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Aliases for CFAP157 Gene

Aliases for CFAP157 Gene

  • Cilia And Flagella Associated Protein 157 2 3 5
  • C9orf117 3 4
  • Cilia- And Flagella-Associated Protein 157 3
  • Chromosome 9 Open Reading Frame 117 2

External Ids for CFAP157 Gene

Previous HGNC Symbols for CFAP157 Gene

  • C9orf117

Summaries for CFAP157 Gene

GeneCards Summary for CFAP157 Gene

CFAP157 (Cilia And Flagella Associated Protein 157) is a Protein Coding gene.

UniProtKB/Swiss-Prot for CFAP157 Gene

  • Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility. May be required to suppress the formation of supernumerary axonemes and ensure a correct ultrastructure.

Additional gene information for CFAP157 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 CFAP157 Gene

Genomics for CFAP157 Gene

GeneHancer (GH) Regulatory Elements for CFAP157 Gene

Promoters and enhancers for CFAP157 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
GH09J127707 Enhancer 0.7 ENCODE 650.7 +0.9 879 0.2 BCOR CTCF PKNOX1 PTBP1 ESRRA SIN3A ZMYM3 RAD21 ADNP ZNF444 CFAP157 PIR55229 PTRH1
GH09J127706 Enhancer 0.6 ENCODE 650.7 0.0 -1 0.2 FOXA2 RFX1 FOXA3 RFX5 GABPA POLR2A RFX3 ZFP91 CFAP157 PTRH1 ENSG00000279571
GH09J127577 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.8 -127.5 -127513 3.5 PKNOX1 FOXA2 MLX ARID4B SIN3A SLC30A9 ELK1 ZNF143 FOS DEK FAM129B STXBP1 CFAP157 TTC16 ENG LOC102723566 RPL12 GC09M127606
GH09J127582 Enhancer 1.3 Ensembl ENCODE dbSUPER 11 -122.1 -122083 4.2 PKNOX1 RB1 ZSCAN4 ARID4B STAT5A BRCA1 THRB RAD21 POLR3A ARID2 FPGS ZNF79 LOC102723566 PTRH1 TTC16 CFAP157 ST6GALNAC4 PIP5KL1 ENG RPL12
GH09J127589 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.4 -116.9 -116887 0.6 ARID4B RAD21 RFX5 ARID2 ZNF366 ZNF143 RCOR1 IKZF2 THAP11 DEK TTC16 PTRH1 CFAP157 STXBP1 GC09M127606
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP157 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP157 Gene

Genomic Locations for CFAP157 Gene
chr9:127,706,988-127,716,002
(GRCh38/hg38)
Size:
9,015 bases
Orientation:
Plus strand
chr9:130,469,268-130,478,281
(GRCh37/hg19)
Size:
9,014 bases
Orientation:
Plus strand

Genomic View for CFAP157 Gene

Genes around CFAP157 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP157 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP157 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP157 Gene

Proteins for CFAP157 Gene

  • Protein details for CFAP157 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JU67-CF157_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 157
    Protein Accession:
    Q5JU67
    Secondary Accessions:
    • A5D8T9

    Protein attributes for CFAP157 Gene

    Size:
    520 amino acids
    Molecular mass:
    60533 Da
    Quaternary structure:
    • Interacts with TUBB and TUBA4A. Interacts with CEP350.

    Alternative splice isoforms for CFAP157 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP157 Gene

Post-translational modifications for CFAP157 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP157 Gene

No data available for DME Specific Peptides for CFAP157 Gene

Domains & Families for CFAP157 Gene

Gene Families for CFAP157 Gene

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

Protein Domains for CFAP157 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5JU67

UniProtKB/Swiss-Prot:

CF157_HUMAN :
  • Belongs to the CFAP157 family.
Family:
  • Belongs to the CFAP157 family.
genes like me logo Genes that share domains with CFAP157: view

No data available for Suggested Antigen Peptide Sequences for CFAP157 Gene

Function for CFAP157 Gene

Molecular function for CFAP157 Gene

UniProtKB/Swiss-Prot Function:
Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility. May be required to suppress the formation of supernumerary axonemes and ensure a correct ultrastructure.

Gene Ontology (GO) - Molecular Function for CFAP157 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding ISS --
genes like me logo Genes that share ontologies with CFAP157: view
genes like me logo Genes that share phenotypes with CFAP157: view

Animal Models for CFAP157 Gene

MGI Knock Outs for CFAP157:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP157 Gene

Localization for CFAP157 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP157 Gene

Cytoplasm, cytoskeleton, cilium basal body.

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 CFAP157 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFAP157 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
GO:0005929 cilium IEA --
GO:0036064 ciliary basal body ISS --
genes like me logo Genes that share ontologies with CFAP157: view

Pathways & Interactions for CFAP157 Gene

SuperPathways for CFAP157 Gene

No Data Available

Interacting Proteins for CFAP157 Gene

Selected Interacting proteins: Q5JU67-CF157_HUMAN for CFAP157 Gene via IID

Symbol External ID(s) Details
CUL4B

Gene Ontology (GO) - Biological Process for CFAP157 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0007288 sperm axoneme assembly ISS --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with CFAP157: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP157 Gene

Drugs & Compounds for CFAP157 Gene

No Compound Related Data Available

Transcripts for CFAP157 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP157 Gene

No ASD Table

Relevant External Links for CFAP157 Gene

GeneLoc Exon Structure for
CFAP157
ECgene alternative splicing isoforms for
CFAP157

Expression for CFAP157 Gene

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , 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 CFAP157 Gene

Orthologs for CFAP157 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP157 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf117 33
  • 99.1 (n)
C9orf117 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C11H9orf117 33
  • 81.88 (n)
C9orf117 34
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H9orf117 33
  • 81.88 (n)
C9orf117 34
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700019L03Rik 34 33
  • 77.17 (n)
OneToOne
Cfap157 16
rat
(Rattus norvegicus)
Mammalia LOC499781 33
  • 76.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf117 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 56 (a)
OneToMany
-- 34
  • 33 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c9orf117 33
  • 55.8 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-233f10.4 33
  • 51.41 (n)
C5H9orf117 34
  • 36 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17122 34
  • 17 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToOne
Species where no ortholog for CFAP157 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 CFAP157 Gene

ENSEMBL:
Gene Tree for CFAP157 (if available)
TreeFam:
Gene Tree for CFAP157 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP157: view image

Paralogs for CFAP157 Gene

No data available for Paralogs for CFAP157 Gene

Variants for CFAP157 Gene

Sequence variations from dbSNP and Humsavar for CFAP157 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000115192 -- 127,712,714(+) C/G coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000281861 -- 127,716,006(+) C/A downstream_transcript_variant
rs1000301801 -- 127,706,595(+) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000723301 -- 127,704,431(+) C/A upstream_transcript_variant
rs1000793078 -- 127,710,514(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP157 Gene

Variant ID Type Subtype PubMed ID
nsv466571 CNV loss 19166990
nsv615369 CNV loss 21841781

Variation tolerance for CFAP157 Gene

Residual Variation Intolerance Score: 87.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP157 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP157

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP157 Gene

Disorders for CFAP157 Gene

No disorders were found for CFAP157 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP157 Gene

Publications for CFAP157 Gene

  1. Transcriptional program of ciliated epithelial cells reveals new cilium and centrosome components and links to human disease. (PMID: 23300604) Hoh RA … Stearns T (PloS one 2012) 2 3 58
  2. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett EJ … Harper JW (Cell 2010) 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4 58
  5. 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) 4 58

Products for CFAP157 Gene

Sources for CFAP157 Gene

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