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Aliases for C1QTNF5 Gene

Aliases for C1QTNF5 Gene

  • C1q And Tumor Necrosis Factor Related Protein 5 2 3
  • CTRP5 3 4 6
  • Complement C1q Tumor Necrosis Factor-Related Protein 5 Precursor Variant 3 2
  • Complement-C1q Tumor Necrosis Factor-Related Protein 5 2
  • Complement C1q Tumor Necrosis Factor-Related Protein 5 3
  • C1q TNF-Alpha-Related Protein 5 3
  • Myonectin 3
  • LORD 6

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 TLL1.

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C1QTNF5 Gene

Domains 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 :
  • Q9BXJ0
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

Gene Ontology (GO) - Molecular Function for C1QTNF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with C1QTNF5: view
genes like me logo Genes that share phenotypes with C1QTNF5: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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 4
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for C1QTNF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005581 collagen trimer IEA --
GO:0005886 plasma membrane --
GO:0016021 integral component of membrane --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with C1QTNF5: view

Pathways for C1QTNF5 Gene

SuperPathways for C1QTNF5 Gene

No Data Available

Interacting Proteins for C1QTNF5 Gene

Gene Ontology (GO) - Biological Process for C1QTNF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009790 embryo development --
genes like me logo Genes that share ontologies with C1QTNF5: view

No data available for Pathways by source for C1QTNF5 Gene

Transcripts for C1QTNF5 Gene

mRNA/cDNA 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

Integrated Proteomics: protein expression 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 expressions with C1QTNF5: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C1QTNF5 Gene

Orthologs for C1QTNF5 Gene

This gene was present in the common ancestor of animals.

Orthologs for C1QTNF5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia C1QTNF5 35
  • 91.63 (n)
  • 97.12 (a)
MFRP 36
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia C1QTNF5 35
  • 92.25 (n)
  • 97.67 (a)
mouse
(Mus musculus)
Mammalia C1qtnf5 35
  • 85.87 (n)
  • 93.83 (a)
C1qtnf5 16
Mfrp 36
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 49 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 5 (a)
ManyToMany
-- 36
  • 46 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia C1qtnf5 35
  • 86.83 (n)
  • 95.06 (a)
chicken
(Gallus gallus)
Aves C1QTNF5 35
  • 73.83 (n)
  • 75.44 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 53 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c1qtnf5 35
  • 56.85 (n)
  • 60.71 (a)
zebrafish
(Danio rerio)
Actinopterygii c1qtnf5 35
  • 64.33 (n)
  • 65.35 (a)
MFRP 36
  • 49 (a)
OneToMany
wufb02f05 35
fruit fly
(Drosophila melanogaster)
Insecta CG32702 36
  • 3 (a)
ManyToMany
CG42255 36
  • 3 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC116.3 36
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 14 (a)
ManyToMany
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)
  • 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)
  • 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)

Evolution for C1QTNF5 Gene

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

Paralogs for C1QTNF5 Gene

Paralogs for C1QTNF5 Gene

Selected 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 MAF
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

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

MalaCards: The human disease database. (2) Diseases for C1QTNF5 Gene including...

Search for C1QTNF5 Gene in MalaCards »

(1) OMIM Diseases for C1QTNF5 Gene (608752)

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.

(1) Novoseek inferred disease relationships for C1QTNF5 Gene

Disease -log(P) Hits PubMed IDs
retinal degeneration 76.2 1

Relevant External Links for C1QTNF5

Genetic Association Database (GAD)
C1QTNF5
Human Genome Epidemiology (HuGE) Navigator
C1QTNF5
genes like me logo Genes that share disorders with C1QTNF5: view

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
  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. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for C1QTNF5 Gene

Sources for C1QTNF5 Gene

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