2. Gene
  3. FBXO38 - F-box protein 38 Gene

FBXO38 - F-box protein 38 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：F-box 蛋白 38

种属: Homo sapiens

同用名: MOKA; Fbx38; HMN2D; SP329

基因 ID: 81545 | 基因类型: protein coding

关于 FBXO38

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:148,383,958-148,442,836 (from NCBI)

This gene has 20 transcripts (splice variants), 198 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 8.9), prostate (RPKM 8.6) and 25 other tissues.

功能概要

该基因编码一种包含 F-box 结构域的大蛋白，可能参与蛋白质泛素化。编码的蛋白质是 Krueppel 样因子 7 (Klf7) 的转录共激活因子。在患有常染色体显性遗传性远端运动神经元病 IID 型的个体中发现了该基因的杂合突变。该基因在 4 号染色体上有一个假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 12 月]

This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

FBXO38 基因产物(3)

mRNA Protein Name
NM_001271723.2 NP_001258652.1 F-box only protein 38 isoform c
NM_030793.5 NP_110420.3 F-box only protein 38 isoform a
NM_205836.3 NP_995308.1 F-box only protein 38 isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
30487606 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: 通过直接分析推断
30487606 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
30487606 GOA
involved in positive regulation of T cell activation IDA
IDA: 通过直接分析推断
30487606 GOA
involved in positive regulation of T cell mediated immune response to tumor cell IDA
IDA: 通过直接分析推断
30487606 GOA
acts upstream of or within positive regulation of neuron projection development IDA
IDA: 通过直接分析推断
24207122 GOA
involved in protein K48-linked ubiquitination IDA
IDA: 通过直接分析推断
30487606 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
24207122 GOA
located in nucleus IDA
IDA: 通过直接分析推断
24207122 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FBXO38 蛋白结构

F-box

F-box: F-box domain (31 - 64)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1188 a.a.
蛋白主名 其他名称

F-box only protein 38

modulator of KLF7 activity homolog

关联疾病

疾病名称 别名
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
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
Autosomal Dominant Distal Hereditary Motor Neuronopathy

Autosomal Dominant Distal Hereditary Motor Neuropathy

Autosomal Dominant Dhmn

Autosomal Dominant Distal Spinal Muscular Atrophy
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies
Gender Incongruence

Gender Dysphoria

Transsexualism

Gender Identify Disorder
Non-Syndromic X-Linked Intellectual Disability 103

Mrx103

X-Linked Mental Retardation 103
Ataxia, Sensory, 1, Autosomal Dominant

Autosomal Dominant Sensory Ataxia 1

SNAX1

Adsa

Ataxia, Sensory, Type 1, Autosomal Dominant

Ataxia, Sensory, Autosomal Dominant
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
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04805 FBXO38 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus FBXO38 VGNC VGNC:62189
Rattus norvegicus FBXO38 RGD RGD:1311505
Mus musculus FBXO38 MGD MGI:2444639
Macaca mulatta FBXO38 VGNC VGNC:72590
Canis familiaris FBXO38 VGNC VGNC:40777
Bos taurus FBXO38 VGNC VGNC:28908
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z