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

Gene ID: 80217, updated on 5-Jan-2022

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
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
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Genomic context

See CFAP43 in Genome Data Viewer
Location:
10q25.1
Exon count:
38
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (104129888..104232364, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105889646..105992122, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene collagen type XVII alpha 1 chain Neighboring gene microRNA 936 Neighboring gene SWI5 dependent homologous recombination repair protein 1 Neighboring gene tropomyosin 3 pseudogene Neighboring gene Sharpr-MPRA regulatory region 1977 Neighboring gene microRNA 609 Neighboring gene Sharpr-MPRA regulatory region 2425 Neighboring gene glutathione S-transferase omega 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
GeneReviews: Not available
Normal pressure hydrocephalus
MedGen: C0020258 OMIM: 236690 GeneReviews: Not available
Compare labs
Spermatogenic failure 19
MedGen: C4539818 OMIM: 617592 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22944, FLJ36006

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in brain development 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
PubMed 
involved_in mucociliary clearance 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
PubMed 
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
PubMed 
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

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

  1. NG_051581.1 RefSeqGene

    Range
    5001..107490
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_025145.7NP_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
    Q8NDM7
    Related
    ENSP00000349568.3, ENST00000357060.8
    Conserved Domains (4) summary
    COG2319
    Location:102506
    WD40; WD40 repeat [General function prediction only]
    pfam02463
    Location:9101655
    SMC_N; RecF/RecN/SMC N terminal domain
    sd00039
    Location:348385
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:344453
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    104129888..104232364 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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