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

Gene ID: 9590, updated on 14-Nov-2024

Summary

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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
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Genomic context

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See AKAP12 in Genome Data Viewer
Location:
6q25.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (151239967..151358559)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (152440587..152559135)
RS_2024_09 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

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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. AKAP12 Upregulation Associates With PDE8A to Accelerate Cardiac Dysfunction.
    Title: AKAP12 Upregulation Associates With PDE8A to Accelerate Cardiac Dysfunction.
  2. AKAP12 and IGFBP4 Are Prognostic Factors for Chronic Lymphocytic Leukemia.
    Title: AKAP12 and IGFBP4 Are Prognostic Factors for Chronic Lymphocytic Leukemia.
  3. AKAP12 inhibits esophageal squamous carcinoma cell proliferation, migration, and cell cycle via the PI3K/AKT signaling pathway.
    Title: AKAP12 inhibits esophageal squamous carcinoma cell proliferation, migration, and cell cycle via the PI3K/AKT signaling pathway.
  4. AKAP12 promotes cancer stem cell-like phenotypes and activates STAT3 in colorectal cancer.
    Title: AKAP12 promotes cancer stem cell-like phenotypes and activates STAT3 in colorectal cancer.
  5. Circ_0001777 Affects Triple-negative Breast Cancer Progression Through the miR-95-3p/AKAP12 Axis.
    Title: Circ_0001777 Affects Triple-negative Breast Cancer Progression Through the miR-95-3p/AKAP12 Axis.
  6. HDAC6-dependent deacetylation of AKAP12 dictates its ubiquitination and promotes colon cancer metastasis.
    Title: HDAC6-dependent deacetylation of AKAP12 dictates its ubiquitination and promotes colon cancer metastasis.
  7. Comprehensive Analysis of the Immune Implication of AKAP12 in Stomach Adenocarcinoma.
    Title: Comprehensive Analysis of the Immune Implication of AKAP12 in Stomach Adenocarcinoma.
  8. Physiologic and pathophysiologic roles of AKAP12.
    Title: Physiologic and pathophysiologic roles of AKAP12.
  9. Overexpression of miR-146a promotes cell proliferation and migration in a model of diabetic foot ulcers by regulating the AKAP12 axis.
    Title: Overexpression of miR-146a promotes cell proliferation and migration in a model of diabetic foot ulcers by regulating the AKAP12 axis.
  10. AKAP12/Gravin is over-expressed in patients with ulcerative colitis.
    Title: AKAP12/Gravin is over-expressed in patients with ulcerative colitis.
Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

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

  • 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 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

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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)

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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_029875.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001370346.1 → NP_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:206 → 855
    PTZ00121; MAEBL; Provisional
    PRK10811
    Location:778 → 980
    rne; ribonuclease E; Reviewed
    pfam03832
    Location:501 → 528
    WSK; WSK motif

  2. NM_005100.4 → NP_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:606 → 633
    WSK; WSK motif
    pfam12560
    Location:10 → 80
    RAG1_imp_bd; RAG1 importin binding

  3. NM_144497.2 → NP_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:508 → 535
    WSK; WSK motif

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_000006.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017011517.3 → XP_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:606 → 633
    WSK; WSK motif
    pfam12560
    Location:10 → 80
    RAG1_imp_bd; RAG1 importin binding

  2. XM_047419579.1 → XP_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_054356863.1 → XP_054212838.1  A-kinase anchor protein 12 isoform X1

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02952.4 GenPept UniProtKB/Swiss-Prot:Q02952

Gene LinkOut

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