2. Gene
  3. FBXL7 - F-box and leucine rich repeat protein 7 Gene

FBXL7 - F-box and leucine rich repeat protein 7 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as FBL6; FBL7

Gene ID: 23194 | Gene type: protein coding

About FBXL7

Cytogenetic location: 5p15.1 Genomic coordinates (GRCh38): 5:15,500,180-15,939,793 (from NCBI)

This gene has 3 transcripts (splice variants), 226 orthologues and 15 paralogues. Ubiquitous expression in endometrium (RPKM 6.3), adrenal (RPKM 5.3) and 22 other tissues.

Summary

This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the Other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain Other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

FBXL7 Products(2)

mRNA Protein Name
NM_001278317.2 NP_001265246.1 F-box/LRR-repeat protein 7 isoform 2
NM_012304.5 NP_036436.1 F-box/LRR-repeat protein 7 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
25778398 GOA
Biological Process GO Annotation Evidence Reference Source
involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
25778398 GOA
involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
28218735 GOA
involved in protein polyubiquitination IDA
IDA: Inferred from direct assay
25778398 GOA
involved in protein polyubiquitination IMP
IMP: Inferred from mutant phenotype
28218735 GOA
Cellular Component GO Annotation Evidence Reference Source
part of SCF ubiquitin ligase complex IDA
IDA: Inferred from direct assay
25778398 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

FBXL7 Protein Structure

F-box-like

F-box-like: F-box-like (114 - 159)

LRR_6

LRR_6: Leucine Rich repeat (237 - 252)

LRR_6

LRR_6: Leucine Rich repeat (297 - 319)

LRR_6

LRR_6: Leucine Rich repeat (375 - 399)

LRR_6

LRR_6: Leucine Rich repeat (401 - 424)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 491 a.a.
Protein Preferred Names Protein Names

F-box/LRR-repeat protein 7

F-box protein Fbl7

FBXL7 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
FBXL7 Q9UJT9 FCHO1 Homo sapiens A0A0C3SFZ9
Y2H Array
32296183
Intra
FBXL7 Q9UJT9 FCHO1 Homo sapiens A0A0C3SFZ9
Y2H Prey Pooling
32296183
Intra
FBXL7 Q9UJT9 TBC1D5 Homo sapiens Q92609
Y2H Array
32296183
Intra
FBXL7 Q9UJT9 TBC1D5 Homo sapiens Q92609
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Neuronopathy, Distal Hereditary Motor, Type Iid

HMN2D

Hmn Iid

Dhmn2d

Distal Hereditary Motor Neuronopathy Type 2d

Distal Hereditary Motor Neuropathy Type Iid

Neuronopathy, Distal Hereditary Motor, Type 2d

Neuropathy, Distal Hereditary Motor, Type Iid

Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant

Distal Spinal Muscular Atrophy With Calf Predominance

Neuronopathy, Distal Hereditary Motor, 2d

Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant

Dhmn Iid

Neuropathy, Motor, Distal, Hereditary, Type 2d
Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome

Lymphangiectasies And Lymphedema Hennekam Type

Generalized Lymphatic Dysplasia

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome
Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii

Distal Hereditary Motor Neuropathy Type 2

Distal Hereditary Motor Neuropathy Type Ii

Hmn Ii

Hmn2

Distal Hereditary Motor Neuronopathy, Type Ii

Distal Spinal Muscular Atrophy Type 2

Dhmn2

Dsma2

Neuropathy, Motor, Distal, Hereditary, Type Ii

Spinal Muscular Atrophy, Jerash Type
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04794 FBXL7 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus FBXL7 VGNC VGNC:97435
Bos taurus FBXL7 VGNC VGNC:52778
Canis familiaris FBXL7 VGNC VGNC:50891
Rattus norvegicus FBXL7 RGD RGD:1305813
Macaca mulatta FBXL7 VGNC VGNC:81409
Mus musculus FBXL7 MGD MGI:3052506