1. Gene
  2. FBXW8 - F-box and WD repeat domain containing 8 Gene

FBXW8 - F-box and WD repeat domain containing 8 Gene

Homo sapiens

Also known as FBW6; FBW8; FBX29; FBXW6; FBXO29

Gene ID: 26259 | Gene type: protein coding

About FBXW8

Cytogenetic location: 12q24.22 Genomic coordinates (GRCh38): 12:116,910,950-117,031,148 (from NCBI)

This gene has 4 transcripts (splice variants), 191 orthologues and 14 paralogues. Ubiquitous expression in thyroid (RPKM 4.3), ovary (RPKM 2.4) and 25 other tissues.

Summary

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein Ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

FBXW8 Products(2)

mRNA Protein Name
NM_012174.2 NP_036306.1 F-box/WD repeat-containing protein 8 isoform 2
NM_153348.3 NP_699179.2 F-box/WD repeat-containing protein 8 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15070733 GOA
contributes to ubiquitin-protein transferase activity IDA
IDA: Inferred from direct assay
24362026 GOA
Biological Process GO Annotation Evidence Reference Source
involved in Golgi organization IGI
IGI: Inferred from genetic interaction
21572988 GOA
involved in cell population proliferation IDA
IDA: Inferred from direct assay
24362026 GOA
involved in positive regulation of dendrite morphogenesis IDA
IDA: Inferred from direct assay
21572988 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
18498745 GOA
Cellular Component GO Annotation Evidence Reference Source
part of 3M complex IDA
IDA: Inferred from direct assay
24793695 GOA
part of Cul7-RING ubiquitin ligase complex IDA
IDA: Inferred from direct assay
18498745 GOA
located in Golgi apparatus IDA
IDA: Inferred from direct assay
21572988 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
21572988 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

FBXW8 Protein Structure

F-box-like

F-box-like: F-box-like (118 - 161)

WD40

WD40: WD domain, G-beta repeat (380 - 461)

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

F-box/WD repeat-containing protein 8

F-box and WD-40 domain protein 8

FBXW8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
FBXW8 Q8N3Y1 MYC Homo sapiens P01106 17314511
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae

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
Felis catus FBXW8 VGNC VGNC:62205
Rattus norvegicus FBXW8 RGD RGD:1306032
Mus musculus FBXW8 MGD MGI:1923041
Canis familiaris FBXW8 VGNC VGNC:40798
Macaca mulatta FBXW8 VGNC VGNC:72497
Bos taurus FBXW8 VGNC VGNC:58599