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

Also Known as FBL6; FBL7

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23194

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25778398	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

LRR_6

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	References
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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04794	FBXL7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-111899	7-Ethoxyrosmanol		/	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
Others	FBXL7	NCBI