Human Gene GRN (ENST00000639447.1) Description and Page Index

Description: Granulins have possible cytokine-like activity. They may play a role in inflammation, wound repair, and tissue remodeling. (from UniProt P28799)
Gencode Transcript: ENST00000639447.1
Gencode Gene: ENSG00000030582.18
Transcript (Including UTRs)
Position: hg38 chr17:44,349,165-44,352,795 Size: 3,631 Total Exon Count: 11 Strand: +
Coding Region
Position: hg38 chr17:44,349,165-44,352,795 Size: 3,631 Coding Exon Count: 11

Page Index

Sequence and Links

UniProtKB Comments

Protein Structure

Other Names

Methods

Data last updated at UCSC: 2021-06-20 19:51:40

Comments and Description Text from UniProtKB


	ID: GRN_HUMAN DESCRIPTION: RecName: Full=Granulins; AltName: Full=Proepithelin; Short=PEPI; Contains: RecName: Full=Acrogranin; Contains: RecName: Full=Paragranulin; Contains: RecName: Full=Granulin-1; AltName: Full=Granulin G; Contains: RecName: Full=Granulin-2; AltName: Full=Granulin F; Contains: RecName: Full=Granulin-3; AltName: Full=Granulin B; Contains: RecName: Full=Granulin-4; AltName: Full=Granulin A; Contains: RecName: Full=Granulin-5; AltName: Full=Granulin C; Contains: RecName: Full=Granulin-6; AltName: Full=Granulin D; Contains: RecName: Full=Granulin-7; AltName: Full=Granulin E; Flags: Precursor; FUNCTION: Granulins have possible cytokine-like activity. They may play a role in inflammation, wound repair, and tissue remodeling. FUNCTION: Granulin-4 promotes proliferation of the epithelial cell line A431 in culture while granulin-3 acts as an antagonist to granulin-4, inhibiting the growth. INTERACTION: O00555:CACNA1A; NbExp=2; IntAct=EBI-747754, EBI-766279; SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: In myelogenous leukemic cell lines of promonocytic, promyelocytic, and proerythroid lineage, in fibroblasts, and very strongly in epithelial cell lines. Present in inflammatory cells and bone marrow. Highest levels in kidney. PTM: Granulins are disulfide bridged. DISEASE: Defects in GRN are the cause of ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]; also known as tau- negative frontotemporal dementia linked to chromosome 17. Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease. DISEASE: Defects in GRN are the cause of neuronal ceroid lipofuscinosis type 11 (CLN11) [MIM:614706]. A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. SIMILARITY: Belongs to the granulin family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GRNID40757ch17q21.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GRN";

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR006150 - Cys_repeat_1
IPR000118 - Granulin

Pfam Domains:
PF00396 - Granulin

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1G26 - NMR	2JYE - NMR	2JYT - NMR
To conserve bandwidth, only the images from the first 3 structures are shown.
2JYU - NMR	2JYV - NMR

ModBase Predicted Comparative 3D Structure on P28799


Front	Top	Side

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