Gene Gene information from NCBI Gene database.
Entrez ID 55236
Gene name Ubiquitin like modifier activating enzyme 6
Gene symbol UBA6
Synonyms (NCBI Gene)
E1-L2MOP-4UBE1L2
Chromosome 4
Chromosome location 4q13.2
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 E
miRNA miRNA information provided by mirtarbase database.
555
miRTarBase ID miRNA Experiments Reference
MIRT023853 hsa-miR-1-3p Proteomics 18668040
MIRT052594 hsa-let-7a-5p CLASH 23622248
MIRT049880 hsa-miR-31-5p CLASH 23622248
MIRT045891 hsa-miR-125b-5p CLASH 23622248
MIRT040121 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004839 Function Ubiquitin activating enzyme activity IBA
GO:0004839 Function Ubiquitin activating enzyme activity IEA
GO:0005515 Function Protein binding IPI 17889673, 25416956, 25422469
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611361 25581 ENSG00000033178
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0AVT1
Protein name Ubiquitin-like modifier-activating enzyme 6 (Ubiquitin-activating enzyme 6) (EC 6.2.1.45) (Monocyte protein 4) (MOP-4) (Ubiquitin-activating enzyme E1-like protein 2) (E1-L2)
Protein function Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP (PubMed:35970836, PubMed:35986001
PDB 7PVN , 7PYV , 7SOL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00899 ThiF 44 435 ThiF family Domain
PF16190 E1_FCCH 224 293 Ubiquitin-activating enzyme E1 FCCH domain Domain
PF16191 E1_4HB 294 362 Ubiquitin-activating enzyme E1 four-helix bundle Domain
PF00899 ThiF 442 948 ThiF family Domain
PF10585 UBA_e1_thiolCys 631 884 Ubiquitin-activating enzyme active site Domain
PF09358 E1_UFD 955 1043 Ubiquitin fold domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Isoform 2 is predominantly expressed in testis with higher expression in adult testis than in fetal testis. {ECO:0000269|PubMed:15202508, ECO:0000269|PubMed:17597759}.
Sequence
MEGSEPVAAHQGEEASCSSWGTGSTNKNLPIMSTASVEIDDALYSRQRYVLGDTAMQKMA
KSHVFLSGMGGLGLEIAKNLVLAGIKAVTIHDTEKCQAWDLGTNFFLSEDDVVNKRNRAE
AVLKHIAELNPYVHVTSSSVPFNETTDLSFLDKYQCVVLTEMKLPLQKKINDFCRSQCPP
IKFISADVHGIWSRLFCDFGDEFEVLDTTGEEPKEIFISNITQ
ANPGIVTCLENHPHKLE
TGQFLTFREINGMTGLNGSIQQITVISPFSFSIGDTTELEPYLHGGIAVQVKT
PKTVFFE
SLERQLKHPKCLIVDFSNPEAPLEIHTAMLALDQFQEKYSRKPNVGCQQDSEELLKLATS
IS
ETLEEKPDVNADIVHWLSWTAQGFLSPLAAAVGGVASQEVLKAVTGKFSPLCQWLYLE
AADIVESLGKPECEE
FLPRGDRYDALRACIGDTLCQKLQNLNIFLVGCGAIGCEMLKNFA
LLGVGTSKEKGMITVTDPDLIEKSNLNRQFLFRPHHIQKPKSYTAADATLKINSQIKIDA
HLNKVCPTTETIYNDEFYTKQDVIITALDNVEARRYVDSRCLANLRPLLDSGTMGTKGHT
EVIVPHLTESYNSHRDPPEEEIPFCTLKSF
PAAIEHTIQWARDKFESSFSHKPSLFNKFW
QTYSSAEEVLQKIQSGHSLEGCFQVIKLLSRRPRNWSQCVELARLKFEKYFNHKALQLLH
CFPLDIRLKDGSLFWQSPKRPPSPIKFDLNEPLHLSFLQNAAKLYATVYCIPFAEEDLSA
DALLNILSEVKIQEFKPSNKVVQTDETARKPDHVPISSEDERNAIFQLEKAILSNEATKS
DLQMAVLSFEKDDDHNGHIDFITAASNLRAKMYSIEPADRFKTK
RIAGKIIPAIATTTAT
VSGLVALEMIKVTGGYPFEAYKNCFLNLAIPIVVFTETTEVRKTKIRN
GISFTIWDRWTV
HGKEDFTLLDFINAVKEKYGIEPTMVVQGVKMLYVPVMPGHAKRLKLTMHKLVKPTTEKK
YVDLTVSFAPDIDGDEDLPGPPV
RYYFSHDTD
Sequence length 1052
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis   Synthesis of active ubiquitin: roles of E1 and E2 enzymes
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
INTELLECTUAL DISABILITY Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aneuploidy Aneuploidy Pubtator 36576405 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 32127416 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 31060776
★☆☆☆☆
Found in Text Mining only
Behavior Disorders Behavior Disorders BEFREE 26284580
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29152096
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 29152096
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma Pubtator 36576405 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28376205
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 26284580
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast Breast Cancer BEFREE 29152096
★☆☆☆☆
Found in Text Mining only