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... See more...

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
  • Teashirt Homolog 1 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
  • 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 Summary for TSHZ1 Gene

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

Additional gene information for TSHZ1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSHZ1 Gene

Genomics for TSHZ1 Gene

GeneHancer (GH) Regulatory Elements for TSHZ1 Gene

Promoters and enhancers for TSHZ1 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
GH18J075198 Promoter/Enhancer 3.1 UCNEbase EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 505.9 -0.9 -855 24.2 ZBTB40 EP300 SIN3A NRF1 POLR2G SP1 GTF2E2 PHF8 ZFX ZNF639 ZADH2 TSHZ1 ZNF407 piR-55315
GH18J075245 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 12 +37.7 37704 6 ZNF423 ZSCAN18 GABPA IRF1 SPI1 IRF2 ZFHX2 OVOL3 ZBTB48 ZNF335 TSHZ1 ZADH2 HSALNG0122498
GH18J075237 Enhancer 0.8 Ensembl dbSUPER 12.1 +27.8 27846 1.6 ZNF623 ZBTB11 ZNF426 ZNF213 ZFP64 ZNF34 ZNF781 ZNF518A ZNF555 ZNF202 ZNF407 ZADH2 TSHZ1 HSALNG0122498
GH18J075267 Enhancer 0.7 UCNEbase 12 +57.6 57632 0.7 EP300 ZNF316 MAFF POLR2A MAFK PBX2 FOS MAFG GATA2 MEIS2 TSHZ1 ZADH2 HSALNG0122498
GH18J075276 Enhancer 0.7 Ensembl ENCODE 11.6 +68.3 68345 5.8 ZNF266 ZNF263 NR2F2 FOS GATA2 JUN POLR2A ZNF407 TSHZ1 ZADH2 CNDP2 HSALNG0122498
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSHZ1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSHZ1

Top Transcription factor binding sites by QIAGEN in the TSHZ1 gene promoter:
  • FOXD3
  • GATA-1
  • GATA-2
  • GATA-3
  • GR
  • GR-alpha
  • GR-beta
  • LCR-F1
  • RSRFC4
  • Sox5

Genomic Locations for TSHZ1 Gene

Genomic Locations for TSHZ1 Gene
chr18:75,210,755-75,289,950
(GRCh38/hg38)
Size:
79,196 bases
Orientation:
Plus strand
chr18:72,922,710-73,001,905
(GRCh37/hg19)
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; Evidence={ECO:0000305}; Sequence=BAE06124.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Gene Families for TSHZ1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TSHZ1 Gene

Suggested Antigen Peptide Sequences for TSHZ1 Gene

GenScript: Design optimal peptide antigens:
  • TSHZ1 protein (A7YF73_HUMAN)
  • Serologically defined colon cancer antigen 33 (TSH1_HUMAN)

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).

Phenotypes From GWAS Catalog for TSHZ1 Gene

Gene Ontology (GO) - Molecular Function for TSHZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSHZ1

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 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TSHZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with TSHZ1: view

Pathways & Interactions for TSHZ1 Gene

PathCards logo

SuperPathways for TSHZ1 Gene

No Data Available

Interacting Proteins for TSHZ1 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000323584 Q6ZSZ6-TSH1_HUMAN for TSHZ1 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for TSHZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0009952 anterior/posterior pattern specification IEA --
GO:0010468 regulation of gene expression IEA --
GO:0042474 middle ear morphogenesis 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

mRNA/cDNA for TSHZ1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSHZ1

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

Expression for TSHZ1 Gene

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



Protein tissue co-expression partners for TSHZ1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TSHZ1 31 30
  • 85.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tshz1 17 31 30
  • 85.77 (n)
rat
(Rattus norvegicus)
Mammalia Tshz1 30
  • 85.4 (n)
cow
(Bos Taurus)
Mammalia TSHZ1 31 30
  • 84.82 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TSHZ1 31
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSHZ1 31
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSHZ1 31 30
  • 77.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSHZ1 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730769 30
  • 72.1 (n)
Str.14430 30
zebrafish
(Danio rerio)
Actinopterygii tshz1 31 30
  • 67.35 (n)
OneToOne
sdccag33 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5824 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TSHZ1: view image

Paralogs for TSHZ1 Gene

Paralogs for TSHZ1 Gene

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

  • TSH1_HUMAN
  • A7YF73_HUMAN
  • H0YKA1_HUMAN
  • H0YN23_HUMAN
genes like me logo Genes that share paralogs with TSHZ1: view

Variants for TSHZ1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSHZ1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs111329836 Likely Benign: Aural atresia, congenital 75,286,946(+) G/T SYNONYMOUS_VARIANT
rs111787453 Likely Benign: Aural atresia, congenital 75,287,449(+) C/T MISSENSE_VARIANT
rs112669427 Likely Benign: Aural atresia, congenital; not provided 75,285,910(+) C/T MISSENSE_VARIANT
rs113033195 Likely Benign: Aural atresia, congenital 75,287,608(+) T/C MISSENSE_VARIANT
rs118011606 Likely Benign: Aural atresia, congenital 75,288,548(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TSHZ1 Gene

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)

Additional Variant Information for TSHZ1 Gene

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

SNP Genotyping and Copy Number Assay Products

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, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aural atresia, congenital
  • caa
external auditory canal aplasia/hypoplasia
  • external auditory canal stenosis/atresia
chromosome 18q deletion syndrome
  • chromosome 18q- syndrome
- 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.

Additional Disease Information for TSHZ1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 CW (American journal of human genetics 2011) 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4. (PMID: 19343227) Kajiwara Y … Buxbaum JD (PloS one 2009) 3 4 54
  4. Tshz1 is required for axial skeleton, soft palate and middle ear development in mice. (PMID: 17586487) Coré N … Fasano L (Developmental biology 2007) 2 3 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for TSHZ1 Gene

Sources for TSHZ1 Gene