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TRPS1 Gene

protein-coding   GIFtS: 62
GCID: GC08M116489

Trichorhinophalangeal Syndrome I

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Trichorhinophalangeal Syndrome I1 2
Tricho-Rhino-Phalangeal Syndrome Type I Protein2 3
Zinc Finger Protein GC792 3
GC792
LGCR2
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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (trichorhinophalangeal syndrome I) is a protein-coding gene. Diseases associated with TRPS1 include sugio-kajii syndrome, and trichorhinophalangeal syndrome type ii. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GATA6.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_008046.17  NC_018919.2  
Regulatory elements:
   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 Chromatin IP Primers for TRPS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
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

Explore proteomics data for TRPS1 at MOPED

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
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TRPS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001269831.1  NP_001269832.1  NP_054831.2  

    ENSEMBL proteins: 
     ENSP00000379065   ENSP00000220888   ENSP00000428910   ENSP00000428680   ENSP00000428121  
     ENSP00000429174   ENSP00000430803   ENSP00000379063   ENSP00000430383   ENSP00000405028  
     ENSP00000400360  

    TRPS1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for TRPS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GATAD: GATA zinc finger domain containing
    ZNF: Zinc fingers, C2H2-type

    5 InterPro protein domains:
     IPR000679 Znf_GATA
     IPR015880 Znf_C2H2-like
     IPR013088 Znf_NHR/GATA
     IPR028440 Trps1
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q9UHF7

    ProtoNet protein and cluster: Q9UHF7

    1 Blocks protein domain: IPB000679 Zn-finger

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


    TRPS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI12885770
    GO:0008270zinc ion binding IEA--
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046872metal ion binding ----
         
    TRPS1 for ontologies           About GeneDecksing


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

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Trps1):
     craniofacial  digestive/alimentary  growth/size/body  homeostasis/metabolism  integument 
     mortality/aging  renal/urinary system  respiratory system  skeleton 

    TRPS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TRPS1: Trps1tm1.1Shiv Trps1tm1Shiv

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRPS1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRPS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRPS1

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    miRTarBase miRNAs that target TRPS1:
    hsa-mir-302d-3p (MIRT000092), hsa-mir-124-3p (MIRT022984), hsa-mir-99b-5p (MIRT044200), hsa-mir-26b-5p (MIRT030002), hsa-mir-372-3p (MIRT000058), hsa-mir-1 (MIRT023981)

    Block miRNA regulation of human, mouse, rat TRPS1 using miScript Target Protectors
    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat TRPS1

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRPS1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRPS1_HUMAN, Q9UHF7: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12885770

    TRPS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TRPS1
    Interactions:

        GeneGlobe Interaction Network for TRPS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for TRPS1 (Q9UHF71, 2, 3 ENSP000003790654) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF4P783172, 3, ENSP000003152124MINT-19194 MINT-19195 MINT-19193 I2D: score=2 STRING: ENSP00000315212
    CDC42P609533I2D: score=2 
    ARCN1ENSP000002640284STRING: ENSP00000264028
    BPTFENSP000003072084STRING: ENSP00000307208
    PBRM1ENSP000003492134STRING: ENSP00000349213
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    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:0002062chondrocyte differentiation IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS10615131

    TRPS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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 inferred 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)



    TRPS1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TRPS1 gene (3 alternative transcripts): 
    NM_001282902.2  NM_001282903.2  NM_014112.4  

    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 ENST00000519076 ENST00000520276 ENST00000518018 ENST00000519674
    ENST00000517323 ENST00000395713 ENST00000519815 ENST00000422939 ENST00000451156

    miRNA
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    Block miRNA regulation of human, mouse, rat TRPS1 using miScript Target Protectors
    Selected qRT-PCR 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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      QuantiFast Probe-based Assays in human, mouse, rat TRPS1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 123):

    AA662457 AI130713 BP358486 NM_014112 AW070915 BQ009058 AI380343 AI858596 
    AI810449 AA470941 CR591796 AI610247 CA433049 BI492548 BM680766 AW889283 
    AW021592 AF183810 BQ773902 BF434227 AA553731 AU117175 AA773768 AA653508 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TRPS1 expression in normal human tissues (normalized intensities)      TRPS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTTGGTGT
    TRPS1 Expression
    About this image


    TRPS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Disc Progenitors Temporomandibular Joint
             Maxillary Process
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Disc Progenitors Temporomandibular Joint
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Interzone Cells Stylopod Synovial Joint
             Pelvic Girdle
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
    TRPS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRPS1 Protein Expression

