InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TSHZ1

Summary

InnateDB Protein

IDBP-5163.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TSHZ1

Protein Name

teashirt zinc finger homeobox 1

Synonyms

CAA; NY-CO-33; SDCCAG33; TSH1;

Species

Homo sapiens

Ensembl Protein

ENSP00000323584

InnateDB Gene

IDBG-5161 (TSHZ1)

Protein Structure

UniProt Annotation

Function

Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential). {ECO:0000305}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

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:0000269PubMed:22152683}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain; strongly reduced in post- mortem elderly subjects with Alzheimer disease. {ECO:0000269PubMed:19343227}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0009952	anterior/posterior pattern specification
GO:0010468	regulation of gene expression
GO:0042474	middle ear morphogenesis
GO:0060023	soft palate development