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

Gene ID: 9465, updated on 3-Apr-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
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Genomic context

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Location:
6q23.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (131125627..131283532)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132320223..132477983)
105.20220307 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. AKAP18 contains a phosphoesterase domain that binds AMP. Gold MG, et al. J Mol Biol, 2008 Feb 1. PMID 18082768, 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 (34) 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)

Genotypes

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 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 biological_process ND
No biological Data available
more info
  
involved_in modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein kinase A signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
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 nucleus IEA
Inferred from Electronic Annotation
more info
  
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_2023_10

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

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