Tricho-rhino-phalangeal syndrome Type 1

TRPS1
Identifiers
Aliases	TRPS1 , GC79, LGCR, transcriptional repressor GATA binding 1
External IDs	OMIM: 604386; MGI: 1927616; HomoloGene: 8556; GeneCards: TRPS1; OMA:TRPS1 - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	115,809,673 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	50,890,463 bp
RNA expression pattern
	Top expressed in
	lactiferous duct; ; Achilles tendon; ; tendon of biceps brachii; ; hair follicle; ; tibia; ; cartilage tissue; ; synovial joint; ; dorsal motor nucleus of vagus nerve; ; gingival epithelium; ; nipple;
	Top expressed in
	upper lip; ; hand; ; maxillary prominence; ; foot; ; vas deferens; ; zygote; ; Rostral migratory stream; ; secondary oocyte; ; aortic valve; ; calvaria;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding ; sequence-specific DNA binding ; DNA-binding transcription factor activity ; DNA-binding transcription activator activity, RNA polymerase II-specific ; zinc ion binding ; chromatin binding ; metal ion binding ; protein binding ; nucleic acid binding ; protein domain specific binding ; RNA polymerase II transcription regulatory region sequence-specific DNA binding ; DNA-binding transcription repressor activity, RNA polymerase II-specific ; DNA-binding transcription factor activity, RNA polymerase II-specific ;
Cellular component	transcription regulator complex ; nucleoplasm ; nucleus ; protein-containing complex ;
Biological process	skeletal system development ; regulation of transcription, DNA-templated ; negative regulation of transcription by RNA polymerase II ; transcription by RNA polymerase II ; transcription, DNA-templated ; NLS-bearing protein import into nucleus ; regulation of chondrocyte differentiation ; positive regulation of transcription by RNA polymerase II ; cell differentiation ; protein heterooligomerization ;
	Sources:Amigo / QuickGO
Orthologs
	7227
	83925
	ENSG00000104447
	ENSMUSG00000038679
	Q9UHF7
	Q925H1
	NM_001282902 ; NM_001282903 ; NM_014112 ; NM_001330599
	NM_032000 ; NM_001310481 ; NM_001310485
	NP_001269831 ; NP_001269832 ; NP_001317528 ; NP_054831
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated July 26, 2024

Zinc finger transcription factor Trps1 is a protein that in humans is encoded by the TRPS1 gene.^[5]^[6]^[7]

This gene encodes a GATA-like transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho–rhino–phalangeal syndrome (TRPS) types I–III (also known as the Langer–Giedion syndrome).^[8]

Related Research Articles

Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood.

Trisomy 8 causes Warkany syndrome 2, a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8. It can appear with or without mosaicism.

<span class="mw-page-title-main">Chromosome 8</span> Human chromosome

Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 146 million base pairs and represents between 4.5 and 5.0% of the total DNA in cells.

The GATA transcription factor family consists of six DNA-binding proteins (GATA1-6) that regulates transcription of DNA due to their ability to bind to the DNA sequence "GATA" which can therefore affect different diseases.

GATA2 or GATA-binding factor 2 is a transcription factor, i.e. a nuclear protein which regulates the expression of genes. It regulates many genes that are critical for the embryonic development, self-renewal, maintenance, and functionality of blood-forming, lympathic system-forming, and other tissue-forming stem cells. GATA2 is encoded by the GATA2 gene, a gene which often suffers germline and somatic mutations which lead to a wide range of familial and sporadic diseases, respectively. The gene and its product are targets for the treatment of these diseases.

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.

Zinc finger protein 148 is a protein that in humans is encoded by the ZNF148 gene.

Transcription regulator protein BACH1 is a protein that in humans is encoded by the BACH1 gene.

Homeobox protein DLX-3 is a protein that in humans is encoded by the DLX3 gene.

RING finger protein 4 is a protein that in humans is encoded by the RNF4 gene.

Zinc finger protein 74 is a protein that in humans is encoded by the ZNF74 gene. Schizophrenia susceptibility has been associated with a mutation in this protein.

Zinc finger protein 10 is a protein that in humans is encoded by the ZNF10 gene.

Zinc finger and BTB domain-containing protein 32 is a protein that in humans is encoded by the 1960 bp ZBTB32 gene. The 52 kDa protein is a transcriptional repressor and the gene is expressed in T and B cells upon activation, but also significantly in testis cells. It is a member of the Poxviruses and Zinc-finger (POZ) and Krüppel (POK) family of proteins, and was identified in multiple screens involving either immune cell tumorigenesis or immune cell development.

Zinc finger protein Gfi-1b is a protein that in humans is encoded by the GFI1B gene.

Zinc finger protein 19 is a protein that in humans is encoded by the ZNF19 gene.

Zinc finger protein 41 is a protein that in humans is encoded by the ZNF41 gene.

Zinc finger protein 34 is a protein that in humans is encoded by the ZNF34 gene.

B-cell CLL/lymphoma 6 member B protein is a protein that in humans is encoded by the BCL6B gene.

Serine/threonine-protein kinase PRKY is an enzyme that in humans is encoded by the PRKY gene.

Early growth response protein 4 (EGR-4), also known as AT133, is a protein that in humans is encoded by the EGR4 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000104447 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038679 – 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.
↑ Hou J, Parrish J, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF (Sep 1995). "A 4-megabase YAC contig that spans the Langer–Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)". Genomics. 29 (1): 87–97. doi:10.1006/geno.1995.1218. PMID 8530105.
↑ Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ (Jan 2000). "Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I". Nature Genetics. 24 (1): 71–4. doi:10.1038/71717. PMID 10615131. S2CID 21447066.
↑ Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B (Dec 1999). "Genes and chromosomal breakpoints in the Langer–Giedion syndrome region on human chromosome 8". Human Genetics. 105 (6): 619–28. doi:10.1007/s004399900176. PMID 10647898.
↑ "Entrez Gene: Trichorhinophalangeal syndrome I".

External links

TRPS1 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000104447 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038679 – 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.

[pmid8530105-5] Hou J, Parrish J, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF (Sep 1995). "A 4-megabase YAC contig that spans the Langer–Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)". Genomics. 29 (1): 87–97. doi:10.1006/geno.1995.1218. PMID 8530105.

[pmid10615131-6] Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ (Jan 2000). "Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I". Nature Genetics. 24 (1): 71–4. doi:10.1038/71717. PMID 10615131. S2CID 21447066.

[pmid10647898-7] Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B (Dec 1999). "Genes and chromosomal breakpoints in the Langer–Giedion syndrome region on human chromosome 8". Human Genetics. 105 (6): 619–28. doi:10.1007/s004399900176. PMID 10647898.

[entrez-8] "Entrez Gene: Trichorhinophalangeal syndrome I".

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Tricho-rhino-phalangeal syndrome Type 1

Contents

Related Research Articles

References

Further reading

External links