|
Gene id |
7317 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
UBA1 Gene UCSC Ensembl |
|
Aliases |
A1S9, A1S9T, A1ST, AMCX1, CFAP124, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X |
|
Gene name |
ubiquitin like modifier activating enzyme 1 |
|
Alternate names |
ubiquitin-like modifier-activating enzyme 1, A1S9T and BN75 temperature sensitivity complementing, POC20 centriolar protein homolog, UBA1, ubiquitin-activating enzyme E1 homolog A, testicular secretory protein Li 63, |
|
Gene location |
Xp11.3 (47190846: 47215127) Exons: 31 NC_005117.4
|
|
Gene summary(Entrez) |
The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is
|
|
OMIM |
314370 |
|
|
|
|
| Associated diseases |
References |
| Rheumatoid arthritis | GAD: 19723899 |
| Spinal muscular atrophy | KEGG: H00455 |
| Influences spermatogenesis | MIK: 18560730 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Influences spermatogenesis | MIK: 18560730 |
| Male infertility | MIK: 15202508 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 18560730 |
Influences
spermatog
enesis
|
|
|
|
Male infertility |
|
Show abstract |
| 15202508 |
Influences
spermatog
enesis, ma
le inferti
lity
|
|
|
|
Male infertility |
|
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 |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|