CFAP100 - cilia and flagella associated protein 100 Gene

Also Known as MIA1; CCDC37

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 348807

About CFAP100

This gene has 8 transcripts (splice variants), 193 orthologues and 3 paralogues. Biased expression in testis (RPKM 3.6) and lung (RPKM 1.4).

Summary

Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement and inner dynein arm assembly. Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]

CFAP100 Products (1)

mRNA Protein Name
NM_182628.3 NP_872434.2 cilia- and flagella-associated protein 100
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence References Source
located in ciliary basal body IDA
IDA: Inferred from direct assay
29257953 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

CFAP100 Protein Structure

DUF4200

DUF4200: Domain of unknown function (DUF4200) (151 - 269)

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

cilia- and flagella-associated protein 100

  • coiled-coil domain containing 37

Related Diseases

Diseases Alias
Crouzon Syndrome With Acanthosis Nigricans
  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

  • CAN

  • Crouzonodermoskeletal Syndrome

  • Crouzon-Dermoskeletal Syndrome

  • Crouzon, With Acanthosis Nigricans Syndrome

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
Bos taurus CFAP100 VGNC VGNC:27236
Macaca mulatta CFAP100 VGNC VGNC:71113
Rattus norvegicus CFAP100 RGD RGD:1305768
Felis catus CFAP100 VGNC VGNC:60807
Mus musculus CFAP100 MGD MGI:2141635
Canis familiaris CFAP100 VGNC VGNC:49839
Others CFAP100 NCBI