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] See more...

Aliases for CLUAP1 Gene

Aliases for CLUAP1 Gene

  • Clusterin Associated Protein 1 2 3 5
  • Cilia And Flagella Associated Protein 22 2 3
  • Clusterin-Associated Protein 1 3 4
  • KIAA0643 2 4
  • CFAP22 2 3
  • FAP22 2 3
  • IFT38 2 3
  • Flagellar Associated Protein 22, Qilin-Like Protein, Homolog (Chlamydomonas) 2
  • Flagellar Associated Protein 22, Qilin-Like Protein, Homolog 3
  • FLJ13297 2
  • CLUAP1 5
  • Qilin 4

External Ids for CLUAP1 Gene

Previous GeneCards Identifiers for CLUAP1 Gene

  • GC16P003491
  • GC16P003550
  • GC16P003520

Summaries for CLUAP1 Gene

Entrez Gene Summary for CLUAP1 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]

GeneCards Summary for CLUAP1 Gene

CLUAP1 (Clusterin Associated Protein 1) is a Protein Coding gene. Diseases associated with CLUAP1 include Oculoectodermal Syndrome and Leber Plus Disease. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport.

UniProtKB/Swiss-Prot Summary for CLUAP1 Gene

  • Required for cilia biogenesis. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Key regulator of hedgehog signaling.

Gene Wiki entry for CLUAP1 Gene

Additional gene information for CLUAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLUAP1 Gene

Genomics for CLUAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CLUAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLUAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLUAP1

Top Transcription factor binding sites by QIAGEN in the CLUAP1 gene promoter:
  • Elk-1
  • FAC1
  • LUN-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for CLUAP1 Gene

Genomic Locations for CLUAP1 Gene
chr16:3,500,976-3,539,048
(GRCh38/hg38)
Size:
38,073 bases
Orientation:
Plus strand
chr16:3,550,924-3,589,048
(GRCh37/hg19)
Size:
38,125 bases
Orientation:
Plus strand

Genomic View for CLUAP1 Gene

Genes around CLUAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLUAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLUAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLUAP1 Gene

Proteins for CLUAP1 Gene

  • Protein details for CLUAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AJ1-CLUA1_HUMAN
    Recommended name:
    Clusterin-associated protein 1
    Protein Accession:
    Q96AJ1
    Secondary Accessions:
    • O75138
    • Q65ZA3
    • Q9H8R4
    • Q9H8T1

    Protein attributes for CLUAP1 Gene

    Size:
    413 amino acids
    Molecular mass:
    48125 Da
    Quaternary structure:
    • Interacts with CLU/clusterin (PubMed:15480429). Interacts with UBXN10; the interaction is direct (PubMed:26389662).
    SequenceCaution:
    • Sequence=BAA31618.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAB14523.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • Associated with a number of cancers such as colon (PubMed:15480429) and bone cancer (PubMed:17203229). Possibly involved in polycystic kidney diseases (PubMed:15530380).

    Alternative splice isoforms for CLUAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLUAP1 Gene

Post-translational modifications for CLUAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CLUAP1 Gene

Domains & Families for CLUAP1 Gene

Gene Families for CLUAP1 Gene

Protein Domains for CLUAP1 Gene

InterPro:
Blocks:
  • Calponin-like actin-binding
ProtoNet:

Suggested Antigen Peptide Sequences for CLUAP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53730, highly similar to Clusterin-associated protein 1 (B4DFY1_HUMAN)
  • Clusterin-associated protein 1 (CLUA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96AJ1

UniProtKB/Swiss-Prot:

CLUA1_HUMAN :
  • Belongs to the CLUAP1 family.
Family:
  • Belongs to the CLUAP1 family.
genes like me logo Genes that share domains with CLUAP1: view

Function for CLUAP1 Gene

Molecular function for CLUAP1 Gene

UniProtKB/Swiss-Prot Function:
Required for cilia biogenesis. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Key regulator of hedgehog signaling.

Phenotypes From GWAS Catalog for CLUAP1 Gene

Gene Ontology (GO) - Molecular Function for CLUAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CLUAP1: view
genes like me logo Genes that share phenotypes with CLUAP1: view

Animal Models for CLUAP1 Gene

MGI Knock Outs for CLUAP1:

Animal Model Products

CRISPR Products

miRNA for CLUAP1 Gene

miRTarBase miRNAs that target CLUAP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLUAP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLUAP1 Gene

Localization for CLUAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLUAP1 Gene

Cell projection, cilium. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLUAP1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLUAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005813 centrosome IBA 21873635
GO:0005929 cilium IBA,TAS --
GO:0030992 intraciliary transport particle B IBA 21873635
genes like me logo Genes that share ontologies with CLUAP1: view

