TSHZ1 Gene (Protein Coding)

Teashirt Zinc Finger Homeobox 1

GC18P075210
GIFtS:
41
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
  • TSH1 2 3 4
  • Teashirt Homolog 1 3 4
  • Antigen NY-CO-33 3 4
  • NY-CO-33 2 3
  • SDCCAG33 3 4
  • Teashirt Family Zinc Finger 1 2
  • Teashirt Zinc Finger 1 2
  • TSHZ1 5
  • 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 Pubs

Download GeneHancer 2017 data
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
GH18J075199 Promoter/Enhancer 3.1 UCNEbase EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 255.9 -0.2 -155 22.8 TBP ZBTB10 SP1 MXD4 FEZF1 CEBPA NR2C1 MNT IKZF1 SMAD5 ZADH2 TSHZ1 ZNF407 piR-55315
GH18J074540 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -668.3 -668344 4 MXD4 CEBPA HOMEZ KDM6A THAP11 FOXA2 ZNF511 SMAD4 SAP130 RXRA TSHZ1 ZNF407 CNDP1 FAUP1 DIPK1C piR-51137-054 ENSG00000264340
GH18J075245 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 12 +37.7 37704 6 IRF2 GABPA ZNF843 PRDM6 SPI1 POLR2A ZBTB48 NR2F1 REST GATA2 ZNF407 TSHZ1 ZADH2 HSALNG0122498 SMIM21
GH18J074316 Enhancer 1 Ensembl ENCODE 12.7 -893.6 -893591 1.7 CEBPA FOXA1 ZFP64 KDM6A CEBPB IRF3 FOXA2 MAFF SMAD4 SAP130 C18orf63 TSHZ1 CYB5A piR-59907-012 HSALNG0122433 DIPK1C
GH18J075267 Enhancer 0.7 UCNEbase 12 +57.6 57632 0.7 MAFF ZNF316 MAFK MAFG MEIS2 POLR2A EMSY TSHZ1 ZADH2 HSALNG0122498 SMIM21
- 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 the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr18:75,210,755-75,289,950
(GRCh38/hg38)
Size:
79,196 bases
Orientation:
Plus strand

Previous Assembly
chr18:72,922,752-73,001,899
(GRCh37/hg19 by Entrez Gene)
Size:
79,148 bases
Orientation:
Plus strand

chr18:72,922,710-73,001,905
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for TSHZ1 Gene

Proteins for TSHZ1 Gene

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  • 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

Protein Expression for TSHZ1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TSHZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TSHZ1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
ProtoNet:

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

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  3. miRNA products for research
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  6. Cell Lines for research

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 ISA --
GO:0003677 DNA binding IEA,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 Models for research

Inhibitory RNAs for research

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

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

Nucleus.

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
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TSHZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,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

GPS-Prot Interaction Network for TSHZ1

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

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  1. Drug products for research
No Compound Related Data Available

Transcripts for TSHZ1 Gene

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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 :

Inhibitory RNAs for research

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

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

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for TSHZ1 Gene
mRNA expression by BioGPS for TSHZ1 GenemRNA expression by GTEx 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)
  • Skin(2)

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

Primer products for research

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 30 31
  • 99.26 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TSHZ1 30 31
  • 85.96 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tshz1 30 17 31
  • 85.77 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tshz1 30
  • 85.4 (n)
Cow
(Bos Taurus)
 Mammalia TSHZ1 30 31
  • 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 30 31
  • 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 30 31
  • 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 (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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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
930291 Uncertain Significance: Aural atresia, congenital 75,287,534(+) C/G
NM_001308210.2(TSHZ1):c.2127C>G (p.Asp709Glu) 		MISSENSE
rs112669427 Likely Benign: not provided 75,285,910(+) C/T
NM_005786.6(TSHZ1):c.368C>T (p.Thr123Ile) 		MISSENSE
rs114642426 Benign: not provided 75,288,221(+) C/T
NM_005786.6(TSHZ1):c.2679C>T (p.Thr893=) 		SYNONYMOUS
rs369841992 Likely Benign: Aural atresia, congenital 75,211,133(+) G/GC
NM_005786.6(TSHZ1):c.-200dup 		FIVE_PRIME_UTR
rs372787732 Uncertain Significance: Aural atresia, congenital. Uncertain Significance: Aural atresia, congenital 75,210,896(+) A/AGA/AGG
NM_005786.6(TSHZ1):c.-432dup 		FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TSHZ1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for TSHZ1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for TSHZ1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
aural atresia, congenital
  • caa
external auditory canal aplasia/hypoplasia
  • external auditory canal stenosis/atresia
valproate embryopathy
  • valproate embryopathy, susceptibility to
chromosome 18q deletion syndrome
  • chromosome 18q- syndrome
vertical talus, congenital
  • cvt
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for TSHZ1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 74
  2. TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction. (PMID: 24487590) Ragancokova D … Garratt AN (The Journal of clinical investigation 2014) 3 74
  3. 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
  4. FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4. (PMID: 19343227) Kajiwara Y … Buxbaum JD (PloS one 2009) 3 4
  5. 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

ExternalLinks

View latest publications for TSHZ1 gene in Mastermind

Products for TSHZ1 Gene

  • Addgene plasmids for TSHZ1

Sources for TSHZ1 Gene