2. Gene
  3. UBE2K - ubiquitin conjugating enzyme E2 K Gene

UBE2K - ubiquitin conjugating enzyme E2 K Gene

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

中文名称：泛素结合酶 E2 K

种属: Homo sapiens

同用名: LIG; HIP2; HYPG; UBC1; E2-25K

基因 ID: 3093 | 基因类型: protein coding

关于 UBE2K

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:39,698,136-39,782,792 (from NCBI)

This gene has 7 transcripts (splice variants), 282 orthologues and 24 paralogues. Ubiquitous expression in brain (RPKM 24.1), thyroid (RPKM 17.9) and 25 other tissues.

功能概要

该基因编码的蛋白质属于泛素结合酶家族。这种蛋白质与无名指蛋白相互作用，它可以泛素化亨廷顿氏病的基因产物亨廷顿蛋白。这种蛋白质的已知功能包括在扩展的聚谷氨酰胺蛋白的聚集体形成中发挥作用，在多聚谷氨酰胺疾病中抑制细胞凋亡，在新合成的 MHC I 类重链从内质网脱位中发挥作用，并参与泡沫细胞形成。已经为该基因鉴定了编码不同亚型的多个转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene belongs to the ubiquitin-conjugating Enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate Huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of Apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

UBE2K 基因产物(6)

mRNA Protein Name
NM_001111112.2 NP_001104582.1 ubiquitin-conjugating enzyme E2 K isoform 2
NM_001111113.2 NP_001104583.1 ubiquitin-conjugating enzyme E2 K isoform 3
NM_001312646.2 NP_001299575.1 ubiquitin-conjugating enzyme E2 K isoform 4
NM_001312647.2 NP_001299576.1 ubiquitin-conjugating enzyme E2 K isoform 5 precursor
NM_001312648.2 NP_001299577.1 ubiquitin-conjugating enzyme E2 K isoform 5 precursor
NM_005339.5 NP_005330.1 ubiquitin-conjugating enzyme E2 K isoform 1

UBE2K 蛋白结构

UQ_con

UQ_con: Ubiquitin-conjugating enzyme (8 - 147)

UBA

UBA: UBA/TS-N domain (162 - 197)

  • 0
  • 100
  • 200 a.a.
蛋白主名 其他名称

ubiquitin-conjugating enzyme E2 K

E2 ubiquitin-conjugating enzyme K

重组 UBE2K 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71405 UBE2K Protein, Human (GST) P61086 (M1-N200) ≥95%

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language

Chromosome 5q14.3 Deletion Syndrome

5q14.3 Microdeletion Syndrome

Mental Retardation, Autosomal Dominant 20

NEDHSIL

Autosomal Dominant Mental Retardation 20

Mrd20

Del(5)(Q14.3)

Monosomy 5q14.3

Intellectual Disability, Autosomal Dominant 20

Mental Retardation, Autosomal Dominant 20, Formerly

Mrd20, Formerly

Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations

5q14.3 Deletion Syndrome

Autosomal Dominant Intellectual Disability 20

Mental Retardation, Autosomal Dominant, Type 20
Liddle Syndrome 1

Liddle Syndrome

Pseudoaldosteronism

Liddle'S Syndrome

LIDLS1

Lidls

Pseudohyperaldosteronism

Pseudoprimary Hyperaldosteronism

Pseudohyperaldosteronism Type 1

Liddles Syndrome
Uterine Adnexa Cancer
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1

Hypophosphatemic Nephrolithiasis/Osteoporosis 1

NPHLOP1

Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1

Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma
Cortical Dysplasia, Complex, With Other Brain Malformations 6

Complex Cortical Dysplasia With Other Brain Malformations 6

CDCBM6

Cdcbm56

Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 6
Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea
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-RS15352 UBE2K Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus UBE2K RGD RGD:1311626
Bos taurus UBE2K VGNC VGNC:36587
Macaca mulatta UBE2K VGNC VGNC:79957
Mus musculus UBE2K MGD MGI:1858216
Felis catus UBE2K VGNC VGNC:80098
Canis familiaris UBE2K VGNC VGNC:48057
Others UBE2K NCBI
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