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Aliases for CFAP61 Gene

Aliases for CFAP61 Gene

  • Cilia And Flagella Associated Protein 61 2 3 5
  • C20orf26 3 4
  • Cilia- And Flagella-Associated Protein 61 3
  • Chromosome 20 Open Reading Frame 26 2
  • Hypothetical Protein LOC26074 2
  • DJ1002M8.3 3
  • DJ1178H5.4 3
  • CaM-IP3 3

External Ids for CFAP61 Gene

Previous HGNC Symbols for CFAP61 Gene

  • C20orf26

Summaries for CFAP61 Gene

GeneCards Summary for CFAP61 Gene

CFAP61 (Cilia And Flagella Associated Protein 61) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity.

UniProtKB/Swiss-Prot for CFAP61 Gene

  • May regulate cilium motility through its role in the assembly of the axonemal radial spokes.

Additional gene information for CFAP61 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP61 Gene

Genomics for CFAP61 Gene

GeneHancer (GH) Regulatory Elements for CFAP61 Gene

Promoters and enhancers for CFAP61 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J020051 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 656.9 0.0 -16 2.1 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CFAP61 CRNKL1 GC20P020024 GC20M020024
GH20J020016 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10 -34.1 -34056 4.1 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 NAA20 CRNKL1 CFAP61 LOC105372553
GH20J020451 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +400.0 400035 1.3 PKNOX1 MXI1 USF1 FOXA2 JUN MAX SIN3A EBF1 BATF HIC1 INSM1 CFAP61 NAA20 ENSG00000225417 GC20P020439 GC20P020419 GC20M020616 RALGAPA2
GH20J020180 Enhancer 0.3 ENCODE 17.7 +129.0 129025 1.3 ZNF146 CFAP61 ENSG00000225417 ENSG00000241054 GC20M020024
GH20J020317 Enhancer 0.5 ENCODE 10.6 +265.1 265136 1.2 ZNF687 POLR2A EBF1 MEF2B MLLT1 DPF2 SPI1 GC20M020316 RN7SL690P GC20M020317 ENSG00000225417 CFAP61 GC20P020325 GC20M020024
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP61 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP61 Gene

Genomic Locations for CFAP61 Gene
chr20:20,052,514-20,360,714
(GRCh38/hg38)
Size:
308,201 bases
Orientation:
Plus strand
chr20:20,033,158-20,341,346
(GRCh37/hg19)
Size:
308,189 bases
Orientation:
Plus strand

Genomic View for CFAP61 Gene

Genes around CFAP61 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP61 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP61 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP61 Gene

Proteins for CFAP61 Gene

  • Protein details for CFAP61 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHU2-CFA61_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 61
    Protein Accession:
    Q8NHU2
    Secondary Accessions:
    • A6NHA1
    • Q5JXV4
    • Q5TE18
    • Q8N5R9
    • Q96M59
    • Q9BQL2
    • Q9H127
    • Q9H128
    • Q9NQH4
    • Q9UFV8
    • Q9Y4V7

    Protein attributes for CFAP61 Gene

    Size:
    1237 amino acids
    Molecular mass:
    141349 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI42114.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP61 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP61 Gene

Post-translational modifications for CFAP61 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP61 Gene

Domains & Families for CFAP61 Gene

Gene Families for CFAP61 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CFAP61 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CFAP61: view

No data available for UniProtKB/Swiss-Prot for CFAP61 Gene

Function for CFAP61 Gene

Molecular function for CFAP61 Gene

UniProtKB/Swiss-Prot Function:
May regulate cilium motility through its role in the assembly of the axonemal radial spokes.

Phenotypes From GWAS Catalog for CFAP61 Gene

genes like me logo Genes that share phenotypes with CFAP61: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP61

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP61 Gene

Localization for CFAP61 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP61 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFAP61 gene
Compartment Confidence
cytoskeleton 4
plasma membrane 2
nucleus 2
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CFAP61 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001536 colocalizes_with radial spoke stalk ISS --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005930 axoneme ISS --
GO:0031514 motile cilium ISS --
genes like me logo Genes that share ontologies with CFAP61: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP61 Gene

Pathways & Interactions for CFAP61 Gene

SuperPathways for CFAP61 Gene

No Data Available

Interacting Proteins for CFAP61 Gene

Gene Ontology (GO) - Biological Process for CFAP61 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement ISS --
GO:0044782 cilium organization ISS --
genes like me logo Genes that share ontologies with CFAP61: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP61 Gene

Drugs & Compounds for CFAP61 Gene

No Compound Related Data Available

Transcripts for CFAP61 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP61

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP61 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - - - - - - - -
SP2: -
SP3:
SP4: - -
SP5: -

