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Aliases for C1QTNF5 Gene

Aliases for C1QTNF5 Gene

  • C1q And Tumor Necrosis Factor Related Protein 5 2 3 5
  • CTRP5 3 4
  • Complement C1q Tumor Necrosis Factor-Related Protein 5 Precursor Variant 3 2
  • Complement-C1q Tumor Necrosis Factor-Related Protein 5 2
  • C1q TNF-Alpha-Related Protein 5 3
  • Myonectin 3

External Ids for C1QTNF5 Gene

Previous GeneCards Identifiers for C1QTNF5 Gene

  • GC11U990608
  • GC11M120721
  • GC11M119243
  • GC11M118747
  • GC11M118715
  • GC11M115151
  • GC11M119217

Summaries for C1QTNF5 Gene

Entrez Gene Summary for C1QTNF5 Gene

  • This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]

GeneCards Summary for C1QTNF5 Gene

C1QTNF5 (C1q And Tumor Necrosis Factor Related Protein 5) is a Protein Coding gene. Diseases associated with C1QTNF5 include retinal degeneration, late-onset, autosomal dominant and retinal degeneration. An important paralog of this gene is COL8A1.

Gene Wiki entry for C1QTNF5 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1QTNF5 Gene

Genomics for C1QTNF5 Gene

Regulatory Elements for C1QTNF5 Gene

Genomic Location for C1QTNF5 Gene

Chromosome:
11
Start:
119,338,934 bp from pter
End:
119,346,673 bp from pter
Size:
7,740 bases
Orientation:
Minus strand

Genomic View for C1QTNF5 Gene

Genes around C1QTNF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1QTNF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1QTNF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1QTNF5 Gene

Proteins for C1QTNF5 Gene

  • Protein details for C1QTNF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXJ0-C1QT5_HUMAN
    Recommended name:
    Complement C1q tumor necrosis factor-related protein 5
    Protein Accession:
    Q9BXJ0
    Secondary Accessions:
    • A6NDD3
    • B0YJ35
    • Q335M2
    • Q8N6P2
    • Q9UFX4

    Protein attributes for C1QTNF5 Gene

    Size:
    243 amino acids
    Molecular mass:
    25298 Da
    Quaternary structure:
    • May interact with FAM132B (By similarity). Homotrimer (via collagen-like domain). May form higher order oligomers by supercoiling of the trimers.
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the MFRP protein from a non-overlapping reading frame.

    Three dimensional structures from OCA and Proteopedia for C1QTNF5 Gene

neXtProt entry for C1QTNF5 Gene

Proteomics data for C1QTNF5 Gene at MOPED

Post-translational modifications for C1QTNF5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1QTNF5 Gene

Antibody Products

No data available for DME Specific Peptides for C1QTNF5 Gene

Domains & Families for C1QTNF5 Gene

Protein Domains for C1QTNF5 Gene

Suggested Antigen Peptide Sequences for C1QTNF5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BXJ0

UniProtKB/Swiss-Prot:

C1QT5_HUMAN :
  • Contains 1 C1q domain.
Domain:
  • Contains 1 C1q domain.
  • Contains 1 collagen-like domain.
genes like me logo Genes that share domains with C1QTNF5: view

No data available for Gene Families for C1QTNF5 Gene

Function for C1QTNF5 Gene

genes like me logo Genes that share phenotypes with C1QTNF5: view

Human Phenotype Ontology for C1QTNF5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C1QTNF5 Gene

MGI Knock Outs for C1QTNF5:

Animal Model Products

  • Taconic Biosciences Mouse Models for C1QTNF5

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for C1QTNF5 Gene

Localization for C1QTNF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1QTNF5 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C1QTNF5 Gene COMPARTMENTS Subcellular localization image for C1QTNF5 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for C1QTNF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane TAS --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with C1QTNF5: view

Pathways & Interactions for C1QTNF5 Gene

SuperPathways for C1QTNF5 Gene

No Data Available

Interacting Proteins for C1QTNF5 Gene

Gene Ontology (GO) - Biological Process for C1QTNF5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C1QTNF5 Gene

Drugs & Compounds for C1QTNF5 Gene

No Compound Related Data Available

Transcripts for C1QTNF5 Gene

Unigene Clusters for C1QTNF5 Gene

C1q and tumor necrosis factor related protein 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C1QTNF5 Gene

