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    AKAP7 A-kinase anchoring protein 7 [ Homo sapiens (human) ]

    Gene ID: 9465, updated on 27-Nov-2024

    Summary

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    Official Symbol
    AKAP7provided by HGNC
    Official Full Name
    A-kinase anchoring protein 7provided by HGNC
    Primary source
    HGNC:HGNC:377
    See related
    Ensembl:ENSG00000118507 MIM:604693; AllianceGenome:HGNC:377
    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
    AKAP15; AKAP18
    Summary
    This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]
    Expression
    Broad expression in adrenal (RPKM 12.1), duodenum (RPKM 4.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AKAP7 in Genome Data Viewer
    Location:
    6q23.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (131125627..131283532)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132320223..132477983)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131456607..131604672)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25062 Neighboring gene Sharpr-MPRA regulatory region 2744 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89712 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89717 Neighboring gene erythrocyte membrane protein band 4.1 like 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17541 Neighboring gene Sharpr-MPRA regulatory region 6396 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:131314249-131315096 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17543 Neighboring gene uncharacterized LOC105378004 Neighboring gene uncharacterized LOC102723445 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89797 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:131456238-131456738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25063 Neighboring gene NANOG hESC enhancer GRCh37_chr6:131460844-131461345 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:131463068-131463791 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:131464515-131465238 Neighboring gene MPRA-validated peak6126 silencer Neighboring gene double PHD fingers 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25065 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:131547081-131547840 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89836 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:131602472-131602980 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:131602981-131603489 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:131613147-131613647 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131616173-131616853 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131621535-131622042 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131622043-131622551 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:131644204-131644992 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131649720-131650506 Neighboring gene NANOG hESC enhancer GRCh37_chr6:131657722-131658239 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131659077-131660032 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131660033-131660988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:131661945-131662898 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:131664207-131664894 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131664895-131665583 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131665584-131666271 Neighboring gene uncharacterized LOC105378005 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:131677980-131679179 Neighboring gene ribosomal protein L21 pseudogene 67

    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. Peripheral blood AKAP7 expression as an early marker for lymphocyte-mediated post-stroke blood brain barrier disruption. O'Connell GC, et al. Sci Rep, 2017 Apr 26. PMID 28446746, Free PMC Article
    2. Malonate in the nucleotide-binding site traps human AKAP18γ/δ in a novel conformational state. Bjerregaard-Andersen K, et al. Acta Crystallogr F Struct Biol Commun, 2016 Aug. PMID 27487922, Free PMC Article
    3. Scaffold state switching amplifies, accelerates, and insulates protein kinase C signaling. Greenwald EC, et al. J Biol Chem, 2014 Jan 24. PMID 24302730, Free PMC Article
    4. Alternative splicing regulates the subcellular localization of A-kinase anchoring protein 18 isoforms. Trotter KW, et al. J Cell Biol, 1999 Dec 27. PMID 10613906, Free PMC Article
    5. The A-kinase anchoring protein 15 regulates feedback inhibition of the epithelial Na+ channel. Bengrine A, et al. FASEB J, 2007 Apr. PMID 17244820

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AKAP7 expression levels may have clinical utility as a prognostic biomarker for post-stroke blood brain complications
      Title: Peripheral blood AKAP7 expression as an early marker for lymphocyte-mediated post-stroke blood brain barrier disruption.
    2. Malonate in the nucleotide-binding site traps human AKAP18-gamma in a novel conformational state.
      Title: Malonate in the nucleotide-binding site traps human AKAP18γ/δ in a novel conformational state.
    3. PKC tethered to AKAP7alpha was less susceptible to inhibition from the ATP-competitive inhibitor Go6976 and the substrate-competitive inhibitor PKC 20-28, but not the activation-competitive inhibitor calphostin C.
      Title: Scaffold state switching amplifies, accelerates, and insulates protein kinase C signaling.
    4. Data from studies using recombinant proteins suggest that both AKAP7-gamma and AKAP7-alpha exhibit high-affinity interactions with isoenzymes of PKC (protein kinase C); AKAP7 could dictate PKC localization/function.
      Title: Spatiotemporal regulation of PKC via interactions with AKAP7 isoforms.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. AKAP18 contains a phosphodiesterase domain that binds AMP.
      Title: AKAP18 contains a phosphoesterase domain that binds AMP.
    7. AKAP7gamma is the first nuclear AKAP to bind RI and may be responsible for positioning PKA via RI and/or RII to regulate PKA-mediated gene transcription in both somatic cells and oocytes
      Title: AKAP7gamma is a nuclear RI-binding AKAP.
    8. AKAP15 regulates ENaC via a novel PKA-independent pathway
      Title: The A-kinase anchoring protein 15 regulates feedback inhibition of the epithelial Na+ channel.
    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

