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Aliases for CLUAP1 Gene

Aliases for CLUAP1 Gene

  • Clusterin Associated Protein 1 2 3 5
  • Cilia And Flagella Associated Protein 22 2 3
  • Flagellar Associated Protein 22, Qilin-Like Protein, Homolog (Chlamydomonas) 2
  • Flagellar Associated Protein 22, Qilin-Like Protein, Homolog 3
  • Clusterin-Associated Protein 1 3
  • KIAA0643 4
  • CFAP22 3
  • FAP22 3
  • IFT38 3
  • 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 Kcnj13-Related Leber Congenital Amaurosis and Oculoectodermal Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport.

UniProtKB/Swiss-Prot for CLUAP1 Gene

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

Gene Wiki entry for CLUAP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLUAP1 Gene

Genomics for CLUAP1 Gene

Regulatory Elements for CLUAP1 Gene

Enhancers for CLUAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G004211 2 FANTOM5 Ensembl ENCODE dbSUPER 22.3 +716.4 716420 11.0 CREB3L1 MLX AGO1 ZFP64 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF143 CREBBP SRL ZNF500 ZNF263 CLUAP1 ZNF597 TIGD7 ADCY9 MTCO1P28 ENSG00000263235
GH16G003609 1.1 ENCODE 39.2 +110.6 110574 3.8 HDGF FOXA2 PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZBTB7B SLC30A9 CLUAP1 ZNF213-AS1 NLRC3 ZNF174 TRAP1 MTRNR2L4 ZNF263 DNASE1 MTND1P8 GC16M003603
GH16G003156 1.7 FANTOM5 ENCODE dbSUPER 24.2 -342.1 -342131 3.8 CREB3L1 DMAP1 YY1 ZNF263 SP3 NFYC TBX21 MEF2D SSRP1 ZNF610 ZNF213-AS1 ZNF205 CLUAP1 RNPS1 MTCO1P28 ZNF174 ZNF263 MTND1P8 TIGD7 MTRNR2L4
GH16G002602 2.4 ENCODE dbSUPER 13.2 -897.3 -897308 1.7 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 TIGD7 NME3 CLUAP1 TBC1D24 ZNF213-AS1 MTCO1P28 ZNF597 ZNF174 MTND1P8 IFT140
GH16G003575 0.9 ENCODE 33.2 +77.3 77317 6.2 TBP NFIB RAD21 ZNF121 EGR1 ZNF143 ETV6 CREM EGR2 ZNF654 CLUAP1 NLRC3 DNASE1 GC16P003577
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CLUAP1 on UCSC Golden Path with GeneCards custom track

Promoters for CLUAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082649 176 1401 FOXA2 MLX ARNT CREB3L1 ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B
ENSR00000279500 -824 201 ADNP

Genomic Location for CLUAP1 Gene

Chromosome:
16
Start:
3,500,924 bp from pter
End:
3,539,048 bp from pter
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.
    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).
    SequenceCaution:
    • Sequence=BAA31618.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAB14523.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    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

Suggested Antigen Peptide Sequences for CLUAP1 Gene

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 (By similarity).

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

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

Nucleus. Cell projection, cilium.

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

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 --
GO:0005929 cilium TAS --
GO:0030992 intraciliary transport particle B IBA --
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 --
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

Unigene Clusters for CLUAP1 Gene

Clusterin associated protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
CLUAP1

Expression for CLUAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for CLUAP1 Gene



Protein tissue co-expression partners for CLUAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLUAP1 Gene:

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(4.6)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with CLUAP1: view

Primer Products

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 34 35
  • 99.68 (n)
oppossum
(Monodelphis domestica)
Mammalia CLUAP1 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLUAP1 34 35
  • 89.16 (n)
mouse
(Mus musculus)
Mammalia Cluap1 34 16 35
  • 86.76 (n)
Gm20695 35
  • 57 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cluap1 34
  • 86.4 (n)
cow
(Bos Taurus)
Mammalia CLUAP1 34 35
  • 84.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CLUAP1 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLUAP1 34 35
  • 74.66 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 80 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cluap1 34
  • 69.57 (n)
zebrafish
(Danio rerio)
Actinopterygii cluap1 34 35
  • 65.21 (n)
Dr.5944 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000246 34
  • 47.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17599 34 35
  • 45.47 (n)
worm
(Caenorhabditis elegans)
Secernentea dyf-3 34 35
  • 51.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.514 34
Species where no ortholog for CLUAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for CLUAP1 Gene

No data available for Paralogs for CLUAP1 Gene

Variants for CLUAP1 Gene

Sequence variations from dbSNP and Humsavar for CLUAP1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs751218423 Pathogenic 3,523,261(+) AACAG(C/T)TTGAA nc-transcript-variant, reference, missense
rs1000007245 -- 3,536,665(+) ACTCA(C/T)GTTTG nc-transcript-variant, utr-variant-3-prime
rs1000047338 -- 3,506,971(+) GTGGG(C/T)GGATC intron-variant
rs1000070201 -- 3,507,565(+) AAAAA(A/G)AAAAA intron-variant
rs1000095902 -- 3,538,246(+) AGGAA(C/T)TTTTG downstream-variant-500B, utr-variant-3-prime

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)

Relevant External Links 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

(4) MalaCards diseases for CLUAP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
kcnj13-related leber congenital amaurosis
  • leber congenital amaurosis
oculoectodermal syndrome
  • aplasia cutis congenita with epibulbar dermoids
psychosexual disorder
  • psychosexual disorders
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CLUAP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLUAP1
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 64
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 64
  3. Characterization of mouse IFT complex B. (PMID: 19253336) Follit J.A. … Pazour G.J. (Cell Motil. Cytoskeleton 2009) 2 3 64
  4. Identification of CLUAP1 as a human osteosarcoma tumor-associated antigen recognized by the humoral immune system. (PMID: 17203229) Ishikura H. … Nishimura T. (Int. J. Oncol. 2007) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for CLUAP1 Gene

Sources for CLUAP1 Gene

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