FBXO31 - F-box protein 31 Gene

Homo sapiens

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

Gene ID: 79791 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04803	FBXO31 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.