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

Summary

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

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_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
TSHZ1 levels are reduced in human islets of donors with type 2 diabetes
Title: Tshz1 Regulates Pancreatic β-Cell Maturation.
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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102961 (e-PCR)
- UniSTS:97295

G19288 (e-PCR)
- UniSTS:18285

RH17560 (e-PCR)
- UniSTS:82150

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

NG_032047.1 RefSeqGene

Range

5043..84190

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)