UBE2D1 - ubiquitin conjugating enzyme E2 D1 Gene

Homo sapiens

Also known as SFT; UBCH5; UBC4/5; UBCH5A; E2(17)KB1

Gene ID: 7321 | Gene type: protein coding

About UBE2D1

Cytogenetic location: 10q21.1 Genomic coordinates (GRCh38): 10:58,335,006-58,370,748 (from NCBI)

This gene has 4 transcripts (splice variants), 274 orthologues and 12 paralogues. Ubiquitous expression in bone marrow (RPKM 16.4), appendix (RPKM 13.7) and 25 other tissues.

Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating Enzymes, or E1s, ubiquitin-conjugating Enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating Enzyme family. This Enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating Enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

UBE2D1 Products(2)

mRNA	Protein	Name
NM_001204880.2	NP_001191809.1	ubiquitin-conjugating enzyme E2 D1 isoform 2
NM_003338.5	NP_003329.1	ubiquitin-conjugating enzyme E2 D1 isoform 1

UBE2D1 Protein Structure

UQ_con

0
100
147 a.a.

Protein Preferred Names

Protein Names

ubiquitin-conjugating enzyme E2 D1

(E3-independent) E2 ubiquitin-conjugating enzyme D1

Recombinant UBE2D1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71399	UBE2D1 Protein, Human (GST)	P51668 (M1-M147)	≥95%

Related Diseases

Diseases

Alias

Tonne-Kalscheuer Syndrome

TOKAS	Mrx61
Intellectual Developmental Disorder With Or Without Hand And Foot Anomalies, Genital Anomalies, Or Congenital Diaphragmatic Hernia	Mental Retardation, X-Linked 61
X-Linked Mental Retardation 61

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

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

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-RS15339	UBE2D1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	UBE2D1	VGNC	VGNC:48050
Macaca mulatta	UBE2D1	VGNC	VGNC:78693
Felis catus	UBE2D1	VGNC	VGNC:66758
Rattus norvegicus	UBE2D1	RGD	RGD:1307886
Mus musculus	UBE2D1	MGD	MGI:2384911
Bos taurus	UBE2D1	VGNC	VGNC:36579
Others	UBE2D1	NCBI

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