PIFO - primary cilia formation Gene

Homo sapiens

Also known as C1orf88; pitchfork

Gene ID: 128344 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10486	PIFO Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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