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    ARHGEF1 Rho guanine nucleotide exchange factor 1 [ Homo sapiens (human) ]

    Gene ID: 9138, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ARHGEF1provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 1provided by HGNC
    Primary source
    HGNC:HGNC:681
    See related
    Ensembl:ENSG00000076928 MIM:601855; AllianceGenome:HGNC:681
    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
    LSC; GEF1; IMD62; LBCL2; SUB1.5; P115-RHOGEF
    Summary
    Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in spleen (RPKM 68.4), lymph node (RPKM 64.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGEF1 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41883184..41930141)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44702671..44749424)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42387251..42434293)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42373545-42374103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14685 Neighboring gene ribosomal protein S19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10674 Neighboring gene microRNA 6797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10675 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42388310-42388459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14690 Neighboring gene CD79a molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42398525-42399025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42399985-42400527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42402155-42402655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42407915-42408520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42408521-42409125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42409731-42410335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42424596-42425277 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42426221-42426848 Neighboring gene ETS repressor factor like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42432998-42433498 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:42435363-42435894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42439007-42439506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14695 Neighboring gene Rab acceptor 1 Neighboring gene ATPase Na+/K+ transporting subunit alpha 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10681

    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 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. A novel role for p115RhoGEF in regulation of epithelial plasticity. Kher SS, et al. PLoS One, 2014. PMID 24465552, Free PMC Article
    2. Mapping the Galpha13 binding interface of the rgRGS domain of p115RhoGEF. Chen Z, et al. J Biol Chem, 2003 Mar 14. PMID 12525488
    3. Characterization of G alpha 13-dependent plasma membrane recruitment of p115RhoGEF. Bhattacharyya R, et al. Biochem J, 2003 May 1. PMID 12534370, Free PMC Article
    4. P115 RhoGEF and microtubules decide the direction apoptotic cells extrude from an epithelium. Slattum G, et al. J Cell Biol, 2009 Sep 7. PMID 19720875, Free PMC Article
    5. [The exchange factor Arhgef1: a new target in hypertension]. Loirand G, et al. Med Sci (Paris), 2010 Jun-Jul. PMID 20619149

    See all (107) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Integrative multiomics and in silico analysis revealed the role of ARHGEF1 and its screened antagonist in mild and severe COVID-19 patients.
      Title: Integrative multiomics and in silico analysis revealed the role of ARHGEF1 and its screened antagonist in mild and severe COVID-19 patients.
    2. Identification of Rho GEF and RhoA Activation by Pull-Down Assays.
      Title: Identification of Rho GEF and RhoA Activation by Pull-Down Assays.
    3. High ARHGEF1 expression is associated with asthmatic airway hyper-responsiveness.
      Title: Transforming growth factor-β enhances Rho-kinase activity and contraction in airway smooth muscle via the nucleotide exchange factor ARHGEF1.
    4. Data suggest that MCP1/CCL2 induces activation/tyrosine phosphorylation of ARHGEF1/p115-RhoGEF and up-regulates RAC1 signaling in vascular smooth muscle cells (VSMCs); ARHGEF1 inhibition suppresses MCP1-induced VSMC migration and proliferation. (ARHGEF1 = Rho guanine nucleotide exchange factor 1; RAC1 = Rac family small GTPase 1; CCL2 = C-C motif chemokine ligand 2)
      Title: p115 RhoGEF activates the Rac1 GTPase signaling cascade in MCP1 chemokine-induced vascular smooth muscle cell migration and proliferation.
    5. Data indicate that the crystal structure of PDZ-RhoGEF PDZ domain in complex with the CXC chemokine receptor 2 (CXCR2) C-terminal PDZ binding motif.
      Title: Structural basis of PDZ-mediated chemokine receptor CXCR2 scaffolding by guanine nucleotide exchange factor PDZ-RhoGEF.
    6. We have reported here for the first time a reduced activity of both Rac1 and Cdc42 in human pheochromocytoma resection as well as tumor-associated expression changes of FARP1, ARHGEF1, and ARHGAP36
      Title: Cdc42 and Rac1 activity is reduced in human pheochromocytoma and correlates with FARP1 and ARHGEF1 expression.
    7. contactin-1 displayed the ability to phosphorylate the RhoA activator p115 RhoGEF
      Title: [Under hypoxia condition contactin-1 regulates migration of MKN45 cells through RhoA pathway].
    8. The novel role for p115RhoGEF in regulation of epithelial plasticity is dependent on Rho-DRF signaling module.
      Title: A novel role for p115RhoGEF in regulation of epithelial plasticity.
    9. Regulated localization is sufficient for hormonal control of regulator of G protein signaling homology Rho guanine nucleotide exchange factors (RH-RhoGEFs).
      Title: Regulated localization is sufficient for hormonal control of regulator of G protein signaling homology Rho guanine nucleotide exchange factors (RH-RhoGEFs).
    10. Modification of p115RhoGEF at Serine(330) regulates its RhoGEF activity.
      Title: Modification of p115RhoGEF Ser(330) regulates its RhoGEF activity.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    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

    Associated conditions

    Description Tests
    Immunodeficiency 62
    MedGen: C5193109 OMIM: 618459 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env The interaction of the long cytoplasmic tail of HIV-1 gp41 with the carboxy-terminal regulatory domain of p115-RhoGEF inhibits p115-mediated actin stress fiber formation and activation of serum response factor (SRF) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    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 G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Rho protein signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    rho guanine nucleotide exchange factor 1
    Names
    115 kDa guanine nucleotide exchange factor
    115-kD protein
    Lsc homolog
    Rho guanine nucleotide exchange factor (GEF) 1
    p115RhoGEF

