TRPS1

TRPS1
Identifiers
Aliases	TRPS1, GC79, LGCR, transcriptional repressor GATA binding 1
External IDs	MGI: 1927616 HomoloGene: 8556 GeneCards: TRPS1
Genetically Related Diseases
major depressive disorder
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • RNA polymerase II regulatory region sequence-specific DNA binding • RNA polymerase II transcription factor binding • transcription factor activity, sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding • zinc ion binding • chromatin binding • metal ion binding • protein binding Cellular component • transcription factor complex • nucleoplasm • nucleus • nuclear chromatin Biological process • skeletal system development • regulation of transcription, DNA-templated • negative regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • transcription, DNA-templated • NLS-bearing protein import into nucleus • regulation of chondrocyte differentiation • positive regulation of transcription from RNA polymerase II promoter • cell differentiation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
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 Mb	Chr 15: 50.65 – 50.89 Mb
PubMed search

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

Zinc finger transcription factor Trps1 is a protein that in humans is encoded by the TRPS1 gene.

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).

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Wikipedia