ENSG00000179981


Homo sapiens

Features
Gene ID: ENSG00000179981
  
Biological name :TSHZ1
  
Synonyms : Q6ZSZ6 / teashirt zinc finger homeobox 1 / TSHZ1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: q22.3
Gene start: 75210755
Gene end: 75289950
  
Corresponding Affymetrix probe sets: 223282_at (Human Genome U133 Plus 2.0 Array)   223283_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000323584
Ensembl peptide - ENSP00000452718
Ensembl peptide - ENSP00000453834
Ensembl peptide - ENSP00000464391
NCBI entrez gene - 10194     See in Manteia.
OMIM - 614427
RefSeq - XM_005266641
RefSeq - NM_001308210
RefSeq - NM_005786
RefSeq Peptide - NP_001295139
RefSeq Peptide - NP_005777
swissprot - H0YKA1
swissprot - H0YN23
swissprot - Q6ZSZ6
Ensembl - ENSG00000179981
  
Related genetic diseases (OMIM): 607842 - Aural atresia, congenital, 607842

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
 tshz1ENSDARG00000005026Danio rerio
 TSHZ1ENSGALG00000013672Gallus gallus
 Tshz1ENSMUSG00000046982Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TSHZ3 / Q63HK5 / teashirt zinc finger homeobox 3ENSG0000012129756
TSHZ2 / Q9NRE2 / teashirt zinc finger homeobox 2ENSG0000018246349


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR013087  Zinc finger C2H2-type
 IPR026808  Teashirt homologue 1
 IPR027008  Teashirt family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IBA
 biological_processGO:0007275 multicellular organism development IBA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0042474 middle ear morphogenesis IEA
 biological_processGO:0060023 soft palate development IEA
 cellular_componentGO:0005634 nucleus IBA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IBA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IBA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000405 Hearing loss, conductive 
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 HP:0000413 External auditory canal atresia "Absence or failure to form of the external auditory canal." [HPO:curators]
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 HP:0004409 Hyposmia "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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