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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes FDA approved drug targets Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
q21.33
Chromosome location (bp)
50184101 - 50201632
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Type I collagen is a member of group I collagen (fibrillar forming collagen)....show less
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from 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. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Biotech drugs Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Congenital malformations of skin Musculoskeletal diseases Skeletal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501[skeletal system development] GO:0001503[ossification] GO:0001568[blood vessel development] GO:0001649[osteoblast differentiation] GO:0001957[intramembranous ossification] GO:0001958[endochondral ossification] GO:0002020[protease binding] GO:0005201[extracellular matrix structural constituent] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005581[collagen trimer] GO:0005584[collagen type I trimer] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005788[endoplasmic reticulum lumen] GO:0005794[Golgi apparatus] GO:0007584[response to nutrient] GO:0007601[visual perception] GO:0007605[sensory perception of sound] GO:0009410[response to xenobiotic stimulus] GO:0009612[response to mechanical stimulus] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010812[negative regulation of cell-substrate adhesion] GO:0014070[response to organic cyclic compound] GO:0015031[protein transport] GO:0030020[extracellular matrix structural constituent conferring tensile strength] GO:0030141[secretory granule] GO:0030198[extracellular matrix organization] GO:0030199[collagen fibril organization] GO:0030335[positive regulation of cell migration] GO:0031012[extracellular matrix] GO:0031667[response to nutrient levels] GO:0031960[response to corticosteroid] GO:0032355[response to estradiol] GO:0032868[response to insulin] GO:0032964[collagen biosynthetic process] GO:0034504[protein localization to nucleus] GO:0034505[tooth mineralization] GO:0038063[collagen-activated tyrosine kinase receptor signaling pathway] GO:0042060[wound healing] GO:0042542[response to hydrogen peroxide] GO:0042802[identical protein binding] GO:0043434[response to peptide hormone] GO:0043588[skin development] GO:0043589[skin morphogenesis] GO:0044344[cellular response to fibroblast growth factor stimulus] GO:0044691[tooth eruption] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0048407[platelet-derived growth factor binding] GO:0048545[response to steroid hormone] GO:0048705[skeletal system morphogenesis] GO:0048706[embryonic skeletal system development] GO:0048856[anatomical structure development] GO:0051591[response to cAMP] GO:0055093[response to hyperoxia] GO:0060325[face morphogenesis] GO:0060346[bone trabecula formation] GO:0060351[cartilage development involved in endochondral bone morphogenesis] GO:0062023[collagen-containing extracellular matrix] GO:0071230[cellular response to amino acid stimulus] GO:0071260[cellular response to mechanical stimulus] GO:0071300[cellular response to retinoic acid] GO:0071306[cellular response to vitamin E] GO:0071356[cellular response to tumor necrosis factor] GO:0071364[cellular response to epidermal growth factor stimulus] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0110165[cellular anatomical entity] GO:1902617[response to fluoride] GO:1902618[cellular response to fluoride]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Congenital malformations of skin Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
