CFAP52 cilia and flagella associated protein 52 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFAP52provided by HGNC
Official Full Name: cilia and flagella associated protein 52provided by HGNC
Primary source: HGNC:HGNC:16053
See related: Ensembl:ENSG00000166596 MIM:609804; AllianceGenome:HGNC:16053
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HTX10; WDR16; WDRPUH
Summary: WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]
Expression: Biased expression in testis (RPKM 8.3), lung (RPKM 3.0) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (9576642..9645554)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (9484338..9553284)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (9479959..9546764)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice.
Title: The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice.
WDRPUH is a novel WD-repeat-containing protein highly expressed in human hepatocellular carcinoma and involved in cell proliferation
Title: WDRPUH, a novel WD-repeat-containing protein, is highly expressed in human hepatocellular carcinoma and involved in cell proliferation.

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

Associated conditions

Description	Tests
Heterotaxy, visceral, 10, autosomal, with male infertility MedGen: C5562072 OMIM: 619607 GeneReviews: Not available	not available

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

D10Bir11 (e-PCR), detects polymorphism
- UniSTS:141478

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 establishment of left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in microtubule sliding	IEA Inferred from Electronic Annotation more info
involved_in single fertilization	IEA Inferred from Electronic Annotation more info
involved_in spermatid development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in 9+2 motile cilium	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in axonemal B tubule inner sheath	ISS Inferred from Sequence or Structural Similarity more info
located_in axonemal microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in axoneme	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm midpiece	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cilia- and flagella-associated protein 52

Names: WD repeat domain 16; WD repeat-containing protein 16; WD40-repeat protein up-regulated in HCC; WD40-repeat protein upregulated in HCC

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.

mRNA and Protein(s)

NM_001080556.2 → NP_001074025.1 cilia- and flagella-associated protein 52 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1, which results in a shorter protein (isoform C), compared to isoform B.

Source sequence(s)

AB065281, AK074435

Consensus CDS

CCDS42262.1

UniProtKB/Swiss-Prot

Q8N1V2

Related

ENSP00000379521.3, ENST00000396219.7

Conserved Domains (3) summary

COG2319
Location:222 → 549

WD40; WD40 repeat [General function prediction only]

sd00039
Location:352 → 391

7WD40; WD40 repeat [structural motif]

cl02567
Location:278 → 547

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_145054.5 → NP_659491.4 cilia- and flagella-associated protein 52 isoform b

See identical proteins and their annotated locations for NP_659491.4

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (B).

Source sequence(s)

AB065281, DB040461

Consensus CDS

CCDS11149.2

UniProtKB/Swiss-Prot

B2RDU7, Q5DX23, Q8N1V2, Q8TC73, Q8TCI3

Related

ENSP00000339449.5, ENST00000352665.10

Conserved Domains (4) summary

smart00320
Location:100 → 141

WD40; WD40 repeats

COG2319
Location:277 → 617

WD40; WD40 repeat [General function prediction only]

sd00039
Location:420 → 459

7WD40; WD40 repeat [structural motif]

cl02567
Location:346 → 615

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

9576642..9645554

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435437.1 → XP_047291393.1 cilia- and flagella-associated protein 52 isoform X1
XM_047435439.1 → XP_047291395.1 cilia- and flagella-associated protein 52 isoform X3
XM_047435438.1 → XP_047291394.1 cilia- and flagella-associated protein 52 isoform X2
XM_047435440.1 → XP_047291396.1 cilia- and flagella-associated protein 52 isoform X5
XM_017024227.2 → XP_016879716.1 cilia- and flagella-associated protein 52 isoform X4
XM_047435441.1 → XP_047291397.1 cilia- and flagella-associated protein 52 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

9484338..9553284

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315171.1 → XP_054171146.1 cilia- and flagella-associated protein 52 isoform X1
XM_054315173.1 → XP_054171148.1 cilia- and flagella-associated protein 52 isoform X3
XM_054315172.1 → XP_054171147.1 cilia- and flagella-associated protein 52 isoform X2
XM_054315175.1 → XP_054171150.1 cilia- and flagella-associated protein 52 isoform X5
XM_054315174.1 → XP_054171149.1 cilia- and flagella-associated protein 52 isoform X4
XM_054315176.1 → XP_054171151.1 cilia- and flagella-associated protein 52 isoform X6