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Aliases for AKAP13 Gene

Aliases for AKAP13 Gene

  • A Kinase (PRKA) Anchor Protein 13 2 3
  • Lymphoid Blast Crisis Oncogene 2 3 4
  • Ht31 3 4 6
  • LBC 3 4 6
  • BRX 3 4 6
  • Breast Cancer Nuclear Receptor-Binding Auxiliary Protein 3 4
  • Non-Oncogenic Rho GTPase-Specific GTP Exchange Factor 3 4
  • Guanine Nucleotide Exchange Factor Lbc 3 4
  • Protein Kinase A-Anchoring Protein 13 3 4
  • Human Thyroid-Anchoring Protein 31 3 4
  • LBC Oncogene 3 4
  • AKAP-Lbc 3 4
  • AKAP-13 3 4
  • PRKA13 3 4
  • P47 3 4
  • A-Kinase Anchor Protein 13 3
  • A-Kinase Anchoring Protein 3
  • PROTO-LBC 3
  • ARHGEF13 3
  • PROTO-LB 3
  • C-Lbc 3
  • HA-3 3

External Ids for AKAP13 Gene

Previous HGNC Symbols for AKAP13 Gene

  • LBC

Previous GeneCards Identifiers for AKAP13 Gene

  • GC15M082290
  • GC15P079144
  • GC15P083511
  • GC15P083653
  • GC15P083724
  • GC15P083578
  • GC15P085925
  • GC15P061986
  • GC15P085777

Summaries for AKAP13 Gene

Entrez Gene Summary for AKAP13 Gene

  • 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. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]

GeneCards Summary for AKAP13 Gene

AKAP13 (A Kinase (PRKA) Anchor Protein 13) is a Protein Coding gene. Diseases associated with AKAP13 include relapsing fever and breast cancer. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF11.

UniProtKB/Swiss-Prot for AKAP13 Gene

  • Anchors cAMP-dependent protein kinase (PKA) and acts as an adapter protein to selectively couple G alpha-13 and Rho. Augments gene activation by the estrogen receptor in an element-specific and ligand-dependent manner. Activates estrogen receptor beta by a p38 MAPK-dependent pathway. Stimulates exchange activity on Rho proteins in vitro, but not on CDC42, Ras or Rac and may bind calcium ions.

Gene Wiki entry for AKAP13 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKAP13 Gene

Genomics for AKAP13 Gene

Regulatory Elements for AKAP13 Gene

Genomic Location for AKAP13 Gene

Start:
85,380,571 bp from pter
End:
85,749,358 bp from pter
Size:
368,788 bases
Orientation:
Plus strand

Genomic View for AKAP13 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AKAP13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKAP13 Gene

Proteins for AKAP13 Gene

  • Protein details for AKAP13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12802-AKP13_HUMAN
    Recommended name:
    A-kinase anchor protein 13
    Protein Accession:
    Q12802
    Secondary Accessions:
    • Q14572
    • Q59FP6
    • Q86W90
    • Q8WXQ6
    • Q96JP6
    • Q96P79
    • Q9Y5T0
    • Q9Y5T6

    Protein attributes for AKAP13 Gene

    Size:
    2813 amino acids
    Molecular mass:
    307550 Da
    Quaternary structure:
    • Binds cAMP-dependent protein kinase (PKA) and to the RII-alpha regulatory subunit of PKA. Interacts with ESR1, ESR2, THRA, PPARA, RHOA and NME2.
    SequenceCaution:
    • Sequence=AAC50065.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAC50065.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAD21311.1; Type=Frameshift; Positions=2614, 2647; Evidence={ECO:0000305}; Sequence=AAD40799.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAD40799.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAL40923.1; Type=Frameshift; Positions=2614, 2647; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AKAP13 Gene

    Alternative splice isoforms for AKAP13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKAP13 Gene

Proteomics data for AKAP13 Gene at MOPED

Post-translational modifications for AKAP13 Gene

  • Ubiquitination at Lys186
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AKAP13 Gene

Domains for AKAP13 Gene

Gene Families for AKAP13 Gene

HGNC:
  • AKAP :A-kinase anchor proteins
  • ARHGEF :Rho guanine nucleotide exchange factors
  • PLEKH :Pleckstrin homology (PH) domain containing

Protein Domains for AKAP13 Gene

Suggested Antigen Peptide Sequences for AKAP13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12802

UniProtKB/Swiss-Prot:

AKP13_HUMAN :
  • Q12802
Domain:
  • Both the DH and PH domains are required for transforming activity.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
genes like me logo Genes that share domains with AKAP13: view

Function for AKAP13 Gene

Molecular function for AKAP13 Gene

GENATLAS Biochemistry: A kinase (PRKA regulatory subunit RII) anchor protein 13
UniProtKB/Swiss-Prot Function: Anchors cAMP-dependent protein kinase (PKA) and acts as an adapter protein to selectively couple G alpha-13 and Rho. Augments gene activation by the estrogen receptor in an element-specific and ligand-dependent manner. Activates estrogen receptor beta by a p38 MAPK-dependent pathway. Stimulates exchange activity on Rho proteins in vitro, but not on CDC42, Ras or Rac and may bind calcium ions.

