|
Gene id |
4086 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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|
Gene Symbol |
SMAD1 Gene UCSC Ensembl |
|
Aliases |
BSP-1, BSP1, JV4-1, JV41, MADH1, MADR1 |
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Gene name |
SMAD family member 1 |
|
Alternate names |
mothers against decapentaplegic homolog 1, MAD, mothers against decapentaplegic homolog 1, Mad-related protein 1, SMAD, mothers against DPP homolog 1, TGF-beta signaling protein 1, mothers against DPP homolog 1, transforming growth factor-beta signaling protein, |
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Gene location |
4q31.21 (145481305: 145559175) Exons: 12 NC_000008.11
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|
Gene summary(Entrez) |
The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional mo
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|
OMIM |
601595 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
|
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| Pathway id | Pathway name |
|---|
| hsa04550 | Signaling pathways regulating pluripotency of stem cells | | hsa05202 | Transcriptional misregulation in cancer | | hsa05202 | Transcriptional misregulation in cancer | | hsa04390 | Hippo signaling pathway | | hsa04350 | TGF-beta signaling pathway | | hsa04550 | Signaling pathways regulating pluripotency of stem cells | |
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| Associated diseases |
References |
| Head and neck cancer | GAD: 20819778 |
| Hypertension | GAD: 19211612 |
| Hemochromatosis | GAD: 17847004 |
| Cleft defects | GAD: 20634891 |
| Obesity | GAD: 20734064 |
| Diabetes | GAD: 19247629 |
| Spermatogenesis defects | MIK: 22051847 |
| Spermatogenesis defects | MIK: 9076678 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Role in spermatogenesis | MIK: 22051847 |
| Role in the initiation and maintenance of spermatogenesis in the mouse | MIK: 9076678 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 9076678 |
Role in th
e initiati
on and mai
ntenance o
f spermato
genesis in
the mouse
|
|
|
|
Male infertility |
|
Show abstract |
| 22051847 |
Role in sp
ermatogene
sis
|
|
|
|
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 |
|