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TSHZ1 teashirt zinc finger homeobox 1 [ Homo sapiens (human) ]

Gene ID: 10194, updated on 5-Mar-2024

Summary

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Official Symbol
TSHZ1provided by HGNC
Official Full Name
teashirt zinc finger homeobox 1provided by HGNC
Primary source
HGNC:HGNC:10669
See related
Ensembl:ENSG00000179981 MIM:614427; AllianceGenome:HGNC:10669
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAA; TSH1; NY-CO-33; SDCCAG33
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 18.5), placenta (RPKM 15.6) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
18q22.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (75210797..75289944)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (75440190..75519327)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (72922752..73001899)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904326 Neighboring gene uncharacterized LOC105376874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72882003-72882504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72882505-72883004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:72916583-72917576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:72920599-72921529 Neighboring gene Sharpr-MPRA regulatory region 3936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9549 Neighboring gene prostaglandin reductase 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:72947291-72948490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72985503-72986004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72986005-72986504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72990985-72991486 Neighboring gene Sharpr-MPRA regulatory region 9768 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:73061340-73062286 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:73062287-73063231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:73072069-73072610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:73072611-73073151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:73090414-73090914 Neighboring gene uncharacterized LOC105372200 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:73120415-73121614 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:73141751-73142950 Neighboring gene uncharacterized LOC124900405 Neighboring gene small integral membrane protein 21 Neighboring gene uncharacterized LOC107985177

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. Feenstra I, et al. Am J Hum Genet, 2011 Dec 9. PMID 22152683, Free PMC Article
  2. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Cheng TH, et al. Sci Rep, 2015 Dec 1. PMID 26621817, Free PMC Article
  3. Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma. Schick B, et al. Int J Oncol, 2011 Nov. PMID 21874228
  4. FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4. Kajiwara Y, et al. PLoS One, 2009. PMID 19343227, Free PMC Article
  5. Tshz1 is required for axial skeleton, soft palate and middle ear development in mice. Coré N, et al. Dev Biol, 2007 Aug 15. PMID 17586487

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
    Title: Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
  2. TSHZ1 levels are reduced in human islets of donors with type 2 diabetes
    Title: Tshz1 Regulates Pancreatic β-Cell Maturation.
  3. TSHZ1 is a key regulator of mammalian olfactory bulb development and function and controls the expression of PROKR2.
    Title: TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction.
  4. Together, these results demonstrate that hemizygosity of TSHZ1 leads to congenital aural atresia as a result of haploinsufficiency
    Title: Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.
  5. a significant up-regulation of BORIS (p<0.001) and TSHZ1 transcripts (p<0.05) for JAs compared to nasal mucosa.
    Title: Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma.
  6. This publication characterizes the mouse ortholog of the human teashirt zinc finger homeobox 1 gene and proposes that the human gene may be a candidate gene for CAA syndrome.
    Title: Tshz1 is required for axial skeleton, soft palate and middle ear development in mice.
  7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Aural atresia, congenital
MedGen: C1842937 OMIM: 607842 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genetic variants associated with disordered eating.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
  
involved_in middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in soft palate development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
teashirt homolog 1
Names
antigen NY-CO-33
serologically defined colon cancer antigen 33

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032047.1 RefSeqGene

    Range
    5043..84190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308210.2 → NP_001295139.1  teashirt homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_001295139.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC025105
    Consensus CDS
    CCDS77199.1
    UniProtKB/Swiss-Prot
    O60534, Q4LE29, Q53EU4, Q6ZSZ6
    Related
    ENSP00000464391.1, ENST00000580243.3
    Conserved Domains (3) summary
    cd00086
    Location:886 → 954
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    sd00020
    Location:248 → 270
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam12756
    Location:970 → 1060
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)

  2. NM_005786.6 → NP_005777.3  teashirt homolog 1 isoform 2

    See identical proteins and their annotated locations for NP_005777.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AB210042, AI041446, AL833321, BC024152, DB284179
    Consensus CDS
    CCDS12009.1
    UniProtKB/Swiss-Prot
    Q6ZSZ6
    UniProtKB/TrEMBL
    A7YF73
    Related
    ENSP00000323584.5, ENST00000322038.5
    Conserved Domains (3) summary
    cd00086
    Location:841 → 909
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    sd00020
    Location:203 → 225
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam12756
    Location:925 → 1015
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    75210797..75289944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    75440190..75519327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZSZ6.2 GenPept UniProtKB/Swiss-Prot:Q6ZSZ6

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