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Aliases for TRPS1 Gene

Aliases for TRPS1 Gene

  • Transcriptional Repressor GATA Binding 1 2 3
  • Trichorhinophalangeal Syndrome I 2 3 5
  • Tricho-Rhino-Phalangeal Syndrome Type I Protein 3 4
  • Zinc Finger Protein GC79 3 4
  • LGCR 3
  • GC79 3

External Ids for TRPS1 Gene

Previous GeneCards Identifiers for TRPS1 Gene

  • GC08M116481
  • GC08M116089
  • GC08M116377
  • GC08M116489
  • GC08M111746

Summaries for TRPS1 Gene

Entrez Gene Summary for TRPS1 Gene

  • 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]

GeneCards Summary for TRPS1 Gene

TRPS1 (Transcriptional Repressor GATA Binding 1) is a Protein Coding gene. Diseases associated with TRPS1 include Trichorhinophalangeal Syndrome, Type I and Trichorhinophalangeal Syndrome, Type Iii. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is IKZF4.

UniProtKB/Swiss-Prot for TRPS1 Gene

  • Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes.

Gene Wiki entry for TRPS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPS1 Gene

Genomics for TRPS1 Gene

Regulatory Elements for TRPS1 Gene

Enhancers for TRPS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TRPS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TRPS1 Gene

Chromosome:
8
Start:
115,408,496 bp from pter
End:
115,809,673 bp from pter
Size:
401,178 bases
Orientation:
Minus strand

Genomic View for TRPS1 Gene

Genes around TRPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPS1 Gene

Proteins for TRPS1 Gene

  • Protein details for TRPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHF7-TRPS1_HUMAN
    Recommended name:
    Zinc finger transcription factor Trps1
    Protein Accession:
    Q9UHF7
    Secondary Accessions:
    • B4E1Z5
    • Q08AU2
    • Q9NWE1
    • Q9UHH6

    Protein attributes for TRPS1 Gene

    Size:
    1281 amino acids
    Molecular mass:
    141521 Da
    Quaternary structure:
    • Interacts with RNF4; regulates TRPS1 repressor activity. Interacts specifically with the activator form of GLI3 (GLI3A) but not with the repressor form (GLI3R).
    SequenceCaution:
    • Sequence=AAI25021.1; Type=Erroneous termination; Positions=854; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=BAA91441.1; Type=Frameshift; Positions=1276; Evidence={ECO:0000305};

    Alternative splice isoforms for TRPS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPS1 Gene

Proteomics data for TRPS1 Gene at MOPED

Post-translational modifications for TRPS1 Gene

  • Sumoylated. Sumoylation in the repressor domain inhibits the transcription repression activity. Sumoylation on Lys-1201 is the major site. Appears to be sumoylated on multiple sites.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TRPS1 Gene

Domains & Families for TRPS1 Gene

Protein Domains for TRPS1 Gene

Suggested Antigen Peptide Sequences for TRPS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHF7

UniProtKB/Swiss-Prot:

TRPS1_HUMAN :
  • Contains 7 C2H2-type zinc fingers.
Similarity:
  • Contains 7 C2H2-type zinc fingers.
  • Contains 1 GATA-type zinc finger.
genes like me logo Genes that share domains with TRPS1: view

Function for TRPS1 Gene

Molecular function for TRPS1 Gene

GENATLAS Biochemistry:
tricho-rhino-phalangeal syndrome type I gene,putative transcription factor,with two alternative transcripts,expressed in fetal brain,kidney,adult heart,brain,placenta,lung,liver,skeletal muscle and pancreas
UniProtKB/Swiss-Prot Function:
Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes.

Gene Ontology (GO) - Molecular Function for TRPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,TAS 10615131
genes like me logo Genes that share ontologies with TRPS1: view
genes like me logo Genes that share phenotypes with TRPS1: view

Human Phenotype Ontology for TRPS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRPS1 Gene

MGI Knock Outs for TRPS1:

Animal Model Products

miRNA for TRPS1 Gene

miRTarBase miRNAs that target TRPS1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRPS1 Gene

Localization for TRPS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPS1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRPS1 Gene COMPARTMENTS Subcellular localization image for TRPS1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for TRPS1 Gene

Pathways & Interactions for TRPS1 Gene

SuperPathways for TRPS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TRPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 12885770
GO:0007507 heart development IBA --
GO:0031063 regulation of histone deacetylation IEA --
GO:0032330 regulation of chondrocyte differentiation IEA,ISS --
GO:0045165 cell fate commitment IBA --
genes like me logo Genes that share ontologies with TRPS1: view

No data available for Pathways by source and SIGNOR curated interactions for TRPS1 Gene

Drugs & Compounds for TRPS1 Gene

(2) Drugs for TRPS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2102

(1) Additional Compounds for TRPS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TRPS1: view

Transcripts for TRPS1 Gene

Unigene Clusters for TRPS1 Gene

Trichorhinophalangeal syndrome I:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TRPS1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1:
SP2:
SP3: -
SP4: - -
SP5: -
SP6:

Relevant External Links for TRPS1 Gene

GeneLoc Exon Structure for
TRPS1
ECgene alternative splicing isoforms for
TRPS1

Expression for TRPS1 Gene

mRNA expression in normal human tissues for TRPS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRPS1 Gene

This gene is overexpressed in Breast - Mammary Tissue (x5.0).

