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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
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Genomic context

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See CLUAP1 in Genome Data Viewer
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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