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Gene id |
29979 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
UBQLN1 Gene UCSC Ensembl |
|
Aliases |
DA41, DSK2, PLIC-1, UBQN, XDRP1 |
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Gene name |
ubiquilin 1 |
|
Alternate names |
ubiquilin-1, hPLIC-1, protein linking IAP with cytoskeleton 1, testicular tissue protein Li 219, |
|
Gene location |
9q21.2-q21.3 (83707978: 83659967) Exons: 12 NC_000009.12
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|
Gene summary(Entrez) |
This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physica
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OMIM |
605046 |
|
| Pathway id | Pathway name |
|---|
| hsa04141 | Protein processing in endoplasmic reticulum | |
|
| Associated diseases |
References |
| Alzheimer's disease | GAD: 18340109 |
| Role in regulation of protein ubiquitination during spermiogenesis | MIK: 20558241 |
| Role in regulation of protein ubiquitination during spermiogenesis | MIK: 20558241 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 20558241 |
Role in re
gulation o
f protein
ubiquitina
tion durin
g spermiog
enesis
|
|
|
|
Male infertility |
|
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 |
|