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Aliases for TSHZ1 Gene

Aliases for TSHZ1 Gene

  • Teashirt Zinc Finger Homeobox 1 2 3 5
  • Serologically Defined Colon Cancer Antigen 33 2 3 4
  • Antigen NY-CO-33 3 4
  • SDCCAG33 3 4
  • TSH1 3 4
  • Teashirt Family Zinc Finger 1 2
  • Teashirt Zinc Finger 1 2
  • Teashirt Homolog 1 3
  • NY-CO-33 3
  • CAA 3

External Ids for TSHZ1 Gene

Previous HGNC Symbols for TSHZ1 Gene

  • SDCCAG33

Previous GeneCards Identifiers for TSHZ1 Gene

  • GC18P071051
  • GC18P072922
  • GC18P069607

Summaries for TSHZ1 Gene

Entrez Gene Summary for TSHZ1 Gene

  • This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]

GeneCards Summary for TSHZ1 Gene

TSHZ1 (Teashirt Zinc Finger Homeobox 1) is a Protein Coding gene. Diseases associated with TSHZ1 include Aural Atresia, Congenital and External Auditory Canal Aplasia/Hypoplasia. An important paralog of this gene is TSHZ3.

UniProtKB/Swiss-Prot for TSHZ1 Gene

  • Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSHZ1 Gene

Genomics for TSHZ1 Gene

Regulatory Elements for TSHZ1 Gene

Enhancers for TSHZ1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G075267 1.7 Ensembl 12 +57.1 57127 0.6 PKNOX1 JUN MAFG EP300 ZNF316 MAFF GATA2 POLR2A PBX2 FOS TSHZ1 ZADH2 GC18M075233 ENSG00000276993
GH18G075199 2.9 FANTOM5 Ensembl ENCODE dbSUPER 6 +0.2 193 22.1 HDGF PKNOX1 FOXA2 ARNT WRNIP1 ARID4B SIN3A FEZF1 YY1 ZNF143 ZADH2 ZNF407 TSHZ1 GC18P075214
GH18G075245 1.3 Ensembl ENCODE dbSUPER 12 +37.7 37705 6.0 ZSCAN18 IRF2 ZSCAN4 YY1 ZFHX2 GLIS2 ZBTB48 EGR2 ZNF202 NR2F1 ZADH2 TSHZ1 GC18M075233 ENSG00000276993
GH18G075276 0.6 Ensembl ENCODE 11.4 +66.6 66581 2.1 ZNF266 TSHZ1 ZADH2 CNDP2 GC18M075233 ENSG00000276993
GH18G075280 0.5 ENCODE 11.6 +70.0 70024 0.8 GATA2 JUN FOS NR2F2 ZADH2 TSHZ1 GC18M075233 ENSG00000276993
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TSHZ1 on UCSC Golden Path with GeneCards custom track

Promoters for TSHZ1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000105055 -855 5401 PKNOX1 FOXA2 ARNT WRNIP1 ARID4B SIN3A FEZF1 YY1 ZNF143 ZNF207

Genomic Location for TSHZ1 Gene

Chromosome:
18
Start:
75,210,755 bp from pter
End:
75,289,950 bp from pter
Size:
79,196 bases
Orientation:
Plus strand

Genomic View for TSHZ1 Gene

Genes around TSHZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSHZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSHZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSHZ1 Gene

Proteins for TSHZ1 Gene

  • Protein details for TSHZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZSZ6-TSH1_HUMAN
    Recommended name:
    Teashirt homolog 1
    Protein Accession:
    Q6ZSZ6
    Secondary Accessions:
    • O60534
    • Q4LE29
    • Q53EU4

    Protein attributes for TSHZ1 Gene

    Size:
    1077 amino acids
    Molecular mass:
    117916 Da
    Quaternary structure:
    • Interacts (via homeobox domain) with APBB1 (via PID domain 1).
    SequenceCaution:
    • Sequence=AAC18047.1; Type=Frameshift; Positions=304, 1048; Evidence={ECO:0000305}; Sequence=BAE06124.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TSHZ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSHZ1 Gene

Post-translational modifications for TSHZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TSHZ1 Gene

No data available for DME Specific Peptides for TSHZ1 Gene

Domains & Families for TSHZ1 Gene

Protein Domains for TSHZ1 Gene

Suggested Antigen Peptide Sequences for TSHZ1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZSZ6

UniProtKB/Swiss-Prot:

TSH1_HUMAN :
  • Belongs to the teashirt C2H2-type zinc-finger protein family.
Family:
  • Belongs to the teashirt C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with TSHZ1: view

Function for TSHZ1 Gene

Molecular function for TSHZ1 Gene

UniProtKB/Swiss-Prot Function:
Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).

Gene Ontology (GO) - Molecular Function for TSHZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IBA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TSHZ1: view
genes like me logo Genes that share phenotypes with TSHZ1: view

Human Phenotype Ontology for TSHZ1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TSHZ1 Gene

MGI Knock Outs for TSHZ1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TSHZ1 Gene

Localization for TSHZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSHZ1 Gene

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 TSHZ1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TSHZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
genes like me logo Genes that share ontologies with TSHZ1: view

Pathways & Interactions for TSHZ1 Gene

SuperPathways for TSHZ1 Gene

No Data Available

Interacting Proteins for TSHZ1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000323584%0d%0a9606.ENSP00000366434%0d%0a9606.ENSP00000299402%0d%0a9606.ENSP00000215567%0d%0a
Selected Interacting proteins: Q6ZSZ6-TSH1_HUMAN ENSP00000323584 for TSHZ1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for TSHZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0007275 multicellular organism development IBA,IEA --
genes like me logo Genes that share ontologies with TSHZ1: view

