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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TRPS1 Gene

protein-coding   GIFtS: 61
GCID: GC08M116489

trichorhinophalangeal syndrome I
 Explore 21 diseases affiliated with
TRPS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TRPS1    

Aliases
for TRPS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Trichorhinophalangeal Syndrome I1 2
LGCR1 2
Tricho-Rhino-Phalangeal Syndrome Type I Protein2 3
Zinc Finger Protein GC792 3
GC792
Zinc Finger Transcription Factor Trps12

External Ids:    HGNC: 123401   Entrez Gene: 72272   Ensembl: ENSG000001044477   OMIM: 6043865   UniProtKB: Q9UHF73   

Export aliases for TRPS1 gene to outside databases

Previous GC identifers: GC08M115408 GC08M116481 GC08M116089 GC08M116377 GC08M111746


Summaries
for TRPS1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TRPS1:
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)

UniProtKB/Swiss-Prot: TRPS1_HUMAN, Q9UHF7
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 Wiki entry for TRPS1 (Tricho-rhino-phalangeal syndrome Type 1)


Genomic Views
for TRPS1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TRPS1 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   MEF-2A   E2F   E2F-1   HFH-1   STAT3   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TRPS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TRPS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRPS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24.12   Ensembl cytogenetic band:  8q23.3   HGNC cytogenetic band: 8q23.3

TRPS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPS1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M116489:  view genomic region     (about GC identifiers)

Start:
 116,420,724 bp from pter      End:
 116,821,899 bp from pter
Size:
 401,176 bases      Orientation:
 minus strand

Proteins
for TRPS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TRPS1_HUMAN, Q9UHF7 (See protein sequence)
Recommended Name: Zinc finger transcription factor Trps1  
Size: 1281 amino acids; 141521 Da
Subunit: Interacts with RNF4; regulates TRPS1 repressor activity. Interacts specifically with the activator form of
GLI3 (GLI3A) but not with the repressor form (GLI3R)
Subcellular location: Nucleus
Sequence caution: Sequence=AAI25021.1; Type=Erroneous termination; Positions=854; Note=Translated as Gln;
Sequence=BAA91441.1; Type=Frameshift; Positions=1276;
Secondary accessions: B4E1Z5 Q08AU2 Q9NWE1 Q9UHH6
Alternative splicing: 3 isoforms:  Q9UHF7-1   Q9UHF7-2   Q9UHF7-3   

Explore the universe of human proteins at neXtProt for TRPS1: NX_Q9UHF7

Post-translational modifications:

  • 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 sites1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UHF7

    • TRPS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_054831.2  
    ENSEMBL proteins: 
     ENSP00000379065   ENSP00000220888   ENSP00000430803   ENSP00000428910   ENSP00000428680  
     ENSP00000428121   ENSP00000429174   ENSP00000379063   ENSP00000430383   ENSP00000405028  
     ENSP00000400360  

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    Uscn Proteins for TRPS1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA12885770


    TRPS1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TRPS1

    Protein Domains /
    Families
    for TRPS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TRPS1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR013088 Znf_NHR/GATA
     IPR007087 Znf_C2H2
     IPR000679 Znf_GATA

    Graphical View of Domain Structure for InterPro Entry Q9UHF7

    ProtoNet protein and cluster: Q9UHF7

    1 Blocks protein family: IPB000679 Zn-finger

    UniProtKB/Swiss-Prot: TRPS1_HUMAN, Q9UHF7
    Similarity: Contains 7 C2H2-type zinc fingers
    Similarity: Contains 1 GATA-type zinc finger


    Function
    for TRPS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: TRPS1_HUMAN, Q9UHF7
    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

         Genatlas biochemistry entry for TRPS1:
    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

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TRPS1
    8/243 QIAGEN miScript miRNA Assays for microRNAs that regulate TRPS1 (see all 243):
    hsa-miR-411* hsa-miR-576-3p hsa-miR-579 hsa-miR-132* hsa-miR-361-5p hsa-miR-520f hsa-miR-106a hsa-miR-138-2*
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0043565sequence-specific DNA binding IEA--


    TRPS1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for TRPS1:
     Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

    Animal Models:
         Mouse knock-outs for TRPS1: Trps1tm1.1Shiv Trps1tm1Shiv
         9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Trps1):
     craniofacial  digestive/alimentary  growth/size  homeostasis/metabolism  integument 
     mortality/aging  renal/urinary system  respiratory system  skeleton 

    TRPS1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TRPS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TRPS1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for TRPS1 (Q9UHF71, 2, 3 ENSP000003790654) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF4P783172, 3, ENSP000003152124MINT-19194 MINT-19195 MINT-19193 I2D: score=2 STRING: ENSP00000315212
    CDC42P609533I2D: score=2 
    ORFQ9Q2G41EBI-2556151,EBI-6248094
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA12885770
    GO:0001501skeletal system development TAS10615131
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS10615131
    GO:0006607NLS-bearing substrate import into nucleus TAS10615131