    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_001396000.1 → NP_001382929.1  rho guanine nucleotide exchange factor 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC243967
      Consensus CDS
      CCDS92626.1
      UniProtKB/TrEMBL
      A0A9L9PYI1, M0QZR4
      Related
      ENSP00000470715.1, ENST00000599846.6
      Conserved Domains (4) summary
      PHA03381
      Location:289 → 431
      PHA03381; tegument protein VP22; Provisional
      cd08755
      Location:52 → 244
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:476 → 660
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:694 → 818
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    2. NM_001396002.1 → NP_001382931.1  rho guanine nucleotide exchange factor 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC010616, AC243967
      UniProtKB/TrEMBL
      A0A8V8TP90
      Conserved Domains (4) summary
      smart00325
      Location:387 → 571
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      PHA03169
      Location:218 → 382
      PHA03169; hypothetical protein; Provisional
      cd14679
      Location:605 → 729
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
      cl02565
      Location:52 → 211
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    3. NM_001396003.1 → NP_001382932.1  rho guanine nucleotide exchange factor 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC010616, AC243967
      UniProtKB/TrEMBL
      A0A8V8TP90
      Related
      ENSP00000514042.1, ENST00000698932.1
      Conserved Domains (4) summary
      cd08755
      Location:52 → 244
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:420 → 604
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      PHA03169
      Location:251 → 415
      PHA03169; hypothetical protein; Provisional
      cd14679
      Location:638 → 762
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    4. NM_001396004.1 → NP_001382933.1  rho guanine nucleotide exchange factor 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC243967
      UniProtKB/TrEMBL
      A0A2X0SFA4
      Related
      ENSP00000367394.3, ENST00000378152.8
      Conserved Domains (4) summary
      smart00325
      Location:387 → 571
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      PHA03169
      Location:218 → 382
      PHA03169; hypothetical protein; Provisional
      cd14679
      Location:605 → 729
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
      cl02565
      Location:52 → 211
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    5. NM_001396006.1 → NP_001382935.1  rho guanine nucleotide exchange factor 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC243967
      UniProtKB/TrEMBL
      A0A8V8TP90
      Conserved Domains (4) summary
      cd08755
      Location:52 → 244
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:420 → 604
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      PHA03169
      Location:251 → 415
      PHA03169; hypothetical protein; Provisional
      cd14679
      Location:638 → 762
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    6. NM_004706.4 → NP_004697.2  rho guanine nucleotide exchange factor 1 isoform 2

      See identical proteins and their annotated locations for NP_004697.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream start codon, as compared to variant 1. The encoded isoform 2 thus has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC243967, BC005155, BC011726, BM147791
      Consensus CDS
      CCDS12591.1
      UniProtKB/Swiss-Prot
      O00513, Q6NX52, Q8N4J4, Q92888, Q96BF4, Q96F17, Q9BSB1
      UniProtKB/TrEMBL
      A0A2X0SFA4
      Related
      ENSP00000346532.3, ENST00000354532.8
      Conserved Domains (4) summary
      pfam05887
      Location:315 → 410
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      cd08755
      Location:52 → 244
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:420 → 604
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:638 → 762
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    7. NM_198977.2 → NP_945328.1  rho guanine nucleotide exchange factor 1 isoform 3

      See identical proteins and their annotated locations for NP_945328.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon and lacks an in-frame internal exon, as compared to variant 1. The encoded isoform 3 thus has a shorter N-terminus and lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC243967, BC011726, BM147791
      Consensus CDS
      CCDS12592.1
      UniProtKB/TrEMBL
      A0A2X0SFA4
      Related
      ENSP00000344429.3, ENST00000347545.8
      Conserved Domains (4) summary
      pfam05887
      Location:282 → 377
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      smart00325
      Location:387 → 571
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:605 → 729
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
      cl02565
      Location:52 → 211
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    8. NM_199002.2 → NP_945353.1  rho guanine nucleotide exchange factor 1 isoform 1

      See identical proteins and their annotated locations for NP_945353.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC011726, BC034013, BQ944132
      Consensus CDS
      CCDS12590.1
      UniProtKB/TrEMBL
      A0A2X0SFA4
      Related
      ENSP00000337261.3, ENST00000337665.8
      Conserved Domains (4) summary
      pfam05887
      Location:330 → 425
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      cd08755
      Location:67 → 259
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:435 → 619
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:653 → 777
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    RNA

    1. NR_135626.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010616

    2. NR_173092.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010616, AC243967

    3. NR_173093.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC243967
      Related
      ENST00000698933.1

    4. NR_173095.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010616

    5. NR_173096.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010616

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      41883184..41930141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439662.1 → XP_047295618.1  rho guanine nucleotide exchange factor 1 isoform X1

    2. XM_047439664.1 → XP_047295620.1  rho guanine nucleotide exchange factor 1 isoform X3

    3. XM_047439665.1 → XP_047295621.1  rho guanine nucleotide exchange factor 1 isoform X4

    4. XM_047439663.1 → XP_047295619.1  rho guanine nucleotide exchange factor 1 isoform X2

    5. XM_047439666.1 → XP_047295622.1  rho guanine nucleotide exchange factor 1 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      44702671..44749424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322576.1 → XP_054178551.1  rho guanine nucleotide exchange factor 1 isoform X1

    2. XM_054322578.1 → XP_054178553.1  rho guanine nucleotide exchange factor 1 isoform X3

    3. XM_054322579.1 → XP_054178554.1  rho guanine nucleotide exchange factor 1 isoform X4

    4. XM_054322577.1 → XP_054178552.1  rho guanine nucleotide exchange factor 1 isoform X2

    5. XM_054322580.1 → XP_054178555.1  rho guanine nucleotide exchange factor 1 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92888.2 GenPept UniProtKB/Swiss-Prot:Q92888

    Gene LinkOut

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

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