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PIFO primary cilia formation [ Homo sapiens (human) ]

Gene ID: 128344, updated on 13-Oct-2022

Summary

Official Symbol
PIFOprovided by HGNC
Official Full Name
primary cilia formationprovided by HGNC
Primary source
HGNC:HGNC:27009
See related
Ensembl:ENSG00000173947 MIM:614234; AllianceGenome:HGNC:27009
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C1orf88; pitchfork
Summary
Enables cytoskeletal protein binding activity and enzyme binding activity. Involved in positive regulation of kinase activity. Predicted to be located in trans-Golgi network. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thyroid (RPKM 7.2), testis (RPKM 6.6) and 16 other tissues See more
Orthologs
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Genomic context

See PIFO in Genome Data Viewer
Location:
1p13.2
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (111324663..111353017)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (111361246..111367700)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111889182..111895639)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chitinase acidic Neighboring gene uncharacterized LOC105378903 Neighboring gene uncharacterized LOC105378904 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 12

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23853, MGC126550

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
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 kinesin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium organization IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic heart tube left/right pattern formation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell projection organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of cell projection organization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
 

NCBI Reference Sequences (RefSeq)

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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)

  1. NM_001300831.1NP_001287760.1  protein pitchfork isoform 2

    See identical proteins and their annotated locations for NP_001287760.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant (1). The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AA021608, AK303897, BC050319, BF674731, BU686257
    Consensus CDS
    CCDS72836.1
    UniProtKB/Swiss-Prot
    Q8TCI5
    Related
    ENSP00000358752.4, ENST00000369737.4
  2. NM_181643.6NP_857594.2  protein pitchfork isoform 1

    See identical proteins and their annotated locations for NP_857594.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC050319, BC101501, BU686257
    Consensus CDS
    CCDS833.1
    UniProtKB/Swiss-Prot
    Q8N310, Q8TCI5
    Related
    ENSP00000358753.4, ENST00000369738.9

RNA

  1. NR_125338.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AA021608, AK310801, BC050319, BF674731, BU686257

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    111324663..111353017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270472.2XP_005270529.1  protein pitchfork isoform X1

  2. XM_017000322.2XP_016855811.1  protein pitchfork isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    111361246..111367700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)