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    GLIPR2 GLI pathogenesis related 2 [ Homo sapiens (human) ]

    Gene ID: 152007, updated on 3-Nov-2024

    Summary

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    Official Symbol
    GLIPR2provided by HGNC
    Official Full Name
    GLI pathogenesis related 2provided by HGNC
    Primary source
    HGNC:HGNC:18007
    See related
    Ensembl:ENSG00000122694 MIM:607141; AllianceGenome:HGNC:18007
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GAPR1; GAPR-1; C9orf19; gliPR 2
    Summary
    Enables protein homodimerization activity. Involved in positive regulation of ERK1 and ERK2 cascade; positive regulation of epithelial cell migration; and positive regulation of epithelial to mesenchymal transition. Located in Golgi membrane. Biomarker of pancreatic ductal adenocarcinoma. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lung (RPKM 23.8), appendix (RPKM 20.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GLIPR2 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (36136536..36163913)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (36158540..36185919)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (36136533..36163910)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 2 subfamily AM member 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19886 Neighboring gene reversion inducing cysteine rich protein with kazal motifs Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36102296-36102796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:36161748-36162328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:36162329-36162909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36166491-36166991 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:36190553-36191178 Neighboring gene calicin Neighboring gene uncharacterized LOC124902151 Neighboring gene clathrin light chain A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Interaction of GAPR-1 with lipid bilayers is regulated by alternative homodimerization. van Galen J, et al. Biochim Biophys Acta, 2012 Sep. PMID 22560898
    2. Dynamic and Reversible Aggregation of the Human CAP Superfamily Member GAPR-1 in Protein Inclusions in Saccharomyces cerevisiae. Sirati N, et al. J Mol Biol, 2021 Sep 17. PMID 34298062
    3. The Golgi-Associated Plant Pathogenesis-Related Protein GAPR-1 Enhances Type I Interferon Signaling Pathway in Response to Toll-Like Receptor 4. Zhou Q, et al. Inflammation, 2016 Apr. PMID 26678074
    4. GAPR-1 Interferes with Condensate Formation of Beclin 1 in Saccharomyces cerevisiae. Sirati N, et al. J Mol Biol, 2023 Feb 28. PMID 36586462
    5. Cloning and characterization of a human novel gene C9orf19 encoding a conserved putative protein with an SCP-like extracellular protein domain. Eisenberg I, et al. Gene, 2002 Jun 26. PMID 12137952

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GAPR-1 Interferes with Condensate Formation of Beclin 1 in Saccharomyces cerevisiae.
      Title: GAPR-1 Interferes with Condensate Formation of Beclin 1 in Saccharomyces cerevisiae.
    2. GLIPR2 is a negative regulator of autophagy and the BECN1-ATG14-containing phosphatidylinositol 3-kinase complex.
      Title: GLIPR2 is a negative regulator of autophagy and the BECN1-ATG14-containing phosphatidylinositol 3-kinase complex.
    3. Dynamic and Reversible Aggregation of the Human CAP Superfamily Member GAPR-1 in Protein Inclusions in Saccharomyces cerevisiae.
      Title: Dynamic and Reversible Aggregation of the Human CAP Superfamily Member GAPR-1 in Protein Inclusions in Saccharomyces cerevisiae.
    4. Here, sequence analyses, structural modeling, mutagenesis combined with pull-down assays, X-ray crystal structure determination and small-angle X-ray scattering were used to investigate the Beclin 1-GAPR-1 interaction. changes in the structure of the equatorial groove combined with the improved dimerization of pentad mutant GAPR-1 are likely to abrogate binding to Beclin 1.
      Title: Structural insights into the interaction of the conserved mammalian proteins GAPR-1 and Beclin 1, a key autophagy protein.
    5. This study identified a previously unrecognized role for GAPR-1 to control a unifying TLR4 signaling complex and to regulate type I Interferon signaling activation.
      Title: The Golgi-Associated Plant Pathogenesis-Related Protein GAPR-1 Enhances Type I Interferon Signaling Pathway in Response to Toll-Like Receptor 4.
    6. Hypoxia promotes epithelial-mesenchymal transition of hepatocellular carcinoma cells via inducing GLIPR-2 expression.
      Title: Hypoxia promotes epithelial--mesenchymal transition of hepatocellular carcinoma cells via inducing GLIPR-2 expression.
    7. GLIPR-2 overexpression in HK-2 cells can potentiate EMT-like processes in this cell type through the ERK1/2 signaling pathway
      Title: GLIPR-2 overexpression in HK-2 cells promotes cell EMT and migration through ERK1/2 activation.
    8. the charge properties of the lipid bilayer can regulate GAPR-1 dynamics as a potential mechanism to modulate GAPR-1 function
      Title: Interaction of GAPR-1 with lipid bilayers is regulated by alternative homodimerization.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of epithelial cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    Golgi-associated plant pathogenesis-related protein 1
    Names
    17kD fetal brain protein
    glioma pathogenesis-related protein 2
    golgi-associated PR-1 protein

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001287010.2 → NP_001273939.1  Golgi-associated plant pathogenesis-related protein 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AI458414, AK091288, BF515272
      Consensus CDS
      CCDS69595.1
      UniProtKB/TrEMBL
      Q5VZR0
      Related
      ENSP00000367195.1, ENST00000377959.5
      Conserved Domains (1) summary
      cd05382
      Location:8 → 113
      SCP_GAPR-1_like; SCP_GAPR-1_like: SCP-like extracellular protein domain, golgi-associated plant pathogenesis related protein (GAPR)-like sub-family. The wider family of SCP containing proteins includes plant pathogenesis-related protein 1 (PR-1), CRISPs, mammalian ...

