|
Gene id |
51465 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
UBE2J1 Gene UCSC Ensembl |
|
Aliases |
CGI-76, HSPC153, HSPC205, HSU93243, NCUBE-1, NCUBE1, UBC6, UBC6E, Ubc6p |
|
Gene name |
ubiquitin conjugating enzyme E2 J1 |
|
Alternate names |
ubiquitin-conjugating enzyme E2 J1, E2 ubiquitin-conjugating enzyme J1, HSUBC6e, non-canonical ubiquitin-conjugating enzyme 1, ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast), ubiquitin-conjugating enzyme E2, J1, U, yeast ubiquitin-conjugating enzyme , |
|
Gene location |
6q15 (89353154: 89326624) Exons: 8 NC_000016.10
|
|
Gene summary(Entrez) |
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conju
|
|
OMIM |
616175 |
|
| Pathway id | Pathway name |
|---|
| hsa05012 | Parkinson disease | | hsa04141 | Protein processing in endoplasmic reticulum | | hsa05012 | Parkinson disease | | hsa04120 | Ubiquitin mediated proteolysis | |
|
| Associated diseases |
References |
| Spermatogeneisis defects | MIK: 25320092 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Required for spermiogenesis | MIK: 25320092 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 25320092 |
Required f
or spermio
genesis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|