Gene Gene information from NCBI Gene database.
Entrez ID 7335
Gene name Ubiquitin conjugating enzyme E2 V1
Gene symbol UBE2V1
Synonyms (NCBI Gene)
CIR1CROC-1CROC1UBE2VUEV-1UEV1UEV1A
Chromosome 20
Chromosome location 20q13.13
Summary Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic
miRNA miRNA information provided by mirtarbase database.
1739
miRTarBase ID miRNA Experiments Reference
MIRT001400 hsa-miR-16-5p pSILAC 18668040
MIRT464716 hsa-miR-1272 HITS-CLIP 19536157
MIRT464715 hsa-miR-1322 HITS-CLIP 19536157
MIRT464714 hsa-miR-6716-5p HITS-CLIP 19536157
MIRT621676 hsa-miR-548ac HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IDA 16307917
GO:0000209 Process Protein polyubiquitination TAS 10089880
GO:0005515 Function Protein binding IPI 16129784, 16307917, 19549727, 22367539, 25260751, 25416956, 31515488, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602995 12494 ENSG00000244687
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13404
Protein name Ubiquitin-conjugating enzyme E2 variant 1 (UEV-1) (CROC-1) (TRAF6-regulated IKK activator 1 beta Uev1A)
Protein function Has no ubiquitin ligase activity on its own. The UBE2V1-UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through Lys-63. This type of poly-ubiquitination activates IKK and does not seem to involve
PDB 2A4D , 2C2V , 2HLW , 6D6I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00179 UQ_con 16 144 Ubiquitin-conjugating enzyme Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in thyroid, pancreas, spinal cord, lymph node, trachea, adrenal gland, bone marrow and pancreas. Detected at low levels in heart, breast, placenta, brain, liver, kidney, stomach and lung. {ECO:0000269|PubMed:9418904, E
Sequence
Sequence length 147
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Shigellosis   NOD1/2 Signaling Pathway
TICAM1, RIP1-mediated IKK complex recruitment
Downstream TCR signaling
FCERI mediated NF-kB activation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
activated TAK1 mediates p38 MAPK activation
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
CLEC7A (Dectin-1) signaling
Interleukin-1 signaling
IRAK1 recruits IKK complex
IKK complex recruitment mediated by RIP1
Aggrephagy
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
DUODENITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROENTERITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
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
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 29662619
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 29662619
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31847356
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33076555 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 27928708, 30157956, 30315897, 31067307
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25022892, 27909234, 31827405
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34503444 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 34503444 Associate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 23726813
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 29662619
★☆☆☆☆
Found in Text Mining only