No ASD Table

Relevant External Links for C1QTNF5 Gene

GeneLoc Exon Structure for
C1QTNF5
ECgene alternative splicing isoforms for
C1QTNF5

Expression for C1QTNF5 Gene

mRNA expression in normal human tissues for C1QTNF5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C1QTNF5 Gene

This gene is overexpressed in Gallbladder (45.2) and Breast (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C1QTNF5 Gene



SOURCE GeneReport for Unigene cluster for C1QTNF5 Gene Hs.632102

genes like me logo Genes that share expression patterns with C1QTNF5: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for C1QTNF5 Gene

Orthologs for C1QTNF5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1QTNF5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1QTNF5 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1QTNF5 36
  • 97 (a)
OneToOne
C1QTNF5 35
  • 91.63 (n)
  • 97.12 (a)
dog
(Canis familiaris)
Mammalia C1QTNF5 35
  • 92.25 (n)
  • 97.67 (a)
C1QTNF5 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C1qtnf5 16
C1qtnf5 35
  • 85.87 (n)
  • 93.83 (a)
C1qtnf5 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C1QTNF5 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1qtnf5 35
  • 86.83 (n)
  • 95.06 (a)
chicken
(Gallus gallus)
Aves C1QTNF5 35
  • 73.83 (n)
  • 75.44 (a)
C1QTNF5 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1QTNF5 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1qtnf5 35
  • 56.85 (n)
  • 60.71 (a)
zebrafish
(Danio rerio)
Actinopterygii c1qtnf5 36
  • 62 (a)
OneToOne
c1qtnf5 35
  • 64.33 (n)
  • 65.35 (a)
wufb02f05 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 14 (a)
OneToMany
Species with no ortholog for C1QTNF5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C1QTNF5 Gene

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

Paralogs for C1QTNF5 Gene

(4) SIMAP similar genes for C1QTNF5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with C1QTNF5: view

Variants for C1QTNF5 Gene

Sequence variations from dbSNP and Humsavar for C1QTNF5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_032628 -
VAR_032629 Late-onset retinal degeneration (LORD)

Structural Variations from Database of Genomic Variants (DGV) for C1QTNF5 Gene

Variant ID Type Subtype PubMed ID
nsv898417 CNV Loss 21882294
nsv898418 CNV Loss 21882294
nsv826103 CNV Gain 20364138

Variation tolerance for C1QTNF5 Gene

Residual Variation Intolerance Score: 40.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C1QTNF5 Gene

HapMap Linkage Disequilibrium report
C1QTNF5
Human Gene Mutation Database (HGMD)
C1QTNF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1QTNF5 Gene

Disorders for C1QTNF5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C1QTNF5 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinal degeneration, late-onset, autosomal dominant
  • retinitis pigmentosa
retinal degeneration
  • degeneration of retina
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C1QT5_HUMAN
  • Late-onset retinal degeneration (LORD) [MIM:605670]: 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. {ECO:0000269 PubMed:12944416, ECO:0000269 PubMed:22892318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for C1QTNF5

Genetic Association Database (GAD)
C1QTNF5
Human Genome Epidemiology (HuGE) Navigator
C1QTNF5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C1QTNF5
genes like me logo Genes that share disorders with C1QTNF5: view

No data available for Genatlas for C1QTNF5 Gene

Publications for C1QTNF5 Gene

  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. (PMID: 12944416) Hayward C. … Wright A.F. (Hum. Mol. Genet. 2003) 2 3 4 23 67
  2. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. (PMID: 16123441) Ayyagari R. … Sieving P.A. (Invest. Ophthalmol. Vis. Sci. 2005) 3 23
  3. Long anterior lens zonules in late-onset retinal degeneration (L-ORD). (PMID: 16376663) Subrayan V. … Dhillon B. (Am. J. Ophthalmol. 2005) 3 23
  4. Late-Onset Retinal Degeneration Caused by C1QTNF5 Mutation: Sub-Retinal Pigment Epithelium Deposits and Visual Consequences. (PMID: 25010528) Jacobson S.G. … Wright A.F. (JAMA Ophthalmol 2014) 3
  5. The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements. (PMID: 24531000) Tu X. … Palczewski K. (J. Struct. Biol. 2014) 3

Products for C1QTNF5 Gene

Sources for C1QTNF5 Gene

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