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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]
GRN (Granulin Precursor) is a Protein Coding gene. Diseases associated with GRN include Ceroid Lipofuscinosis, Neuronal, 11 and Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related. Among its related pathways are Innate Immune System and Integrated Breast Cancer Pathway. Gene Ontology (GO) annotations related to this gene include growth factor activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005125 | cytokine activity | IEA | -- |
GO:0005515 | protein binding | IPI | 12526812 |
GO:0008083 | growth factor activity | TAS | 1542665 |
GO:0051087 | chaperone binding | IDA | 27789271 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IBA,TAS | -- |
GO:0005615 | extracellular space | IDA | 20479936 |
GO:0005623 | cell | IEA | -- |
GO:0005764 | lysosome | IEA,IDA | 26370502 |
GO:0005765 | lysosomal membrane | IDA | 21092856 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
|
|
2 | Integrated Breast Cancer Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002265 | astrocyte activation involved in immune response | ISS | -- |
GO:0002282 | microglial cell activation involved in immune response | ISS | -- |
GO:0007040 | lysosome organization | ISS | -- |
GO:0007041 | lysosomal transport | ISS | -- |
GO:0007042 | lysosomal lumen acidification | IMP | 28073925 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | - | - | - | - | |||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: | |||||||||||||||||
SP6: | - | - | |||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: | |||||||||||||||||
SP11: | |||||||||||||||||
SP12: | |||||||||||||||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GRN 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GRN 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Grn 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Grn 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GRN 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GRN 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GRN 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GRN 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | grn 30 |
|
||
Str.4560 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | grn-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | grna 30 31 |
|
OneToMany | |
grnb 31 |
|
OneToMany | |||
wufj14b08 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | T22H2.6b 32 |
|
|
|
T22H2.6a 32 |
|
|
|||
pgrn-1 31 |
|
OneToOne | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7332 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641757 | Uncertain Significance: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 | 44,352,685(+) | C/T | MISSENSE_VARIANT | |
643134 | Uncertain Significance: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 | 44,351,360(+) | C/T | ||
645598 | Uncertain Significance: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 | 44,350,320(+) | G/A | MISSENSE_VARIANT | |
645886 | Uncertain Significance: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 | 44,349,537(+) | T/C | MISSENSE_VARIANT | |
651116 | Uncertain Significance: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 | 44,349,516(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5606n54 | CNV | loss | 21841781 |
dgv5607n54 | CNV | loss | 21841781 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv475965 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ceroid lipofuscinosis, neuronal, 11 |
|
|
frontotemporal lobar degeneration with tdp43 inclusions, grn-related |
|
|
frontotemporal dementia |
|
|
progressive non-fluent aphasia |
|
|
aphasia |
|