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    AFAP1 actin filament associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 60312, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AFAP1provided by HGNC
    Official Full Name
    actin filament associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:24017
    See related
    Ensembl:ENSG00000196526 MIM:608252; AllianceGenome:HGNC:24017
    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
    AFAP; AFAP110; AFAP-110
    Summary
    The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 8.4), placenta (RPKM 6.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AFAP1 in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (7758713..7939861, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (7730695..7918406, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (7760440..7941588, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sortilin related VPS10 domain containing receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7487849-7488719 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:7499341-7499508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7502509-7503107 Neighboring gene uncharacterized LOC124900655 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7511069-7511569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7513069-7513896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7516537-7517180 Neighboring gene uncharacterized LOC124900654 Neighboring gene microRNA 4274 Neighboring gene Sharpr-MPRA regulatory region 5388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7541780-7542286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7572135-7572688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7572689-7573243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7594819-7595716 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:7618209-7618398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7652905-7653495 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7654677-7655267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7657631-7658221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7658222-7658811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7675244-7675744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7678472-7679464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7698611-7699152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7699153-7699695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7703459-7704127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7706967-7707838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7710414-7710931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7710932-7711448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7712713-7713213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7715853-7716582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7735941-7736733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7747402-7747902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7754061-7754562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7754563-7755062 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:7755607-7755833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7758626-7759126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7764789-7765495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7764080-7764788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7769393-7770308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21277 Neighboring gene heart enhancer 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21279 Neighboring gene AFAP1 antisense RNA 1 Neighboring gene uncharacterized LOC124900656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7806013-7806582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7806583-7807151 Neighboring gene Sharpr-MPRA regulatory region 8435 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:7809617-7810117 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:7827707-7828208 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:7828209-7828708 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:7830049-7830549 Neighboring gene Sharpr-MPRA regulatory region 14367 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:7845474-7845654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15253 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7851945-7852446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7854640-7855140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7884073-7884574 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:7895735-7895928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7916363-7917329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7919591-7920401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7920402-7921211 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:7940549-7941053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7951399-7951898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7957833-7958334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7958335-7958834 Neighboring gene Sharpr-MPRA regulatory region 6491 Neighboring gene uncharacterized LOC124900657 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7973234-7973789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:7973790-7974346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15255 Neighboring gene uncharacterized LOC389199 Neighboring gene Sharpr-MPRA regulatory region 1176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7986340-7987294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7987295-7988247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:7994807-7995347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8000331-8000831 Neighboring gene actin binding LIM protein family member 2 Neighboring gene microRNA 95

    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. AFAP-110 is required for actin stress fiber formation and cell adhesion in MDA-MB-231 breast cancer cells. Dorfleutner A, et al. J Cell Physiol, 2007 Dec. PMID 17520695
    2. The CUL4B-based E3 ubiquitin ligase regulates mitosis and brain development by recruiting phospho-specific DCAFs. Stier A, et al. EMBO J, 2023 Sep 4. PMID 37365982, Free PMC Article
    3. Expression analysis of AFAP1-AS1 and AFAP1 in breast cancer. Dianatpour A, et al. Cancer Biomark, 2018. PMID 29439313
    4. The prognostic value of high LncRNA AFAP1-AS1 expression in various cancers: A systematic review and meta-analysis containing 21 studies. Zhou Y, et al. Clin Chim Acta, 2018 Jun. PMID 29544748
    5. Actin filament-associated protein 1 (AFAP-1) is a key mediator in inflammatory signaling-induced rapid attenuation of intrinsic P-gp function in human brain capillary endothelial cells. Hoshi Y, et al. J Neurochem, 2017 Apr. PMID 28112407

