1. Gene
  2. CFAP54 - cilia and flagella associated protein 54 Gene

CFAP54 - cilia and flagella associated protein 54 Gene

中文名称:纤毛和鞭毛相关蛋白 54

种属: Homo sapiens

同用名: C12orf55; C12orf63

基因 ID: 144535 | 基因类型: protein coding

关于 CFAP54

This gene has 9 transcripts (splice variants) and 90 orthologues. Biased expression in testis (RPKM 1.4), lung (RPKM 0.4) and 3 other tissues.

功能概要

预计参与纤毛组装;参与细胞运动的纤毛运动;和精子发生。预测作用于脑脊液循环的上游或内部;运动纤毛组装;和粘膜纤毛清除。预测位于轴丝。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in cilium assembly; cilium movement involved in cell motility; and spermatogenesis. Predicted to act upstream of or within cerebrospinal fluid circulation; motile cilium assembly; and mucociliary clearance. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Apr 2022]

CFAP54 基因产物(2)

mRNA Protein Name
NM_001306084.2 NP_001293013.1 cilia- and flagella-associated protein 54 isoform 1
NM_001367885.1 NP_001354814.1 cilia- and flagella-associated protein 54 isoform 2

CFAP54 蛋白结构

DUF4486

DUF4486: Domain of unknown function (DUF4486) (98 - 638)

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蛋白主名 其他名称

cilia- and flagella-associated protein 54

cilia and flagella associated 54

关联疾病

疾病名称 别名
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

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
Mus musculus CFAP54 MGD MGI:1922208
Rattus norvegicus CFAP54 RGD RGD:1565866
Felis catus CFAP54 VGNC VGNC:83528
Macaca mulatta CFAP54 VGNC VGNC:99914
Canis familiaris CFAP54 VGNC VGNC:108226