Human Gene TRPS1 (ENST00000519076.5) Description and Page Index
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt E5RFF3)
RefSeq Summary (NM_001282902): This gene encodes a 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. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000519076.5
Gencode Gene: ENSG00000104447.12
Transcript (Including UTRs)
   Position: hg38 chr8:115,413,814-115,620,070 Size: 206,257 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr8:115,414,023-115,620,058 Size: 206,036 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:115,413,814-115,620,070)mRNA (may differ from genome)Protein (1035 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=Zinc finger transcription factor Trps1;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: TRPS1
Diseases sorted by gene-association score: trichorhinophalangeal syndrome, type i* (1328), trichorhinophalangeal syndrome, type iii* (1318), trichorhinophalangeal syndrome type 1 and 3* (350), trichorhinophalangeal syndrome, type ii* (110), trichorhinophalangeal syndrome (39), brachydactyly (8), hypertrichosis (8), hereditary multiple osteochondromas (8), neonatal respiratory failure (7), prostate cancer (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.37 RPKM in Breast - Mammary Tissue
Total median expression: 133.89 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -35.30209-0.169 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR000679 - Znf_GATA
IPR013088 - Znf_NHR/GATA

Pfam Domains:
PF00320 - GATA zinc finger

ModBase Predicted Comparative 3D Structure on E5RFF3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006355 regulation of transcription, DNA-templated

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm

-  Descriptions from all associated GenBank mRNAs
  LF210265 - JP 2014500723-A/17768: Polycomb-Associated Non-Coding RNAs.
MA445842 - JP 2018138019-A/17768: Polycomb-Associated Non-Coding RNAs.
AF183810 - Homo sapiens zinc finger transcription factor TRPS1 mRNA, complete cds.
BC125020 - Homo sapiens trichorhinophalangeal syndrome I, mRNA (cDNA clone MGC:134928 IMAGE:40073132), complete cds.
AF264784 - Homo sapiens zinc finger protein GC79 mRNA, complete cds.
AK000948 - Homo sapiens cDNA FLJ10086 fis, clone HEMBA1002177, weakly similar to TRANSCRIPTION FACTOR GATA-4.
AK304046 - Homo sapiens cDNA FLJ56050 complete cds, highly similar to Zinc finger transcription factor Trps1.
AK309357 - Homo sapiens cDNA, FLJ99398.
KJ901810 - Synthetic construct Homo sapiens clone ccsbBroadEn_11204 TRPS1 gene, encodes complete protein.
KR711881 - Synthetic construct Homo sapiens clone CCSBHm_00031629 TRPS1 (TRPS1) mRNA, encodes complete protein.
JD486948 - Sequence 467972 from Patent EP1572962.
LF336280 - JP 2014500723-A/143783: Polycomb-Associated Non-Coding RNAs.
MA571857 - JP 2018138019-A/143783: Polycomb-Associated Non-Coding RNAs.
LF336281 - JP 2014500723-A/143784: Polycomb-Associated Non-Coding RNAs.
MA571858 - JP 2018138019-A/143784: Polycomb-Associated Non-Coding RNAs.
LF336282 - JP 2014500723-A/143785: Polycomb-Associated Non-Coding RNAs.
MA571859 - JP 2018138019-A/143785: Polycomb-Associated Non-Coding RNAs.
LF336283 - JP 2014500723-A/143786: Polycomb-Associated Non-Coding RNAs.
MA571860 - JP 2018138019-A/143786: Polycomb-Associated Non-Coding RNAs.
LF336284 - JP 2014500723-A/143787: Polycomb-Associated Non-Coding RNAs.
MA571861 - JP 2018138019-A/143787: Polycomb-Associated Non-Coding RNAs.
LF336285 - JP 2014500723-A/143788: Polycomb-Associated Non-Coding RNAs.
MA571862 - JP 2018138019-A/143788: Polycomb-Associated Non-Coding RNAs.
LF336286 - JP 2014500723-A/143789: Polycomb-Associated Non-Coding RNAs.
MA571863 - JP 2018138019-A/143789: Polycomb-Associated Non-Coding RNAs.
LF336287 - JP 2014500723-A/143790: Polycomb-Associated Non-Coding RNAs.
MA571864 - JP 2018138019-A/143790: Polycomb-Associated Non-Coding RNAs.
LF336388 - JP 2014500723-A/143891: Polycomb-Associated Non-Coding RNAs.
MA571965 - JP 2018138019-A/143891: Polycomb-Associated Non-Coding RNAs.
LF336391 - JP 2014500723-A/143894: Polycomb-Associated Non-Coding RNAs.
MA571968 - JP 2018138019-A/143894: Polycomb-Associated Non-Coding RNAs.
LF336393 - JP 2014500723-A/143896: Polycomb-Associated Non-Coding RNAs.
MA571970 - JP 2018138019-A/143896: Polycomb-Associated Non-Coding RNAs.
LF336394 - JP 2014500723-A/143897: Polycomb-Associated Non-Coding RNAs.
MA571971 - JP 2018138019-A/143897: Polycomb-Associated Non-Coding RNAs.
LF336396 - JP 2014500723-A/143899: Polycomb-Associated Non-Coding RNAs.
MA571973 - JP 2018138019-A/143899: Polycomb-Associated Non-Coding RNAs.
LF336397 - JP 2014500723-A/143900: Polycomb-Associated Non-Coding RNAs.
MA571974 - JP 2018138019-A/143900: Polycomb-Associated Non-Coding RNAs.
LF336398 - JP 2014500723-A/143901: Polycomb-Associated Non-Coding RNAs.
MA571975 - JP 2018138019-A/143901: Polycomb-Associated Non-Coding RNAs.
LF336399 - JP 2014500723-A/143902: Polycomb-Associated Non-Coding RNAs.
MA571976 - JP 2018138019-A/143902: Polycomb-Associated Non-Coding RNAs.
LF336400 - JP 2014500723-A/143903: Polycomb-Associated Non-Coding RNAs.
MA571977 - JP 2018138019-A/143903: Polycomb-Associated Non-Coding RNAs.
LF336401 - JP 2014500723-A/143904: Polycomb-Associated Non-Coding RNAs.
MA571978 - JP 2018138019-A/143904: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: AF264784, E5RFF3, E5RFF3_HUMAN, uc064pqo.1
UCSC ID: uc064pqo.1
RefSeq Accession: NM_001282902
Protein: E5RFF3

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TRPS1:
tps (Trichorhinophalangeal Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.