    TRPS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TRPS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TRPS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for TRPS1

    1 HMDB Compound for TRPS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ZincZinc (see all 2)7440-66-6--
    3 Novoseek chemical compound relationships for TRPS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gc 79 95.1 16 10974077 (9), 9307296 (3)
    zinc 42.5 6 12446778 (2), 14680804 (1), 12761050 (1), 11285235 (1)
    testosterone 0 15 15613454 (7), 14680804 (3)

    Search CenterWatch for drugs/clinical trials and news about TRPS1 

    Transcripts
    for TRPS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TRPS1 gene: 
    NM_014112.2  

    Unigene Cluster for TRPS1:

    Trichorhinophalangeal syndrome I
    Hs.657018  [show with all ESTs]
    Unigene Representative Sequence: AF183810
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395715(uc011lhy.2 uc003yny.3 uc003ynz.3 uc010mcy.3)
    ENST00000220888 ENST00000517323 ENST00000519076 ENST00000520276 ENST00000518018
    ENST00000519674 ENST00000395713 ENST00000519815 ENST00000422939 ENST00000451156


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TRPS1
    8/243 QIAGEN miScript miRNA Assays for microRNAs that regulate TRPS1 (see all 243):
    hsa-miR-411* hsa-miR-576-3p hsa-miR-579 hsa-miR-132* hsa-miR-361-5p hsa-miR-520f hsa-miR-106a hsa-miR-138-2*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: TRPS1
    OriGene siRNA: TRPS1
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF183810.1 AF264784.1 AK000948.1 AK021470.1 AK021511.1 AK304046.1 AK309357.1 BC125020.1 

    4 DOTS entries:

    DT.423633  DT.95079835  DT.100750262  DT.120635910 

    24/123 AceView cDNA sequences (see all 123):

    AW021592 AA662457 AI858596 CA433049 AA653508 AI130713 BQ773902 NM_014112 
    CR591796 AI610247 BP358486 AI810449 AI380343 AA553731 AI167168 AU117175 
    BQ009058 BI492548 BM680766 AW889283 AA470941 BF439110 AA773768 AW070915 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TRPS1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for TRPS1

    Expression
    for TRPS1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TRPS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTTGGTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TRPS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/19 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 19) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    EyeInner Nuclear LayerGABAergic Amacrine CellsAmacrine, Retina
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BoneStylopod Long BoneBone
    BoneThoracic RibBone
    BrainMedulla OblongataBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TRPS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRPS1

    SOURCE GeneReport for Unigene cluster: Hs.657018

    UniProtKB/Swiss-Prot: TRPS1_HUMAN, Q9UHF7
    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

        SABiosciences Custom PCR Arrays for TRPS1
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    In Situ
    Assay Products:     
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    Orthologs
    for TRPS1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for TRPS1 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves TRPS11 trichorhinophalangeal syndrome I 85.98(n)
    87.39(a)    		   420289  XM_418402.3  XP_418402.3 
    lizard
    (Anolis carolinensis)    		 Reptilia TRPS16
    		 --
    		 82(a)
    		 1 ↔ 1
    		 4(7696641-7877503)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.119782 Xenopus laevis atypical GATA protein TRPS1 (TRPS1) more 81.87(n)    AF346838.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii trps11 trichorhinophalangeal syndrome I 59.53(n)
    58.41(a)    		   795613  NM_001177934.1  NP_001171405.1 


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

    Paralogs
    for TRPS1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TRPS1 gene
    IKZF42  IKZF52  IKZF12  IKZF32  IKZF22  
    1 SIMAP similar gene for TRPS1 using alignment to 8 protein entries:     TRPS1_HUMAN (see all proteins):
    GATA1

    TRPS1 for paralogs           About GeneDecksing



    Genomic Variants
    for TRPS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4029 NCBI SNPs in TRPS1 are shown (see all 4029)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs777684751,2
    		C,--111745768(+) ACTCA-/CTTGAA 1 -- ds50010--------
    rs16612151,2
    		C,H--111746194(+) CATAAG/AAAATA 1 -- ut312Minor allele frequency- A:0.00MN NS 284
    rs748583321,2
    		--111747229(+) GGGAAC/TTGACA 1 -- ut311Minor allele frequency- T:0.01NA 120
    rs119939231,2
    		C,H--111747579(+) TCCGGG/TGTAGG 1 -- ut311Minor allele frequency- T:0.00NA 2
    rs773094531,2
    		C,F,--111747653(+) TTTCTC/AACGTG 1 -- ut311Minor allele frequency- A:0.08WA 118
    rs737051851,2
    		C,--111747921(+) GGCGTC/ACTTCT 1 -- ut312Minor allele frequency- A:0.06WA 120
    rs737051861,2
    		--111748121(+) TTTTTG/TCCATG 1 -- ut311Minor allele frequency- T:0.50WA 2
    rs78389601,2
    		A,H--111748562(+) TTTCCC/TTTCTC 1 -- ut313Minor allele frequency- T:0.00EA NS 296
    rs733634421,2
    		C,--111749030(+) TCATCA/CCAGGG 1 -- ut312Minor allele frequency- C:0.04WA 120
    rs78432931,2
    		C,F,--111749260(+) TTTCAA/GAAAAG 1 -- ut311Minor allele frequency- G:0.14WA 118

