UBA6 - ubiquitin like modifier activating enzyme 6 Gene

Also Known as E1-L2; MOP-4; UBE1L2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55236

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_018227.6 NP_060697.4 ubiquitin-like modifier-activating enzyme 6

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables FAT10 activating enzyme activity IMP
IMP: Inferred from mutant phenotype
17889673 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17889673 GOA
Biological Process GO Annotation Evidence References Source
involved in protein ubiquitination IMP
IMP: Inferred from mutant phenotype
17889673 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
17889673 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UBA6 Protein Structure

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.
Protein Preferred Names Protein Names

ubiquitin-like modifier-activating enzyme 6

  • UBA6, ubiquitin-activating enzyme E1

UBA6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
UBA6 A0AVT1 HMBOX1 Homo sapiens Q6NT76
Validated Y2H
25416956
Intra
UBA6 A0AVT1 HMBOX1 Homo sapiens Q6NT76
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
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

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-153774 UBA6-IN-1 Inhibitor / Unkown
HY-RS15324 UBA6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19393 Uba6 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25885 Uba6 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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