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long non-coding RNA AFAP1-AS1 promotes proliferation and migration of gastric cancer by downregulating KLF2.
      Title: Long non-coding RNA AFAP1-AS1 promotes proliferation and migration of gastric cancer by downregulating KLF2.
    2. [Knockdown of long non-coding RNA actin filament-associated protein 1 antisense RNA1 (AFAP1-AS1) inhibits epithelial-mesenchymal transition, invasion and migration of TPC-1 papillary thyroid cancer cells].
      Title: [Knockdown of long non-coding RNA actin filament-associated protein 1 antisense RNA1 (AFAP1-AS1) inhibits epithelial-mesenchymal transition, invasion and migration of TPC-1 papillary thyroid cancer cells].
    3. The expression of AFAP1-AS1 was high in the oral squamous cell carcinoma tissues and SCC25 cells and is associated with the development and prognosis of oral squamous cell carcinoma
      Title: [Expression and functions of long non-coding RNA actin filament-associated protein 1-antisense RNA1 in oral squamous cell carcinoma].
    4. e experiment in vitro suggested down-regulation of AFAP1-AS1 inhibited retinoblastoma cell proliferation, migration and invasion, and blocked cell cycle. In conclusion, AFAP1-AS1 functions as an oncogenic lncRNA in retinoblastoma.
      Title: LncRNA AFAP1-AS1 is a prognostic biomarker and serves as oncogenic role in retinoblastoma.
    5. Authors determined that AFAP1-AS1 functions as a competing endogenous RNA in NPC to regulate the Rho/Rac pathway through miR-423-5p.
      Title: Long noncoding RNA AFAP1-AS1 acts as a competing endogenous RNA of miR-423-5p to facilitate nasopharyngeal carcinoma metastasis through regulating the Rho/Rac pathway.
    6. The observed up-regulation of AFAP1-AS1 in tumor samples compared with ANCTs implies its involvement in breast cancer pathogenesis and potentiates it as a biomarker or therapeutic target.
      Title: Expression analysis of AFAP1-AS1 and AFAP1 in breast cancer.
    7. The high LncRNA AFAP1-AS1 expression was significantly related to advanced clinical stage, larger tumor size, earlier tumor metastasis, earlier lymph nodal involvement and vascular invasion. High LncRNA AFAP1-AS1 expression was an unfavorable prognostic factor in various cancers.
      Title: The prognostic value of high LncRNA AFAP1-AS1 expression in various cancers: A systematic review and meta-analysis containing 21 studies.
    8. AFAP-1 is a key mediator in the inflammatory signaling-induced, translocation-independent attenuation of P-glycoprotein efflux in brain capillary endothelial cells.
      Title: Actin filament-associated protein 1 (AFAP-1) is a key mediator in inflammatory signaling-induced rapid attenuation of intrinsic P-gp function in human brain capillary endothelial cells.
    9. The genotype frequencies of six SNPs in AFAP1, GMDS and PTGFR genes were conformed to Hardy-Weinberg equilibrium (HWE).
      Title: Correlations of AFAP1, GMDS and PTGFR gene polymorphisms with intra-ocular pressure response to latanoprost in patients with primary open-angle glaucoma.
    10. Data indicate three loci associated with primary open-angle glaucoma (POAG) were located upstream of ATP binding cassette transporter 1 (ABCA1), within actin filament associated protein 1 (AFAP1) and within GDP-mannose 46-dehydratase (GMDS).
      Title: Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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

    EBI GWAS Catalog

    Description
    Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ56849

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in focal adhesion HDA PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    actin filament-associated protein 1
    Names
    110 kDa actin filament-associated protein
    actin filament-associated protein, 110 kDa

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001134647.2 → NP_001128119.1  actin filament-associated protein 1 isoform A

      See identical proteins and their annotated locations for NP_001128119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) differs in the 5' UTR and includes an alternate in-frame exon in the coding region compared to variant 4. The variant encodes a longer protein, isoform A, compared to isoform B.
      Source sequence(s)
      AC004169, AC112254, AK127962, AK290807, AK297631, BI561136, CA448961, DB450895
      Consensus CDS
      CCDS47010.1
      UniProtKB/Swiss-Prot
      Q8N556
      UniProtKB/TrEMBL
      Q6ZRV0
      Related
      ENSP00000410689.1, ENST00000420658.6
      Conserved Domains (3) summary
      cd13306
      Location:143 → 249
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:347 → 447
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:155 → 247
      PH; PH domain

    2. NM_001371090.1 → NP_001358019.1  actin filament-associated protein 1 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 4. Variants 2, 3 and 4 encodes the same protein.
      Source sequence(s)
      AC004169, AC112254, AC141931, AC144451
      Consensus CDS
      CCDS3397.1
      UniProtKB/Swiss-Prot
      A8K442, B4DMU2, E9PDT7, Q59EY5, Q8N556, Q9HBY1
      Related
      ENSP00000353402.4, ENST00000360265.9
      Conserved Domains (3) summary
      PRK02224
      Location:561 → 646
      PRK02224; DNA double-strand break repair Rad50 ATPase
      cd13306
      Location:143 → 249
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:347 → 447
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

    3. NM_001371091.1 → NP_001358020.1  actin filament-associated protein 1 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript. Variants 2, 3 and 4 encodes the same protein.
      Source sequence(s)
      AC004169, AC097381, AC112254, AC141931, AC144451
      Consensus CDS
      CCDS3397.1
      UniProtKB/Swiss-Prot
      A8K442, B4DMU2, E9PDT7, Q59EY5, Q8N556, Q9HBY1
      Conserved Domains (3) summary
      PRK02224
      Location:561 → 646
      PRK02224; DNA double-strand break repair Rad50 ATPase
      cd13306
      Location:143 → 249
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:347 → 447
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

    4. NM_198595.3 → NP_940997.1  actin filament-associated protein 1 isoform B

      See identical proteins and their annotated locations for NP_940997.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 4. Variants 2, 3 and 4 encodes the same protein.
      Source sequence(s)
      AC004169, AF188700, BC032777, CA448961, DA605903, DB450895
      Consensus CDS
      CCDS3397.1
      UniProtKB/Swiss-Prot
      A8K442, B4DMU2, E9PDT7, Q59EY5, Q8N556, Q9HBY1
      Related
      ENSP00000351245.2, ENST00000358461.6
      Conserved Domains (3) summary
      PRK02224
      Location:561 → 646
      PRK02224; DNA double-strand break repair Rad50 ATPase
      cd13306
      Location:143 → 249
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:347 → 447
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      7758713..7939861 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713909.4 → XP_006713972.1  actin filament-associated protein 1 isoform X3

      Conserved Domains (3) summary
      cd13306
      Location:164 → 270
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:368 → 468
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:176 → 268
      PH; PH domain

    2. XM_047416061.1 → XP_047272017.1  actin filament-associated protein 1 isoform X4

    3. XM_011513544.4 → XP_011511846.1  actin filament-associated protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011511846.1

      UniProtKB/Swiss-Prot
      Q8N556
      Related
      ENSP00000371983.3, ENST00000382543.4
      Conserved Domains (3) summary
      cd13306
      Location:143 → 249
      PH1_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 1
      cd13307
      Location:347 → 447
      PH2_AFAP; Actin filament associated protein family Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:155 → 247
      PH; PH domain

    4. XM_017008535.2 → XP_016864024.1  actin filament-associated protein 1 isoform X2

    5. XM_017008536.1 → XP_016864025.1  actin filament-associated protein 1 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      7730695..7918406 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350691.1 → XP_054206666.1  actin filament-associated protein 1 isoform X3

    2. XM_054350692.1 → XP_054206667.1  actin filament-associated protein 1 isoform X4

    3. XM_054350689.1 → XP_054206664.1  actin filament-associated protein 1 isoform X1

    4. XM_054350690.1 → XP_054206665.1  actin filament-associated protein 1 isoform X2

    5. XM_054350693.1 → XP_054206668.1  actin filament-associated protein 1 isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_021638.4: Suppressed sequence

      Description
      NM_021638.4: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N556.2 GenPept UniProtKB/Swiss-Prot:Q8N556

    Gene LinkOut

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

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