Pifo primary cilia formation [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pifoprovided by MGI
Official Full Name: primary cilia formationprovided by MGI
Primary source: MGI:MGI:1923670
See related: Ensembl:ENSMUSG00000010136 AllianceGenome:MGI:1923670
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1700027A23Rik
Summary: Enables cytoskeletal protein binding activity and enzyme binding activity. Involved in regulation of cell projection organization. Acts upstream of or within with a positive effect on cilium organization. Acts upstream of or within embryonic heart tube left/right pattern formation. Located in ciliary basal body; nucleus; and trans-Golgi network. Is expressed in several structures, including brain ventricle and choroid plexus; embryo ectoderm; lung mesenchyme; node; and testis. Orthologous to human PIFO (primary cilia formation). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 31.5), lung adult (RPKM 2.0) and 1 other tissue See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3; 3 F2.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (105904273..105921962, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (105996957..106014646, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

there may be a potential correlation between Pitchfork and Kif3a that could regulate primary cilia disassembly during palate development
Title: The correlative hypotheses between Pitchfork and Kif3a in palate development.
Pitchfork and Gprasp2 Target Smoothened to the Primary Cilium for Hedgehog Pathway Activation.
Title: Pitchfork and Gprasp2 Target Smoothened to the Primary Cilium for Hedgehog Pathway Activation.
The proper expression levels of Pitchfork might play a pivotal role in normal secondary palate morphogenesis.
Title: Morphological and molecular changes associated with Pitchfork during mouse palate development.
Pitchfork (Pifo) associates with ciliary targeting complexes and accumulates at the basal body during cilia disassembly. Haploinsufficiency causes a unique node cilia duplication phenotype, left-right asymmetry defects, and heart failure.
Title: Pitchfork regulates primary cilia disassembly and left-right asymmetry.
1700027A23Rik is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
Title: Tissue expression patterns identify mouse cilia genes.

Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (1)

General gene information

Go to the top of the page Help

Homology

Homologs of the Pifo gene: The Pifo gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, and rat.
Orthologs from Annotation Pipeline: 312 organisms have orthologs with human gene Pifo
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-tubulin binding	ISO Inferred from Sequence Orthology more info
enables cytoskeletal protein binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables gamma-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables gamma-tubulin binding	ISO Inferred from Sequence Orthology more info
enables kinesin binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinesin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within_positive_effect cilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic heart tube left/right pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of kinase activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell projection organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of cell projection organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: protein pitchfork

Names: pitchfork

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001200028.1 → NP_001186957.1 protein pitchfork isoform a

See identical proteins and their annotated locations for NP_001186957.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AW492850, HM237138

Consensus CDS

CCDS51038.1

UniProtKB/Swiss-Prot

Q9D9W1

Related

ENSMUSP00000010280.5, ENSMUST00000010280.11
NM_029604.3 → NP_083880.2 protein pitchfork isoform b

See identical proteins and their annotated locations for NP_083880.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AK006407, AW492850, AW519725

Consensus CDS

CCDS51037.1

UniProtKB/Swiss-Prot

Q810M7, Q9D9W1

Related

ENSMUSP00000069454.7, ENSMUST00000066319.8