• Gene id: 11214

Gene Summary

• Gene Symbol: AKAP13   Gene   UCSC   Ensembl
• Aliases: AKAP-13, AKAP-Lbc, ARHGEF13, BRX, HA-3, Ht31, LBC, PRKA13, PROTO-LB, PROTO-LBC, c-lbc, p47
• Gene name: A-kinase anchoring protein 13
• Alternate names: A-kinase anchor protein 13, A kinase (PRKA) anchor protein 13, LBC oncogene, breast cancer nuclear receptor-binding auxiliary protein, guanine nucleotide exchange factor Lbc, human thyroid-anchoring protein 31, lymphoid blast crisis oncogene, non-oncogenic Rho G,
• Gene location: 15q25.3 (85380602: 85749357)     Exons: 39     NC_000015.10
• Gene summary(Entrez): 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 e
• OMIM: 604686

Protein Summary

• Protein general information: Q12802  
  • Name: A kinase anchor protein 13 (AKAP 13) (AKAP Lbc) (Breast cancer nuclear receptor binding auxiliary protein) (Guanine nucleotide exchange factor Lbc) (Human thyroid anchoring protein 31) (Lymphoid blast crisis oncogene) (LBC oncogene) (Non oncogenic Rho GTP
  • Length: 2813  
  • Mass: 307550
  • Tissue specificity: Detected in mammary gland (PubMed
• Sequence:

  MKLNPQQAPLYGDCVVTVLLAEEDKAEDDVVFYLVFLGSTLRHCTSTRKVSSDTLETIAPGHDCCETVKVQLCAS
  KEGLPVFVVAEEDFHFVQDEAYDAAQFLATSAGNQQALNFTRFLDQSGPPSGDVNSLDKKLVLAFRHLKLPTEWN
  VLGTDQSLHDAGPRETLMHFAVRLGLLRLTWFLLQKPGGRGALSIHNQEGATPVSLALERGYHKLHQLLTEENAG
  EPDSWSSLSYEIPYGDCSVRHHRELDIYTLTSESDSHHEHPFPGDGCTGPIFKLMNIQQQLMKTNLKQMDSLMPL
  MMTAQDPSSAPETDGQFLPCAPEPTDPQRLSSSEETESTQCCPGSPVAQTESPCDLSSIVEEENTDRSCRKKNKG
  VERKGEEVEPAPIVDSGTVSDQDSCLQSLPDCGVKGTEGLSSCGNRNEETGTKSSGMPTDQESLSSGDAVLQRDL
  VMEPGTAQYSSGGELGGISTTNVSTPDTAGEMEHGLMNPDATVWKNVLQGGESTKERFENSNIGTAGASDVHVTS
  KPVDKISVPNCAPAASSLDGNKPAESSLAFSNEETSTEKTAETETSRSREESADAPVDQNSVVIPAAAKDKISDG
  LEPYTLLAAGIGEAMSPSDLALLGLEEDVMPHQNSETNSSHAQSQKGKSSPICSTTGDDKLCADSACQQNTVTSS
  GDLVAKLCDNIVSESESTTARQPSSQDPPDASHCEDPQAHTVTSDPVRDTQERADFCPFKVVDNKGQRKDVKLDK
  PLTNMLEVVSHPHPVVPKMEKELVPDQAVISDSTFSLANSPGSESVTKDDALSFVPSQKEKGTATPELHTATDYR
  DGPDGNSNEPDTRPLEDRAVGLSTSSTAAELQHGMGNTSLTGLGGEHEGPAPPAIPEALNIKGNTDSSLQSVGKA
  TLALDSVLTEEGKLLVVSESSAAQEQDKDKAVTCSSIKENALSSGTLQEEQRTPPPGQDTQQFHEKSISADCAKD
  KALQLSNSPGASSAFLKAETEHNKEVAPQVSLLTQGGAAQSLVPPGASLATESRQEALGAEHNSSALLPCLLPDG
  SDGSDALNCSQPSPLDVGVKNTQSQGKTSACEVSGDVTVDVTGVNALQGMAEPRRENISHNTQDILIPNVLLSQE
  KNAVLGLPVALQDKAVTDPQGVGTPEMIPLDWEKGKLEGADHSCTMGDAEEAQIDDEAHPVLLQPVAKELPTDME
  LSAHDDGAPAGVREVMRAPPSGRERSTPSLPCMVSAQDAPLPKGADLIEEAASRIVDAVIEQVKAAGALLTEGEA
  CHMSLSSPELGPLTKGLESAFTEKVSTFPPGESLPMGSTPEEATGSLAGCFAGREEPEKIILPVQGPEPAAEMPD
  VKAEDEVDFRASSISEEVAVGSIAATLKMKQGPMTQAINRENWCTIEPCPDAASLLASKQSPECENFLDVGLGRE
  CTSKQGVLKRESGSDSDLFHSPSDDMDSIIFPKPEEEHLACDITGSSSSTDDTASLDRHSSHGSDVSLSQILKPN
  RSRDRQSLDGFYSHGMGAEGRESESEPADPGDVEEEEMDSITEVPANCSVLRSSMRSLSPFRRHSWGPGKNAASD
  AEMNHRSSMRVLGDVVRRPPIHRRSFSLEGLTGGAGVGNKPSSSLEVSSANAEELRHPFSGEERVDSLVSLSEED
  LESDQREHRMFDQQICHRSKQQGFNYCTSAISSPLTKSISLMTISHPGLDNSRPFHSTFHNTSANLTESITEENY
  NFLPHSPSKKDSEWKSGTKVSRTFSYIKNKMSSSKKSKEKEKEKDKIKEKEKDSKDKEKDKKTVNGHTFSSIPVV
  GPISCSQCMKPFTNKDAYTCANCSAFVHKGCRESLASCAKVKMKQPKGSLQAHDTSSLPTVIMRNKPSQPKERPR
  SAVLLVDETATTPIFANRRSQQSVSLSKSVSIQNITGVGNDENMSNTWKFLSHSTDSLNKISKVNESTESLTDEG
  VGTDMNEGQLLGDFEIESKQLEAESWSRIIDSKFLKQQKKDVVKRQEVIYELMQTEFHHVRTLKIMSGVYSQGMM
  ADLLFEQQMVEKLFPCLDELISIHSQFFQRILERKKESLVDKSEKNFLIKRIGDVLVNQFSGENAERLKKTYGKF
  CGQHNQSVNYFKDLYAKDKRFQAFVKKKMSSSVVRRLGIPECILLVTQRITKYPVLFQRILQCTKDNEVEQEDLA
  QSLSLVKDVIGAVDSKVASYEKKVRLNEIYTKTDSKSIMRMKSGQMFAKEDLKRKKLVRDGSVFLKNAAGRLKEV
  QAVLLTDILVFLQEKDQKYIFASLDQKSTVISLKKLIVREVAHEEKGLFLISMGMTDPEMVEVHASSKEERNSWI
  QIIQDTINTLNRDEDEGIPSENEEEKKMLDTRARELKEQLHQKDQKILLLLEEKEMIFRDMAECSTPLPEDCSPT
  HSPRVLFRSNTEEALKGGPLMKSAINEVEILQGLVSGNLGGTLGPTVSSPIEQDVVGPVSLPRRAETFGGFDSHQ
  MNASKGGEKEEGDDGQDLRRTESDSGLKKGGNANLVFMLKRNSEQVVQSVVHLYELLSALQGVVLQQDSYIEDQK
  LVLSERALTRSLSRPSSLIEQEKQRSLEKQRQDLANLQKQQAQYLEEKRRREREWEARERELREREALLAQREEE
  VQQGQQDLEKEREELQQKKGTYQYDLERLRAAQKQLEREQEQLRREAERLSQRQTERDLCQVSHPHTKLMRIPSF
  FPSPEEPPSPSAPSIAKSGSLDSELSVSPKRNSISRTHKDKGPFHILSSTSQTNKGPEGQSQAPASTSASTRLFG
  LTKPKEKKEKKKKNKTSRSQPGDGPASEVSAEGEEIFC

