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TCTEX1D4 Gene

protein-coding   GIFtS: 45
GCID: GC01M045271

Tctex1 Domain Containing 4

  Search for TCTEX1D4
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
Tctex1 Domain Containing 41 2     Tctex1 Domain-Containing Protein 42
Novel Tctex-1 Family Domain-Containing Protein1 2     Tctex2 Beta2
Protein N22.12 3     Tctex-2-beta3
tctex-2-beta2     

External Ids:    HGNC: 323151   Entrez Gene: 3435212   Ensembl: ENSG000001883967   OMIM: 6117135   UniProtKB: Q5JR983   

Export aliases for TCTEX1D4 gene to outside databases

Previous GC identifers: GC01M045045 GC01M043385


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TCTEX1D4 Gene:
TCTEX1D4 (Tctex1 domain containing 4) is a protein-coding gene. An important paralog of this gene is TCTEX1D2.


(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 at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TCTEX1D4 gene promoter:
         GR   Nkx2-5   Cart-1   FOXO1a   GR-alpha   Zic3   LyF-1   Pax-4a   FOXO1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCTEX1D4 promoter sequence
   Search Chromatin IP Primers for TCTEX1D4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TCTEX1D4


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

Entrez Gene cytogenetic band: 1p34.1   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p34.1

TCTEX1D4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCTEX1D4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M045271:  view genomic region     (about GC identifiers)

Start:
45,271,580 bp from pter      End:
45,272,957 bp from pter
Size:
1,378 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TC1D4_HUMAN, Q5JR98 (See protein sequence)
Recommended Name: Tctex1 domain-containing protein 4  
Size: 221 amino acids; 23353 Da
Subunit: Interacts with ENG/endoglin, TGFBR2 and TGFBR3

Explore the universe of human proteins at neXtProt for TCTEX1D4: NX_Q5JR98

Explore proteomics data for TCTEX1D4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TCTEX1D4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001013654.1  
    ENSEMBL proteins: 
     ENSP00000341803   ENSP00000361274  

    TCTEX1D4 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR005334 Tctex

    Graphical View of Domain Structure for InterPro Entry Q5JR98

    ProtoNet protein and cluster: Q5JR98

    1 Blocks protein domain: IPB005334 Tctex-1 family

    UniProtKB/Swiss-Prot: TC1D4_HUMAN, Q5JR98
    Similarity: Belongs to the dynein light chain Tctex-type family


    Find genes that share domains with TCTEX1D4           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with TCTEX1D4           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TCTEX1D4
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    6 qRT-PCR Assays for microRNAs that regulate TCTEX1D4:
    hsa-miR-1233 hsa-miR-3678-3p hsa-miR-298 hsa-miR-4323 hsa-miR-450b-5p hsa-miR-507
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TCTEX1D4

    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCTEX1D4


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    extracellular1

    (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 TCTEX1D4
    Interactions:

        Search GeneGlobe Interaction Network for TCTEX1D4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for TCTEX1D4 (Q5JR981, 3 ENSP000003418034) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR2P371733, ENSP000003519054I2D: score=1 STRING: ENSP00000351905
    TGFBR3Q031673, ENSP000002123554I2D: score=1 STRING: ENSP00000212355
    ACVR2AP270373, ENSP000002414164I2D: score=1 STRING: ENSP00000241416
    ENGP178133, ENSP000003622994I2D: score=1 STRING: ENSP00000362299
    PPP1CCP36873-11, ENSP000003350844EBI-4311709,EBI-356289 STRING: ENSP00000335084
    About this table

    (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 TCTEX1D4 (TC1D4)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TCTEX1D4 gene: 
    NM_001013632.2  

    Unigene Cluster for TCTEX1D4:

    Tctex1 domain containing 4
    Hs.585137  [show with all ESTs]
    Unigene Representative Sequence: NM_001013632
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339355(uc021omu.1) ENST00000372200(uc001cmp.3)
    miRNA
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    hsa-miR-1233 hsa-miR-3678-3p hsa-miR-298 hsa-miR-4323 hsa-miR-450b-5p hsa-miR-507
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat TCTEX1D4

    Additional mRNA sequence: 

    BC092499.1 DQ132441.1 

    1 DOTS entry:

    DT.100697678 

    1 AceView cDNA sequence:

    CF994778 

    GeneLoc Exon Structure


    (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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    TCTEX1D4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGGCCTGG
    TCTEX1D4 Expression
    About this image


    TCTEX1D4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole
    TCTEX1D4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TCTEX1D4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.585137

    UniProtKB/Swiss-Prot: TC1D4_HUMAN, Q5JR98
    Tissue specificity: Ubiquitously expressed

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCTEX1D4

    (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.

