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

Summary

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

Location:: 16p13.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (3495427..3539048)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (3522685..3566307)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (3551004..3589048)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S3430 (e-PCR)
- UniSTS:152671

L17877 (e-PCR)
- UniSTS:61334

L17809 (e-PCR)
- UniSTS:39087

SHGC-61133 (e-PCR)
- UniSTS:15561

SHGC-60726 (e-PCR)
- UniSTS:19673

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
located_in centrosome	IEA Inferred from Electronic Annotation 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
is_active_in microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info
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

NG_047131.2 RefSeqGene

Range

10579..48623

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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)