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

C1QTNF5 Gene

protein-coding   GIFtS: 49
GCID: GC11M119243

C1q and tumor necrosis factor related protein 5

 Explore 14 diseases affiliated with
C1QTNF5 via our new
 Human Malady Compendium 
Biological research products
for C1QTNF5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
C1q And Tumor Necrosis Factor Related Protein 51 2
CTRP51 2 3 5
LORD1 2 5
DKFZp586B06211
Complement C1q Tumor Necrosis Factor-Related Protein 52

External Ids:    HGNC: 143441   Entrez Gene: 1149022   Ensembl: ENSG000002239537   OMIM: 6087525   UniProtKB: Q9BXJ03   

Export aliases for C1QTNF5 gene to outside databases

Previous GC identifers: GC11U990608 GC11M120721 GC11M118747 GC11M118715 GC11M115151


(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 C1QTNF5:
This gene encodes a member of the a member of the C1q/tumor necrosis factor superfamily. The encoded protein may be a
component of basement membranes and may play a role in cell adhesion. This gene is contained entirely within the 3'
UTR of the membrane frizzled-related protein gene on chromosome 11q23 and both genes are expressed from a bicistronic
transcript. Mutations in this gene have been associated with late-onset retinal degeneration.(provided by RefSeq, May
2010)

Gene Wiki entry for C1QTNF5


(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_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1QTNF5 gene promoter:
         STAT1   HTF   MyoD   C/EBPalpha   Egr-4   CREB   S8   POU2F1   deltaCREB   POU2F1a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C1QTNF5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1QTNF5


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

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

C1QTNF5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1QTNF5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M119243:  view genomic region     (about GC identifiers)

Start:
119,209,652 bp from pter      End:
119,217,383 bp from pter
Size:
7,732 bases      Orientation:
minus strand

(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: C1QT5_HUMAN, Q9BXJ0 (See protein sequence)
Recommended Name: Complement C1q tumor necrosis factor-related protein 5 precursor  
Size: 243 amino acids; 25298 Da
Subcellular location: Secreted (Probable)
1 PDB 3D structure from and Proteopedia for C1QTNF5:
4F3J (3D)    
Secondary accessions: A6NDD3 B0YJ35 Q335M2 Q8N6P2 Q9UFX4

Explore the universe of human proteins at neXtProt for C1QTNF5: NX_Q9BXJ0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BXJ0

  • C1QTNF5 Protein expression data from MOPED and PaxDb:    About this image 
    C1QTNF5 Protein Expression
    REFSEQ proteins: NP_056460.1  
    ENSEMBL proteins: 
     ENSP00000431140   ENSP00000402389  

    Human Recombinant Protein Products for C1QTNF5: 
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    Uscn Proteins for C1QTNF5

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005581collagen IEA--

    C1QTNF5 for ontologies           About GeneDecksing



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

    C1QTNF5 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR008983 Tumour_necrosis_fac-like_dom
     IPR008160 Collagen
     IPR001073 C1q

    Graphical View of Domain Structure for InterPro Entry Q9BXJ0

    ProtoNet protein and cluster: Q9BXJ0

    2 Blocks protein families:
    IPB001073 Complement C1q protein
    IPB008160 Collagen triple helix repeat


    UniProtKB/Swiss-Prot: C1QT5_HUMAN, Q9BXJ0
    Similarity: Contains 1 C1q domain
    Similarity: Contains 1 collagen-like domain


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

    Phenotypes:
         1 GenomeRNAi human phenotype for C1QTNF5:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for C1qtnf5):
     cardiovascular system  nervous system  normal  pigmentation  vision/eye 

    C1QTNF5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C1QTNF5 

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    hsa-miR-3194-5p hsa-miR-4251 hsa-miR-4290 hsa-miR-3921 hsa-miR-635
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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1QTNF5


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C1QTNF5

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

    2 Interacting proteins for C1QTNF5 (Q9BXJ03 ENSP000004023894) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC2A4P146723I2D: score=2 
    MFRPENSP000003916644STRING: ENSP00000391664
    About this table

    (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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C1QTNF5
    Search CenterWatch for drugs/clinical trials and news about C1QTNF5 / C1QT5 

    (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, Sirion Biotech, 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 C1QTNF5 gene: 
    NM_015645.3  

    Unigene Cluster for C1QTNF5:

    C1q and tumor necrosis factor related protein 5
    Hs.632102  [show with all ESTs]
    Unigene Representative Sequence: BC036675
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525657 ENST00000528368 ENST00000445041

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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate C1QTNF5:
    hsa-miR-3194-5p hsa-miR-4251 hsa-miR-4290 hsa-miR-3921 hsa-miR-635
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C1QTNF5 (see all 7)
    OriGene shRNA RFP: C1QTNF5
    OriGene siRNA: C1QTNF5
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    Sirion Biotech Custom design and validation of potent shRNA sequences against C1QTNF5 
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C1QTNF5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C1QTNF5

    Additional cDNA sequence: 