Gene Ontology (GO) - Molecular Function for AKAP13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004691 cAMP-dependent protein kinase activity NAS 1618839
GO:0004871 signal transducer activity TAS 8290273
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 16301118
GO:0017048 Rho GTPase binding IEA --
genes like me logo Genes that share ontologies with AKAP13: view
genes like me logo Genes that share phenotypes with AKAP13: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AKAP13 Gene

Localization for AKAP13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKAP13 Gene

Cytoplasm. Nucleus. Membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AKAP13 Gene COMPARTMENTS Subcellular localization image for AKAP13 gene
Compartment Confidence
nucleus 5
cytosol 4
golgi apparatus 2
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for AKAP13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with AKAP13: view

Pathways for AKAP13 Gene

genes like me logo Genes that share pathways with AKAP13: view

Gene Ontology (GO) - Biological Process for AKAP13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation NAS 1618839
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0010611 regulation of cardiac muscle hypertrophy IEA --
GO:0035023 regulation of Rho protein signal transduction --
GO:0035556 intracellular signal transduction --
genes like me logo Genes that share ontologies with AKAP13: view

Compounds for AKAP13 Gene

(845) HMDB Compounds for AKAP13 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Cyclic AMP
  • Cyclic AMP
60-92-4
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available
DG(14:0/15:0/0:0)
  • Diacylglycerol(29:0)
Not Available

(24) Novoseek inferred chemical compound relationships for AKAP13 Gene

Compound -log(P) Hits PubMed IDs
cyclic amp 53.3 4
forskolin 36.5 2
threonine 27.6 3
calcium 23.8 7
serine 20.6 3
genes like me logo Genes that share compounds with AKAP13: view

Transcripts for AKAP13 Gene

Unigene Clusters for AKAP13 Gene

A kinase (PRKA) anchor protein 13:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AKAP13 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - -
SP2: -
SP3:
SP4:
SP5:
SP6:

ExUns: 22a · 22b ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for AKAP13 Gene

GeneLoc Exon Structure for
AKAP13
ECgene alternative splicing isoforms for
AKAP13

Expression for AKAP13 Gene

mRNA expression in normal human tissues for AKAP13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AKAP13 Gene

SOURCE GeneReport for Unigene cluster for AKAP13 Gene Hs.459211

mRNA Expression by UniProt/SwissProt for AKAP13 Gene

Q12802-AKP13_HUMAN
Tissue specificity: Expressed as a 5.3 kb transcript in hematopoietic cells, skeletal muscle, lung, heart, estrogen-responsive reproductive tissues, including breast ductal epithelium. Also found in testis and breast cancer cell lines. Predominantly expressed as a 10 kb transcript in the heart and at lower levels in the lung, placenta, kidney, pancreas, skeletal muscle and liver. Transcripts of between 6-9 kb are also expressed in myeloid and lymphoid lineages, a variety of epithelial tissues, and in skeletal muscle.
genes like me logo Genes that share expressions with AKAP13: view

No data available for mRNA differential expression in normal tissues for AKAP13 Gene

Orthologs for AKAP13 Gene

This gene was present in the common ancestor of animals.

Orthologs for AKAP13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKAP13 35
  • 99.41 (n)
  • 99.15 (a)
AKAP13 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
dog
(Canis familiaris)
Mammalia AKAP13 35
  • 83.89 (n)
  • 78.95 (a)
AKAP13 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Akap13 35
  • 79.71 (n)
  • 74.47 (a)
Akap13 16
Akap13 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AKAP13 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AKAP13 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Akap13 35
  • 79.45 (n)
  • 74.02 (a)
chicken
(Gallus gallus)
Aves AKAP13 35
  • 70.26 (n)
  • 68.42 (a)
AKAP13 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AKAP13 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akap13 35
  • 63.66 (n)
  • 61.49 (a)
zebrafish
(Danio rerio)
Actinopterygii AKAP13 (1 of 2) 36
  • 59 (a)
OneToMany
AKAP13 (2 of 2) 36
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10188 36
  • 23 (a)
OneToMany
CG10188 37
  • 30 (a)
Species with no ortholog for AKAP13:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AKAP13 Gene

