ENSG00000042088


Homo sapiens

Features
Gene ID: ENSG00000042088
  
Biological name :TDP1
  
Synonyms : Q9NUW8 / TDP1 / tyrosyl-DNA phosphodiesterase 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q32.11
Gene start: 89954939
Gene end: 90044768
  
Corresponding Affymetrix probe sets: 219715_s_at (Human Genome U133 Plus 2.0 Array)   226044_at (Human Genome U133 Plus 2.0 Array)   240822_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000452279
Ensembl peptide - ENSP00000452183
Ensembl peptide - ENSP00000452333
Ensembl peptide - ENSP00000452363
Ensembl peptide - ENSP00000337353
Ensembl peptide - ENSP00000377098
Ensembl peptide - ENSP00000377099
Ensembl peptide - ENSP00000444587
Ensembl peptide - ENSP00000450628
Ensembl peptide - ENSP00000450708
Ensembl peptide - ENSP00000450795
Ensembl peptide - ENSP00000450872
Ensembl peptide - ENSP00000451358
Ensembl peptide - ENSP00000451767
Ensembl peptide - ENSP00000452042
NCBI entrez gene - 55775     See in Manteia.
OMIM - 607198
RefSeq - XM_017021446
RefSeq - NM_001008744
RefSeq - NM_018319
RefSeq - XM_005267847
RefSeq - XM_005267848
RefSeq - XM_006720197
RefSeq - XM_006720198
RefSeq - XM_006720199
RefSeq - XM_011536942
RefSeq - XM_011536943
RefSeq - XM_011536944
RefSeq - XM_017021439
RefSeq - XM_017021440
RefSeq - XM_017021441
RefSeq - XM_017021442
RefSeq - XM_017021443
RefSeq - XM_017021444
RefSeq - XM_017021445
RefSeq Peptide - NP_001008744
RefSeq Peptide - NP_001317134
RefSeq Peptide - NP_060789
swissprot - G3V2J6
swissprot - G3V2U6
swissprot - G3V3Q0
swissprot - G3V4W8
swissprot - G3V554
swissprot - G3V5B8
swissprot - Q9BRS7
swissprot - G3V5H9
swissprot - H0YJ44
swissprot - H0YJL7
swissprot - Q9NUW8
swissprot - A0A024R6L5
swissprot - G3V5F9
swissprot - E7EPD8
swissprot - G3V2F4
Ensembl - ENSG00000042088
  
Related genetic diseases (OMIM): 607250 - Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250
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
 tdp1ENSDARG00000073866Danio rerio
 TDP1ENSGALG00000010669Gallus gallus
 Tdp1ENSMUSG00000021177Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR010347  Tyrosyl-DNA phosphodiesterase I
 IPR027415  Tyrosyl-DNA phosphodiesterase, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000012 single strand break repair IMP
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006302 double-strand break repair IDA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0090305 nucleic acid phosphodiester bond hydrolysis IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0003690 double-stranded DNA binding IDA
 molecular_functionGO:0003697 single-stranded DNA binding IDA
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0004527 exonuclease activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008081 phosphoric diester hydrolase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0017005 3"-tyrosyl-DNA phosphodiesterase activity IDA


Pathways (from Reactome)
Pathway description
Nonhomologous End-Joining (NHEJ)


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]
Show

 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
Show

 HP:0001761 Pes cavus 
Show

 HP:0003376 Steppage gait "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:curators]
Show

 HP:0003477 Axonal neuropathy 
Show

 HP:0003693 Distal amyotrophy "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr