG00000063145Danio rerio
 TFAMENSGALG00000002703Gallus gallus
 TfamENSMUSG00000003923Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR009071  High mobility group box domain
 IPR036910  High mobility group box domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006390 mitochondrial transcription IMP
 biological_processGO:0006391 transcription initiation from mitochondrial promoter IDA
 biological_processGO:0007005 mitochondrion organization TAS
 biological_processGO:0033108 mitochondrial respiratory chain complex assembly IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0042645 mitochondrial nucleoid IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001018 mitochondrial promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IC
 molecular_functionGO:0001223 transcription coactivator binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IMP
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008301 DNA binding, bending IDA
 molecular_functionGO:0031072 heat shock protein binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IDA


Pathways (from Reactome)
Pathway description
Mitochondrial transcription initiation
Transcriptional activation of mitochondrial biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0001394 Cirrhosis 
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 HP:0001399 Hepatic failure 
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 HP:0001414 Microvesicular steatosis 
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 HP:0001508 Failure to thrive 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001522 Death in infancy 
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 HP:0001541 Ascites 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0003256 Abnormalities of the clotting factors 
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 HP:0003577 Onset at birth 
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 HP:0003676 Progressive disorder 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000162851 TFB2M / Q9H5Q4 / transcription factor B2, mitochondrial  / complex / reaction
 ENSG00000099821 O00411 / POLRMT / RNA polymerase mitochondrial  / complex / reaction






 

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