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

FBXW8 Protein Structure

F-box-like

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

WD40

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

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  • 598 a.a.
Protein Preferred Names Protein Names

F-box/WD repeat-containing protein 8

F-box and WD-40 domain protein 8

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