    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPS1

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

    Orthologs for TRPS1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trps11 , 5 trichorhinophalangeal syndrome I (human)1, 5 91.33(n)1
    93.21(a)1
      15 (19.18 cM)5
    839251  NM_032000.21  NP_114389.21 
     506547525 
    chicken
    (Gallus gallus)
    Aves TRPS11 trichorhinophalangeal syndrome I 85.95(n)
    87.39(a)
      420289  XM_004940005.1  XP_004940062.1 
    lizard
    (Anolis carolinensis)
    Reptilia TRPS16
    trichorhinophalangeal syndrome I
    83(a)
    1 ↔ 1
    4(7655864-7877503)
    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 59.34(n)
    58.08(a)
      795613  NM_001177934.1  NP_001171405.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta GATAd6
    GATAd
    15(a)
    1 ↔ 1
    2L(10333734-10339185)
    worm
    (Caenorhabditis elegans)
    Secernentea egl-186
    elt-66
    Protein ELT-6 (elt-6) mRNA, complete cds
    18(a)
    16(a)
    1 ↔ many
    1 ↔ many
    IV(1902323-1917614) WBGene00001186
    IV(1917854-1921640) WBGene00001253
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GLN3(YER040W)4 Transcriptional activator of genes regulated by nitrogen more   --   5(229795-231987) 856763  NP_010958.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TRPS1 gene
    GATA62  GATA42  GATA32  GATA22  GATA12  GATA52  

    TRPS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TRPS1 (see all 4770)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0381994
    Tricho-rhino-phalangeal syndrome 1 (TRPS1)4--see VAR_0381992 R H mis40--------
    VAR_0128094
    Tricho-rhino-phalangeal syndrome 3 (TRPS3)4--see VAR_0128092 R P mis40--------
    VAR_0128084
    Tricho-rhino-phalangeal syndrome 3 (TRPS3)4--see VAR_0128082 T P mis40--------
    VAR_0128104
    Tricho-rhino-phalangeal syndrome 3 (TRPS3)4--see VAR_0128102 R Q mis40--------
    VAR_0128074
    Tricho-rhino-phalangeal syndrome 3 (TRPS3)4--see VAR_0128072 V D mis40--------
    VAR_0381984
    Tricho-rhino-phalangeal syndrome 1 (TRPS1)4--see VAR_0381982 R C mis40--------
    VAR_0128114
    Tricho-rhino-phalangeal syndrome 3 (TRPS3)4--see VAR_0128112 A T mis40--------
    rs1836500681,2
    --111745622(+) TATTAA/GTTTAA 1 -- ds50010--------
    rs2311501,2
    C,F,A,H--111745707(+) GCAGGT/AGTTTT 1 -- ds500124Minor allele frequency- A:0.40NS EA NA WA CSA 2754
    rs777684751,2
    C--111745768(+) ACTCA-/CTTGAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TRPS1 (116420724 - 116670724 bp, first 250kb of TRPS1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TRPS1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv995406CNV Deletion20482838
    esv2737464CNV Deletion23290073
    esv2510901CNV Deletion19546169
    esv2404318CNV Deletion18987734
    esv3802CNV Deletion18987735
    esv2629108CNV Deletion19546169
    esv2678631CNV Deletion23128226
    esv2737465CNV Deletion23290073
    nsv510167CNV Loss20534489
    nsv891401CNV Loss21882294

    Human Gene Mutation Database (HGMD): TRPS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRPS1
    DNA2.0 Custom Variant and Variant Library Synthesis for TRPS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604386   
    OMIM disorders: 190350  190351  
    UniProtKB/Swiss-Prot: TRPS1_HUMAN, Q9UHF7
  • 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. 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for TRPS1 (see all 31):    About MalaCards
    sugio-kajii syndrome    trichorhinophalangeal syndrome type ii    trichorhinophalangeal syndrome type i    ambras syndrome
    neonatal respiratory failure    cartilage-hair hypoplasia    exostosis    respiratory failure
    hypertrichosis    brachydactyly    skeletal dysplasias    congenital heart defect
    eating disorder    coloboma    growth hormone deficiency    major depressive disorder
    short stature    narcolepsy    pulmonary function    intellectual disability

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

    TRPS1 for disorders           About GeneDecksing

    6 Novoseek inferred 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

    Genetic Association Database (GAD): TRPS1
    Human Genome Epidemiology (HuGE) Navigator: TRPS1 (6 documents)

    Export disorders for TRPS1 gene to outside databases

    (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)
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    PubMed articles for TRPS1 gene, integrated from 10 sources (see all 101):
    (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.... Luedecke H.-J. (Nat. Genet. 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. (J. Natl. Cancer Inst. 2000)
    3. SUMOylation modulates transcriptional repression by TRPS1. (PubMed id 17391059)1, 2, 9 Kaiser F.J.... Weger S. (Biol. Chem. 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. (Am. J. Hum. Genet. 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. (Am. J. Med. Genet. 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. (Genomics 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.... Luedecke H.J. (J. Biol. Chem. 2003)
    8. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. (PubMed id 10647898)1, 3, 9 LA1decke H.J....Horsthemke B. (Hum. Genet. 1999)
    9. A mega-analysis of genome-wide association studies for major depressive disorder. (PubMed id 22472876)1, 4  ....Sullivan P.F. (Mol. Psychiatry 2013)
    10. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=TRPS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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