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zinc finger transcription factor Trps1; tricho-rhino-phalangeal syndrome type I protein; zinc finger protein GC79 (TRPS1)
Function:
- transcriptional repressor
- binds specifically to GATA sequences & represses expression of GATA-regulated genes at selected sites & stages in vertebrate development
- sumoylation in the repressor domain inhibits the transcriptional repression activity
- sumoylation on Lys-1201 is the major site
- appears to be sumoylated on multiple sites
- interacts with RNF4
- regulates TRPS1 repressor activity
Structure:
- contains 7 C2H2-type Zn+2 fingers
- contains 1 GATA-type Zn+2 finger
Compartment: nucleus
Alternative splicing: named isoforms=3
Expression:
- ubiquitously expressed in the adult
- found in fetal brain, lung, kidney, liver, spleen & thymus
- more highly expressed in androgen-dependent than in androgen-independent prostate cancer cells
Pathology:
- defects in TRPS1 are the cause of
a) tricho-rhino-phalangeal syndrome type 1
b) tricho-rhino-phalangeal syndrome type 3
- chromosomal aberration involving TRPS1 is a cause of tricho-rhino-phalangeal syndrome type 2
General
C2H2 type zinc finger protein
nuclear protein
phosphoprotein
Properties
SIZE: entity length = 1281 aa
MW = 142 kD
COMPARTMENT: cell nucleus
MOTIF: Ser phosphorylation site {S127}
Ser phosphorylation site {S157}
Ser phosphorylation site {S178}
Ser phosphorylation site {S184}
Zn finger C2H2-type
SITE: 222-247
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 333-358
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 614-637
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 666-689
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 692-715
EFFECTOR-BOUND: Zn+2
Ser phosphorylation site {S892}
Zn finger GATA-type
SITE: 896-920
EFFECTOR-BOUND: Zn+2
Ser phosphorylation site {S978}
Mediates interaction with RNF4 {985-1184}
MOTIF: Ser phosphorylation site {S1066}
Ser phosphorylation site {S1081}
Ser phosphorylation site {S1085}
Transcriptional repressor domain {1163-1281}
MOTIF: Zn finger C2H2-type
SITE: 1215-1237
EFFECTOR-BOUND: Zn+2
Zn finger C2H2-type
SITE: 1243-1267
EFFECTOR-BOUND: Zn+2
Database Correlations
OMIM correlations
MORBIDMAP 604386
UniProt Q9UHF7
Pfam PF00320
Entrez Gene 7227
Kegg hsa:7227
References
- UniProt :accession Q9UHF7
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TRPS1