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

Gene ID: 9590, updated on 29-Nov-2020

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
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

Genomic context

See AKAP12 in Genome Data Viewer
Location:
6q25.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (151239815..151358559)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (151561134..151679694)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723831 Neighboring gene RNA, U6 small nuclear 300, pseudogene Neighboring gene ribosomal protein S12 pseudogene 11 Neighboring gene RNA, U6 small nuclear 1247, pseudogene Neighboring gene RNY4 pseudogene 20 Neighboring gene RN7SK pseudogene 268 Neighboring gene zinc finger and BTB domain containing 2 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

Associated conditions

Description Tests
A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20945, FLJ97621, DKFZp686M0430, DKFZp686O0331

Gene Ontology Provided by GOA

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

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
    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
    Q02952
    UniProtKB/TrEMBL
    Q86TJ9
    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: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    151239815..151358559
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011517.2XP_016867006.1  A-kinase anchor protein 12 isoform X1

    UniProtKB/Swiss-Prot
    Q02952
    Conserved Domains (2) summary
    pfam03832
    Location:606633
    WSK; WSK motif
    pfam12560
    Location:1080
    RAG1_imp_bd; RAG1 importin binding
  2. XM_017011518.1XP_016867007.1  A-kinase anchor protein 12 isoform X3

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