UBE2K - ubiquitin conjugating enzyme E2 K Gene

Homo sapiens

Also known as LIG; HIP2; HYPG; UBC1; E2-25K

Gene ID: 3093 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

UQ_con

UBA

0
100
200 a.a.

Protein Preferred Names

Protein Names

ubiquitin-conjugating enzyme E2 K

E2 ubiquitin-conjugating enzyme K

Recombinant UBE2K Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71405	UBE2K Protein, Human (GST)	P61086 (M1-N200)	≥95%

Related Diseases

Diseases

Alias

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

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-RS15352	UBE2K Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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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