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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).
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
17
Cytoband
q21.31
Chromosome location (bp)
44345246 - 44353106
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation 1,2,3,4,5. Regulates protein trafficking to lysosomes and, also the activity of lysosomal enzymes 6,7. Facilitates also the acidification of lysosomes, causing degradation of mature CTSD by CTSB 8. In addition, functions as a wound-related growth factor that acts directly on dermal fibroblasts and endothelial cells to promote division, migration and the formation of capillary-like tubule structures (By similarity). Also promotes epithelial cell proliferation by blocking TNF-mediated neutrophil activation preventing release of oxidants and proteases 9. Moreover, modulates inflammation in neurons by preserving neurons survival, axonal outgrowth and neuronal integrity 10....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Cytokine
Gene summary (Entrez)i
Useful information about the gene from Entrez
Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 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.
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 Lysosomal storage diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002265[astrocyte activation involved in immune response] GO:0002282[microglial cell activation involved in immune response] GO:0003723[RNA binding] GO:0005125[cytokine activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005768[endosome] GO:0005770[late endosome] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005802[trans-Golgi network] GO:0005886[plasma membrane] GO:0007040[lysosome organization] GO:0007041[lysosomal transport] GO:0007042[lysosomal lumen acidification] GO:0007165[signal transduction] GO:0008083[growth factor activity] GO:0010595[positive regulation of endothelial cell migration] GO:0016020[membrane] GO:0030335[positive regulation of cell migration] GO:0035578[azurophil granule lumen] GO:0043524[negative regulation of neuron apoptotic process] GO:0043525[positive regulation of neuron apoptotic process] GO:0045766[positive regulation of angiogenesis] GO:0048680[positive regulation of axon regeneration] GO:0050679[positive regulation of epithelial cell proliferation] GO:0050727[regulation of inflammatory response] GO:0050821[protein stabilization] GO:0051087[chaperone binding] GO:0060266[negative regulation of respiratory burst involved in inflammatory response] GO:0070062[extracellular exosome] GO:0106016[positive regulation of inflammatory response to wounding] GO:1900426[positive regulation of defense response to bacterium] GO:1902564[negative regulation of neutrophil activation] GO:1903334[positive regulation of protein folding] GO:1903979[negative regulation of microglial cell activation] GO:1905247[positive regulation of aspartic-type peptidase activity] GO:1905673[positive regulation of lysosome organization]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
