CLUAP1
Clusterin-associated protein 1
Also known as: CFAP22, CLUA1_HUMAN, FAP22, FLJ13297, IFT38, KIAA0643
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96AJ1
- Gene
- CLUAP1
- Ensembl
- ENSG00000103351
- Chromosome
- 16
- Canonical length
- 413 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles,Actin filaments,Primary cilium
OverviewNCBI Gene
The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
Canonical amino-acid sequenceUniProt
413 residues, UniProt reviewed canonical sequence.
>Q96AJ1|CLUAP1
1 MSFRDLRNFT EMMRALGYPR HISMENFRTP NFGLVSEVLL WLVKRYEPQT DIPPDVDTEQ
61 DRVFFIKAIA QFMATKAHIK LNTKKLYQAD GYAVKELLKI TSVLYNAMKT KGMEGSEIVE
121 EDVNKFKFDL GSKIADLKAA RQLASEITSK GASLYDLLGM EVELREMRTE AIARPLEINE
181 TEKVMRIAIK EILTQVQKTK DLLNNVASDE ANLEAKIEKR KLELERNRKR LETLQSVRPC
241 FMDEYEKTEE ELQKQYDTYL EKFQNLTYLE QQLEDHHRME QERFEEAKNT LCLIQNKLKE
301 EEKRLLKSGS NDDSDIDIQE DDESDSELEE RRLPKPQTAM EMLMQGRPGK RIVGTMQGGD
361 SDDNEDSEES EIDMEDDDDE DDDLEDESIS LSPTKPNRRV RKSEPLDESD NDFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CLUAP1 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 37 nTPM
Expression across tissuesHPA
Tissue
- testis: 37 nTPM
- fallopian tube: 30 nTPM
- parathyroid gland: 29 nTPM
- retina: 27 nTPM
- choroid plexus: 25 nTPM
- endometrium: 23 nTPM
Single-cell type
- late primary spermatocytes: 222 nCPM
- respiratory ciliated cells: 218 nCPM
- early spermatids: 163 nCPM
- fallopian tube ciliated cells: 137 nCPM
- early primary spermatocytes: 94 nCPM
- endometrial ciliated cells: 90 nCPM
Immune cell
- naive CD4 T-cell: 27 nTPM
- naive CD8 T-cell: 18 nTPM
- memory CD4 T-cell: 18 nTPM
- MAIT T-cell: 12 nTPM
- memory CD8 T-cell: 11 nTPM
- T-reg: 10 nTPM
Brain region
- choroid plexus: 45 nTPM
- cerebellum: 37 nTPM
- midbrain: 35 nTPM
- basal ganglia: 34 nTPM
- hypothalamus: 33 nTPM
- cerebral cortex: 32 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CLUAP1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 461 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Leber congenital amaurosis
- Toriello-Lacassie-Droste syndrome
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)
- 0.68
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.04
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axoneme assembly
- cilium assembly
- floor plate formation
- heart looping
- intraciliary anterograde transport
- neural tube closure
- smoothened signaling pathway
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Clusterin-associated protein-1
- Clusterin-associated protein-1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CLUAP1 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 CLUAP1 as an antibody target. Whether an autoantibody or antibody against CLUAP1 could matter depends on whether native CLUAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CLUAP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CLUAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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