    EBI GWAS Catalog

    Description
    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
    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)

    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 nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase A binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein kinase A binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase A binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein kinase A regulatory subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in action potential IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in cellular response to cAMP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of delayed rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in regulation of membrane repolarization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of protein kinase A signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in hippocampal mossy fiber to CA3 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    A-kinase anchoring protein 7
    Names
    A kinase (PRKA) anchor protein 7
    A-kinase anchor protein 18 kDa
    A-kinase anchor protein 9 kDa
    AKAP 18

    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.

    Genomic

    1. NG_029123.2 RefSeqGene

      Range
      14842..162907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001376570.1 → NP_001363499.1  A-kinase anchoring protein 7 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL136110, AL137063, AL137222
      Consensus CDS
      CCDS94001.1
      UniProtKB/TrEMBL
      A0A804HI88, F5GXD1
      Related
      ENSP00000506952.1, ENST00000683794.1
      Conserved Domains (1) summary
      pfam10469
      Location:85 → 283
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    2. NM_001387860.1 → NP_001374789.1  A-kinase anchoring protein 7 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL136110, AL137063, AL137222
      Conserved Domains (2) summary
      pfam10470
      Location:246 → 302
      AKAP7_RIRII_bdg; PKA-RI-RII subunit binding domain of A-kinase anchor protein
      pfam10469
      Location:41 → 239
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    3. NM_001387861.1 → NP_001374790.1  A-kinase anchoring protein 7 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL136110, AL137063, AL137222
      UniProtKB/TrEMBL
      F5GXD1
      Conserved Domains (1) summary
      pfam10469
      Location:85 → 283
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    4. NM_001387862.1 → NP_001374791.1  A-kinase anchoring protein 7 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL136110, AL137222
      UniProtKB/TrEMBL
      F5GXD1
      Conserved Domains (1) summary
      pfam10469
      Location:85 → 283
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    5. NM_001387863.1 → NP_001374792.1  A-kinase anchoring protein 7 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL136110, AL137063, AL137222
      UniProtKB/TrEMBL
      F5GXD1
      Conserved Domains (1) summary
      pfam10469
      Location:63 → 261
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    6. NM_001387864.1 → NP_001374793.1  A-kinase anchoring protein 7 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL136110, AL137063
      UniProtKB/TrEMBL
      A0A9L9PYJ6
      Related
      ENSP00000516708.1, ENST00000706999.1

    7. NM_004842.4 → NP_004833.1  A-kinase anchoring protein 7 isoform alpha

      See identical proteins and their annotated locations for NP_004833.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha) encodes isoform alpha.
      Source sequence(s)
      BC063499, BC118601
      Consensus CDS
      CCDS5143.1
      UniProtKB/TrEMBL
      Q2TAJ5, Q6P4D3
      Related
      ENSP00000345149.4, ENST00000342266.4
      Conserved Domains (1) summary
      pfam10470
      Location:23 → 79
      AKAP7_RIRII_bdg; PKA-RI-RII subunit binding domain of A-kinase anchor protein

    8. NM_016377.4 → NP_057461.2  A-kinase anchoring protein 7 isoform gamma

      See identical proteins and their annotated locations for NP_057461.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma) differs in he 5' UTR and has multiple difference in the coding region, compared to variant alpha. The encoded isoform (gamma) is longer and has a distinct N-terminus, compared to isoform alpha.
      Source sequence(s)
      AK300587, AL137222, BC110897, DN998807
      Consensus CDS
      CCDS5142.2
      UniProtKB/Swiss-Prot
      B4DUC3, Q9P0M2
      UniProtKB/TrEMBL
      F5GXD1
      Related
      ENSP00000405252.2, ENST00000431975.7
      Conserved Domains (3) summary
      PLN00108
      Location:87 → 281
      PLN00108; unknown protein; Provisional
      pfam10469
      Location:85 → 283
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
      pfam10470
      Location:290 → 346
      AKAP7_RIRII_bdg; PKA-RI-RII subunit binding domain of A-kinase anchor protein

