CRTAP
Cartilage-associated protein
Also known as: CASP, CRTAP_HUMAN, LEPREL3, P3H5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75718
- Gene
- CRTAP
- Ensembl
- ENSG00000170275
- Chromosome
- 3
- Canonical length
- 401 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted secreted proteins
- Subcellular location
- Intermediate filaments,Actin filaments,Cytosol
- Secretome location
- Secreted to blood
OverviewNCBI Gene
The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
401 residues, UniProt reviewed canonical sequence.
>O75718|CRTAP
1 MEPGRRGAAA LLALLCVACA LRAGRAQYER YSFRSFPRDE LMPLESAYRH ALDKYSGEHW
61 AESVGYLEIS LRLHRLLRDS EAFCHRNCSA APQPEPAAGL ASYPELRLFG GLLRRAHCLK
121 RCKQGLPAFR QSQPSREVLA DFQRREPYKF LQFAYFKANN LPKAIAAAHT FLLKHPDDEM
181 MKRNMAYYKS LPGAEDYIKD LETKSYESLF IRAVRAYNGE NWRTSITDME LALPDFFKAF
241 YECLAACEGS REIKDFKDFY LSIADHYVEV LECKIQCEEN LTPVIGGYPV EKFVATMYHY
301 LQFAYYKLND LKNAAPCAVS YLLFDQNDKV MQQNLVYYQY HRDTWGLSDE HFQPRPEAVQ
361 FFNVTTLQKE LYDFAKENIM DDDEGEVVEY VDDLLELEET SLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CRTAP 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)
- 0.32
- Highest tissue expression
- 221 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 221 nTPM
- cervix: 161 nTPM
- endometrium: 150 nTPM
- adipose tissue: 148 nTPM
- urinary bladder: 141 nTPM
- colon: 135 nTPM
Single-cell type
- decidual stromal cells: 195 nCPM
- smooth muscle cells: 170 nCPM
- kupffer cells: 166 nCPM
- monocytes: 154 nCPM
- vascular smooth muscle cells: 154 nCPM
- hofbauer cells: 140 nCPM
Immune cell
- classical monocyte: 378 nTPM
- myeloid DC: 307 nTPM
- total PBMC: 200 nTPM
- intermediate monocyte: 148 nTPM
- plasmacytoid DC: 83 nTPM
- T-reg: 74 nTPM
Brain region
- basal ganglia: 99 nTPM
- white matter: 98 nTPM
- spinal cord: 98 nTPM
- thalamus: 94 nTPM
- hypothalamus: 92 nTPM
- medulla oblongata: 92 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CRTAP.
Disease | AllUniProt
Conditions CRTAP is implicated in, by any mechanism.
- Osteogenesis imperfecta 7 (OI7) MIM:610682
Disease | GeneticClinVar
68 pathogenic / likely-pathogenic of 720 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Osteogenesis imperfecta type 7
- Osteogenesis imperfecta
- CRTAP-related disorder
- Hepatocellular carcinoma
- Nonpapillary renal cell carcinoma
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)
- 0.86
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.44
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- collagen fibril organization
- negative regulation of post-translational protein modification
- protein folding
- protein stabilization
- spermatogenesis
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CRTAP 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 CRTAP as an antibody target. Whether an autoantibody or antibody against CRTAP could matter depends on whether native CRTAP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CRTAP is annotated as secreted, so native CRTAP 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 CRTAP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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