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

    Gene ID: 10194, updated on 28-Oct-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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    See TSHZ1 in Genome Data Viewer
    Location:
    18q22.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (75210797..75289944)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (75440190..75519327)
    RS_2024_09 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 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. 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
    3. 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
    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 (26) 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
    		Compare labs

    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
    located_in 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_2024_08

    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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