2. Gene
  3. PIFO - primary cilia formation Gene

PIFO - primary cilia formation Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：初级纤毛形成

种属: Homo sapiens

同用名: C1orf88; pitchfork

基因 ID: 128344 | 基因类型: protein coding

关于 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.

功能概要

启用细胞骨架蛋白结合活性和酶结合活性。参与激酶活性的正调节。预测位于跨高尔基体网络中。预测在睫状基体中有活性。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(2)

mRNA Protein Name
NM_001300831.1 NP_001287760.1 protein pitchfork isoform 2
NM_181643.6 NP_857594.2 protein pitchfork isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables beta-tubulin binding IDA
IDA: 通过直接分析推断
20643351 GOA
enables gamma-tubulin binding IDA
IDA: 通过直接分析推断
20643351 GOA
enables kinesin binding IPI
IPI: 通过物理相互作用推断
20643351 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20643351 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
20643351 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
20643351 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of kinase activity IMP
IMP: 通过突变表型推断
20643351 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断
蛋白主名 其他名称

protein pitchfork

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10486 PIFO Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PIFO MGD MGI:1923670
Rattus norvegicus PIFO RGD RGD:1586282
Macaca mulatta PIFO VGNC VGNC:75872
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