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  2. UBE2D1 - ubiquitin conjugating enzyme E2 D1 Gene

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

UQ_con: Ubiquitin-conjugating enzyme (5 - 141)

  • 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

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