|
Gene id |
1277 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
COL1A1 Gene UCSC Ensembl |
|
Aliases |
EDSARTH1, EDSC, OI1, OI2, OI3, OI4 |
|
Gene name |
collagen type I alpha 1 chain |
|
Alternate names |
collagen alpha-1(I) chain, alpha-1 type I collagen, alpha1(I) procollagen, collagen alpha 1 chain type I, collagen alpha-1(I) chain preproprotein, collagen of skin, tendon and bone, alpha-1 chain, collagen, type I, alpha 1, pro-alpha-1 collagen type 1, type I pr, |
|
Gene location |
17q21.33 (50201648: 50184095) Exons: 51 NC_000017.11
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|
Gene summary(Entrez) |
This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutati
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|
OMIM |
120150 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Cancer | GAD: 18634290 |
| Infantile cortical hyperostosis | KEGG: H00613 |
| Osteogenesis imperfecta | GAD: 9752968 |
| Myopia | GAD: 19260140 |
| Beta-thalassemia | GAD: 19143970 |
| Periodontitis | GAD: 15081423 |
| Achondroplasia | GAD: 2991928 |
| Bone diseases | GAD: 11547832 |
| Osteoarthritis | GAD: 8129781 |
| Osteoporosis | GAD: 17201588 |
| Osteoporosis | GAD: 12575457 |
| Alzheimer's disease | GAD: 19141999 |
| Mild chondrodysplasia | GAD: 2300123 |
| Hearing Loss | GAD: 15241796 |
| Otosclerosis | GAD: 15211650 |
| Preeclampsia | GAD: 17179726 |
| Recurrent pregnancy loss (RPL) | GAD: 11383910 |
| Prevalent fractures | GAD: 11547828 |
| Polycystic ovary syndrome (PCOS) | INFBASE: 14665701 |
| Premature ovarian failure (POF) | INFBASE: 23858805 |
| Unexplained infertility | INFBASE: 12468644 |
| Female infertility | INFBASE: 14665701 |
| Male factor infertility | MIK: 12491092 |
| Connective tissue diseases | GAD: 19527514 |
| Dwarfism | GAD: 18681778 |
| Spondylometaphyseal dysplasia | GAD: 7738948 |
| Lumbar disc disease | GAD: 15994869 |
| Elers-Danlose syndrome | KEGG: H00802 |
| Urogenital abnormalities | GAD: 16458627 |
| Sertoli cell-only syndrome | MIK: 30478911 |
| Male infertility | MIK: 30478911 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
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|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 30478911 |
Sertoli ce
ll-only sy
ndrome, Ma
le inferti
lity
|
|
|
39 Sertoli cell
-only syndrome
infertile patie
nts
|
Male infertility |
HOXD9
SYCE1
COL1A1
H19 and KCNQ1
|
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 |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|