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b
SP1:
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for CFAP61 Gene

GeneLoc Exon Structure for
CFAP61
ECgene alternative splicing isoforms for
CFAP61

Expression for CFAP61 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP61 Gene

Protein differential expression in normal tissues from HIPED for CFAP61 Gene

This gene is overexpressed in Esophagus (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP61 Gene



Protein tissue co-expression partners for CFAP61 Gene

NURSA nuclear receptor signaling pathways regulating expression of CFAP61 Gene:

CFAP61

Evidence on tissue expression from TISSUES for CFAP61 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CFAP61: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP61 Gene

Orthologs for CFAP61 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP61 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C20orf26 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C24H20orf26 33
  • 87.25 (n)
C20orf26 34
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C13H20orf26 33
  • 82.39 (n)
C20orf26 34
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1311519 33
  • 80.67 (n)
mouse
(Mus musculus)
Mammalia 4930529M08Rik 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
-- 34
  • 48 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia C20orf26 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3H20ORF26 33
  • 66.93 (n)
C20orf26 34
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C20orf26 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c20orf26 33
  • 63.72 (n)
zebrafish
(Danio rerio)
Actinopterygii si:zfos-223e1.2 33
  • 57.13 (n)
C20H20orf26 (2 of 2) 34
  • 48 (a)
OneToMany
C20orf26 (1 of 2) 34
  • 42 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30275 34
  • 18 (a)
OneToMany
CG30268 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for CFAP61 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 CFAP61 Gene

ENSEMBL:
Gene Tree for CFAP61 (if available)
TreeFam:
Gene Tree for CFAP61 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP61: view image

Paralogs for CFAP61 Gene

No data available for Paralogs for CFAP61 Gene

Variants for CFAP61 Gene

Sequence variations from dbSNP and Humsavar for CFAP61 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1057519885 likely-pathogenic, Malignant melanoma of skin, Squamous cell carcinoma of the skin 20,052,443(+) G/A upstream_transcript_variant
rs1000009642 -- 20,149,494(+) G/T intron_variant
rs1000018099 -- 20,119,696(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000031970 -- 20,067,407(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000049185 -- 20,113,889(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP61 Gene

Variant ID Type Subtype PubMed ID
dgv7516n54 CNV loss 21841781
esv1197515 CNV insertion 17803354
esv1752400 CNV insertion 17803354
esv2009660 CNV deletion 18987734
esv23332 CNV loss 19812545
esv2659411 CNV deletion 23128226
esv2668197 CNV deletion 23128226
esv2671728 CNV deletion 23128226
esv2678599 CNV deletion 23128226
esv2722278 CNV deletion 23290073
esv2722279 CNV deletion 23290073
esv2722280 CNV deletion 23290073
esv275044 CNV loss 21479260
esv3303694 CNV mobile element insertion 20981092
esv3309664 CNV mobile element insertion 20981092
esv3328331 CNV duplication 20981092
esv3413279 CNV insertion 20981092
esv3429685 CNV duplication 20981092
esv3567920 CNV loss 25503493
esv3645470 CNV loss 21293372
esv3645471 CNV gain 21293372
esv3645472 CNV loss 21293372
esv3645473 CNV gain 21293372
esv3645474 CNV loss 21293372
esv3645475 CNV gain 21293372
esv3645477 CNV loss 21293372
esv3645478 CNV gain 21293372
esv3893320 CNV loss 25118596
nsv1125718 CNV tandem duplication 24896259
nsv1128827 CNV duplication 24896259
nsv1133500 CNV deletion 24896259
nsv1138926 CNV deletion 24896259
nsv1138927 CNV deletion 24896259
nsv3320 CNV insertion 18451855
nsv3322 CNV deletion 18451855
nsv517467 CNV loss 19592680
nsv525682 CNV loss 19592680
nsv525824 CNV loss 19592680
nsv828699 CNV loss 20364138
nsv952997 CNV deletion 24416366
nsv964380 CNV duplication 23825009

Variation tolerance for CFAP61 Gene

Residual Variation Intolerance Score: 80.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.72; 78.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP61 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP61

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP61 Gene

Disorders for CFAP61 Gene

Additional Disease Information for CFAP61

No disorders were found for CFAP61 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP61 Gene

Publications for CFAP61 Gene

  1. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 2 3 4 58
  2. A conserved CaM- and radial spoke associated complex mediates regulation of flagellar dynein activity. (PMID: 17967944) Dymek EE … Smith EF (The Journal of cell biology 2007) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Diagnostic exome sequencing in persons with severe intellectual disability. (PMID: 23033978) de Ligt J … Vissers LE (The New England journal of medicine 2012) 4 58

Products for CFAP61 Gene

Sources for CFAP61 Gene

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