CFAP43 cilia and flagella associated protein 43 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFAP43provided by HGNC
Official Full Name: cilia and flagella associated protein 43provided by HGNC
Primary source: HGNC:HGNC:26684
See related: Ensembl:ENSG00000197748 MIM:617558; AllianceGenome:HGNC:26684
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: WDR96; HYDNP1; SPGF19; C10orf79; bA373N18.2
Summary: This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]
Expression: Biased expression in testis (RPKM 23.1) and lung (RPKM 3.4) See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.1

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (104129888..104232364, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (105017999..105120456, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (105889646..105992122, complement)

Chromosome 10 - NC_000010.11 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: 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?

Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.
Title: Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.
Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella.
Title: Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella.
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).
A loss of function mutation was identified in a family with normal-pressure hydrocephalus.
Title: Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.
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).
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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
Normal pressure hydrocephalus MedGen: C0020258 OMIM: 236690 GeneReviews: Not available	not available
Spermatogenic failure 19 MedGen: C4539818 OMIM: 617592 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH15646 (e-PCR)
- UniSTS:91178

REN65252 (e-PCR)
- UniSTS:390052

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cerebrospinal fluid circulation	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in mucociliary clearance	IEA Inferred from Electronic Annotation more info
involved_in nucleus organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of cilium beat frequency	ISS Inferred from Sequence or Structural Similarity more info
involved_in sperm axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in sperm axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm axoneme assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in 9+2 motile cilium	IEA Inferred from Electronic Annotation more info
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cilia- and flagella-associated protein 43

Names: WD repeat domain 96; WD repeat-containing protein 96; WD repeat-containing protein C10orf79

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_051581.1 RefSeqGene

Range

5014..107490

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_025145.7 → NP_079421.5 cilia- and flagella-associated protein 43

See identical proteins and their annotated locations for NP_079421.5

Status: REVIEWED

Source sequence(s)

AL139341, AL357336

Consensus CDS

CCDS31281.1

UniProtKB/Swiss-Prot

Q8N9Z8, Q8NDM7, Q8NE17, Q9H085, Q9H5W3

Related

ENSP00000349568.3, ENST00000357060.8

Conserved Domains (4) summary

COG2319
Location:102 → 506

WD40; WD40 repeat [General function prediction only]

pfam02463
Location:910 → 1655

SMC_N; RecF/RecN/SMC N terminal domain

sd00039
Location:348 → 385

7WD40; WD40 repeat [structural motif]

cl02567
Location:344 → 453

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 ...