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Aliases for CFAP44 Gene

Aliases for CFAP44 Gene

  • Cilia And Flagella Associated Protein 44 2 3 5
  • WD Repeat-Containing Protein 52 3 4
  • WD Repeat Domain 52 2 3
  • WDR52 3 4

External Ids for CFAP44 Gene

Previous HGNC Symbols for CFAP44 Gene

  • WDR52

Summaries for CFAP44 Gene

GeneCards Summary for CFAP44 Gene

CFAP44 (Cilia And Flagella Associated Protein 44) is a Protein Coding gene. GO annotations related to this gene include binding.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP44 Gene

Genomics for CFAP44 Gene

Genomic Location for CFAP44 Gene

Chromosome:
3
Start:
113,286,930 bp from pter
End:
113,445,190 bp from pter
Size:
158,261 bases
Orientation:
Minus strand

Genomic View for CFAP44 Gene

Genes around CFAP44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP44 Gene

No data available for Regulatory Elements for CFAP44 Gene

Proteins for CFAP44 Gene

  • Protein details for CFAP44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MT7-CFA44_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 44
    Protein Accession:
    Q96MT7

    Protein attributes for CFAP44 Gene

    Size:
    982 amino acids
    Molecular mass:
    111729 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CFAP44 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP44 Gene

Proteomics data for CFAP44 Gene at MOPED

Post-translational modifications for CFAP44 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP44 Gene

Domains & Families for CFAP44 Gene

Gene Families for CFAP44 Gene

Protein Domains for CFAP44 Gene

Suggested Antigen Peptide Sequences for CFAP44 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96MT7

UniProtKB/Swiss-Prot:

CFA44_HUMAN :
  • Belongs to the CFAP44 family.
  • Contains 9 WD repeats.
Family:
  • Belongs to the CFAP44 family.
Similarity:
  • Contains 9 WD repeats.
genes like me logo Genes that share domains with CFAP44: view

Function for CFAP44 Gene

genes like me logo Genes that share phenotypes with CFAP44: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP44 Gene

Localization for CFAP44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP44 Gene

Cell projection, cilium, flagellum.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CFAP44 Gene

Pathways & Interactions for CFAP44 Gene

SuperPathways for CFAP44 Gene

No Data Available

Interacting Proteins for CFAP44 Gene

Gene Ontology (GO) - Biological Process for CFAP44 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP44 Gene

Drugs & Compounds for CFAP44 Gene

(1) Drugs for CFAP44 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
hmg coa reductase inhibitors Pharma 0
genes like me logo Genes that share compounds with CFAP44: view

Transcripts for CFAP44 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP44 Gene

No ASD Table

Relevant External Links for CFAP44 Gene

GeneLoc Exon Structure for
CFAP44
ECgene alternative splicing isoforms for
CFAP44

Expression for CFAP44 Gene

mRNA expression in normal human tissues for CFAP44 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CFAP44 Gene

This gene is overexpressed in Platelet (51.6) and Plasma (14.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP44 Gene



genes like me logo Genes that share expression patterns with CFAP44: view

Protein tissue co-expression partners for CFAP44 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CFAP44 Gene

Orthologs for CFAP44 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP44 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WDR52 35
  • 85.85 (n)
  • 82.48 (a)
WDR52 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDR52 35
  • 86.88 (n)
  • 82.77 (a)
WDR52 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr52 35
  • 79.1 (n)
  • 76.96 (a)
Cfap44 16
Wdr52 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WDR52 35
  • 98.94 (n)
  • 98.56 (a)
WDR52 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr52 35
  • 78.53 (n)
  • 77.33 (a)
oppossum
(Monodelphis domestica)
Mammalia WDR52 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR52 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR52 35
  • 62.95 (n)
  • 55.02 (a)
WDR52 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497083 35
  • 58.04 (n)
  • 54.69 (a)
zebrafish
(Danio rerio)
Actinopterygii WDR52 36
  • 39 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006735 35
  • 43.68 (n)
  • 33.77 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG34124 35
  • 43.45 (n)
  • 30.23 (a)
CG34124 36
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for CFAP44:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFAP44 Gene

ENSEMBL:
Gene Tree for CFAP44 (if available)
TreeFam:
Gene Tree for CFAP44 (if available)

Paralogs for CFAP44 Gene

No data available for Paralogs for CFAP44 Gene

Variants for CFAP44 Gene

Sequence variations from dbSNP and Humsavar for CFAP44 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_053435 -
VAR_062105 -
rs735 -- 113,335,461(+) TCTAC(A/G)TAGCG intron-variant
rs4251 -- 113,335,498(+) CTGTA(C/T)ATGTG intron-variant
rs712530 -- 113,297,109(+) CTCAA(C/T)GTTCC intron-variant

Variation tolerance for CFAP44 Gene

Residual Variation Intolerance Score: 74.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.89; 96.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP44 Gene

HapMap Linkage Disequilibrium report
CFAP44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CFAP44 Gene

Disorders for CFAP44 Gene

Relevant External Links for CFAP44

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP44

No disorders were found for CFAP44 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP44 Gene

Publications for CFAP44 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. The rs13064411 polymorphism in the WDR52 gene, associated with PCSK9 levels, modifies statin-induced changes in serum total and LDL cholesterol levels. (PMID: 25602530) de Keyser C.E. … Stricker B.H. (Pharmacogenet. Genomics 2015) 3
  4. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (PMID: 26460568) Johnson-Kerner B.L. … Wichterle H. (PLoS ONE 2015) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for CFAP44 Gene

Sources for CFAP44 Gene

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