PIFO Gene (Protein Coding)

Primary Cilia Formation

GC01P111324
GIFtS:
29

Aliases for PIFO Gene

Aliases for PIFO Gene

  • Primary Cilia Formation 2 3 5
  • Protein Pitchfork 3 4
  • C1orf88 3 4
  • Chromosome 1 Open Reading Frame 88 2
  • Pitchfork 3

External Ids for PIFO Gene

Previous HGNC Symbols for PIFO Gene

  • C1orf88

Previous GeneCards Identifiers for PIFO Gene

  • GC01P111889

Summaries for PIFO Gene

GeneCards Summary for PIFO Gene

PIFO (Primary Cilia Formation) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein kinase binding and beta-tubulin binding.

UniProtKB/Swiss-Prot Summary for PIFO Gene

  • During primary cilia disassembly, involved in cilia disassembly. Required specifically to control cilia retraction as well as the liberation and duplication of the basal body/centrosome. May act by stimulating AURKA activity at the basal body in a cell cycle-dependent manner.

Additional gene information for PIFO Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIFO Gene

Genomics for PIFO Gene

GeneHancer (GH) Regulatory Elements for PIFO Gene

Promoters and enhancers for PIFO 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
GH01J111345 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 750.3 +21.9 21938 2.1 MNT TFE3 POLR2A SP5 ZNF644 GLIS2 PKNOX1 RFX1 RXRA ZBTB8A NONHSAG002400.2 PIFO LINC01160 KCNA2 piR-52680-012
GH01J111332 Promoter/Enhancer 0.9 EPDnew ENCODE 750.4 +7.9 7870 0.2 CREM ZBED1 CBFB EED RUNX3 BCLAF1 JUNB BATF IRF4 ATF2 PIFO DENND2D piR-52680-012 LOC105378903
GH01J111324 Promoter 0.3 EPDnew 750.6 +0.1 129 0.1 ENSG00000229283 ENSG00000232240 LOC105378903 PIFO lnc-CHIA-1 piR-52680-012
GH01J111212 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 -103.1 -103068 18.7 ZNF24 SP1 CTCF RBPJ NR2F6 HCFC1 CC2D1A ETV6 ELF1 RELA CHI3L2 DDX20 ENSG00000229283 ENSG00000232240 PIFO ENSG00000273373 ATP5PB WDR77 OVGP1 DENND2D
GH01J111618 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 +296.1 296096 4.6 ZBTB40 ZBTB6 SMARCE1 POLR2A CC2D1A HLF L3MBTL2 MAX DACH1 NKRF RAP1A LOC107985184-001 ENSG00000243960 CTTNBP2NL ENSG00000273483 KRT18P57 RNU6-151P DDX20 WDR77 ATP5PB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIFO on UCSC Golden Path with GeneCards custom track

Genomic Locations for PIFO Gene

Genomic Locations for PIFO Gene
chr1:111,324,515-111,353,017
(GRCh38/hg38)
Size:
28,503 bases
Orientation:
Plus strand
chr1:111,888,910-111,895,639
(GRCh37/hg19)
Size:
6,730 bases
Orientation:
Plus strand

Genomic View for PIFO Gene

Genes around PIFO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIFO Gene

Proteins for PIFO Gene

Products:

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  2. Protein
  3. Assay

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

    Protein Symbol:
    Q8TCI5-PIFO_HUMAN
    Recommended name:
    Protein pitchfork
    Protein Accession:
    Q8TCI5
    Secondary Accessions:
    • D9J0A2
    • D9J0A3
    • Q4G0K4
    • Q52LJ6
    • Q5T5D5
    • Q5T5D6
    • Q8N310

    Protein attributes for PIFO Gene

    Size:
    191 amino acids
    Molecular mass:
    21973 Da
    Quaternary structure:
    • Interacts with proteins involved in ciliary transport, including ARL13B, CETN1, KIF3A, RAB6A, RAB8A, TUBB1 and TUBG1. Interacts with AURKA.

    Alternative splice isoforms for PIFO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIFO Gene

Post-translational modifications for PIFO Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIFO Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PIFO Gene

Domains & Families for PIFO Gene

Gene Families for PIFO Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PIFO Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIFO Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50944 (Q5T5D6_HUMAN)
genes like me logo Genes that share domains with PIFO: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PIFO Gene

Function for PIFO Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for PIFO Gene

UniProtKB/Swiss-Prot Function:
During primary cilia disassembly, involved in cilia disassembly. Required specifically to control cilia retraction as well as the liberation and duplication of the basal body/centrosome. May act by stimulating AURKA activity at the basal body in a cell cycle-dependent manner.

