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

Gene ID: 10194, updated on 4-Jan-2020

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
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

Genomic context

See TSHZ1 in Genome Data Viewer
Location:
18q22.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (75210797..75289950)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (72922710..73001905)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376874 Neighboring gene zinc binding alcohol dehydrogenase domain containing 2 Neighboring gene uncharacterized LOC105372200 Neighboring gene small integral membrane protein 21 Neighboring gene uncharacterized LOC107985177

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Aural atresia, congenital
MedGen: C1842937 OMIM: 607842 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic variants associated with disordered eating.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001308210.2NP_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
    Q6ZSZ6
    Related
    ENSP00000464391.1, ENST00000580243.2
    Conserved Domains (3) summary
    cd00086
    Location:886954
    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:248270
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam12756
    Location:9701060
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
  2. NM_005786.6NP_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:841909
    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:203225
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam12756
    Location:9251015
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    75210797..75289950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266641.3XP_005266698.1  teashirt homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_005266698.1

    UniProtKB/Swiss-Prot
    Q6ZSZ6
    Conserved Domains (3) summary
    cd00086
    Location:841909
    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:203225
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam12756
    Location:9251015
    zf-C2H2_2; C2H2 type zinc-finger (2 copies)
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