|
Gene id |
7335 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
UBE2V1 Gene UCSC Ensembl |
|
Aliases |
CIR1, CROC-1, CROC1, UBE2V, UEV-1, UEV1, UEV1A |
|
Gene name |
ubiquitin conjugating enzyme E2 V1 |
|
Alternate names |
ubiquitin-conjugating enzyme E2 variant 1, DNA-binding protein, TRAF6-regulated IKK activator 1 beta Uev1A, |
|
Gene location |
20q13.13 (50115956: 50081123) Exons: 11 NC_000020.11
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
602995 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa05131 | Shigellosis | |
|
| Associated diseases |
References |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|