FBXO31 - F-box protein 31 Gene

Also Known as FBX14; Fbx31; MRT45; FBXO14; pp2386

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79791

About FBXO31

Cytogenetic location: 16q24.2 Genomic coordinates (GRCh38): 16:87,326,987-87,392,121 (from NCBI)

This gene has 8 transcripts (splice variants), 273 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 13.6), ovary (RPKM 7.7) and 25 other tissues.

Summary

This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for Other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

FBXO31 Products (2)

mRNA	Protein	Name
NM_001282683.2	NP_001269612.1	F-box only protein 31 isoform 2
NM_024735.5	NP_079011.3	F-box only protein 31 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cyclin binding	IPI IPI: Inferred from physical interaction	19412162	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19412162	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	19412162	GOA
involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	19412162	GOA
involved in anaphase-promoting complex-dependent catabolic process	IMP IMP: Inferred from mutant phenotype	19412162	GOA
involved in mitotic G1 DNA damage checkpoint signaling	IMP IMP: Inferred from mutant phenotype	19412162	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SCF ubiquitin ligase complex	IDA IDA: Inferred from direct assay	19412162	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

FBXO31 Protein Structure

F-box-like

0
100
200
300
400
500
539 a.a.

Protein Preferred Names	Protein Names
F-box only protein 31	SCF ubiquitin ligase specificity factor

FBXO31 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FBXO31	Q5XUX0	SKP1	Homo sapiens	P63208	Anti Tag CoIP	22632967
Intra	FBXO31	Q5XUX0	CCND1	Homo sapiens	P24385	Anti Tag CoIP	19412162
Intra	FBXO31	Q5XUX0	ATM	Homo sapiens	Q13315	Protein Kinase Assay	19412162
Intra	FBXO31	Q5XUX0	ATM	Homo sapiens	Q13315	Anti Bait CoIP	19412162

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Recessive 45	MRT45 Autosomal Recessive Intellectual Developmental Disorder 45
Autosomal Recessive Non-Syndromic Intellectual Disability	Ar-Nsid Ns-Arid
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Non-Syndromic X-Linked Intellectual Disability 103	Mrx103 X-Linked Mental Retardation 103
Syndromic X-Linked Intellectual Disability Turner Type	Mental Retardation, X-Linked Syndromic, Turner Type Intellectual Disability, X-Linked Syndromic, Turner Type Brooks-Wisniewski-Brown Syndrome Mental Retardation And Macrocephaly Syndrome Mrxst X-Linked Intellectual Disability, Brooks Type Mental Retardation, X-Linked, Syndromic, Turner Type
Ataxia, Sensory, 1, Autosomal Dominant	Autosomal Dominant Sensory Ataxia 1 SNAX1 Adsa Ataxia, Sensory, Type 1, Autosomal Dominant Ataxia, Sensory, Autosomal Dominant
Non-Syndromic X-Linked Intellectual Disability 101	Mrx101 X-Linked Mental Retardation 101
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
Charcot-Marie-Tooth Disease, Axonal, Type 2p	CMT2P Charcot-Marie-Tooth Disease Axonal Type 2p Charcot-Marie-Tooth Disease Type 2p Charcot-Marie-Tooth Neuropathy, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly Cmt2g, Formerly Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Toothe Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease 2p Charcot-Marie-Tooth Disease, Axonal Type 2g Charcot-Marie-Tooth Neuropathy Axonal Type 2p Cmt2g Charcot-Marie-Tooth Disease, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g
Charcot-Marie-Tooth Disease, Axonal, Type 2r	Charcot-Marie-Tooth Disease Type 2r CMT2R Charcot-Marie-Tooth Neuropathy, Type 2r Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r Charcot-Marie-Tooth Disease, Type 2r Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r Charcot-Marie-Tooth Neuropathy Type 2r Charcot-Marie-Tooth Disease 2r Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Neuropathy Axonal Type 2r
Syndromic X-Linked Intellectual Disability Cabezas Type	Cabezas Syndrome Syndromic X-Linked Mental Retardation 15 Mental Retardation, X-Linked, Syndromic 15 Mrss Mrxs15 Mrxsc X-Linked Mental Retardation With Short Stature X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait Mental Retardation, X-Linked, With Short Stature Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
Retinitis Pigmentosa 31	RP31 Retinitis Pigmentosa-31 Retinitis Pigmentosa, Type 31
Bardet-Biedl Syndrome 14	BBS14 Bardet-Biedl Syndrome 14, Modifier Of Bardet-Biedl Syndrome, Type 14
Kaufman Oculocerebrofacial Syndrome	KOS Blepharophimosis-Ptosis-Intellectual Disability Syndrome Oculocerebrofacial Syndrome, Kaufman Type Bpids Blepharophimosis Ptosis Intellectual Disability Syndrome Blepharophimosis-Ptosis-Intellectual Disability Syndrome Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet Bpid 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
Gordon Holmes Syndrome	Cerebellar Ataxia And Hypogonadotropic Hypogonadism Lhrh Deficiency And Ataxia Cerebellar Ataxia-Hypogonadism Syndrome GDHS Cahh Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia Gordon-Holmes Syndrome Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia Cerebellar Ataxia - Hypogonadism Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
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
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04803	FBXO31 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04811	FBXO5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21570	Fbxo5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	FBXO31	VGNC	VGNC:40773
Macaca mulatta	FBXO31	VGNC	VGNC:72514
Bos taurus	FBXO31	VGNC	VGNC:28904
Rattus norvegicus	FBXO31	RGD	RGD:1561069
Mus musculus	FBXO31	MGD	MGI:1354708
Others	FBXO31	NCBI