No data available for Pathways by source and SIGNOR curated interactions for TSHZ1 Gene

Drugs & Compounds for TSHZ1 Gene

No Compound Related Data Available

Transcripts for TSHZ1 Gene

Unigene Clusters for TSHZ1 Gene

Teashirt zinc finger homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSHZ1 Gene

No ASD Table

Relevant External Links for TSHZ1 Gene

GeneLoc Exon Structure for
TSHZ1
ECgene alternative splicing isoforms for
TSHZ1

Expression for TSHZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSHZ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TSHZ1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TSHZ1 Gene



Protein tissue co-expression partners for TSHZ1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TSHZ1 Gene:

TSHZ1

SOURCE GeneReport for Unigene cluster for TSHZ1 Gene:

Hs.284217

mRNA Expression by UniProt/SwissProt for TSHZ1 Gene:

Q6ZSZ6-TSH1_HUMAN
Tissue specificity: Expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease.

Evidence on tissue expression from TISSUES for TSHZ1 Gene

  • Nervous system(4.6)
  • Kidney(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSHZ1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • head
  • inner ear
  • middle ear
  • olfactory bulb
  • outer ear
  • skull
genes like me logo Genes that share expression patterns with TSHZ1: view

Primer Products

No data available for mRNA differential expression in normal tissues for TSHZ1 Gene

Orthologs for TSHZ1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TSHZ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSHZ1 34 35
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia TSHZ1 34 35
  • 85.96 (n)
mouse
(Mus musculus)
Mammalia Tshz1 34 16 35
  • 85.77 (n)
rat
(Rattus norvegicus)
Mammalia Tshz1 34
  • 85.4 (n)
cow
(Bos Taurus)
Mammalia TSHZ1 34 35
  • 84.82 (n)
oppossum
(Monodelphis domestica)
Mammalia TSHZ1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSHZ1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSHZ1 34 35
  • 77.99 (n)
lizard
(Anolis carolinensis)
Reptilia TSHZ1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730769 34
  • 72.1 (n)
Str.14430 34
zebrafish
(Danio rerio)
Actinopterygii tshz1 34 35
  • 67.35 (n)
sdccag33 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5824 35
  • 12 (a)
OneToMany
Species where no ortholog for TSHZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TSHZ1 Gene

ENSEMBL:
Gene Tree for TSHZ1 (if available)
TreeFam:
Gene Tree for TSHZ1 (if available)

Paralogs for TSHZ1 Gene

Paralogs for TSHZ1 Gene

(2) SIMAP similar genes for TSHZ1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TSHZ1: view

Variants for TSHZ1 Gene

Sequence variations from dbSNP and Humsavar for TSHZ1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs730882069 Pathogenic 75,286,488(+) GGCGC(-/A)CCCCC reference, frameshift-variant
rs730882070 Pathogenic 75,286,265(+) AGGTG(A/G)TCCAA reference, stop-gained
rs111329836 Likely benign 75,286,946(+) GACGC(A/G/T)GAGAA reference, synonymous-codon
rs111787453 Likely benign 75,287,449(+) TTTCC(C/G/T)GAAAA reference, missense
rs112669427 Likely benign 75,285,910(+) CACCA(C/T)TGGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TSHZ1 Gene

Variant ID Type Subtype PubMed ID
esv3643133 CNV loss 21293372
nsv1071863 CNV deletion 25765185
nsv1121956 CNV deletion 24896259
nsv1143883 CNV deletion 24896259
nsv132006 CNV deletion 16902084
nsv132104 CNV deletion 16902084
nsv458299 CNV loss 19166990
nsv577657 CNV loss 21841781
nsv833695 CNV gain 17160897

Variation tolerance for TSHZ1 Gene

Residual Variation Intolerance Score: 4.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.89; 87.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TSHZ1 Gene

Human Gene Mutation Database (HGMD)
TSHZ1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSHZ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSHZ1 Gene

Disorders for TSHZ1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TSHZ1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
aural atresia, congenital
  • congenital aural atresia
external auditory canal aplasia/hypoplasia
  • external auditory canal stenosis/atresia
bile acid synthesis defect, congenital, 2
  • congenital bile acid synthesis defect 2
- elite association - COSMIC cancer census association via MalaCards
Search TSHZ1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TSH1_HUMAN
  • Aural atresia, congenital (CAA) [MIM:607842]: A rare anomaly of the ear that involves some degree of failure of the development of the external auditory canal. The malformation can also involve the tympanic membrane, ossicles and middle ear space. The inner ear development is most often normal. Different CAA forms are known. CAA type I is characterized by bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity. {ECO:0000269 PubMed:22152683}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TSHZ1

Genetic Association Database (GAD)
TSHZ1
Human Genome Epidemiology (HuGE) Navigator
TSHZ1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TSHZ1
genes like me logo Genes that share disorders with TSHZ1: view

No data available for Genatlas for TSHZ1 Gene

Publications for TSHZ1 Gene

  1. Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. (PMID: 22152683) Feenstra I. … Cremers C.W. (Am. J. Hum. Genet. 2011) 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4. (PMID: 19343227) Kajiwara Y. … Buxbaum J.D. (PLoS ONE 2009) 3 4 64
  4. Tshz1 is required for axial skeleton, soft palate and middle ear development in mice. (PMID: 17586487) CorAc N. … Fasano L. (Dev. Biol. 2007) 2 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TSHZ1 Gene

Sources for TSHZ1 Gene

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