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    AKAP12 A-kinase anchoring protein 12 [ Homo sapiens (human) ]

    Gene ID: 9590, updated on 17-Jun-2024

    Summary

    Official Symbol
    AKAP12provided by HGNC
    Official Full Name
    A-kinase anchoring protein 12provided by HGNC
    Primary source
    HGNC:HGNC:370
    See related
    Ensembl:ENSG00000131016 MIM:604698; AllianceGenome:HGNC:370
    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
    SSeCKS; AKAP250
    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 is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 48.0), fat (RPKM 27.1) and 20 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See AKAP12 in Genome Data Viewer
    Location:
    6q25.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (151239967..151358559)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (152440587..152559135)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (151561102..151679694)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:151529211-151529710 Neighboring gene RNA, U6 small nuclear 300, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr6:151550445-151550650 Neighboring gene ribosomal protein S12 pseudogene 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151560905-151561414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151561492-151562069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25280 Neighboring gene RNA, U6 small nuclear 1247, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:151612052-151612552 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:151633922-151634561 Neighboring gene RNY4 pseudogene 20 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:151645454-151645654 Neighboring gene RN7SK pseudogene 268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151662497-151663014 Neighboring gene uncharacterized LOC124901550 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:151675923-151676424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25281 Neighboring gene translation initiation factor IF-2-like Neighboring gene zinc finger and BTB domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17687 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:151712707-151713579 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 15 Neighboring gene required for meiotic nuclear division 1 homolog

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20945, FLJ97621, DKFZp686M0430, DKFZp686O0331

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenylate cyclase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase A binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to interleukin-1 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hepatic stellate cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of vascular permeability IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of hepatic stellate cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of nitric-oxide synthase biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of oligodendrocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein kinase A signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein kinase A signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of protein kinase A signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein kinase C signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    A-kinase anchor protein 12
    Names
    A kinase (PRKA) anchor protein 12
    A-kinase anchor protein, 250kDa
    AKAP 250
    Src-Suppressed C Kinase Substrate
    kinase scaffold protein gravin
    myasthenia gravis autoantigen gravin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029875.1 RefSeqGene

      Range
      4969..123561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001370346.1NP_001357275.1  A-kinase anchor protein 12 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL590413
      Consensus CDS
      CCDS94020.1
      Related
      ENSP00000352794.5, ENST00000359755.5
      Conserved Domains (3) summary
      PTZ00121
      Location:206855
      PTZ00121; MAEBL; Provisional
      PRK10811
      Location:778980
      rne; ribonuclease E; Reviewed
      pfam03832
      Location:501528
      WSK; WSK motif
    2. NM_005100.4NP_005091.2  A-kinase anchor protein 12 isoform 1

      See identical proteins and their annotated locations for NP_005091.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB003476, AL356535, AL590413, BC047728, CN480611, U81607
      Consensus CDS
      CCDS5229.1
      UniProtKB/Swiss-Prot
      O00310, O00498, Q02952, Q4LE68, Q5SZ80, Q5TGN1, Q68D82, Q99970
      Related
      ENSP00000384537.2, ENST00000402676.7
      Conserved Domains (2) summary
      pfam03832
      Location:606633
      WSK; WSK motif
      pfam12560
      Location:1080
      RAG1_imp_bd; RAG1 importin binding
    3. NM_144497.2NP_653080.1  A-kinase anchor protein 12 isoform 2

      See identical proteins and their annotated locations for NP_653080.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' segment, compared to variant 1, that results in a distinct 5' UTR and 5' coding region. The resulting isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB003476, AL590413, CN480611, DA055364, U81607
      Consensus CDS
      CCDS5230.1
      UniProtKB/Swiss-Prot
      Q02952
      Related
      ENSP00000346702.6, ENST00000354675.10
      Conserved Domains (1) summary
      pfam03832
      Location:508535
      WSK; WSK motif

    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
      151239967..151358559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011517.3XP_016867006.1  A-kinase anchor protein 12 isoform X1

      UniProtKB/Swiss-Prot
      O00310, O00498, Q02952, Q4LE68, Q5SZ80, Q5TGN1, Q68D82, Q99970
      Conserved Domains (2) summary
      pfam03832
      Location:606633
      WSK; WSK motif
      pfam12560
      Location:1080
      RAG1_imp_bd; RAG1 importin binding
    2. XM_047419579.1XP_047275535.1  A-kinase anchor protein 12 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      152440587..152559135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356863.1XP_054212838.1  A-kinase anchor protein 12 isoform X1

    2. XM_054356862.1XP_054212837.1  A-kinase anchor protein 12 isoform X1

    3. XM_054356864.1XP_054212839.1  A-kinase anchor protein 12 isoform X2