We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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).
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
q21.2
Chromosome location (bp)
150508062 - 150513789
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Angiogenesis, Biomineralization, Mineral balance, Osteogenesis
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]...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.
Q16610 [Direct mapping] Extracellular matrix protein 1
Show all
TMHMM 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 Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001503[ossification] GO:0001525[angiogenesis] GO:0001938[positive regulation of endothelial cell proliferation] GO:0002020[protease binding] GO:0005201[extracellular matrix structural constituent] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0007165[signal transduction] GO:0008022[protein C-terminus binding] GO:0010466[negative regulation of peptidase activity] GO:0019899[enzyme binding] GO:0030500[regulation of bone mineralization] GO:0030502[negative regulation of bone mineralization] GO:0031012[extracellular matrix] GO:0031089[platelet dense granule lumen] GO:0031214[biomineral tissue development] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043236[laminin binding] GO:0045766[positive regulation of angiogenesis] GO:0062023[collagen-containing extracellular matrix] GO:0070062[extracellular exosome]
Q16610 [Direct mapping] Extracellular matrix protein 1
Show all
A0A140VJI7 [Target identity:100%; Query identity:100%] Testicular tissue protein Li 61
Show all
TMHMM 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 Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001503[ossification] GO:0001525[angiogenesis] GO:0001938[positive regulation of endothelial cell proliferation] GO:0001960[negative regulation of cytokine-mediated signaling pathway] GO:0002020[protease binding] GO:0002063[chondrocyte development] GO:0002828[regulation of type 2 immune response] GO:0003416[endochondral bone growth] GO:0005134[interleukin-2 receptor binding] GO:0005201[extracellular matrix structural constituent] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006954[inflammatory response] GO:0007165[signal transduction] GO:0008022[protein C-terminus binding] GO:0010466[negative regulation of peptidase activity] GO:0019899[enzyme binding] GO:0030500[regulation of bone mineralization] GO:0030502[negative regulation of bone mineralization] GO:0031012[extracellular matrix] GO:0031089[platelet dense granule lumen] GO:0031214[biomineral tissue development] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043236[laminin binding] GO:0045766[positive regulation of angiogenesis] GO:0062023[collagen-containing extracellular matrix] GO:0070062[extracellular exosome] GO:2000404[regulation of T cell migration]
Q16610 [Direct mapping] Extracellular matrix protein 1
Show all
TMHMM 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 Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001503[ossification] GO:0001525[angiogenesis] GO:0001938[positive regulation of endothelial cell proliferation] GO:0002020[protease binding] GO:0005201[extracellular matrix structural constituent] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0007165[signal transduction] GO:0008022[protein C-terminus binding] GO:0010466[negative regulation of peptidase activity] GO:0019899[enzyme binding] GO:0030500[regulation of bone mineralization] GO:0030502[negative regulation of bone mineralization] GO:0031012[extracellular matrix] GO:0031089[platelet dense granule lumen] GO:0031214[biomineral tissue development] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043236[laminin binding] GO:0045766[positive regulation of angiogenesis] GO:0062023[collagen-containing extracellular matrix] GO:0070062[extracellular exosome]
The Human Protein Atlas project is funded