• Structural information:
  • Protein Domains: (1994..219-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (2231..233-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR028852  IPR035899  IPR000219  IPR002219  IPR011993   IPR041020  IPR001849  IPR018459  
  • Prosite: PS50010 PS50003 PS00479 PS50081
  • CDD: cd00160
  • PDB: 2DRN 2LG1 4D0N 4D0O 6BCA
  • PDBsum: 2DRN 2LG1 4D0N 4D0O 6BCA
  • DIP: 180
  • STRING: ENSP00000354718
• Other Databases: GeneCards:  AKAP13  Malacards:  AKAP13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005078	MAP-kinase scaffold activity	IBA	molecular function
GO:0015629	actin cytoskeleton	IBA	colocalizes with
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0071875	adrenergic receptor signaling pathway	IBA	biological process
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0035023	regulation of Rho protein signal transduction	IBA	biological process
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005078	MAP-kinase scaffold activity	IDA	molecular function
GO:0005938	cell cortex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0051018	protein kinase A binding	IDA	molecular function
GO:0060090	molecular adaptor activity	IDA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0030864	cortical actin cytoskeleton	IDA	colocalizes with
GO:0035025	positive regulation of Rho protein signal transduction	IDA	biological process
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0017048	Rho GTPase binding	IPI	molecular function
GO:0071875	adrenergic receptor signaling pathway	IMP	biological process
GO:0086023	adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process	ISS	biological process
GO:0071875	adrenergic receptor signaling pathway	IMP	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0035025	positive regulation of Rho protein signal transduction	IMP	biological process
GO:0060348	bone development	ISS	biological process
GO:0060297	regulation of sarcomere organization	ISS	biological process
GO:0055007	cardiac muscle cell differentiation	ISS	biological process
GO:0007507	heart development	ISS	biological process
GO:0004691	cAMP-dependent protein kinase activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0035023	regulation of Rho protein signal transduction	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1900169	regulation of glucocorticoid mediated signaling pathway	IEA	biological process
GO:0086023	adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0071875	adrenergic receptor signaling pathway	IEA	biological process
GO:0061049	cell growth involved in cardiac muscle cell development	IEA	biological process
GO:0051168	nuclear export	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043406	positive regulation of MAP kinase activity	IEA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0005078	MAP-kinase scaffold activity	IEA	molecular function
GO:0060348	bone development	IEA	biological process
GO:0060297	regulation of sarcomere organization	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0005884	actin filament	IEA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005938	cell cortex	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05163	Human cytomegalovirus infection
hsa04928	Parathyroid hormone synthesis, secretion and action

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq