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CFAP44 cilia and flagella associated protein 44 [ Homo sapiens (human) ]

Gene ID: 55779, updated on 5-Mar-2024

Summary

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Official Symbol
CFAP44provided by HGNC
Official Full Name
cilia and flagella associated protein 44provided by HGNC
Primary source
HGNC:HGNC:25631
See related
Ensembl:ENSG00000206530 MIM:617559; AllianceGenome:HGNC:25631
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
WDR52; SPGF20
Summary
Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton organization. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Implicated in spermatogenic failure 20. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 3.1), skin (RPKM 2.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3q13.2
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (113286930..113441514, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116007998..116162657, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113005777..113160361, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:112930765-112931416 Neighboring gene uncharacterized LOC124909409 Neighboring gene BOC cell adhesion associated, oncogene regulated Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:112983897-112984515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:112991758-112992620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20250 Neighboring gene SPICE1-CFAP44 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:113031132-113031687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:113085321-113085822 Neighboring gene Sharpr-MPRA regulatory region 3247 Neighboring gene RABGGTB pseudogene 1 Neighboring gene PHF5A pseudogene 2 Neighboring gene CFAP44 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20251 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113176937-113177646 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113177647-113178356 Neighboring gene microRNA 8076 Neighboring gene spindle and centriole associated protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20260 Neighboring gene SID1 transmembrane family member 1 Neighboring gene SIDT1 antisense RNA 1

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. A novel gene, cilia flagella associated protein 44, encoding an enzyme cleaving FtsZ and tubulin contributes to the regulation of secretory pathway. Tanaka AS, et al. Biochem Biophys Res Commun, 2017 Nov 4. PMID 28887034
  2. The rs13064411 polymorphism in the WDR52 gene, associated with PCSK9 levels, modifies statin-induced changes in serum total and LDL cholesterol levels. de Keyser CE, et al. Pharmacogenet Genomics, 2015 Mar. PMID 25602530
  3. NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF). Wu H, et al. Reprod Biomed Online, 2019 May. PMID 30904354
  4. Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF). Sha YW, et al. Reprod Sci, 2019 Jan. PMID 29277146
  5. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Coutton C, et al. Nat Commun, 2018 Feb 15. PMID 29449551, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. important cause of multiple morphological abnormalities of the sperm flagellum in the Chinese population
    Title: NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF).
  2. Study demonstrated that biallelic mutations in CFAP44 and CFAP43 cause multiple morphological abnormalities of the sperm flagella (MMAF). These results provide researchers with a new insight to understand the genetic etiology of MMAF and to identify new loci for genetic counselling of MMAF.
    Title: Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).
  3. demonstrate that CFAP43 and CFAP44 have a similar structure with a unique axonemal localization and are necessary to produce functional flagella in species ranging from Trypanosoma to human
    Title: Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
  4. biallelic mutations in either CFAP43 or CFAP44 can cause sperm flagellar abnormalities and impair sperm motility.
    Title: Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.
  5. Results show that the rs13064411 polymorphism in the WDR52 gene was associated with a modified effect of statin therapy on serum LDL and total cholesterol levels.
    Title: The rs13064411 polymorphism in the WDR52 gene, associated with PCSK9 levels, modifies statin-induced changes in serum total and LDL cholesterol levels.
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
Spermatogenic failure 20
MedGen: C4539824 OMIM: 617593 GeneReviews: Not available
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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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: SPICE1

Readthrough LOC127898559

Readthrough gene: LOC127898559, Included gene: SPICE1

Homology

Clone Names

  • FLJ11142, MGC126631, MGC142113, DKFZp781C082

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables peptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within microtubule cytoskeleton organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sperm axoneme assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cilia- and flagella-associated protein 44
Names
WD repeat domain 52
WD repeat-containing protein 52

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)

  1. NM_001164496.2 → NP_001157968.1  cilia- and flagella-associated protein 44 isoform 1

    See identical proteins and their annotated locations for NP_001157968.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC026329, AK002004, AL133606, BC113553, BM978031, DB050626
    Consensus CDS
    CCDS54624.1
    UniProtKB/Swiss-Prot
    Q96MT7
    Related
    ENSP00000377428.2, ENST00000393845.9
    Conserved Domains (3) summary
    sd00039
    Location:371 → 419
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:219 → 599
    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 ...
    cl25732
    Location:1557 → 1833
    SMC_N; RecF/RecN/SMC N terminal domain

  2. NM_018338.3 → NP_060808.2  cilia- and flagella-associated protein 44 isoform 2

    See identical proteins and their annotated locations for NP_060808.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 3' splice pattern with a distinct 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a substantially shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC026348, AK056472, BC113553, DB050626
    Consensus CDS
    CCDS2972.1
    UniProtKB/Swiss-Prot
    Q96MT7
    Related
    ENSP00000295868.2, ENST00000295868.6
    Conserved Domains (3) summary
    COG2319
    Location:118 → 605
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:371 → 419
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:219 → 599
    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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    113286930..113441514 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    116007998..116162657 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96MT7.2 GenPept UniProtKB/Swiss-Prot:Q96MT7

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