1. Gene
  2. FBXO11 - F-box protein 11 Gene

FBXO11 - F-box protein 11 Gene

Homo sapiens

Also known as UBR6; VIT1; FBX11; PRMT9; IDDFBA; UG063H01

Gene ID: 80204 | Gene type: protein coding

About FBXO11

Cytogenetic location: 2p16.3 Genomic coordinates (GRCh38): 2:47,806,920-47,906,498 (from NCBI)

This gene has 18 transcripts (splice variants), 135 orthologues, 1 paralogue and is associated with 132 phenotypes. Ubiquitous expression in testis (RPKM 26.4), brain (RPKM 21.6) 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 Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]

FBXO11 Products(3)

mRNA Protein Name
NM_001190274.2 NP_001177203.1 F-box only protein 11 isoform 4
NM_001374325.1 NP_001361254.1 F-box only protein 11 isoform 1
NM_025133.4 NP_079409.3 F-box only protein 11 isoform 1

FBXO11 Protein Structure

F-box-like

F-box-like: F-box-like (158 - 200)

Beta_helix

Beta_helix: Right handed beta helix region (481 - 631)

Beta_helix

Beta_helix: Right handed beta helix region (664 - 819)

zf-UBR

zf-UBR: Putative zinc finger in N-recognin (UBR box) (840 - 895)

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  • 927 a.a.
Protein Preferred Names Protein Names

F-box only protein 11

protein arginine N-methyltransferase 9

Related Diseases

Diseases Alias
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities

IDDFBA

Intellectual Developmental Disorder, Dysmorphic Facies, Behavioral Abnormalities

Otitis Media

Opsoclonus-Myoclonus Syndrome

OMS

Otitis Media, Susceptibility To

Kinsbourne Syndrome

Otitis Media, Chronic/Recurrent

Come/Rom

Ataxo-Opso-Myoclonus Syndrome

Dancing Eye Syndrome

Dancing Eye-Dancing Feet Syndrome

Oma Syndrome

Opsoclonus Myoclonus Syndrome

Opsoclonus-Myoclonus-Ataxia Syndrome

Poma Syndrome

Paraneoplastic Opsoclonus-Myoclonus

Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome

Opsoclonus Myoclonus

OM

{Otitis Media, Susceptibility To}

Infectious Otitis Media

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Chronic Purulent Otitis Media

Chronic Suppurative Otitis Media

Csom - [Chronic Suppurative Otitis Media]

Suppurative Otitis Media

Otitis Media With Effusion - Purulent

Purulent Otitis Media

Otitis Media, Suppurative

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

Diffuse Large B-Cell Lymphoma

Dlbcl

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

Large B-Cell Diffuse Lymphoma

Lymphoma, Large B-Cell, Diffuse

Dlbcl - [Diffuse Large B-Cell Lymphoma]

Diffuse Large Beta Cell Lymphoma

Tympanosclerosis

Ts - [Tympanosclerosis]

Tympanic Membrane Sclerosis

Tympanic Membrane Disease

Disorder Of Tympanic Membrane

Adhesive Otitis Media

Adhesive Middle Ear Disease

Chronic Adhesive Otitis Media

Adhesive Otitis

Fibrotic Adhesive Otitis Media

Adhesive Disorder Of Middle Ear

Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma

Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia

Bilateral Optic Nerve Hypoplasia

Optic Nerve Hypoplasia, Familial Bilateral

Familial Bilateral Optic Nerve Hypoplasia

Isolated Optic Nerve Hypoplasia/Aplasia

Optic Nerve Aplasia, Bilateral

Onh

BONH

Bilateral Optic Nerve Aplasia

Hypoplasia, Optic Nerve, Bilateral

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 FBXO11 VGNC VGNC:28892
Rattus norvegicus FBXO11 RGD RGD:727935
Macaca mulatta FBXO11 VGNC VGNC:72493
Felis catus FBXO11 VGNC VGNC:62176
Mus musculus FBXO11 MGD MGI:2147134
Canis familiaris FBXO11 VGNC VGNC:40762