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    GRN granulin precursor [ Homo sapiens (human) ]

    Gene ID: 2896, updated on 27-Nov-2024

    Summary

    Official Symbol
    GRNprovided by HGNC
    Official Full Name
    granulin precursorprovided by HGNC
    Primary source
    HGNC:HGNC:4601
    See related
    Ensembl:ENSG00000030582 MIM:138945; AllianceGenome:HGNC:4601
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GEP; FTD2; GP88; PEPI; PGRN; CLN11; PCDGF
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 141.7), lung (RPKM 139.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GRN in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44345302..44353106)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45199297..45207105)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42422670..42430474)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 39 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12255 Neighboring gene uncharacterized LOC124904009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42403114-42403965 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42420716-42421641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12260 Neighboring gene Sharpr-MPRA regulatory region 15390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8591 Neighboring gene family with sequence similarity 171 member A2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42438205-42438805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42438806-42439405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8592 Neighboring gene RPL7L1 pseudogene 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common variants at 6q22 and 17q21 are associated with intracranial volume.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Granulin forms stable complexes with cyclin T1 and HIV-1 Tat and inhibits Tat transactivation of the viral LTR promoter PubMed
    tat The cysteine rich region of HIV-1 Tat (amino acids 21-37) mediates the binding of Tat to granulin amino acids 206-337 (granulin regions B+A) suggesting a role for granulin growth factors as biologically important extracellular Tat co-factors PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables cytokine activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables growth factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-folding chaperone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in astrocyte activation involved in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lysosomal lumen acidification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lysosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lysosomal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lysosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in microglial cell activation involved in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of microglial cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neuron apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neutrophil activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of respiratory burst involved in inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of aspartic-type peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of aspartic-type peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of axon regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of defense response to bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of endothelial cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of inflammatory response to wounding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of lysosome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein folding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in trans-Golgi network ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    progranulin
    Names
    PC cell-derived growth factor
    acrogranin
    epithelin
    glycoprotein 88
    glycoprotein of 88 Kda
    granulin-epithelin
    granulins
    proepithelin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007886.1 RefSeqGene

      Range
      4964..12984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_661

    mRNA and Protein(s)

    1. NM_002087.4NP_002078.1  progranulin precursor

      See identical proteins and their annotated locations for NP_002078.1

      Status: REVIEWED

      Source sequence(s)
      AC003043
      Consensus CDS
      CCDS11483.1
      UniProtKB/Swiss-Prot
      D3DX55, P23781, P23782, P23783, P23784, P28799, Q53HQ8, Q53Y88, Q540U8, Q9BWE7, Q9H8S1, Q9UCH0
      UniProtKB/TrEMBL
      B4DJI2
      Related
      ENSP00000053867.2, ENST00000053867.8
      Conserved Domains (3) summary
      smart00277
      Location:285335
      GRAN; Granulin
      pfam00396
      Location:377415
      Granulin
      cl02546
      Location:62112
      Granulin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      44345302..44353106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      45199297..45207105
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001012479.1: Suppressed sequence

      Description
      NM_001012479.1: This RefSeq was permanently suppressed because there is insufficient support for the transcript and the protein.