Pathways & Interactions for CLUAP1 Gene

genes like me logo Genes that share pathways with CLUAP1: view

Pathways by source for CLUAP1 Gene

Gene Ontology (GO) - Biological Process for CLUAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0035735 intraciliary transport involved in cilium assembly TAS --
GO:0060271 cilium assembly IBA 21873635
genes like me logo Genes that share ontologies with CLUAP1: view

No data available for SIGNOR curated interactions for CLUAP1 Gene

Drugs & Compounds for CLUAP1 Gene

No Compound Related Data Available

Transcripts for CLUAP1 Gene

mRNA/cDNA for CLUAP1 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLUAP1

Alternative Splicing Database (ASD) splice patterns (SP) for CLUAP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b
SP1: - - - -
SP2: - -
SP3: -
SP4: - - -
SP5: - - -
SP6:
SP7:

Relevant External Links for CLUAP1 Gene

GeneLoc Exon Structure for
CLUAP1

Expression for CLUAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLUAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CLUAP1 Gene

This gene is overexpressed in Testis (51.9) and Ovary (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CLUAP1 Gene



Protein tissue co-expression partners for CLUAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLUAP1

SOURCE GeneReport for Unigene cluster for CLUAP1 Gene:

Hs.155995

mRNA Expression by UniProt/SwissProt for CLUAP1 Gene:

Q96AJ1-CLUA1_HUMAN
Tissue specificity: Expressed in testis, thyroid and trachea and to a lower extent in spinal cord and adrenal gland. Highly expressed in colon cancer and osteosarcoma cell lines.

Evidence on tissue expression from TISSUES for CLUAP1 Gene

  • Nervous system(4.7)
  • Skin(4.4)
  • Kidney(2.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with CLUAP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLUAP1 Gene

Orthologs for CLUAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CLUAP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CLUAP1 30 31
  • 99.68 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CLUAP1 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CLUAP1 30 31
  • 89.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cluap1 30 17 31
  • 86.76 (n)
OneToMany
Gm20695 31
  • 57 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Cluap1 30
  • 86.4 (n)
Cow
(Bos Taurus)
Mammalia CLUAP1 30 31
  • 84.67 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CLUAP1 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CLUAP1 30 31
  • 74.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 80 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cluap1 30
  • 69.57 (n)
Zebrafish
(Danio rerio)
Actinopterygii cluap1 30 31
  • 65.21 (n)
OneToOne
Dr.5944 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000246 30
  • 47.32 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG17599 30 31
  • 45.47 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea dyf-3 30 31
  • 51.37 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.514 30
Species where no ortholog for CLUAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CLUAP1 Gene

ENSEMBL:
Gene Tree for CLUAP1 (if available)
TreeFam:
Gene Tree for CLUAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLUAP1: view image

Paralogs for CLUAP1 Gene

No data available for Paralogs for CLUAP1 Gene

Variants for CLUAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLUAP1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
711989 Benign: not provided 3,526,475(+) A/C MISSENSE_VARIANT
717034 Benign: not provided 3,512,380(+) C/T INTRON_VARIANT
776970 Benign: not provided 3,506,398(+) G/T MISSENSE_VARIANT
838716 Uncertain Significance: not provided 3,504,835(+) C/T INTRON_VARIANT
842615 Uncertain Significance: not provided 3,536,222(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CLUAP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CLUAP1 Gene

Variant ID Type Subtype PubMed ID
nsv1716 CNV insertion 18451855
nsv833128 CNV loss 17160897

Variation tolerance for CLUAP1 Gene

Residual Variation Intolerance Score: 82.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.40; 85.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLUAP1 Gene

Human Gene Mutation Database (HGMD)
CLUAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLUAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLUAP1 Gene

Disorders for CLUAP1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for CLUAP1 Gene - From: ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CLUAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLUAP1 Gene

Publications for CLUAP1 Gene

  1. Isolation and characterization of a novel gene CLUAP1 whose expression is frequently upregulated in colon cancer. (PMID: 15480429) Takahashi M … Furukawa Y (Oncogene 2004) 2 3 4
  2. Systematic proteomics of the VCP-UBXD adaptor network identifies a role for UBXN10 in regulating ciliogenesis. (PMID: 26389662) Raman M … Harper JW (Nature cell biology 2015) 3 4
  3. Characterization of mouse IFT complex B. (PMID: 19253336) Follit JA … Pazour GJ (Cell motility and the cytoskeleton 2009) 2 3
  4. Identification of CLUAP1 as a human osteosarcoma tumor-associated antigen recognized by the humoral immune system. (PMID: 17203229) Ishikura H … Nishimura T (International journal of oncology 2007) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for CLUAP1 Gene

  • Signalway Proteins for CLUAP1

Sources for CLUAP1 Gene