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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 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
1
Cytoband
p21.1
Chromosome location (bp)
102876467 - 103108872
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils....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 one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]...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.
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Musculoskeletal diseases Skeletal diseases Nervous system diseases Eye disease Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005201[extracellular matrix structural constituent] GO:0005576[extracellular region] GO:0005581[collagen trimer] GO:0005592[collagen type XI trimer] GO:0005615[extracellular space] GO:0005788[endoplasmic reticulum lumen] GO:0007601[visual perception] GO:0007605[sensory perception of sound] GO:0030020[extracellular matrix structural constituent conferring tensile strength] GO:0030198[extracellular matrix organization] GO:0030199[collagen fibril organization] GO:0030674[protein-macromolecule adaptor activity] GO:0031012[extracellular matrix] GO:0035987[endodermal cell differentiation] GO:0046872[metal ion binding] GO:0050840[extracellular matrix binding] GO:0050910[detection of mechanical stimulus involved in sensory perception of sound] GO:0062023[collagen-containing extracellular matrix]
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 Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Musculoskeletal diseases Skeletal diseases Nervous system diseases Eye disease Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005201[extracellular matrix structural constituent] GO:0005576[extracellular region] GO:0005581[collagen trimer] GO:0005592[collagen type XI trimer] GO:0005615[extracellular space] GO:0005788[endoplasmic reticulum lumen] GO:0007601[visual perception] GO:0007605[sensory perception of sound] GO:0030020[extracellular matrix structural constituent conferring tensile strength] GO:0030198[extracellular matrix organization] GO:0030199[collagen fibril organization] GO:0030674[protein-macromolecule adaptor activity] GO:0031012[extracellular matrix] GO:0035987[endodermal cell differentiation] GO:0046872[metal ion binding] GO:0050840[extracellular matrix binding] GO:0050910[detection of mechanical stimulus involved in sensory perception of sound] GO:0062023[collagen-containing extracellular matrix]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Musculoskeletal diseases Skeletal diseases Nervous system diseases Eye disease Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Musculoskeletal diseases Skeletal diseases Nervous system diseases Eye disease Ear disease Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Musculoskeletal diseases Skeletal diseases Nervous system diseases Eye disease Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005201[extracellular matrix structural constituent] GO:0005576[extracellular region] GO:0005581[collagen trimer] GO:0005592[collagen type XI trimer] GO:0005615[extracellular space] GO:0005788[endoplasmic reticulum lumen] GO:0007601[visual perception] GO:0007605[sensory perception of sound] GO:0030020[extracellular matrix structural constituent conferring tensile strength] GO:0030198[extracellular matrix organization] GO:0030199[collagen fibril organization] GO:0030674[protein-macromolecule adaptor activity] GO:0031012[extracellular matrix] GO:0035987[endodermal cell differentiation] GO:0046872[metal ion binding] GO:0050840[extracellular matrix binding] GO:0050910[detection of mechanical stimulus involved in sensory perception of sound] GO:0062023[collagen-containing extracellular matrix]
The Human Protein Atlas project is funded
