TSHZ3

TSHZ3
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2DMI
Identifiers
Aliases	TSHZ3, TSH3, ZNF537, teashirt zinc finger homeobox 3
External IDs	OMIM: 614119 MGI: 2442819 HomoloGene: 10835 GeneCards: TSHZ3
Gene location (Human)
Chr.	Chromosome 19 (human)[1]
End	31,349,436 bp[1]
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)[2]
End	36,773,553 bp[2]
Gene ontology
Molecular function	• metal ion binding; • DNA binding; • chromatin binding; • GO:0001948 protein binding; • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific; • nucleic acid binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	• cell projection; • growth cone; • cell nucleus; • nucleoplasm;
Biological process	• regulation of gene expression; • regulation of transcription, DNA-templated; • transcription, DNA-templated; • regulation of respiratory gaseous exchange by neurological system process; • negative regulation of transcription, DNA-templated; • multicellular organism development; • regulation of transcription from RNA polymerase II promoter; • negative regulation of transcription from RNA polymerase II promoter; • positive regulation of synaptic transmission, glutamatergic; • long-term synaptic potentiation;
	Sources:Amigo / QuickGO
Orthologs
	57616
	243931
	ENSG00000121297
	ENSMUSG00000021217
	Q63HK5
	Q8CGV9
	NM_020856
	NM_172298
	NP_065907
	NP_758502
	Wikidata
View/Edit Human	View/Edit Mouse

Teashirt homolog 3 is a protein that in humans is encoded by the TSHZ3 gene.[5] In mice, it is a necessary part of the neural circuitry that controls breathing. The gene is also a homolog of the Drosophila melanogaster teashirt gene, which encodes a zinc finger transcription factor important for development of the trunk.

Tshz3-knockout mice do not develop the respiratory rhythm generator (RRG) neural circuit, which is a pacemaker that produces an oscillating rhythm in the brainstem and controls autonomous breathing. The RRG neurons are present, but are abnormal. Those mice do not survive because they don't initiate breathing after birth. Tshz3 is being studied for its relationship to infant breathing defects in humans.[6]

TSHZ3 has been identified as a critical region for a syndrome associated with heterozygous deletions at 19q12-q13.11, which includes autism spectrum disorder (ASD) symptoms such autistic traits, speech disturbance and intellectual disability, as well as renal tract abnormalities. Mice with heterozygous Tshz3 deletion (Tshz3^lacZ^/+) show enrichment of ASD-related gene orthologs in the cerebral cortex, functional alterations of corticostriatal circuitry and ASD-relevant behavioral abnormalities. [7]

References

GRCh38: Ensembl release 89: ENSG00000121297 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000021217 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: TSHZ3 teashirt family zinc finger 3".
Caubit X, Thoby-Brisson M, Voituron N, Filippi P, Bévengut M, Faralli H, Zanella S, Fortin G, Hilaire G, Fasano L (July 2010). "Teashirt 3 regulates development of neurons involved in both respiratory rhythm and airflow control". J. Neurosci. 30 (28): 9465–76. doi:10.1523/JNEUROSCI.1765-10.2010. PMC 6632443. PMID 20631175. Lay summary – New Scientist.
Caubit X, Gubellini P, Andrieux J, Roubertoux PL, Metwaly M, Jacq B, Fatmi A, Had-Aissouni L, Kwan KY, Salin P, Carlier M, Liedén A, Rudd E, Shinawi M, Vincent-Delorme C, Cuisset JM, Lemaitre MP, Abderrehamane F, Duban B, Lemaitre JF, Woolf AS, Bockenhauer D, Severac D, Dubois E, Zhu Y, Sestan N, Garratt AN, Kerkerian-Le Goff L, Fasano L (November 2016). "TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons". Nat. Genet. 48 (11): 1359–69. doi:10.1038/ng.3681. PMC 5083212. PMID 27668656.

External links

Overview of all the structural information available in the PDB for UniProt: Q63HK5 (Teashirt homolog 3) at the PDBe-KB.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000121297 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021217 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: TSHZ3 teashirt family zinc finger 3".

[pmid20631175-6] Caubit X, Thoby-Brisson M, Voituron N, Filippi P, Bévengut M, Faralli H, Zanella S, Fortin G, Hilaire G, Fasano L (July 2010). "Teashirt 3 regulates development of neurons involved in both respiratory rhythm and airflow control". J. Neurosci. 30 (28): 9465–76. doi:10.1523/JNEUROSCI.1765-10.2010. PMC 6632443. PMID 20631175. Lay summary – New Scientist.

[pmid27668656-7] Caubit X, Gubellini P, Andrieux J, Roubertoux PL, Metwaly M, Jacq B, Fatmi A, Had-Aissouni L, Kwan KY, Salin P, Carlier M, Liedén A, Rudd E, Shinawi M, Vincent-Delorme C, Cuisset JM, Lemaitre MP, Abderrehamane F, Duban B, Lemaitre JF, Woolf AS, Bockenhauer D, Severac D, Dubois E, Zhu Y, Sestan N, Garratt AN, Kerkerian-Le Goff L, Fasano L (November 2016). "TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons". Nat. Genet. 48 (11): 1359–69. doi:10.1038/ng.3681. PMC 5083212. PMID 27668656.

TSHZ3

References

Further reading

External links