TRPS1

TRPS1
Identifiers
AliasesTRPS1, GC79, LGCR, transcriptional repressor GATA binding 1
External IDsOMIM: 604386; MGI: 1927616; HomoloGene: 8556; GeneCards: TRPS1; OMA:TRPS1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

7227

83925

Ensembl

ENSG00000104447

ENSMUSG00000038679

UniProt

Q9UHF7

Q925H1

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 MbChr 15: 50.65 – 50.89 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104447 – Ensembl, May 2017
  2. ^ a b c 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/s004399900176. 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.

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