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

CFAP54 - cilia and flagella associated protein 54 Gene

Homo sapiens

Also known as C12orf55; C12orf63

Gene ID: 144535 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

DUF4486

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

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  • 3096 a.a.
Protein Preferred Names Protein Names

cilia- and flagella-associated protein 54

cilia and flagella associated 54

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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