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

Gene ID: 158798, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119895893..119920716)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118271014..118295842)
105.20220307 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)

Genotypes

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 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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_2023_10

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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