1. Gene
  2. CFAP300 - cilia and flagella associated protein 300 Gene

CFAP300 - cilia and flagella associated protein 300 Gene

中文名称:纤毛和鞭毛相关蛋白 300

种属: Homo sapiens

同用名: FBB5; CILD38; DNAAF17; C11orf70

基因 ID: 85016 | 基因类型: protein coding

关于 CFAP300

Cytogenetic location: 11q22.1 Genomic coordinates (GRCh38): 11:102,047,437-102,084,554 (from NCBI)

This gene has 5 transcripts (splice variants), 191 orthologues and is associated with 3 phenotypes. Biased expression in testis (RPKM 12.9), endometrium (RPKM 1.2) and 9 other tissues.

功能概要

预计位于细胞质和运动纤毛中。与原发性纤毛运动障碍有关 38。[由基因组资源联盟提供,2022 年 4 月]

Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Apr 2022]

CFAP300 基因产物(3)

mRNA Protein Name
NM_001195005.2 NP_001181934.1 cilia- and flagella-associated protein 300 isoform 2
NM_001363505.2 NP_001350434.1 cilia- and flagella-associated protein 300 isoform 3
NM_032930.3 NP_116319.2 cilia- and flagella-associated protein 300 isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
29727692 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

CFAP300 蛋白结构

DUF4498

DUF4498: Domain of unknown function (DUF4498) (14 - 259)

  • 0
  • 100
  • 200
  • 267 a.a.
蛋白主名 其他名称

cilia- and flagella-associated protein 300

dynein axonemal assembly factor 17

关联疾病

疾病名称 别名
Ciliary Dyskinesia, Primary, 38

CILD38

Ciliary Dyskinesia, Primary, 38, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 38

Primary Ciliary Dyskinesia 38 With Or Without Situs Inversus

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

Kartagener Syndrome

Kartagener'S Syndrome

Spinal Muscular Atrophy With Lower Extremity Predominant

Spinal Muscular Atrophy With Lower Extremity Predominance

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures

Kugelberg-Welander Syndrome, Autosomal Dominant

Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures

Sma-Led

Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Dominant

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CFAP300 VGNC VGNC:71120
Rattus norvegicus CFAP300 RGD RGD:1591894
Felis catus CFAP300 VGNC VGNC:81996
Canis familiaris CFAP300 VGNC VGNC:53318
Mus musculus CFAP300 MGD MGI:3045346