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Q9UMA6

- Q9UMA6_HUMAN

UniProt

Q9UMA6 - Q9UMA6_HUMAN

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Protein
Submitted name:

Type I collagen alpha 1 chain

Gene

COL1A1

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 4 out of 5- Protein predictedi

Functioni

GO - Molecular functioni

  1. extracellular matrix structural constituent Source: Ensembl

GO - Biological processi

  1. blood vessel development Source: Ensembl
  2. bone trabecula formation Source: Ensembl
  3. cartilage development involved in endochondral bone morphogenesis Source: Ensembl
  4. cellular response to amino acid stimulus Source: Ensembl
  5. cellular response to epidermal growth factor stimulus Source: Ensembl
  6. cellular response to fibroblast growth factor stimulus Source: Ensembl
  7. cellular response to fluoride Source: Ensembl
  8. cellular response to mechanical stimulus Source: Ensembl
  9. cellular response to retinoic acid Source: Ensembl
  10. cellular response to transforming growth factor beta stimulus Source: Ensembl
  11. cellular response to tumor necrosis factor Source: Ensembl
  12. cellular response to vitamin E Source: Ensembl
  13. endochondral ossification Source: Ensembl
  14. face morphogenesis Source: Ensembl
  15. intramembranous ossification Source: Ensembl
  16. negative regulation of cell-substrate adhesion Source: Ensembl
  17. osteoblast differentiation Source: Ensembl
  18. protein heterotrimerization Source: Ensembl
  19. protein transport Source: Ensembl
  20. response to cAMP Source: Ensembl
  21. response to corticosteroid Source: Ensembl
  22. response to drug Source: Ensembl
  23. response to estradiol Source: Ensembl
  24. response to hydrogen peroxide Source: Ensembl
  25. response to hyperoxia Source: Ensembl
  26. response to peptide hormone Source: Ensembl
  27. skin development Source: Ensembl
  28. tooth eruption Source: Ensembl
  29. wound healing Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Submitted name:
Type I collagen alpha 1 chainImported
Gene namesi
Name:COL1A1Imported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Subcellular locationi

GO - Cellular componenti

  1. collagen type I trimer Source: Ensembl
  2. endoplasmic reticulum Source: Ensembl
  3. extracellular space Source: Ensembl
  4. Golgi apparatus Source: Ensembl
  5. secretory granule Source: Ensembl
Complete GO annotation...

PTM / Processingi

Proteomic databases

PRIDEiQ9UMA6.

Expressioni

Gene expression databases

BgeeiQ9UMA6.
ExpressionAtlasiQ9UMA6. baseline and differential.

Family & Domainsi

Keywords - Domaini

CollagenImported

Sequencei

Sequence statusi: Fragment.

Q9UMA6-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20 
GEAGPQGPRG SEGPQGVRGE PGPPGPA
Length:27
Mass (Da):2,496
Last modified:May 1, 2000 - v1
Checksum:iE9BCD23967CEABCD
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Non-terminal residuei27 – 271Imported

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S58915 Genomic DNA. Translation: AAB26324.1.
UniGeneiHs.172928.
Hs.681002.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S58915 Genomic DNA. Translation: AAB26324.1 .
UniGenei Hs.172928.
Hs.681002.

3D structure databases

ModBasei Search...
MobiDBi Search...

Proteomic databases

PRIDEi Q9UMA6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Miscellaneous databases

ChiTaRSi COL1A1. human.

Gene expression databases

Bgeei Q9UMA6.
ExpressionAtlasi Q9UMA6. baseline and differential.

Family and domain databases

ProtoNeti Search...

Publicationsi

  1. "Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta."
    Cohn D.H., Zhang X., Byers P.H.
    Hum. Mutat. 2:21-27(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.

Entry informationi

Entry nameiQ9UMA6_HUMAN
AccessioniPrimary (citable) accession number: Q9UMA6
Entry historyi
Integrated into UniProtKB/TrEMBL: May 1, 2000
Last sequence update: May 1, 2000
Last modified: November 26, 2014
This is version 54 of the entry and version 1 of the sequence. [Complete history]
Entry statusiUnreviewed (UniProtKB/TrEMBL)
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.