Tricho-rhino-phalangeal syndrome Type 1

Last updated
TRPS1
Identifiers
Aliases TRPS1 , GC79, LGCR, transcriptional repressor GATA binding 1
External IDs OMIM: 604386 MGI: 1927616 HomoloGene: 8556 GeneCards: TRPS1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001282902
NM_001282903
NM_014112
NM_001330599

NM_032000
NM_001310481
NM_001310485

RefSeq (protein)

NP_001269831
NP_001269832
NP_001317528
NP_054831

n/a

Location (UCSC) Chr 8: 115.41 – 115.81 Mb Chr 15: 50.65 – 50.89 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

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

<span class="mw-page-title-main">Langer–Giedion syndrome</span> Medical condition

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.

<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 145 million base pairs and represents between 4.5 and 5.0% of the total DNA in cells.

<span class="mw-page-title-main">JunD</span> Protein-coding gene in the species Homo sapiens

Transcription factor JunD is a protein that in humans is encoded by the JUND gene.

<span class="mw-page-title-main">GATA2</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">EXT1</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">GATA6</span> Protein-coding gene in the species Homo sapiens

Transcription factor GATA-6, also known as GATA-binding factor 6 (GATA6), is protein that in humans is encoded by the GATA6 gene. The gene product preferentially binds (A/T/C)GAT(A/T)(A) of the consensus binding sequence.

<span class="mw-page-title-main">SON (gene)</span> Protein-coding gene in the species Homo sapiens

SON protein is a protein that in humans is encoded by the SON gene.

<i>TBX5</i> (gene) Protein-coding gene in the species Homo sapiens

T-box transcription factor TBX5, is a protein that in humans is encoded by the TBX5 gene.

<span class="mw-page-title-main">ZNF148</span> Gene of the species Homo sapiens

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

<span class="mw-page-title-main">BACH1</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">DLX3</span> Mammalian protein found in Homo sapiens

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

<span class="mw-page-title-main">RNF4</span>

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

<span class="mw-page-title-main">ZNF10</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">ZBTB32</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">ZNF34</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">PRKY</span> Pseudogene in the species Homo sapiens

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

<span class="mw-page-title-main">DNAH11</span> Protein-coding gene in the species Homo sapiens

Dynein heavy chain 11, axonemal is a protein that in humans is encoded by the DNAH11 gene.

Tricho–rhino–phalangeal syndrome type 2 is a genetic disorder consisting of fine and sparse scalp hair, thin nails, pear-shaped broad nose, and cone-shaped epiphyses of the middle phalanges of some fingers and toes.

<span class="mw-page-title-main">FAM83A</span> Protein-coding gene in the species Homo sapiens

Protein FAM83A also known as tumor antigen BJ-TSA-9 is a protein that in humans is encoded by the FAM83A gene.

<span class="mw-page-title-main">MXD3</span> Protein-coding gene in the species Homo sapiens

MAX dimerization protein 3 is a protein that in humans is encoded by the MXD3 gene located on Chromosome 5.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000104447 - Ensembl, May 2017
  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.
  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.
  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.
  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/s004390051154. PMID   10647898.
  8. "Entrez Gene: Trichorhinophalangeal syndrome I".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.