Aliases for CFAP58 Gene

Aliases for CFAP58 Gene

  • Cilia And Flagella Associated Protein 58 2 3 5
  • Cilia- And Flagella-Associated Protein 58 3 4
  • Coiled-Coil Domain-Containing Protein 147 3 4
  • Coiled-Coil Domain Containing 147 2 3
  • C10orf80 3 4
  • CCDC147 3 4
  • Chromosome 10 Open Reading Frame 80 2
  • BA127L20.4 (Novel Protein) 3
  • BA127L20.5 (Novel Protein) 3
  • BA127L20.4 3
  • BA127L20.5 3
  • BA554P13.1 3

External Ids for CFAP58 Gene

Previous HGNC Symbols for CFAP58 Gene

  • C10orf80
  • CCDC147

Summaries for CFAP58 Gene

GeneCards Summary for CFAP58 Gene

CFAP58 (Cilia And Flagella Associated Protein 58) is a Protein Coding gene. Diseases associated with CFAP58 include Melanoma, Cutaneous Malignant 1. An important paralog of this gene is CCDC146.

Additional gene information for CFAP58 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP58 Gene

Genomics for CFAP58 Gene

GeneHancer (GH) Regulatory Elements for CFAP58 Gene

Promoters and enhancers for CFAP58 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP58 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP58

Genomic Locations for CFAP58 Gene

Genomic Locations for CFAP58 Gene
chr10:104,338,558-104,455,102
(GRCh38/hg38)
Size:
116,545 bases
Orientation:
Plus strand
chr10:106,113,522-106,214,848
(GRCh37/hg19)
Size:
101,327 bases
Orientation:
Plus strand

Genomic View for CFAP58 Gene

Genes around CFAP58 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP58 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP58 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP58 Gene

Proteins for CFAP58 Gene

  • Protein details for CFAP58 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T655-CFA58_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 58
    Protein Accession:
    Q5T655
    Secondary Accessions:
    • D3DRA6
    • Q8NA27

    Protein attributes for CFAP58 Gene

    Size:
    872 amino acids
    Molecular mass:
    103417 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CFAP58 Gene

Post-translational modifications for CFAP58 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP58 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFAP58 Gene

Domains & Families for CFAP58 Gene

Gene Families for CFAP58 Gene

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

Protein Domains for CFAP58 Gene

Blocks:
  • Protein kinase PKN/PRK1, effector
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP58 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 147 (CC147_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T655

UniProtKB/Swiss-Prot:

CFA58_HUMAN :
  • Belongs to the CFAP58 family.
Family:
  • Belongs to the CFAP58 family.
genes like me logo Genes that share domains with CFAP58: view

Function for CFAP58 Gene

Phenotypes From GWAS Catalog for CFAP58 Gene

Gene Ontology (GO) - Molecular Function for CFAP58 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CFAP58: view
genes like me logo Genes that share phenotypes with CFAP58: view

Animal Model Products

miRNA for CFAP58 Gene

miRTarBase miRNAs that target CFAP58

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP58 Gene

Localization for CFAP58 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP58 Gene

Cell projection, cilium.

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 CFAP58 gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFAP58 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP58: view

Pathways & Interactions for CFAP58 Gene

PathCards logo

SuperPathways for CFAP58 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFAP58 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP58 Gene

Drugs & Compounds for CFAP58 Gene

No Compound Related Data Available

Transcripts for CFAP58 Gene

mRNA/cDNA for CFAP58 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP58 Gene

No ASD Table

Relevant External Links for CFAP58 Gene

GeneLoc Exon Structure for
CFAP58

Expression for CFAP58 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFAP58 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CFAP58 Gene

This gene is overexpressed in Nasal epithelium (34.4), Lavage (17.2), and Platelet (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP58 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP58

genes like me logo Genes that share expression patterns with CFAP58: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP58 Gene

Orthologs for CFAP58 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP58 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC147 31 30
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC147 31 30
  • 89.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC147 31 30
  • 89.02 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc147 30
  • 84.36 (n)
mouse
(Mus musculus)
Mammalia Ccdc147 31 30
  • 83.96 (n)
OneToOne
Cfap58 17
oppossum
(Monodelphis domestica)
Mammalia CCDC147 31
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 80 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves CCDC147 31 30
  • 72.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC147 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc147 30
  • 72.31 (n)
Str.17238 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.32243 30
zebrafish
(Danio rerio)
Actinopterygii ccdc147 31 30
  • 65.65 (n)
OneToOne
Dr.18541 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003679 30
  • 47.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5882 31 30
  • 43.21 (n)
ManyToMany
Ory 31
  • 24 (a)
ManyToMany
CG6059 31
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9178 31
  • 63 (a)
OneToOne
Cin.4096 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4096 30
Species where no ortholog for CFAP58 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 CFAP58 Gene

ENSEMBL:
Gene Tree for CFAP58 (if available)
TreeFam:
Gene Tree for CFAP58 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP58: view image

Paralogs for CFAP58 Gene

Paralogs for CFAP58 Gene

genes like me logo Genes that share paralogs with CFAP58: view

Variants for CFAP58 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP58 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs11192036 - p.Ser496Thr
rs7087328 - p.Gln804His

Additional dbSNP identifiers (rs#s) for CFAP58 Gene

Structural Variations from Database of Genomic Variants (DGV) for CFAP58 Gene

Variant ID Type Subtype PubMed ID
esv2112142 CNV deletion 18987734
esv2136408 CNV deletion 18987734
esv2740373 CNV deletion 23290073
esv3546787 CNV deletion 23714750
nsv1144515 CNV deletion 24896259
nsv25421 CNV deletion 16902084

Variation tolerance for CFAP58 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.89; 89.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP58 Gene

Human Gene Mutation Database (HGMD)
CFAP58
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP58

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP58 Gene

Disorders for CFAP58 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CFAP58 Gene - From: DISEASES

Disorder Aliases PubMed IDs
melanoma, cutaneous malignant 1
  • melanoma, cutaneous malignant, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CFAP58

genes like me logo Genes that share disorders with CFAP58: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP58 Gene

Publications for CFAP58 Gene

  1. 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 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 54
  4. Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer. (PMID: 26762739) Liu Y … Spitz MR (Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2016) 3 54
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 54

Products for CFAP58 Gene

Sources for CFAP58 Gene