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    CLUAP1 clusterin associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 23059, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CLUAP1provided by HGNC
    Official Full Name
    clusterin associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:19009
    See related
    Ensembl:ENSG00000103351 MIM:616787; AllianceGenome:HGNC:19009
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAP22; IFT38; CFAP22
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 8.8), endometrium (RPKM 6.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3495427..3539048)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3522685..3566307)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3551004..3589048)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10322 Neighboring gene zinc finger protein 597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7135 Neighboring gene N-alpha-acetyltransferase 60, NatF catalytic subunit Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_43328 and experimental_43330 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43334 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43335 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3517275-3517812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3519547-3520264 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43345 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43346 Neighboring gene Sharpr-MPRA regulatory region 11363 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3543048-3543257 Neighboring gene microRNA 6126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10324 Neighboring gene chromosome 16 open reading frame 90 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3551746-3552263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3552264-3552780 Neighboring gene ribosomal protein L18 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3580705-3581205 Neighboring gene uncharacterized LOC101929732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3594423-3594923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10326 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3602829-3603548 Neighboring gene NLR family CARD domain containing 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3603549-3604269 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3604270-3604989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3611863-3612363 Neighboring gene uncharacterized LOC124903632

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. Johnston JJ, et al. Cold Spring Harb Mol Case Stud, 2017 Jul. PMID 28679688, Free PMC Article
    2. Identification of CLUAP1 as a human osteosarcoma tumor-associated antigen recognized by the humoral immune system. Ishikura H, et al. Int J Oncol, 2007 Feb. PMID 17203229
    3. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Soens ZT, et al. Genet Med, 2016 Oct. PMID 26820066, Free PMC Article
    4. Isolation and characterization of a novel gene CLUAP1 whose expression is frequently upregulated in colon cancer. Takahashi M, et al. Oncogene, 2004 Dec 9. PMID 15480429
    5. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. Adam MP, et al. , 1993. PMID 30285347

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of the primary ciliary proteins IFT38 and IFT144 to enhance serum-mediated YAP activation and cell proliferation.
      Title: Identification of the primary ciliary proteins IFT38 and IFT144 to enhance serum-mediated YAP activation and cell proliferation.
    2. Two variants in CLUAP1 were identified through exome-sequence analysis, Chr16:g.3558407T>G, c.338T>G, p.(Met113Arg) and Chr16:g.3570011C>T, c.688C>T, p.(Arg230Ter). he genetic data show that these variants are present in an affected child, are rare in the population, and result in reduced, but not absent, intraflagellar transport.
      Title: Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
    3. Consistent with the knowledge that CLUAP1 plays an important role in cilia function and that cilia are critical to photoreceptor function, our results indicate that hypomorphic mutations in CLUAP1 can result in dysfunctional photoreceptors without systemic abnormalities. This is the first report linking mutations in CLUAP1 to human disease and establishes CLUAP1 as a candidate Leber congenital amaurosis gene
      Title: Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.
    4. inactivation of CLUAP1 may conceivably serve in the future as a novel therapeutic intervention for treatment of colon cancer
      Title: Isolation and characterization of a novel gene CLUAP1 whose expression is frequently upregulated in colon cancer.
    5. CLUAP1 (clusterin-associated protein 1) is highly expressed in osteosarcoma, ovarian, colon, and lung cancers
      Title: Identification of CLUAP1 as a human osteosarcoma tumor-associated antigen recognized by the humoral immune system.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13297, KIAA0643

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axoneme assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in floor plate formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intraciliary anterograde transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary base IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
    		  
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    part_of intraciliary transport particle A IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of intraciliary transport particle B IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of intraciliary transport particle B IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    clusterin-associated protein 1
    Names
    cilia and flagella associated protein 22
    flagellar associated protein 22, qilin-like protein, homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047131.2 RefSeqGene

      Range
      10579..48623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330454.2 → NP_001317383.1  clusterin-associated protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3)
      Source sequence(s)
      AC004224, AC004494, BQ446386
      Consensus CDS
      CCDS81942.1
      UniProtKB/TrEMBL
      I3L3S9, J3KNW5
      Related
      ENSP00000344392.5, ENST00000341633.9

    2. NM_015041.3 → NP_055856.1  clusterin-associated protein 1 isoform 1

      See identical proteins and their annotated locations for NP_055856.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB089691, AC004494, AK023319, BQ446386, T49451
      Consensus CDS
      CCDS32381.1
      UniProtKB/Swiss-Prot
      O75138, Q65ZA3, Q96AJ1, Q9H8R4, Q9H8T1
      UniProtKB/TrEMBL
      I3L3S9
      Related
      ENSP00000460850.1, ENST00000576634.6
      Conserved Domains (2) summary
      pfam06409
      Location:210 → 278
      NPIP; Nuclear pore complex interacting protein (NPIP)
      pfam10234
      Location:19 → 278
      Cluap1; Clusterin-associated protein-1

    3. NM_024793.3 → NP_079069.1  clusterin-associated protein 1 isoform 2

      See identical proteins and their annotated locations for NP_079069.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame exon in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC004494, AK023319, AK023359, BQ446386, T49451
      Consensus CDS
      CCDS45398.1
      UniProtKB/Swiss-Prot
      Q96AJ1
      Related
      ENSP00000460889.1, ENST00000572600.5
      Conserved Domains (1) summary
      pfam06409
      Location:44 → 112
      NPIP; Nuclear pore complex interacting protein (NPIP)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      3495427..3539048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433797.1 → XP_047289753.1  clusterin-associated protein 1 isoform X1

    2. XM_047433800.1 → XP_047289756.1  clusterin-associated protein 1 isoform X5

    3. XM_047433798.1 → XP_047289754.1  clusterin-associated protein 1 isoform X2

    4. XM_047433799.1 → XP_047289755.1  clusterin-associated protein 1 isoform X3

    5. XM_017023073.2 → XP_016878562.1  clusterin-associated protein 1 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      3522685..3566307
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379846.1 → XP_054235821.1  clusterin-associated protein 1 isoform X1

    2. XM_054379850.1 → XP_054235825.1  clusterin-associated protein 1 isoform X5

    3. XM_054379847.1 → XP_054235822.1  clusterin-associated protein 1 isoform X2

    4. XM_054379849.1 → XP_054235824.1  clusterin-associated protein 1 isoform X4

    5. XM_054379848.1 → XP_054235823.1  clusterin-associated protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AJ1.4 GenPept UniProtKB/Swiss-Prot:Q96AJ1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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