Human Gene C1QTNF5 (ENST00000530681.2) Description and Page Index
  Description: Secreted (Probable). (from UniProt Q9BXJ0)
RefSeq Summary (NM_001278431): 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].
Gencode Transcript: ENST00000530681.2
Gencode Gene: ENSG00000223953.6
Transcript (Including UTRs)
   Position: hg38 chr11:119,339,187-119,340,567 Size: 1,381 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr11:119,339,331-119,340,397 Size: 1,067 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr11:119,339,187-119,340,567)mRNA (may differ from genome)Protein (243 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
MGIneXtProtPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Complement C1q tumor necrosis factor-related protein 5; Flags: Precursor;
SUBCELLULAR LOCATION: Secreted (Probable).
DISEASE: 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.
SIMILARITY: Contains 1 C1q domain.
SIMILARITY: Contains 1 collagen-like domain.

-  MalaCards Disease Associations
  MalaCards Gene Search: C1QTNF5
Diseases sorted by gene-association score: retinal degeneration, late-onset, autosomal dominant* (1250), retinal degeneration (36)
* = Manually curated disease association

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -82.10170-0.483 Picture PostScript Text
3' UTR -53.60144-0.372 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001073 - C1q
IPR008160 - Collagen
IPR008983 - Tumour_necrosis_fac-like

Pfam Domains:
PF00386 - C1q domain
PF01391 - Collagen triple helix repeat (20 copies)

ModBase Predicted Comparative 3D Structure on Q9BXJ0
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0042802 identical protein binding

Biological Process:
GO:0009306 protein secretion
GO:0048839 inner ear development
GO:0070206 protein trimerization

Cellular Component:
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma membrane
GO:0030133 transport vesicle
GO:0042995 cell projection

-  Descriptions from all associated GenBank mRNAs
  AF086482 - Homo sapiens full length insert cDNA clone ZD92F04.
AL110261 - Homo sapiens mRNA; cDNA DKFZp586B0621 (from clone DKFZp586B0621).
AF329841 - Homo sapiens complement-c1q tumor necrosis factor-related protein (CTRP5) mRNA, complete cds.
AY358383 - Homo sapiens clone DNA40592 CTRP5 (UNQ303) mRNA, complete cds.
BC029485 - Homo sapiens membrane frizzled-related protein, mRNA (cDNA clone IMAGE:5278184), complete cds.
AJ862823 - Homo sapiens bicistronic mRNA for membrane frizzled related protein (MFRP gene) and C1Q TNF related protein 5 (CTRP5 gene).
BC036675 - Homo sapiens cDNA clone IMAGE:5262504, **** WARNING: chimeric clone ****.
JD473489 - Sequence 454513 from Patent EP1572962.
AB590791 - Synthetic construct DNA, clone: pFN21AE1221, Homo sapiens C1QTNF5 gene for C1q and tumor necrosis factor related protein 5, without stop codon, in Flexi system.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NDD3, AF329841, B0YJ35, C1QT5_HUMAN, CTRP5, Q335M2, Q8N6P2, Q9BXJ0, Q9UFX4, uc284mzs.1, UNQ303/PRO344
UCSC ID: uc284mzs.1
RefSeq Accession: NM_001278431
Protein: Q9BXJ0 (aka C1QT5_HUMAN or CQT5_HUMAN)
CCDS: CCDS8420.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.