    Orthologs for TCTEX1D4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tctex1d41 , 5 Tctex1 domain containing 41, 5 74.43(n)1
    70.78(a)1
      4 (53.41 cM)5
    2426461  NM_175030.21  NP_778195.11 
     1171267945 
    chicken
    (Gallus gallus)
    Aves TCTEX1D41 Tctex1 domain containing 4 57.43(n)
    50.5(a)
      101747461  XM_004936734.1  XP_004936791.1 
    lizard
    (Anolis carolinensis)
    Reptilia TCTEX1D46
    Tctex1 domain containing 4
    49(a)
    1 ↔ 1
    4(110971164-110971565)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tctex1d41 Tctex1 domain containing 4 46.55(n)
    46.15(a)
      101732884  XM_004913984.1  XP_004914041.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7939761 tctex1 domain-containing protein 4-like 47.18(n)
    39.73(a)
      793976  XM_005171351.1  XP_005171408.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG53596
    CG72766
    --
    28(a)
    20(a)
    many ↔ many
    many ↔ many
    3R(5825491-5826998)
    3L(15491302-15491921)
    worm
    (Caenorhabditis elegans)
    Secernentea dylt-26
    Protein DYLT-2 (dylt-2) mRNA, complete cds
    22(a)
    1 → many
    X(8939389-8940143) WBGene00017014


    ENSEMBL Gene Tree for TCTEX1D4 (if available)
    TreeFam Gene Tree for TCTEX1D4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TCTEX1D4 gene
    TCTEX1D22  TCTE32  ENSG000002727412  TCTEX1D12  
    1 SIMAP similar gene for TCTEX1D4 using alignment to 1 protein entry:     TC1D4_HUMAN:
    TCTEX1D2

    Find genes that share paralogs with TCTEX1D4           About GenesLikeMe



    (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 TCTEX1D4 (see all 65)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1410715441,2
    F--43384230(+) CCCCTC/TCTTGT 1 -- ds50011Minor allele frequency- T:0.00NA 4552
    rs556544971,2
    C--43384256(+) AAATCA/GTAGTG 1 -- ds50010--------
    rs1512783181,2
    --43384265(+) TGCTTC/GTACTT 1 -- ds50010--------
    rs1393934151,2
    C,F--43384268(+) TTGTAC/TTTACC 1 -- ds50011Minor allele frequency- T:0.00NA 4530
    rs115494571,2
    C--43384291(-) CAGCTA/C/GCCGAA 1 -- ds50010--------
    rs1405300071,2
    --43384391(+) CTGAGA/GCCTGT 1 -- ds50010--------
    rs1853675911,2
    --43384491(+) AGGGAC/TCAGCT 1 -- ds50010--------
    rs1897784871,2
    --43384531(+) CTGGCC/TCCTAC 1 -- ds50010--------
    rs178807031,2
    C--43384536(+) TCCTAC/TCCCAT 1 -- ds50012Minor allele frequency- T:0.01NS NA 182
    rs1442086981,2
    C,F--43384718(+) GGACCG/ATGGCC 2 /T /M mis11Minor allele frequency- A:0.00NA 4034

    HapMap Linkage Disequilibrium report for TCTEX1D4 (45271580 - 45272957 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TCTEX1D4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv870815CNV Loss21882294
    nsv461406CNV Loss19166990
    nsv870773CNV Loss21882294
    nsv870876CNV Loss21882294
    nsv871320CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611713    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for TCTEX1D4:
    Hereditary hemorrhagic telangiectasia

    Find genes that share disorders with TCTEX1D4           About GenesLikeMe


    Export disorders for TCTEX1D4 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 TCTEX1D4 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TCTEX1D4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors. (PubMed id 16982625)1, 2 Meng Q.-J.... Garland J.M. (J. Biol. Chem. 2006)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Identification of the human testis protein phosphatase 1 interactome. (PubMed id 21382349)1 Fardilha M....da Cruz e Silva E.F. (Biochem. Pharmacol. 2011)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 343521 HGNC: 32315 AceView: LOC343521 Ensembl:ENSG00000188396 euGenes: HUgn343521
    ECgene: TCTEX1D4 H-InvDB: TCTEX1D4

    (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 TCTEX1D4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TCTEX1D4 gene:
    Search GeneIP for patents involving TCTEX1D4

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     OriGene Antibodies for TCTEX1D4   OriGene RNAi products in human, mouse, rat for TCTEX1D4  
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     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TCTEX1D4 Predesigned siRNA for gene silencing in human, mouse, rat TCTEX1D4
     QuantiFast Probe-based Assays in human, mouse, rat TCTEX1D4 QuantiTect SYBR Green Assays in human, mouse, rat TCTEX1D4
     Custom PCR Arrays for TCTEX1D4 Search Chromatin IP Primers for TCTEX1D4
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TCTEX1D4  Search GeneGlobe Interaction Network for TCTEX1D4
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     GenScript Custom Purified and Recombinant Proteins Services for TCTEX1D4 GenScript cDNA clones with any tag delivered in your preferred vector for TCTEX1D4
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TCTEX1D4
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     LSBio Antibodies in human, mouse, rat for TCTEX1D4
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     Search Addgene for plasmids for TCTEX1D4
      Search eBioscience for proteins for TCTEX1D4
      Search eBioscience for elisas for TCTEX1D4
      eBioscience FlowRNA Probe Sets
           
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