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    AKAP14 A-kinase anchoring protein 14 [ Homo sapiens (human) ]

    Gene ID: 158798, updated on 27-Nov-2024

    Summary

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    Official Symbol
    AKAP14provided by HGNC
    Official Full Name
    A-kinase anchoring protein 14provided by HGNC
    Primary source
    HGNC:HGNC:24061
    See related
    Ensembl:ENSG00000186471 MIM:300462; AllianceGenome:HGNC:24061
    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
    AKAP28; PRKA14
    Summary
    The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 10.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See AKAP14 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119895893..119920716)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118271014..118295842)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119029856..119054679)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29902 Neighboring gene ring finger protein 113A Neighboring gene NADH:ubiquinone oxidoreductase subunit A1 Neighboring gene Sharpr-MPRA regulatory region 5043 Neighboring gene NFKB activating protein Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:119077451-119077951 Neighboring gene uncharacterized LOC124905209 Neighboring gene Rhox homeobox family member 1 pseudogene 3

    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. Characterization of an A-kinase anchoring protein in human ciliary axonemes. Kultgen PL, et al. Mol Biol Cell, 2002 Dec. PMID 12475942, Free PMC Article
    2. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    3. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article
    4. The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside. Sun X, et al. J Ginseng Res, 2022 Mar. PMID 35509820, Free PMC Article
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AKAP28 likely plays a role in the signaling necessary for efficient modulation of ciliary beat frequency
      Title: Characterization of an A-kinase anchoring protein in human ciliary axonemes.
    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 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 A regulatory subunit binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of cAMP-dependent protein kinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cAMP-dependent protein kinase complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    A-kinase anchor protein 14
    Names
    A kinase (PRKA) anchor protein 14
    A-kinase anchor protein 28 kDa
    A-kinase anchoring protein 28
    AKAP 28
    AKAP-14
    protein kinase A-anchoring protein 14

    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_013218.1 RefSeqGene

      Range
      4921..29744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008534.2 → NP_001008534.1  A-kinase anchor protein 14 isoform b

      See identical proteins and their annotated locations for NP_001008534.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b).
      Source sequence(s)
      AC002477, AF514781, BC066357
      Consensus CDS
      CCDS35376.1
      UniProtKB/Swiss-Prot
      Q86UN6
      Related
      ENSP00000360479.4, ENST00000371425.8
      Conserved Domains (1) summary
      pfam14469
      Location:67 → 127
      AKAP28; 28 kDa A-kinase anchor

    2. NM_001008535.2 → NP_001008535.1  A-kinase anchor protein 14 isoform c

      See identical proteins and their annotated locations for NP_001008535.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site, compared to variant 1, that results in a frameshift. It encodes isoform c which has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC002477, AF514782, BC066357, BG208671
      Consensus CDS
      CCDS35377.1
      UniProtKB/Swiss-Prot
      Q86UN6
      Related
      ENSP00000360476.1, ENST00000371422.5
      Conserved Domains (1) summary
      pfam14469
      Location:67 → 87
      AKAP28; 28 kDa A-kinase anchor

    3. NM_178813.6 → NP_848928.1  A-kinase anchor protein 14 isoform a

      See identical proteins and their annotated locations for NP_848928.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC002477, BC066357
      Consensus CDS
      CCDS14591.1
      UniProtKB/Swiss-Prot
      A6NNZ0, Q86UN4, Q86UN5, Q86UN6
      Related
      ENSP00000360485.3, ENST00000371431.8
      Conserved Domains (1) summary
      pfam14469
      Location:67 → 187
      AKAP28; 28 kDa A-kinase anchor

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      119895893..119920716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      118271014..118295842
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UN6.1 GenPept UniProtKB/Swiss-Prot:Q86UN6

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