    9. NM_138633.3 → NP_619539.1  A-kinase anchoring protein 7 isoform beta

      See identical proteins and their annotated locations for NP_619539.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta) uses an alternate in-frame exon, compared to variant alpha. The encoded isoform (beta) is longer than isoform alpha.
      Source sequence(s)
      AK290271, BC110897, DA144596
      Consensus CDS
      CCDS5144.1
      UniProtKB/Swiss-Prot
      A8K2K6, O43687, Q5TBR9, Q5TBS0, Q9HCZ8, Q9P0G4
      Related
      ENSP00000418208.2, ENST00000474850.2
      Conserved Domains (1) summary
      pfam10470
      Location:46 → 102
      AKAP7_RIRII_bdg; PKA-RI-RII subunit binding domain of A-kinase anchor protein

    RNA

    1. NR_164832.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136110, AL137063, AL137222

    2. NR_164833.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136110, AL137063, AL137222

    3. NR_164834.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136110, AL137063, AL137222

    4. NR_170716.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136110, AL137063, AL137222

    5. NR_170717.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136110, AL137063, AL137222

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      131125627..131283532
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011509.2 → XP_016866998.1  A-kinase anchoring protein 7 isoform X6

      UniProtKB/TrEMBL
      F5GXD1

    2. XM_047419568.1 → XP_047275524.1  A-kinase anchoring protein 7 isoform X2

    3. XM_017011506.2 → XP_016866995.2  A-kinase anchoring protein 7 isoform X1

    4. XM_047419569.1 → XP_047275525.1  A-kinase anchoring protein 7 isoform X4

    5. XM_047419572.1 → XP_047275528.1  A-kinase anchoring protein 7 isoform X8

    6. XM_024446589.2 → XP_024302357.2  A-kinase anchoring protein 7 isoform X3

    7. XM_017011507.2 → XP_016866996.2  A-kinase anchoring protein 7 isoform X4

    8. XM_047419570.1 → XP_047275526.1  A-kinase anchoring protein 7 isoform X4

    9. XM_005267229.5 → XP_005267286.1  A-kinase anchoring protein 7 isoform X7

      UniProtKB/TrEMBL
      F5GXD1
      Conserved Domains (1) summary
      pfam10469
      Location:63 → 261
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    10. XM_047419571.1 → XP_047275527.1  A-kinase anchoring protein 7 isoform X5

    11. XM_017011510.2 → XP_016866999.1  A-kinase anchoring protein 7 isoform X9

    12. XM_017011511.3 → XP_016867000.1  A-kinase anchoring protein 7 isoform X9

    RNA

    1. XR_001743754.3 RNA Sequence

    2. XR_001743755.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      132320223..132477983
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356844.1 → XP_054212819.1  A-kinase anchoring protein 7 isoform X7

    2. XM_054356838.1 → XP_054212813.1  A-kinase anchoring protein 7 isoform X2

    3. XM_054356837.1 → XP_054212812.1  A-kinase anchoring protein 7 isoform X1

    4. XM_054356840.1 → XP_054212815.1  A-kinase anchoring protein 7 isoform X4

    5. XM_054356846.1 → XP_054212821.1  A-kinase anchoring protein 7 isoform X8

    6. XM_054356839.1 → XP_054212814.1  A-kinase anchoring protein 7 isoform X3

    7. XM_054356841.1 → XP_054212816.1  A-kinase anchoring protein 7 isoform X4

    8. XM_054356842.1 → XP_054212817.1  A-kinase anchoring protein 7 isoform X4

    9. XM_054356845.1 → XP_054212820.1  A-kinase anchoring protein 7 isoform X7

    10. XM_054356843.1 → XP_054212818.1  A-kinase anchoring protein 7 isoform X5

    11. XM_054356847.1 → XP_054212822.1  A-kinase anchoring protein 7 isoform X9

    12. XM_054356848.1 → XP_054212823.1  A-kinase anchoring protein 7 isoform X9

    RNA

    1. XR_008487507.1 RNA Sequence

    2. XR_008487508.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43687.4 GenPept UniProtKB/Swiss-Prot:O43687
    Q9P0M2.2 GenPept UniProtKB/Swiss-Prot:Q9P0M2

    Gene LinkOut

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

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