ENSEMBL:
Gene Tree for AKAP13 (if available)
TreeFam:
Gene Tree for AKAP13 (if available)

Paralogs for AKAP13 Gene

Selected SIMAP similar genes for AKAP13 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with AKAP13: view

Variants for AKAP13 Gene

Sequence variations from dbSNP and Humsavar for AKAP13 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs8110 -- 85,749,093(-) ATTTG(C/G)AAACA utr-variant-3-prime
rs13225 -- 85,748,883(+) CACAC(C/G)TTCCC utr-variant-3-prime
rs13511 -- 85,741,586(-) GCTCT(A/G)TATTT intron-variant
rs17074 -- 85,749,236(-) GGCAA(A/T)GAGAA utr-variant-3-prime
rs49362 -- 85,686,771(+) GCAAT(A/G)TAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AKAP13 Gene

Variant ID Type Subtype PubMed ID
nsv428311 CNV Gain 18775914
nsv518064 CNV Gain 19592680
esv2751538 CNV Gain 17911159
dgv323n27 CNV Gain 19166990
dgv2431n71 CNV Gain 21882294
nsv904463 CNV Gain 21882294
esv2656709 CNV Deletion 23128226
esv21779 CNV Loss 19812545
nsv516068 CNV Loss 19592680
nsv510670 CNV Loss 20534489
nsv457228 CNV Loss 19166990
nsv457229 CNV Loss 19166990
nsv526173 CNV Loss 19592680
esv22016 CNV Loss 19812545
esv4400 CNV Deletion 18987735
esv2749971 CNV Deletion 23290073
dgv465e199 CNV Deletion 23128226
dgv445n67 CNV Loss 20364138
esv32946 CNV Loss 17666407
esv2749972 CNV Deletion 23290073
esv2749973 CNV Deletion 23290073
esv3421 CNV Deletion 18987735
esv2749975 CNV Deletion 23290073
nsv94598 CNV Loss 16902084
nsv525771 CNV Loss 19592680
nsv524939 CNV Loss 19592680
esv2599314 CNV Deletion 19546169
esv270414 CNV Insertion 20981092
nsv827424 CNV Gain 20364138
esv259980 OTHER Complex 20981092
esv2749976 CNV Deletion 23290073
nsv516322 CNV Loss 19592680
nsv904464 CNV Loss 21882294

Relevant External Links for AKAP13 Gene

HapMap Linkage Disequilibrium report
AKAP13
Human Gene Mutation Database (HGMD)
AKAP13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKAP13 Gene

Disorders for AKAP13 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for AKAP13 Gene including...

Search for AKAP13 Gene in MalaCards »

(2) University of Copenhagen DISEASES for AKAP13 Gene

(8) Novoseek inferred disease relationships for AKAP13 Gene

Disease -log(P) Hits PubMed IDs
cardiac hypertrophy 21.6 1
cystic fibrosis 4.64 1
cancer 2.68 4
tumors 1.5 1
astrocytoma 0 1

Relevant External Links for AKAP13

Genetic Association Database (GAD)
AKAP13
Human Genome Epidemiology (HuGE) Navigator
AKAP13
genes like me logo Genes that share disorders with AKAP13: view

No data available for UniProtKB/Swiss-Prot for AKAP13 Gene

Publications for AKAP13 Gene

  1. Characterization of Brx, a novel Dbl family member that modulates estrogen receptor action. (PMID: 9627117) Rubino D. … Segars J. (Oncogene 1998) 2 3 4 23
  2. Novel human oncogene lbc detected by transfection with distinct homology regions to signal transduction products. (PMID: 8290273) Toksoz D. … Williams D.A. (Oncogene 1994) 3 4 23
  3. AKAP-Lbc anchors protein kinase A and nucleates Galpha 12-selective Rho-mediated stress fiber formation. (PMID: 11546812) Diviani D. … Scott J.D. (J. Biol. Chem. 2001) 3 4 23
  4. Ht31: the first protein kinase A anchoring protein to integrate protein kinase A and Rho signaling. (PMID: 11696353) Klussmann E. … Rosenthal W. (FEBS Lett. 2001) 3 4 23
  5. Lbc proto-oncogene product binds to and could be negatively regulated by metastasis suppressor nm23-H2. (PMID: 15249197) Iwashita S. … Miyamoto M. (Biochem. Biophys. Res. Commun. 2004) 3 4 23

Products for AKAP13 Gene

Sources for AKAP13 Gene

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