1. Gene
  2. FBXO8 - F-box protein 8 Gene

FBXO8 - F-box protein 8 Gene

Homo sapiens

Also known as FBS; DC10; FBX8

Gene ID: 26269 | Gene type: protein coding

About FBXO8

Cytogenetic location: 4q34.1 Genomic coordinates (GRCh38): 4:174,236,658-174,283,667 (from NCBI)

This gene has 5 transcripts (splice variants), 207 orthologues and 15 paralogues. Ubiquitous expression in placenta (RPKM 13.8), thyroid (RPKM 12.0) and 25 other tissues.

Summary

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 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 belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008]

FBXO8 Products(1)

mRNA Protein Name
NM_012180.3 NP_036312.2 F-box only protein 8

FBXO8 Protein Structure

F-box-like

F-box-like: F-box-like (74 - 112)

Sec7

Sec7: Sec7 domain (138 - 311)

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  • 319 a.a.
Protein Preferred Names Protein Names

F-box only protein 8

F-box protein Fbx8

Related Diseases

Diseases Alias
Cardiomyopathy, Familial Hypertrophic, 17

Hypertrophic Cardiomyopathy 17

CMH17

Cardiomyopathy, Hypertrophic, 17

Cardiomyopathy Familial Hypertrophic 17

Cardiomyopathy, Familial Hypertrophic 17

Cardiomyopathy, Hypertrophic, Familial, Type 17

Arthrogryposis, Distal, Type 10

DA10

Distal Arthrogryposis Type 10

Short Achilles Tendon

Plantar Flexion Contracture

Short Tendo Calcaneus

Congenital Plantar Contractures

Tendo Calcaneus, Short

Acinar Cell Cystadenocarcinoma

Pancreatic Acinar Cell Cystadenocarcinoma

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 FBXO8 MGD MGI:1354696
Canis familiaris FBXO8 VGNC VGNC:40790
Bos taurus FBXO8 VGNC VGNC:28920
Rattus norvegicus FBXO8 RGD RGD:1307596
Felis catus FBXO8 VGNC VGNC:78494
Macaca mulatta FBXO8 VGNC VGNC:81410