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Aliases for TSHZ1 Gene

Aliases for TSHZ1 Gene

  • Teashirt Zinc Finger Homeobox 1 2 3
  • Serologically Defined Colon Cancer Antigen 33 2 3 4
  • TSH1 3 4 6
  • Antigen NY-CO-33 3 4
  • SDCCAG33 3 4
  • CAA 3 6
  • Teashirt Family Zinc Finger 1 2
  • Teashirt Zinc Finger 1 2
  • Teashirt Homolog 1 3
  • NY-CO-33 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. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is TSHZ2.

UniProtKB/Swiss-Prot for TSHZ1 Gene

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

No data available for 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

Genomic Location for TSHZ1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for TSHZ1 Gene at MOPED

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 for TSHZ1 Gene

Gene Families for TSHZ1 Gene

HGNC:
  • TSHZ :Teashirt zinc fingers
  • ZNF :Zinc fingers, C2H2-type
  • ZFHX :Homeoboxes / ZF class

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 :
  • Q6ZSZ6
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the teashirt C2H2-type zinc-finger protein family.
Similarity:
  • Contains 5 C2H2-type zinc fingers.
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:0003677 DNA binding IEA --
GO:0005515 protein binding --
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

Animal Models for TSHZ1 Gene

MGI Knock Outs for TSHZ1:

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

Localization for TSHZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSHZ1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TSHZ1 Gene COMPARTMENTS Subcellular localization image for TSHZ1 gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for TSHZ1 Gene

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

Pathways for TSHZ1 Gene

SuperPathways for TSHZ1 Gene

No Data Available

Interacting Proteins for TSHZ1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000323584%0d%0a9606.ENSP00000299402%0d%0a
Selected Interacting proteins: ENSP00000323584 Q6ZSZ6-TSH1_HUMAN for TSHZ1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TSHZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0009952 anterior/posterior pattern specification IEA --
GO:0010468 regulation of gene expression --
GO:0042474 middle ear morphogenesis IEA --
genes like me logo Genes that share ontologies with TSHZ1: view

No data available for Pathways by source for TSHZ1 Gene

Transcripts for TSHZ1 Gene

Unigene Clusters for TSHZ1 Gene

Teashirt zinc finger homeobox 1:
Representative Sequences:

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 for TSHZ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for TSHZ1 Gene

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.
genes like me logo Genes that share expressions 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 35
  • 99.26 (n)
  • 99.52 (a)
TSHZ1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TSHZ1 35
  • 84.82 (n)
  • 88.32 (a)
TSHZ1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TSHZ1 35
  • 85.96 (n)
  • 90.16 (a)
TSHZ1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tshz1 35
  • 85.77 (n)
  • 92.73 (a)
Tshz1 16
Tshz1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TSHZ1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSHZ1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tshz1 35
  • 85.4 (n)
  • 92.25 (a)
chicken
(Gallus gallus)
Aves TSHZ1 35
  • 77.99 (n)
  • 88.06 (a)
TSHZ1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSHZ1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730769 35
  • 72.1 (n)
  • 82.15 (a)
Str.14430 35
zebrafish
(Danio rerio)
Actinopterygii sdccag33 35
tshz1 35
  • 67.35 (n)
  • 70.42 (a)
tshz1 36
  • 60 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5824 36
  • 12 (a)
OneToMany
Species with no ortholog for TSHZ1:
  • 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

Selected 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 MAF
rs766485 -- 75,266,073(+) AGACC(A/G)CAGAG intron-variant
rs766486 -- 75,265,906(+) TACAC(C/T)GTCTT intron-variant
rs766487 -- 75,266,018(+) ATTGT(A/G)TTACT intron-variant
rs960551 -- 75,225,158(-) CTTCC(A/G)CGTCC intron-variant
rs960552 -- 75,225,005(-) CTTTT(C/G/T)TAAGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833695 CNV Gain 17160897
nsv909924 CNV Gain 21882294
nsv132104 CNV Loss 16902084
nsv132006 CNV Loss 16902084
nsv458299 CNV Loss 19166990

Relevant External Links for TSHZ1 Gene

HapMap Linkage Disequilibrium report
TSHZ1
Human Gene Mutation Database (HGMD)
TSHZ1

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

Disorders for TSHZ1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for TSHZ1 Gene including...

Search for TSHZ1 Gene in MalaCards »

(1) OMIM Diseases for TSHZ1 Gene (614427)

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

Publications for TSHZ1 Gene

  1. Characterization of human colon cancer antigens recognized by autologous antibodies. (PMID: 9610721) Scanlan M.J. … Old L.J. (Int. J. Cancer 1998) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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
  4. 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
  5. FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4. (PMID: 19343227) Kajiwara Y. … Buxbaum J.D. (PLoS ONE 2009) 3 4

Products for TSHZ1 Gene

Sources for TSHZ1 Gene

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