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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 | TAS | -- |
GO:0005615 | extracellular space | IDA | 20479936 |
GO:0005764 | lysosome | IDA,IEA | 26370502 |
GO:0005765 | lysosomal membrane | IDA | 21092856 |
GO:0005768 | endosome | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
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|
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | GRN 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Grn 32 |
|
||
mouse (Mus musculus) |
Mammalia | Grn 17 33 32 |
|
||
dog (Canis familiaris) |
Mammalia | GRN 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | GRN 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | GRN 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | GRN 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | grn 32 |
|
||
Str.4560 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | grn-prov 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | grna 33 32 |
|
OneToMany | |
grnb 33 |
|
OneToMany | |||
wufj14b08 32 |
|
||||
worm (Caenorhabditis elegans) |
Secernentea | T22H2.6b 34 |
|
|
|
T22H2.6a 34 |
|
|
|||
pgrn-1 33 |
|
OneToOne | |||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7332 33 |
|
OneToOne |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1022228740 | uncertain-significance, Seizures | 44,349,525(+) | A/T | coding_sequence_variant, missense_variant | |
rs111435385 | benign, Frontotemporal dementia, ubiquitin-positive, Seizures | 44,349,206(+) | G/A | coding_sequence_variant, synonymous_variant | |
rs114248177 | benign, likely-benign, not specified, Seizures, - | 44,352,133(+) | G/A | coding_sequence_variant, missense_variant | |
rs116547342 | likely-benign, Frontotemporal dementia | 44,353,078(+) | G/A | 3_prime_UTR_variant | |
rs1239690384 | uncertain-significance, Ceroid lipofuscinosis, neuronal, 11, Frontotemporal dementia, ubiquitin-positive | 44,349,426(+) | G/A | coding_sequence_variant, 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 |
|