CFAP54 - cilia and flagella associated protein 54 Gene

Also Known as C12orf55; C12orf63

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 144535

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
Others CFAP54 NCBI