Phenotypes From GWAS Catalog for PIFO Gene

Gene Ontology (GO) - Molecular Function for PIFO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20643351
GO:0017137 Rab GTPase binding IPI 20643351
GO:0019894 kinesin binding IPI 20643351
GO:0019901 protein kinase binding IPI 20643351
GO:0043015 gamma-tubulin binding IDA 20643351
genes like me logo Genes that share ontologies with PIFO: view
genes like me logo Genes that share phenotypes with PIFO: view

Animal Models for PIFO Gene

MGI Knock Outs for PIFO:
  • Pifo Pifo<tm1.1Heli>

Animal Model Products

CRISPR Products

miRNA for PIFO Gene

miRTarBase miRNAs that target PIFO

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIFO Gene

Localization for PIFO Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIFO Gene

Cytoplasmic vesicle. Golgi apparatus, trans-Golgi network. Cytoplasm. Note=Accumulates specifically at the basal body and ciliary necklace during the early steps of cilia assembly and disassembly, when structural, functional and regulatory proteins are delivered to cilia. At S phase, accumulates in vesicles and declines during mitosis. {ECO:0000250}.

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 PIFO gene
Compartment Confidence
cytoskeleton 4
golgi apparatus 4
nucleus 3
cytosol 1
extracellular 0
mitochondrion 0

Gene Ontology (GO) - Cellular Components for PIFO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network ISS --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with PIFO: view

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

Pathways & Interactions for PIFO Gene

PathCards logo

SuperPathways for PIFO Gene

No Data Available

Gene Ontology (GO) - Biological Process for PIFO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0031344 regulation of cell projection organization ISS,IBA --
GO:0033674 positive regulation of kinase activity IMP 20643351
genes like me logo Genes that share ontologies with PIFO: view

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

Drugs & Compounds for PIFO Gene

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  1. Drug
No Compound Related Data Available

Transcripts for PIFO Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PIFO Gene

(2) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(84) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d
SP1: -
SP2: -
SP3: - -
SP4: - - -
SP5:

Relevant External Links for PIFO Gene

GeneLoc Exon Structure for
PIFO
ECgene alternative splicing isoforms for
PIFO

Expression for PIFO Gene

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  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for PIFO Gene
mRNA expression by GTEx for PIFO Gene

mRNA differential expression in normal tissues according to GTEx for PIFO Gene

This gene is overexpressed in Testis (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of PIFO Gene:

PIFO

SOURCE GeneReport for Unigene cluster for PIFO Gene:

Hs.172510

Evidence on tissue expression from TISSUES for PIFO Gene

  • Nervous system(4.4)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with PIFO: view

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

Orthologs for PIFO Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIFO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PIFO 33 32
  • 99.13 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia LOC611691 32
  • 83.33 (n)
-- 33
  • 73 (a)
 OneToMany
-- 33
  • 57 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia C3H1orf88 32
  • 81.22 (n)
PIFO 33
  • 69 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pifo 17 33 32
  • 79.3 (n)
rat
(Rattus norvegicus)
 Mammalia Pifo 32
  • 78.57 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia PIFO 33
  • 55 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia PIFO 33
  • 52 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PIFO 33
  • 43 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PIFO 33
  • 59 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii PIFO 33
  • 42 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.3194 33
  • 39 (a)
 OneToOne
Species where no ortholog for PIFO 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PIFO Gene

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

Paralogs for PIFO Gene

No data available for Paralogs for PIFO Gene

Variants for PIFO Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for PIFO Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000160193 -- 111,331,516(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000194599 -- 111,331,894(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000197153 -- 111,329,624(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000274730 -- 111,350,803(+) G/A intron_variant
rs1000556042 -- 111,333,051(+) A/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv463250 CNV loss 19166990
nsv547535 CNV loss 21841781

Variation tolerance for PIFO Gene

Residual Variation Intolerance Score: 69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.63; 56.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIFO Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PIFO Gene

Additional Disease Information for PIFO

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PIFO Gene.

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

Publications for PIFO Gene

  1. Pitchfork regulates primary cilia disassembly and left-right asymmetry. (PMID: 20643351) Kinzel D … Lickert H (Developmental cell 2010) 2 3 4 56
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 56
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 56

ExternalLinks

View latest publications for PIFO gene in Mastermind

Products for PIFO Gene

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