PIFO - primary cilia formation Gene

Also Known as C1orf88; pitchfork

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 128344

About PIFO

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:111,324,663-111,353,017 (from NCBI)

This gene has 4 transcripts (splice variants) and 192 orthologues. Broad expression in thyroid (RPKM 7.2), testis (RPKM 6.6) and 16 other tissues.

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]

PIFO Products (2)

mRNA Protein Name
NM_001300831.1 NP_001287760.1 protein pitchfork isoform 2
NM_181643.6 NP_857594.2 protein pitchfork isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables beta-tubulin binding IDA
IDA: Inferred from direct assay
20643351 GOA
enables gamma-tubulin binding IDA
IDA: Inferred from direct assay
20643351 GOA
enables kinesin binding IPI
IPI: Inferred from physical interaction
20643351 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20643351 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
20643351 GOA
enables small GTPase binding IPI
IPI: Inferred from physical interaction
20643351 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of kinase activity IMP
IMP: Inferred from mutant phenotype
20643351 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

protein pitchfork

Related Diseases

Diseases Alias
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia

  • X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type

  • X-Linked Dominant Chondrodysplasia-Hydrocephaly-Microphthalmia Syndrome

  • CDP-PBHM

  • Chondrodysplasia, With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Orofaciodigital Syndrome I

  • OFD1

  • Orofaciodigital Syndrome 1

  • Oral-Facial-Digital Syndrome, Type I

  • Oral-Facial-Digital Syndrome 1

  • Ofds I

  • Papillon-Leage And Psaume Syndrome

  • Papillon-Leage-Psaume Syndrome

  • Oral-Facial-Digital Syndrome Type 1

  • Orofaciodigital Syndrome Type 1

  • Orofaciodigital Syndromes

  • Orofaciodigital Syndrome Type I

  • Oral-Facial-Digital Syndrome Type I

  • Ofd Syndrome 1

  • Ofds 1

  • Oral Facial Digital Syndrome 1

  • Oral Facial Digital Syndrome Type 1

  • Papillon-League-Psaume Syndrome

  • Ofdi

  • Ofdsi

  • Orofaciodigital Syndrome, Type I
Alstrom Syndrome

  • ALMS

  • Alström Syndrome

  • Alss

  • Alstrom-Hallgren Syndrome

  • Alstroem Syndrome
Palmoplantar Keratoderma And Congenital Alopecia 2

  • Cataract-Alopecia-Sclerodactyly Syndrome

  • Cass

  • Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia

  • PPKCA2

  • Autosomal Recessive Palmoplantar Hyperkeratosis And Congenital Alopecia

  • Palmoplantar Keratoderma And Congenital Alopecia, Wallis Type

  • Ppk-Ca, Wallis Type

  • Cataract, Alopecia, Sclerodactyly

  • Ppkca, Wallis Type

  • Ppkca Wallis Type

  • Cataract, Alopecia, Sclerodactyly Syndrome
Basal Cell Carcinoma, Infundibulocystic

  • Basal Cell Carcinoma With Follicular Differentiation

  • Infundibulocystic Basal Cell Carcinoma

  • Skin Infundibulocystic Basal Cell Carcinoma
Mosaic Variegated Aneuploidy Syndrome

  • Warburton-Anyane-Yeboa Syndrome

  • Mva Syndrome

  • Mosaic Variegated Aneuplody Microcephaly Syndrome

  • Warburton Anyane Yeboa Syndrome
Joubert Syndrome 1

  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10486 PIFO Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus PIFO MGD MGI:1923670
Rattus norvegicus PIFO RGD RGD:1586282
Macaca mulatta PIFO VGNC VGNC:75872
Others PIFO NCBI