AKAP11 (original) (raw)

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Human protein-coding gene

AKAP11
Identifiers
Aliases AKAP11, AKAP-11, AKAP220, PPP1R44, PRKA11, A-kinase anchoring protein 11
External IDs OMIM: 604696; MGI: 2684060; HomoloGene: 8279; GeneCards: AKAP11; OMA:AKAP11 - orthologs
Gene location (Human)Chromosome 13 (human)Chr.Chromosome 13 (human)[1]Chromosome 13 (human)Genomic location for AKAP11Genomic location for AKAP11Band13q14.11Start42,272,152 bp[1]End42,323,261 bp[1]
Gene location (Mouse)Chromosome 14 (mouse)Chr.Chromosome 14 (mouse)[2]Chromosome 14 (mouse)Genomic location for AKAP11Genomic location for AKAP11Band14|14 D3Start78,729,686 bp[2]End78,774,248 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inBrodmann area 46postcentral gyrusorbitofrontal cortexPonsfrontal polelateral nuclear group of thalamussubthalamic nucleussuperior frontal gyrusmiddle frontal gyrusRegion I of hippocampus properTop expressed inRegion I of hippocampus propersubstantia nigraolfactory tuberclenucleus of stria terminalistrigeminal ganglionpiriform cortexanterior amygdaloid areasubiculumventromedial nucleuslateral septal nucleusMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function protein phosphatase 1 binding protein kinase A binding protein binding Cellular component cytoplasm peroxisome cytoskeleton microtubule organizing center nucleolus cytosol plasma membrane Biological process intracellular signal transduction regulation of protein kinase A signaling protein localization Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez11215219181EnsemblENSG00000023516ENSMUSG00000022016UniProtQ9UKA4n/aRefSeq (mRNA)NM_016248NM_144490NM_001164503NM_001346784RefSeq (protein)NP_057332n/aLocation (UCSC)Chr 13: 42.27 – 42.32 MbChr 14: 78.73 – 78.77 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

A-kinase anchor protein 11 is an enzyme that in humans is encoded by the AKAP11 gene.[5][6][7]

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 at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function.[7]

AKAP11 has been shown to interact with:

Role in bipolar disorder

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AKAP11 has been identified as a definitive risk gene for bipolar disorder based on a whole-exome study of 13933 patients with bipolar disorder matched with 14422 controls.[14]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000023516 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022016 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (December 1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
  6. ^ a b Lester LB, Coghlan VM, Nauert B, Scott JD (June 1996). "Cloning and characterization of a novel A-kinase anchoring protein. AKAP 220, association with testicular peroxisomes" (PDF). J. Biol. Chem. 271 (16): 9460–5. doi:10.1074/jbc.271.16.9460. PMID 8621616.
  7. ^ a b "Entrez Gene: AKAP11 A kinase (PRKA) anchor protein 11".
  8. ^ a b c Tanji C, Yamamoto H, Yorioka N, Kohno N, Kikuchi K, Kikuchi A (October 2002). "A-kinase anchoring protein AKAP220 binds to glycogen synthase kinase-3beta (GSK-3beta ) and mediates protein kinase A-dependent inhibition of GSK-3beta". J. Biol. Chem. 277 (40): 36955–61. doi:10.1074/jbc.M206210200. PMID 12147701.
  9. ^ Schillace RV, Scott JD (March 1999). "Association of the type 1 protein phosphatase PP1 with the A-kinase anchoring protein AKAP220". Curr. Biol. 9 (6): 321–4. Bibcode:1999CBio....9..321S. doi:10.1016/S0960-9822(99)80141-9. PMID 10209101.
  10. ^ Alto NM, Soderling SH, Hoshi N, Langeberg LK, Fayos R, Jennings PA, Scott JD (April 2003). "Bioinformatic design of A-kinase anchoring protein-in silico: a potent and selective peptide antagonist of type II protein kinase A anchoring". Proc. Natl. Acad. Sci. U.S.A. 100 (8): 4445–50. Bibcode:2003PNAS..100.4445A. doi:10.1073/pnas.0330734100. PMC 153575. PMID 12672969.
  11. ^ Reinton N, Collas P, Haugen TB, Skâlhegg BS, Hansson V, Jahnsen T, Taskén K (July 2000). "Localization of a novel human A-kinase-anchoring protein, hAKAP220, during spermatogenesis". Dev. Biol. 223 (1): 194–204. doi:10.1006/dbio.2000.9725. PMID 10864471.
  12. ^ Huttlin EL, Ting L, Bruckner RJ, Gebreab F, Gygi MP, Szpyt J, et al. (2015). "The BioPlex Network: A Systematic Exploration of the Human Interactome". Cell. 162 (2): 425–40. doi:10.1016/j.cell.2015.06.043. PMC 4617211. PMID 26186194.
  13. ^ Mikitova V, Levine TP (2012). "Analysis of the key elements of FFAT-like motifs identifies new proteins that potentially bind VAP on the ER, including two AKAPs and FAPP2". PLOS ONE. 7 (1): e30455. Bibcode:2012PLoSO...730455M. doi:10.1371/journal.pone.0030455. PMC 3261905. PMID 22276202.
  14. ^ Palmer DS, Howrigan DP, Chapman SB, Adolfsson R, Bass N, Blackwood D, Boks MP, Chen CY, Churchhouse C, Corvin AP, Craddock N, Curtis D, Di Florio A, Dickerson F, Freimer NB, Goes FS, Jia X, Jones I, Jones L, Jonsson L, Kahn RS, Landén M, Locke AE, McIntosh AM, McQuillin A, Morris DW, O'Donovan MC, Ophoff RA, Owen MJ, Pedersen NL, Posthuma D, Reif A, Risch N, Schaefer C, Scott L, Singh T, Smoller JW, Solomonson M, St Clair D, Stahl EA, Vreeker A, Walters JT, Wang W, Watts A, Yolken R, Zandi PP, Neale BM (2022). "Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia". Nature Genetics. 54: 541--547.