2. Gene
  3. UBA6 - ubiquitin like modifier activating enzyme 6 Gene

UBA6 - ubiquitin like modifier activating enzyme 6 Gene

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

中文名称：泛素样修饰激活酶 6

种属: Homo sapiens

同用名: E1-L2; MOP-4; UBE1L2

基因 ID: 55236 | 基因类型: protein coding

关于 UBA6

Cytogenetic location: 4q13.2 Genomic coordinates (GRCh38): 4:67,612,652-67,701,155 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues and 9 paralogues. Ubiquitous expression in lymph node (RPKM 7.6), appendix (RPKM 7.3) and 25 other tissues.

功能概要

用泛素 (UBB; MIM 191339) 或泛素样蛋白修饰蛋白质控制许多信号网络，需要泛素激活酶 (E1) 、泛素结合酶 (E2) 和泛素蛋白连接酶 (E3) 。 UBE1L2 是一种 E1 酶，可启动泛素样蛋白的激活和结合 (Jin 等人，2007 [PubMed 17597759]) 。[OMIM 提供，2008 年 3 月]

Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating Enzyme (E1), a ubiquitin conjugating Enzyme (E2), and a ubiquitin protein Ligase (E3). UBE1L2 is an E1 Enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]

UBA6 基因产物(1)

mRNA Protein Name
NM_018227.6 NP_060697.4 ubiquitin-like modifier-activating enzyme 6
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables FAT10 activating enzyme activity IMP
IMP: 通过突变表型推断
17889673 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17889673 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein ubiquitination IMP
IMP: 通过突变表型推断
17889673 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
17889673 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

UBA6 蛋白结构

ThiF

ThiF: ThiF family (61 - 191)

ThiF

ThiF: ThiF family (460 - 600)

UBA_e1_thiolCys

UBA_e1_thiolCys: Ubiquitin-activating enzyme active site (606 - 649)

(849 - 913)

E1_UFD

E1_UFD: Ubiquitin fold domain (921 - 1039)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1052 a.a.
蛋白主名 其他名称

ubiquitin-like modifier-activating enzyme 6

UBA6, ubiquitin-activating enzyme E1

UBA6 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
UBA6 A0AVT1 HMBOX1 Homo sapiens Q6NT76
Validated Y2H
25416956
种属内
UBA6 A0AVT1 HMBOX1 Homo sapiens Q6NT76
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Ichthyosis, Congenital, Autosomal Recessive 4a

Ichthyosis Congenita Iib

Icr2b

Autosomal Recessive Congenital Ichthyosis 4a

ARCI4A

Lamellar Ichthyosis 2

Li2

Ichthyosis, Lamellar, 2, Formerly

Li2, Formerly

Ichthyosis Lamellar 2

Lamellar Ichthyosis, Type 2

Ichthyosis, Lamellar 2

Ichthyosis, Congenital, Autosomal Recessive, Type 4a
Johanson-Blizzard Syndrome

JBS

Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness

Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia And Congenital Deafness

Johanson Blizzard Syndrome
Spinal Muscular Atrophy, X-Linked 2

SMAX2

Arthrogryposis Multiplex Congenita, Distal, X-Linked

Infantile-Onset X-Linked Spinal Muscular Atrophy

Xlsma

Amcx1

Spinal Muscular Atrophy, X-Linked Lethal Infantile

Spinal Muscular Atrophy, Infantile X-Linked

Amc, Distal, X-Linked

Spinal Muscular Atrophy, X-Linked 2, Infantile

X-Linked Spinal Muscular Atrophy 2

Spinal Muscular Atrophy With Arthrogryposis

X-Linked Distal Arthrogryposis Multiplex Congenita

X-Linked Spinal Muscular Atrophy Type 2

Xl-Sma

Arthrogryposis, X-Linked, Type I

Spinal Muscular Atrophy, X-Linked Infantile

X-Linked Infantile Spinal Muscular Atrophy

Arthrogryposis, X-Lined, Type I

Distal X-Linked Amc

Infantile X-Linked Sma

X-Linked Arthrogryposis Multiplex Congenita

X-Linked Arthrogryposis Type I

X-Linked Lethal Infantile Sma

Arthrogryposis Spinal Muscular Atrophy

Spinal Muscular Atrophy X-Linked 2

Amc Distal X-Linked

Arthrogryposis Multiplex Congenita Distal X-Linked

Arthrogryposis X-Linked Type I

Spinal Muscular Atrophy Infantile X-Linked

Spinal Muscular Atrophy X-Linked Lethal Infantile

Atrophy, Muscular, Spinal, X-Linked, Type 2, Infantile
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-RS15324 UBA6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus UBA6 RGD RGD:1308324
Felis catus UBA6 VGNC VGNC:66750
Bos taurus UBA6 VGNC VGNC:36565
Canis familiaris UBA6 VGNC VGNC:48040
Macaca mulatta UBA6 VGNC VGNC:79514
Mus musculus UBA6 MGD MGI:1913894
Others UBA6 NCBI
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