|
Gene id |
5449 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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|
Gene Symbol |
POU1F1 Gene UCSC Ensembl |
|
Aliases |
CPHD1, GHF-1, PIT1, POU1F1a, Pit-1 |
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Gene name |
POU class 1 homeobox 1 |
|
Alternate names |
pituitary-specific positive transcription factor 1, POU domain, class 1, transcription factor 1, growth hormone factor 1, pituitary transcript factor 1, |
|
Gene location |
3p11.2 (87276583: 87259403) Exons: 6 NC_000010.11
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|
Gene summary(Entrez) |
This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combin
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OMIM |
173110 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
|
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| Pathway id | Pathway name |
|---|
| hsa04935 | Growth hormone synthesis, secretion and action | |
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| Associated diseases |
References |
| Cancer (breast) | GAD: 20634197 |
| Esophageal adenocarcinoma | GAD: 20453000 |
| Thyroid diseases | GAD: 18514160 |
| Combined pituitary hormone deficiency | GAD: H02036 |
| Obesity | GAD: 20734064 |
| Growth hormone deficiency | GAD: H00254 |
| Mental retardation | GAD: 16505001 |
| Spermatogenesis defects | MIK: 21745476 |
| Hypopituitarism | GAD: 20534763 |
| Role In spermatogenesis | MIK: 21745476 |
| Teratozoospermia | MIK: 17327269 |
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|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 21745476 |
Role In sp
ermatogene
sis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
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|
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13 (5 controls,
8 cases)
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Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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Show abstract |
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