1. Gene
  2. FBXL3 - F-box and leucine rich repeat protein 3 Gene

FBXL3 - F-box and leucine rich repeat protein 3 Gene

Homo sapiens

Also known as FBL3; FBL3A; FBXL3A; IDDSFAS

Gene ID: 26224 | Gene type: protein coding

About FBXL3

Cytogenetic location: 13q22.3 Genomic coordinates (GRCh38): 13:77,005,260-77,027,159 (from NCBI)

This gene has 6 transcripts (splice variants), 258 orthologues, 15 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 28.0), fat (RPKM 26.4) 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 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 Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]

FBXL3 Products(1)

mRNA Protein Name
NM_012158.4 NP_036290.1 F-box/LRR-repeat protein 3

FBXL3 Protein Structure

F-box-like

F-box-like: F-box-like (42 - 77)

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  • 428 a.a.
Protein Preferred Names Protein Names

F-box/LRR-repeat protein 3

F-box and leucine-rich repeat protein 3A

Related Diseases

Diseases Alias
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects

IDDSFAS

Mental Retardation, Short Stature, Facial Anomalies, And Joint Dislocations

Ceroid Lipofuscinosis, Neuronal, 5

Neuronal Ceroid Lipofuscinosis 5

CLN5

Cln5 Disease

Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis

Vlincl

Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset

Neuronal Ceroid Lipofuscinosis 5 Variable Age Of Onset

Cln5 Disease, Adult

Cln5 Disease, Juvenile

Cln5 Disease, Late Infantile

Neuronal Ceroid Lipofuscinosis Finnish Variant

Finnish Vlincl

Jansky-Bielschowsky Disease

Late-Infantile Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis, Late-Infantile

Finnish

Neuronal Ceroid Lipofuscinosis 5 With Variable Age At Onset

Lipofuscinosis, Ceroid, Neuronal, Type 5

Late-Infantile Neuronal Ceroid Lipfuscinosis

Ceroid Lipofuscinosis, Neuronal, 6

Advanced Sleep Phase Syndrome

Fasps

Familial Advanced Sleep-Phase Syndrome

Advanced Sleep Phase Syndrome, Familial

Familial Advanced Sleep Phase Syndrome

Sleep Phase Syndrome, Advanced, Familial

Advanced Sleep-Phase Syndrome, Familial

Delayed Sleep Phase Disorder

Delayed Sleep Phase Syndrome

Delayed Sleep Phase Syndrome, Susceptibility To

DSPD

Delayed Sleep Phase Disorder, Susceptibility To

DSPS

Sleep Phase, Delayed, Disorder

Sleep Phase Syndrome, Delayed, Susceptibility To

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 FBXL3 VGNC VGNC:54948
Bos taurus FBXL3 VGNC VGNC:52777
Felis catus FBXL3 VGNC VGNC:62175
Rattus norvegicus FBXL3 RGD RGD:1305660
Mus musculus FBXL3 MGD MGI:1354702
Macaca mulatta FBXL3 VGNC VGNC:72498