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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
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
X
Cytoband
q26.2
Chromosome location (bp)
133535745 - 133987100
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Cell surface proteoglycan 1. Negatively regulates the hedgehog signaling pathway when attached via the GPI-anchor to the cell surface by competing with the hedgehog receptor PTC1 for binding to hedgehog proteins (By similarity). Binding to the hedgehog protein SHH triggers internalization of the complex by endocytosis and its subsequent lysosomal degradation (By similarity). Positively regulates the canonical Wnt signaling pathway by binding to the Wnt receptor Frizzled and stimulating the binding of the Frizzled receptor to Wnt ligands 2,3. Positively regulates the non-canonical Wnt signaling pathway (By similarity). Binds to CD81 which decreases the availability of free CD81 for binding to the transcriptional repressor HHEX, resulting in nuclear translocation of HHEX and transcriptional repression (By similarity). Inhibits the dipeptidyl peptidase activity of DPP4 4. Plays a role in limb patterning and skeletal development by controlling the cellular response to BMP4 (By similarity). Modulates the effects of growth factors BMP2, BMP7 and FGF7 on renal branching morphogenesis (By similarity). Required for coronary vascular development (By similarity). Plays a role in regulating cell movements during gastrulation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Protease inhibitor
Gene summary (Entrez)i
Useful information about the gene from Entrez
Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 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 membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations 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:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0005515[protein binding] GO:0005764[lysosome] GO:0005788[endoplasmic reticulum lumen] GO:0005796[Golgi lumen] GO:0005886[plasma membrane] GO:0007224[smoothened signaling pathway] GO:0008285[negative regulation of cell population proliferation] GO:0009617[response to bacterium] GO:0009653[anatomical structure morphogenesis] GO:0009887[animal organ morphogenesis] GO:0009948[anterior/posterior axis specification] GO:0009966[regulation of signal transduction] GO:0009986[cell surface] GO:0010171[body morphogenesis] GO:0010466[negative regulation of peptidase activity] GO:0016020[membrane] GO:0016477[cell migration] GO:0030282[bone mineralization] GO:0030316[osteoclast differentiation] GO:0030324[lung development] GO:0030414[peptidase inhibitor activity] GO:0030513[positive regulation of BMP signaling pathway] GO:0035116[embryonic hindlimb morphogenesis] GO:0040008[regulation of growth] GO:0042074[cell migration involved in gastrulation] GO:0043202[lysosomal lumen] GO:0045732[positive regulation of protein catabolic process] GO:0045807[positive regulation of endocytosis] GO:0045879[negative regulation of smoothened signaling pathway] GO:0045880[positive regulation of smoothened signaling pathway] GO:0045926[negative regulation of growth] GO:0046326[positive regulation of glucose import] GO:0046658[anchored component of plasma membrane] GO:0050673[epithelial cell proliferation] GO:0050680[negative regulation of epithelial cell proliferation] GO:0060070[canonical Wnt signaling pathway] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0060422[peptidyl-dipeptidase inhibitor activity] GO:0060828[regulation of canonical Wnt signaling pathway] GO:0060976[coronary vasculature development] GO:0062023[collagen-containing extracellular matrix] GO:0072111[cell proliferation involved in kidney development] GO:0072138[mesenchymal cell proliferation involved in ureteric bud development] GO:0072180[mesonephric duct morphogenesis] GO:0072203[cell proliferation involved in metanephros development] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:1905475[regulation of protein localization to membrane] GO:2000050[regulation of non-canonical Wnt signaling pathway] GO:2000096[positive regulation of Wnt signaling pathway, planar cell polarity pathway]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations 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:0005515[protein binding] GO:0005788[endoplasmic reticulum lumen] GO:0005796[Golgi lumen] GO:0005886[plasma membrane] GO:0009653[anatomical structure morphogenesis] GO:0009966[regulation of signal transduction] GO:0009986[cell surface] GO:0010466[negative regulation of peptidase activity] GO:0016020[membrane] GO:0016477[cell migration] GO:0030414[peptidase inhibitor activity] GO:0042074[cell migration involved in gastrulation] GO:0043202[lysosomal lumen] GO:0045732[positive regulation of protein catabolic process] GO:0045807[positive regulation of endocytosis] GO:0045879[negative regulation of smoothened signaling pathway] GO:0046658[anchored component of plasma membrane] GO:0060422[peptidyl-dipeptidase inhibitor activity] GO:0060828[regulation of canonical Wnt signaling pathway] GO:0060976[coronary vasculature development] GO:0062023[collagen-containing extracellular matrix] GO:0072111[cell proliferation involved in kidney development] GO:0072138[mesenchymal cell proliferation involved in ureteric bud development] GO:0072180[mesonephric duct morphogenesis] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:1905475[regulation of protein localization to membrane] GO:2000050[regulation of non-canonical Wnt signaling pathway]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the urinary system Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations 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:0005515[protein binding] GO:0005788[endoplasmic reticulum lumen] GO:0005796[Golgi lumen] GO:0005886[plasma membrane] GO:0009653[anatomical structure morphogenesis] GO:0009966[regulation of signal transduction] GO:0009986[cell surface] GO:0010466[negative regulation of peptidase activity] GO:0016020[membrane] GO:0016477[cell migration] GO:0030414[peptidase inhibitor activity] GO:0042074[cell migration involved in gastrulation] GO:0043202[lysosomal lumen] GO:0045732[positive regulation of protein catabolic process] GO:0045807[positive regulation of endocytosis] GO:0045879[negative regulation of smoothened signaling pathway] GO:0046658[anchored component of plasma membrane] GO:0060422[peptidyl-dipeptidase inhibitor activity] GO:0060828[regulation of canonical Wnt signaling pathway] GO:0060976[coronary vasculature development] GO:0062023[collagen-containing extracellular matrix] GO:0072111[cell proliferation involved in kidney development] GO:0072138[mesenchymal cell proliferation involved in ureteric bud development] GO:0072180[mesonephric duct morphogenesis] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:1905475[regulation of protein localization to membrane] GO:2000050[regulation of non-canonical Wnt signaling pathway]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
