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

    Gene ID: 55779, updated on 3-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.1), skin (RPKM 2.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP44 in Genome Data Viewer
    Location:
    3q13.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (113286930..113441514, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116007998..116162657, complement)
    RS_2024_09 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 readthrough (NMD candidate) 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 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?
    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
    		Compare labs

    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

    Potential readthrough

    Included gene: SPICE1

    Readthrough SPICE1-CFAP44

    Readthrough gene: SPICE1-CFAP44, 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
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within microtubule cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nucleus organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    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_2024_08

    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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