Protein differential expression in normal tissues from HIPED for TRPS1 Gene

This gene is overexpressed in Urine (37.4) and Retina (24.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TRPS1 Gene



SOURCE GeneReport for Unigene cluster for TRPS1 Gene Hs.657018

mRNA Expression by UniProt/SwissProt for TRPS1 Gene

Q9UHF7-TRPS1_HUMAN
Tissue specificity: Ubiquitously expressed in the adult. Found in fetal brain, lung, kidney, liver, spleen and thymus. More highly expressed in androgen-dependent than in androgen-independent prostate cancer cells.
genes like me logo Genes that share expression patterns with TRPS1: view

Protein tissue co-expression partners for TRPS1 Gene

Primer Products

Orthologs for TRPS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TRPS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TRPS1 35
  • 93.4 (n)
  • 95.36 (a)
TRPS1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPS1 35
  • 94.82 (n)
  • 96.52 (a)
TRPS1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trps1 35
  • 91.33 (n)
  • 93.21 (a)
Trps1 16
Trps1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TRPS1 35
  • 99.67 (n)
  • 99.85 (a)
TRPS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trps1 35
  • 91.18 (n)
  • 93.05 (a)
oppossum
(Monodelphis domestica)
Mammalia TRPS1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRPS1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRPS1 35
  • 85.95 (n)
  • 87.39 (a)
TRPS1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRPS1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trps1 35
  • 77.01 (n)
  • 77.27 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11978 35
zebrafish
(Danio rerio)
Actinopterygii trps1 35
  • 59.34 (n)
  • 58.08 (a)
trps1 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta GATAd 36
  • 15 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea egl-18 36
  • 18 (a)
OneToMany
elt-6 36
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAL80 36
  • 20 (a)
ManyToMany
GAT1 36
  • 17 (a)
ManyToMany
GLN3 36
  • 12 (a)
ManyToMany
GZF3 36
  • 15 (a)
ManyToMany
GLN3 38
Species with no ortholog for TRPS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRPS1 Gene

ENSEMBL:
Gene Tree for TRPS1 (if available)
TreeFam:
Gene Tree for TRPS1 (if available)

Paralogs for TRPS1 Gene

Paralogs for TRPS1 Gene

genes like me logo Genes that share paralogs with TRPS1: view

Variants for TRPS1 Gene

Sequence variations from dbSNP and Humsavar for TRPS1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_012807 Tricho-rhino-phalangeal syndrome 3 (TRPS3)
VAR_012808 Tricho-rhino-phalangeal syndrome 3 (TRPS3)
VAR_012809 Tricho-rhino-phalangeal syndrome 3 (TRPS3)
VAR_012810 Tricho-rhino-phalangeal syndrome 3 (TRPS3)
VAR_012811 Tricho-rhino-phalangeal syndrome 3 (TRPS3)

Structural Variations from Database of Genomic Variants (DGV) for TRPS1 Gene

Variant ID Type Subtype PubMed ID
nsv428205 CNV Gain 18775914
nsv891401 CNV Loss 21882294
esv6878 OTHER Inversion 19470904
esv2629108 CNV Deletion 19546169
esv2737464 CNV Deletion 23290073
esv2404318 CNV Deletion 18987734
esv3802 CNV Deletion 18987735
esv2737465 CNV Deletion 23290073
esv995406 CNV Deletion 20482838
esv9057 CNV Loss 19470904
nsv891402 CNV Gain 21882294
nsv510167 CNV Loss 20534489
esv2510901 CNV Deletion 19546169
esv2678631 CNV Deletion 23128226

Variation tolerance for TRPS1 Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRPS1 Gene

Human Gene Mutation Database (HGMD)
TRPS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPS1 Gene

Disorders for TRPS1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TRPS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
trichorhinophalangeal syndrome, type i
  • trichorhinophalangeal syndrome, type iii
trichorhinophalangeal syndrome, type iii
  • trichorhinophalangeal syndrome type iii
trichorhinophalangeal syndrome type 1 and 3
trichorhinophalangeal syndrome, type ii
  • lennox-gastaut syndrome
hypertrichosis
  • hypertrichosis nos
- elite association - COSMIC cancer census association via MalaCards
Search TRPS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRPS1_HUMAN
  • Tricho-rhino-phalangeal syndrome 1 (TRPS1) [MIM:190350]: Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature. {ECO:0000269 PubMed:14560312}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tricho-rhino-phalangeal syndrome 2 (TRPS2) [MIM:150230]: A syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.
  • Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351]: Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In TRPS3 a more severe brachydactyly and growth retardation are observed. {ECO:0000269 PubMed:11112658, ECO:0000269 PubMed:11807863}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TRPS1 Gene

tricho-rhino-phalangeal syndrome I,characterized by sparse scalp hair,a bulbous tip of the nose,a long flat philtrum,a thin upper vermilion border and protruding ears,associated with skeletal anomalies including cone-shaped epiphyses at the phalanges,hip malformation and short stature

Relevant External Links for TRPS1

Genetic Association Database (GAD)
TRPS1
Human Genome Epidemiology (HuGE) Navigator
TRPS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRPS1
genes like me logo Genes that share disorders with TRPS1: view

Publications for TRPS1 Gene

  1. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. (PMID: 10615131) Momeni P. … Luedecke H.-J. (Nat. Genet. 2000) 2 3 4 67
  2. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. (PMID: 10647898) LA1decke H.J. … Horsthemke B. (Hum. Genet. 1999) 2 3 23
  3. 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). (PMID: 8530105) Hou J. … Elder F.F. (Genomics 1995) 2 3 23
  4. Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation. (PMID: 20177376) Al-Dosari M.S. … Alkuraya F.S. (Clin. Dysmorphol. 2010) 3 23
  5. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. (PMID: 18713754) Fantauzzo K.A. … Christiano A.M. (Hum. Mol. Genet. 2008) 3 23

Products for TRPS1 Gene

Sources for TRPS1 Gene

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