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    AKAP1 A-kinase anchoring protein 1 [ Homo sapiens (human) ]

    Gene ID: 8165, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AKAP1provided by HGNC
    Official Full Name
    A-kinase anchoring protein 1provided by HGNC
    Primary source
    HGNC:HGNC:367
    See related
    Ensembl:ENSG00000121057 MIM:602449; AllianceGenome:HGNC:367
    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
    AKAP; PRKA1; AKAP84; TDRD17; AKAP121; AKAP149; D-AKAP1; PPP1R43; SAKAP84
    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 encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 41.4), heart (RPKM 27.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AKAP1 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (57085246..57121344)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (57959590..57995715)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (55162607..55198705)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55123409-55124336 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:55156412-55157150 Neighboring gene ring finger protein 126 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8744 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:55163183-55163685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:55168773-55169322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:55170245-55170744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55186230-55186831 Neighboring gene Sharpr-MPRA regulatory region 9462 Neighboring gene AKAP1 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55213025-55213556 Neighboring gene MPRA-validated peak2909 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:55273397-55274596 Neighboring gene uncharacterized LOC101927510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12427 Neighboring gene NANOG hESC enhancer GRCh37_chr17:55337123-55337646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12428 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:55365995-55366170 Neighboring gene musashi RNA binding protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:55415927-55416094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12430 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:55441475-55441718 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55456920-55457574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55478625-55479135 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:55488073-55488574 Neighboring gene MPRA-validated peak2912 silencer Neighboring gene Sharpr-MPRA regulatory region 14735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12434 Neighboring gene Sharpr-MPRA regulatory region 3702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12439 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55548443-55549306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55549307-55550170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:55562836-55563732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:55573395-55573896 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55584063-55584590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55588381-55588975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55588976-55589569 Neighboring gene uncharacterized LOC101927557

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AKAP1 in Renal Patients with AHF to Reduce Ferroptosis of Cardiomyocyte.
      Title: AKAP1 in Renal Patients with AHF to Reduce Ferroptosis of Cardiomyocyte.
    2. Role of A-Kinase Anchoring Protein 1 in Retinal Ganglion Cells: Neurodegeneration and Neuroprotection.
      Title: Role of A-Kinase Anchoring Protein 1 in Retinal Ganglion Cells: Neurodegeneration and Neuroprotection.
    3. AKAP1 Regulates Mitochondrial Dynamics during the Fatty-Acid-Promoted Maturation of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Indicated by Proteomics Sequencing.
      Title: AKAP1 Regulates Mitochondrial Dynamics during the Fatty-Acid-Promoted Maturation of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Indicated by Proteomics Sequencing.
    4. Induction of UCP1 and thermogenesis by a small molecule via AKAP1/PKA modulation.
      Title: Induction of UCP1 and thermogenesis by a small molecule via AKAP1/PKA modulation.
    5. A-kinase-anchoring protein 1 (dAKAP1)-based signaling complexes coordinate local protein synthesis at the mitochondrial surface.
      Title: A-kinase-anchoring protein 1 (dAKAP1)-based signaling complexes coordinate local protein synthesis at the mitochondrial surface.
    6. depletion of dAKAP1-PKA "signaling islands" from the outer mitochondrial membrane augments progression toward metastatic breast cancer
      Title: Depletion of dAKAP1-protein kinase A signaling islands from the outer mitochondrial membrane alters breast cancer cell metabolism and motility.
    7. AKAP1 is a transcriptional target of Myc, and it supports mTOR pathway and the growth of cancer cells.
      Title: Mitochondrial AKAP1 supports mTOR pathway and tumor growth.
    8. Furthermore, we discuss the role of hypoxia in prompting cellular stress and damage, which has been demonstrated to mediate the proteosomal degradation of AKAP121, leading to an increase in reactive oxgyen species production, mitochondrial dysfunction, and ultimately cell death. [review]
      Title: Pivotal role of AKAP121 in mitochondrial physiology.
    9. Functional characterization revealed an undescribed role for AMPK-dependent phosphorylation of AKAP1 in mitochondrial respiration.
      Title: Global Phosphoproteomic Analysis of Human Skeletal Muscle Reveals a Network of Exercise-Regulated Kinases and AMPK Substrates.
    10. AKAP 149-PKA-PDE4A complex localization is related with YTX effect in K-562 cell line
      Title: Role of AKAP 149-PKA-PDE4A complex in cell survival and cell differentiation processes.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    reverse transcriptase gag-pol AKAP149 is an HIV-1 RT binding protein. Amino acids 375-645 of APAK149 and amino acids 464-541 of HIV-1 RT p66 are involved in the binding between APAK149 and RT p66. A single-point mutant RT G462R fails to carry out reverse transcription PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Clone Names

    • MGC1807

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    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 antiviral innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    A-kinase anchor protein 1, mitochondrial
    Names
    A kinase (PRKA) anchor protein 1
    A-kinase anchor protein 149 kDa
    AKAP 149
    D-AKAP-1
    dual-specificity A-kinase anchoring protein 1
    protein kinase A anchoring protein 1
    protein kinase A1
    protein phosphatase 1, regulatory subunit 43
    spermatid A-kinase anchor protein 84
    testicular secretory protein Li 5
    tudor domain containing 17

