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
ID:C1QT5_HUMAN 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.
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.
ModBase Predicted Comparative 3D Structure on Q9BXJ0
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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.