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Gene id |
57154 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
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Gene Symbol |
SMURF1 Gene UCSC Ensembl |
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Gene name |
SMAD specific E3 ubiquitin protein ligase 1 |
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Alternate names |
E3 ubiquitin-protein ligase SMURF1, E3 ubiquitin ligase SMURF1, HECT-type E3 ubiquitin transferase SMURF1, Smad ubiquitination regulatory factor 1, Smad-specific E3 ubiquitin ligase 1, hSMURF1, |
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Gene location |
7q22.1 (99144117: 99027434) Exons: 19 NC_000010.11
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Gene summary(Entrez) |
This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative s
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OMIM |
605568 |
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| Associated diseases |
References |
| Colorectal cancer | GAD: 20844743 |
| Ulcerative colitis | GAD: 20228798 |
| Important for testosterone production in Leydig cells | MIK: 29565736 |
| Cryptorchidism | MIK: 28606200 |
| Important for testosterone production in Leydig cells | MIK: 29565736 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29565736 |
Important
for testos
terone pro
duction in
Leydig ce
lls
|
|
|
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Male infertility |
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Show abstract |
| 28606200 |
Cryptorchi
dism
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Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
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Show abstract |
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