    HapMap Linkage Disequilibrium report for TRPS1 (116420724 - 116670724 bp, first 250kb of TRPS1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for TRPS1
         5 CNVs: 95649 95647 100474 100473 95648
         4 Indels: 62844 41124 42116 47440
         1 Inversion: 59860
    Human Gene Mutation Database (HGMD): TRPS1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TRPS1
    DNA2.0 Custom Variant and Variant Library Synthesis for TRPS1

    Disorders / Diseases
    for TRPS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TRPS1 for disorders           About GeneDecksing

    OMIM gene information: 604386   
    OMIM disorders: 190350  190351  
    UniProtKB/Swiss-Prot: TRPS1_HUMAN, Q9UHF7
  • Defects in TRPS1 are the cause of tricho-rhino-phalangeal syndrome type 1 (TRPS1) [MIM:190350]. TRPS1 is an
    • 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
  • Defects in TRPS1 are a cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2) [MIM:150230]. A syndrome that
    • combines the clinical features of trichorhinophalangeal 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=A chromosomal aberration resulting in the loss of functional copies of TRPS1 and
    EXT1 has been found in TRPS2 patients
  • Defects in TRPS1 are the cause of tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]. TRPS3 is an
    • 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

    20/21 diseases for TRPS1 (see all 21):    About MalaCards
    trichorhinophalangeal syndrome    langer-giedion syndrome    cartilage-hair hypoplasia    trichorhinophalangeal syndrome type i
    growth hormone deficiency    neonatal respiratory failure    exostoses    ambras syndrome
    congenital heart defect    short stature    brachydactyly    exostosis
    hypertrichosis    respiratory failure    coloboma    convulsions
    prostate carcinoma    prostate cancer    prostatitis    carcinoma

    3 diseases from the University of Copenhagen DISEASES database for TRPS1:
    Trichorhinophalangeal syndrome type I     Exostosis     Hypertrichosis

    6 Novoseek disease relationships for TRPS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    langer-giedion syndrome 94.6 8 8530105 (2), 19464398 (1), 18478595 (1), 12457403 (1) (see all 6)
    exostoses multiple hereditary 71.2 3 8530105 (2)
    brachydactyly 62.6 1 11112658 (1)
    prostate cancer 30 18 15613454 (4), 17467349 (3), 10974077 (2), 14680804 (1) (see all 5)
    prostate carcinoma 25.7 3 14997205 (3)
    carcinoma 0 2 15613454 (1)

    Genatlas disease: TRPS1
    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

    Human Genome Epidemiology (HuGE) Navigator: TRPS1 (6 documents)

    Export disorders for TRPS1 gene to outside databases

    Publications
    for TRPS1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TRPS1 gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with TRPS1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. (PubMed id 10615131)1, 2, 3 Momeni P....Ludecke H.J. (2000)
    2. Characterization of a zinc-finger protein and its association with apoptosis in prostate cancer cells. (PubMed id 10974077)1, 2, 9 Chang G.T.G....Brinkmann A.O. (2000)
    3. SUMOylation modulates transcriptional repression by TRPS1. (PubMed id 17391059)1, 2, 9 Kaiser F.J.... Weger S. (2007)
    4. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. (PubMed id 11112658)1, 2, 9 Luedecke H.-J.... Horsthemke B. (2001)
    5. Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. (PubMed id 11807863)1, 2, 9 Kobayashi H.... Kurahachi H. (2002)
    6. 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). (PubMed id 8530105)1, 3, 9 Hou J....Elder F.F. (1995)
    7. The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factor. (PubMed id 12885770)1, 2, 9 Kaiser F.J....Ludecke H.J. (2003)
    8. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. (PubMed id 10647898)1, 3, 9 Ludecke H.J....Horsthemke B. (1999)
    9. Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3. (PubMed id 19389374)1, 2 Wuelling M....Vortkamp A. (2009)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    External Searches for TRPS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing TRPS1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7227 HGNC: 12340 AceView: TRPS1 Ensembl:ENSG00000104447 euGenes: HUgn7227
    ECgene: TRPS1 H-InvDB: TRPS1

    Other Databases showing TRPS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TRPS1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TRPS1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TRPS1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TRPS1

    Intellectual Property
    for TRPS1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TRPS1 gene:
    Search GeneIP for patents involving TRPS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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