CFAP45 - cilia and flagella associated protein 45 Gene

Also Known as HTX11; NESG1; CCDC19

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25790

About CFAP45

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:159,872,364-159,900,165 (from NCBI)

This gene has 6 transcripts (splice variants), 207 orthologues and is associated with 1 phenotype. Biased expression in testis (RPKM 17.3), lung (RPKM 4.0) and 1 other tissue.

Summary

Enables AMP binding activity. Involved in establishment of left/right asymmetry and flagellated sperm motility. Located in 9+2 motile cilium; axoneme; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

CFAP45 Products (1)

mRNA Protein Name
NM_012337.3 NP_036469.2 cilia- and flagella-associated protein 45
Molecular Function GO Annotation Evidence References Source
enables AMP binding IDA
IDA: Inferred from direct assay
33139725 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in establishment of left/right asymmetry IMP
IMP: Inferred from mutant phenotype
33139725 GOA
involved in flagellated sperm motility IMP
IMP: Inferred from mutant phenotype
33139725 GOA
Cellular Component GO Annotation Evidence References Source
located in 9+2 motile cilium IDA
IDA: Inferred from direct assay
33139725 GOA
located in axonemal microtubule IDA
IDA: Inferred from direct assay
36191189 GOA
located in axoneme IDA
IDA: Inferred from direct assay
33139725 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CFAP45 Protein Structure

TPH

TPH: Trichohyalin-plectin-homology domain (186 - 533)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 551 a.a.
Protein Preferred Names Protein Names

cilia- and flagella-associated protein 45

  • coiled-coil domain containing 19

CFAP45 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CFAP45 Q9UL16 ENKUR Homo sapiens Q8TC29 32296183
Intra
CFAP45 Q9UL16 ENKUR Homo sapiens Q8TC29 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
  • HTX11

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

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
Canis familiaris CFAP45 VGNC VGNC:39163
Felis catus CFAP45 VGNC VGNC:60814
Mus musculus CFAP45 MGD MGI:1919120
Rattus norvegicus CFAP45 RGD RGD:1561559
Bos taurus CFAP45 VGNC VGNC:27244
Macaca mulatta CFAP45 VGNC VGNC:70963
Others CFAP45 NCBI