    AB055505.1 AF086482.1 AF329841.1 AJ862823.1 AK055132.1 AK295203.1 AL110261.1 AY358383.1 
    BC029485.1 BC036675.1 

    6 DOTS entries:

    DT.411344  DT.95170481  DT.92418575  DT.100744595  DT.95170478  DT.100020201 

    24/96 AceView cDNA sequences (see all 96):

    AI805087 BM021127 BM893587 BM966810 AF086482 CA397875 BM021381 AI564511 
    AI783751 AI619600 AL110261 BF724241 CA390714 BM929480 NM_015645 BM719761 
    BU742804 BM547549 BE138819 BM924569 BM544255 AW190639 CK904254 BM966954 

    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™, 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

    C1QTNF5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGCAGTGGC
    C1QTNF5 Expression
    About this image

    C1QTNF5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusBrain
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C1QTNF5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1QTNF5

    SOURCE GeneReport for Unigene cluster: Hs.632102
        SABiosciences Custom PCR Arrays for C1QTNF5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1QTNF5

    (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 C1QTNF5 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves C1QTNF51 C1q and tumor necrosis factor related protein 5 73.11(n)
    73.66(a)
      769989  XM_001232466.2  XP_001232467.2 
    lizard
    (Anolis carolinensis)
    Reptilia C1QTNF56
    --
    70(a)
    1 ↔ 1
    GL343797.1(29769-32504)
    zebrafish
    (Danio rerio)
    Actinopterygii wufb02f052 Transcribed sequence with weak similarity to protein more 73.67(n)    BI705095.1 


    ENSEMBL Gene Tree for C1QTNF5 (if available)
    TreeFam Gene Tree for C1QTNF5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C1QTNF5 gene
    C1QL32  COL8A22  C1QL22  C1QTNF92  OTOL12  C1QB2  COL10A12  C1QTNF32  
    C1QTNF9B2  C1QA2  COL8A12  C1QL12  C1QTNF72  C1QTNF22  C1QC2  C1QL42  
    ADIPOQ2  
    10 SIMAP similar genes for C1QTNF5 using alignment to 2 protein entries:     C1QT5_HUMAN (see all proteins):
    MFRP    CUBN    OTOL1    C1QC    ADIPOQ    DKFZp686L21135
    C1QL3    C1QB    C1QTNF9    C1QTNF9B

    C1QTNF5 for paralogs           About GeneDecksing



    (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

    Human Gene Mutation Database (HGMD): C1QTNF5
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C1QTNF5
    DNA2.0 Custom Variant and Variant Library Synthesis for C1QTNF5

    (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

    C1QTNF5 for disorders           About GeneDecksing

    OMIM gene information: 608752   
    OMIM disorders: 605670  
    UniProtKB/Swiss-Prot: C1QT5_HUMAN, Q9BXJ0
  • Defects in C1QTNF5 are a cause of late-onset retinal degeneration (LORD) [MIM:605670]. LORD is an autosomal
  • dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white
    deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal
    neovascularization and chorioretinal atrophy

    14 diseases for C1QTNF5:    About MalaCards
    late-onset retinal degeneration    retinal degeneration, late-onset, autosomal dominant    retinal degeneration    retinitis
    age related macular degeneration    spastic hemiplegia    chorioretinal atrophy    macular degeneration
    chorioretinitis    night blindness    hemiplegia    blindness
    spasticity    choroiditis

    1 Novoseek disease relationship for C1QTNF5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinal degeneration 76.2 1 12944416 (1)

    Human Genome Epidemiology (HuGE) Navigator: C1QTNF5 (2 documents)

    Export disorders for C1QTNF5 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)
    About This Section

    PubMed articles for C1QTNF5 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with C1QTNF5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. (PubMed id 12944416)1, 2, 3, 9 Hayward C.... Wright A.F. (2003)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    5. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. (PubMed id 16123441)1, 9 Ayyagari R....Sieving P.A. (2005)
    6. Long anterior lens zonules in late-onset retinal degeneration (L-ORD). (PubMed id 16376663)1, 9 Subrayan V....Dhillon B. (2005)
    7. The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. (PubMed id 22277927)1 Vincent A....Heon E. (2012)
    8. The global gene-expression profiles of U-937 human mac rophages treated with Tat peptide and Tat-FITC conjugate. (PubMed id 22632162)1 Lin C.W....Jan M.S. (2012)
    9. Effects of aerobic exercise training on C1q tumor necr osis factor a-related protein isoform 5 (myonectin): association with insulin re sistance and mitochondrial DNA density in women. (PubMed id 22031510)1 Lim S....Park K.S. (2012)
    10. Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration. (PubMed id 22110650)1 Shu X....Wright A.F. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 114902 HGNC: 14344 AceView: C1QTNF5andMFRP Ensembl:ENSG00000223953 euGenes: HUgn114902
    ECgene: C1QTNF5 H-InvDB: C1QTNF5

    (According to HUGE)
    About This Section
      --

    (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 C1QTNF5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for C1QTNF5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C1QTNF5 gene:
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