2. Gene
  3. UBA6 - ubiquitin like modifier activating enzyme 6 Gene

UBA6 - ubiquitin like modifier activating enzyme 6 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 55236 | Gene type: protein coding

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 Reference 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 Reference 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15324 UBA6 Human Pre-designed siRNA Set A Pre-designed Sets / 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