    2. NM_001287011.2 → NP_001273940.1  Golgi-associated plant pathogenesis-related protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in its 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AI458414, AK091288, AK307243, BF515272
      Conserved Domains (1) summary
      cd05382
      Location:8 → 102
      SCP_GAPR-1_like; SCP_GAPR-1_like: SCP-like extracellular protein domain, golgi-associated plant pathogenesis related protein (GAPR)-like sub-family. The wider family of SCP containing proteins includes plant pathogenesis-related protein 1 (PR-1), CRISPs, mammalian ...

    3. NM_001287012.2 → NP_001273941.1  Golgi-associated plant pathogenesis-related protein 1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AI458414, AK091288, BF515272, DA432700
      Consensus CDS
      CCDS75832.1
      UniProtKB/TrEMBL
      A0A088AWP7
      Related
      ENSP00000379857.4, ENST00000396613.7
      Conserved Domains (1) summary
      cl00133
      Location:8 → 59
      SCP; SCP: SCP-like extracellular protein domain, found in eukaryotes and prokaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), which accumulates after infections with pathogens, and may act as an anti-fungal agent or be involved in ...

    4. NM_001287013.2 → NP_001273942.1  Golgi-associated plant pathogenesis-related protein 1 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon and it thus differs in its 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (e) has a distinct N-terminus and is longer than isoform a.
      Source sequence(s)
      AI458414, AK091288, AL158830, DA268281
      Conserved Domains (1) summary
      cd05382
      Location:23 → 154
      SCP_GAPR-1_like; SCP_GAPR-1_like: SCP-like extracellular protein domain, golgi-associated plant pathogenesis related protein (GAPR)-like sub-family. The wider family of SCP containing proteins includes plant pathogenesis-related protein 1 (PR-1), CRISPs, mammalian ...

    5. NM_001287014.2 → NP_001273943.1  Golgi-associated plant pathogenesis-related protein 1 isoform f

      See identical proteins and their annotated locations for NP_001273943.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' terminal exon and it thus differs in its 5' UTR and 5' coding region, and it lacks three internal coding exons, compared to variant 1. The encoded isoform (f) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AI458414, AK091288, AL158830, DA268281, N41831
      Consensus CDS
      CCDS75833.1
      UniProtKB/TrEMBL
      A0A087WUM5
      Related
      ENSP00000478768.1, ENST00000619700.1
      Conserved Domains (1) summary
      cl00133
      Location:20 → 57
      SCP; SCP: SCP-like extracellular protein domain, found in eukaryotes and prokaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), which accumulates after infections with pathogens, and may act as an anti-fungal agent or be involved in ...

    6. NM_022343.4 → NP_071738.1  Golgi-associated plant pathogenesis-related protein 1 isoform a

      See identical proteins and their annotated locations for NP_071738.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AI458414, AK075091, AK091288, BF515272
      Consensus CDS
      CCDS6598.1
      UniProtKB/Swiss-Prot
      Q5VZR1, Q8N2S6, Q8WWC9, Q8WX36, Q9H4G4
      Related
      ENSP00000367196.4, ENST00000377960.9
      Conserved Domains (1) summary
      cd05382
      Location:8 → 139
      SCP_GAPR-1_like; SCP_GAPR-1_like: SCP-like extracellular protein domain, golgi-associated plant pathogenesis related protein (GAPR)-like sub-family. The wider family of SCP containing proteins includes plant pathogenesis-related protein 1 (PR-1), CRISPs, mammalian ...

    RNA

    1. NR_104637.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) includes two additional exons in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI458414, AK091288, BF515272, CR749781

    2. NR_104638.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) contains an alternate 5' terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AI458414, AK091288, BF516600, DA271525

    3. NR_104639.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) includes an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI458414, AK091288, BF515272, DA986727

    4. NR_104640.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI458414, AK091288, BF515272, DA824243

    5. NR_104641.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AI458414, AK091288, BF515272, BF516600, BP261391

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      36136536..36163913
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447416.2 → XP_024303184.1  Golgi-associated plant pathogenesis-related protein 1 isoform X2

      Conserved Domains (1) summary
      cl00133
      Location:23 → 74
      SCP; SCP-like extracellular protein domain, found in eukaryotes and prokaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), which accumulates after infections with pathogens, and may act as an anti-fungal agent or be involved in cell ...

    2. XM_047422807.1 → XP_047278763.1  Golgi-associated plant pathogenesis-related protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      36158540..36185919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362022.1 → XP_054217997.1  Golgi-associated plant pathogenesis-related protein 1 isoform X2

    2. XM_054362021.1 → XP_054217996.1  Golgi-associated plant pathogenesis-related protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4G4.3 GenPept UniProtKB/Swiss-Prot:Q9H4G4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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