    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_029985.1 RefSeqGene

      Range
      5055..41153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242902.2 → NP_001229831.1  A-kinase anchor protein 1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001229831.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5'UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC007114
      Consensus CDS
      CCDS11594.1
      UniProtKB/Swiss-Prot
      A8K8Q1, D3DTZ0, Q13320, Q92667, Q9BW14
      UniProtKB/TrEMBL
      A0A140VK05, B4DN86
      Related
      ENSP00000459968.1, ENST00000571629.5
      Conserved Domains (3) summary
      PRK00106
      Location:181 → 380
      PRK00106; hypothetical protein; Provisional
      cd00105
      Location:611 → 671
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam00567
      Location:711 → 826
      TUDOR; Tudor domain

    2. NM_001242903.2 → NP_001229832.1  A-kinase anchor protein 1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001229832.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5'UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC007114
      Consensus CDS
      CCDS11594.1
      UniProtKB/Swiss-Prot
      A8K8Q1, D3DTZ0, Q13320, Q92667, Q9BW14
      UniProtKB/TrEMBL
      A0A140VK05, B4DN86
      Related
      ENSP00000478212.1, ENST00000621116.4
      Conserved Domains (3) summary
      PRK00106
      Location:181 → 380
      PRK00106; hypothetical protein; Provisional
      cd00105
      Location:611 → 671
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam00567
      Location:711 → 826
      TUDOR; Tudor domain

    3. NM_001370423.1 → NP_001357352.1  A-kinase anchor protein 1, mitochondrial precursor

      Status: REVIEWED

      Source sequence(s)
      AC007114
      Consensus CDS
      CCDS11594.1
      UniProtKB/Swiss-Prot
      A8K8Q1, D3DTZ0, Q13320, Q92667, Q9BW14
      UniProtKB/TrEMBL
      A0A140VK05, B4DN86
      Conserved Domains (3) summary
      PRK00106
      Location:181 → 380
      PRK00106; hypothetical protein; Provisional
      cd00105
      Location:611 → 671
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam00567
      Location:711 → 826
      TUDOR; Tudor domain

    4. NM_001370424.1 → NP_001357353.1  A-kinase anchor protein 1, mitochondrial precursor

      Status: REVIEWED

      Source sequence(s)
      AC007114
      Consensus CDS
      CCDS11594.1
      UniProtKB/Swiss-Prot
      A8K8Q1, D3DTZ0, Q13320, Q92667, Q9BW14
      UniProtKB/TrEMBL
      A0A140VK05, B4DN86
      Related
      ENSP00000459895.1, ENST00000572557.5
      Conserved Domains (3) summary
      PRK00106
      Location:181 → 380
      PRK00106; hypothetical protein; Provisional
      cd00105
      Location:611 → 671
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam00567
      Location:711 → 826
      TUDOR; Tudor domain

    5. NM_001370425.1 → NP_001357354.1  A-kinase anchor protein 1, mitochondrial precursor

      Status: REVIEWED

      Source sequence(s)
      AC007114
      Consensus CDS
      CCDS11594.1
      UniProtKB/Swiss-Prot
      A8K8Q1, D3DTZ0, Q13320, Q92667, Q9BW14
      UniProtKB/TrEMBL
      A0A140VK05, B4DN86
      Conserved Domains (3) summary
      PRK00106
      Location:181 → 380
      PRK00106; hypothetical protein; Provisional
      cd00105
      Location:611 → 671
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam00567
      Location:711 → 826
      TUDOR; Tudor domain

    6. NM_001370426.1 → NP_001357355.1  A-kinase anchor protein 1, mitochondrial precursor

      Status: REVIEWED

      Source sequence(s)
      AC007114
      Consensus CDS
      CCDS11594.1
      UniProtKB/Swiss-Prot
      A8K8Q1, D3DTZ0, Q13320, Q92667, Q9BW14
      UniProtKB/TrEMBL
      A0A140VK05, B4DN86
      Conserved Domains (3) summary
      PRK00106
      Location:181 → 380
      PRK00106; hypothetical protein; Provisional
      cd00105
      Location:611 → 671
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam00567
      Location:711 → 826
      TUDOR; Tudor domain

    7. NM_001370427.1 → NP_001357356.1  A-kinase anchor protein 1, mitochondrial precursor

      Status: REVIEWED

      Source sequence(s)
      AC007114
      Consensus CDS
      CCDS11594.1
      UniProtKB/Swiss-Prot
      A8K8Q1, D3DTZ0, Q13320, Q92667, Q9BW14
      UniProtKB/TrEMBL
      A0A140VK05, B4DN86
      Conserved Domains (3) summary
      PRK00106
      Location:181 → 380
      PRK00106; hypothetical protein; Provisional
      cd00105
      Location:611 → 671
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam00567
      Location:711 → 826
      TUDOR; Tudor domain

    8. NM_003488.4 → NP_003479.1  A-kinase anchor protein 1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_003479.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest first intron.
      Source sequence(s)
      AC007114, BC000729, DA455114, X97335
      Consensus CDS
      CCDS11594.1
      UniProtKB/Swiss-Prot
      A8K8Q1, D3DTZ0, Q13320, Q92667, Q9BW14
      UniProtKB/TrEMBL
      A0A140VK05, B4DN86
      Related
      ENSP00000337736.3, ENST00000337714.8
      Conserved Domains (3) summary
      PRK00106
      Location:181 → 380
      PRK00106; hypothetical protein; Provisional
      cd00105
      Location:611 → 671
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam00567
      Location:711 → 826
      TUDOR; Tudor domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      57085246..57121344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      57959590..57995715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139275.1: Suppressed sequence

      Description
      NM_139275.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92667.1 GenPept UniProtKB/Swiss-Prot:Q92667

    Gene LinkOut

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

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