C1QTNF5
Complement C1q tumor necrosis factor-related protein 5
Also known as: C1QT5_HUMAN, CTRP5, DKFZp586B0621, LORD
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BXJ0
- Gene
- C1QTNF5
- Ensembl
- ENSG00000223953
- Chromosome
- 11
- Canonical length
- 243 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted secreted proteins
- Secretome location
- Secreted to blood
- Quaternary structure
- Homotrimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
243 residues, UniProt reviewed canonical sequence.
>Q9BXJ0|C1QTNF5
1 MRPLLVLLLL GLAAGSPPLD DNKIPSLCPG HPGLPGTPGH HGSQGLPGRD GRDGRDGAPG
61 APGEKGEGGR PGLPGPRGDP GPRGEAGPAG PTGPAGECSV PPRSAFSAKR SESRVPPPSD
121 APLPFDRVLV NEQGHYDAVT GKFTCQVPGV YYFAVHATVY RASLQFDLVK NGESIASFFQ
181 FFGGWPKPAS LSGGAMVRLE PEDQVWVQVG VGDYIGIYAS IKTDSTFSGF LVYSDWHSSP
241 VFALocalizationUniProt · AlphaFold · HPA
Whether an antibody against C1QTNF5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 555 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 555 nTPM
- blood vessel: 55 nTPM
- adipose tissue: 50 nTPM
- gallbladder: 43 nTPM
- lung: 40 nTPM
- endometrium: 40 nTPM
Single-cell type
- choroid plexus epithelial cells: 235 nCPM
- ependymal cells: 31 nCPM
- astrocytes: 29 nCPM
- bergmann glia: 8.4 nCPM
- oligodendrocyte progenitor cells: 6 nCPM
- oligodendrocytes: 2.8 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 40 nTPM
- choroid plexus: 33 nTPM
- midbrain: 27 nTPM
- medulla oblongata: 26 nTPM
- spinal cord: 26 nTPM
- white matter: 25 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about C1QTNF5.
Disease | AllUniProt
Conditions C1QTNF5 is implicated in, by any mechanism.
- Late-onset retinal degeneration (LORD) MIM:605670
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 206 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.5
- gnomAD pLI
- 0.84
- gnomAD missense Z
- 1.16
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of C1QTNF5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads C1QTNF5 as an antibody target. Whether an autoantibody or antibody against C1QTNF5 could matter depends on whether native C1QTNF5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
C1QTNF5 is annotated as secreted, so native C1QTNF5 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label C1QTNF5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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