Reviewed,
UniProtKB/Swiss-Prot Q99996 (AKAP9_HUMAN)
Last modified
December 15, 2009.
Version 95.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: A-kinase anchor protein 9 Short name=AKAP-9 Alternative name(s): Protein kinase A-anchoring protein 9 Short name=PRKA9 A-kinase anchor protein 450 kDa Short name=AKAP 450 A-kinase anchor protein 350 kDa Short name=AKAP 350 Short name=hgAKAP 350 AKAP 120-like protein Protein hyperion Protein yotiao Centrosome- and Golgi-localized PKN-associated protein Short name=CG-NAP | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 3911 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Binds to type II regulatory subunits of protein kinase A. Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. May be required to maintain the integrity of the Golgi apparatus. Isoform 4 is associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations. Ref.9 |
| Subunit structure | Interacts with the regulatory region of protein kinase N (PKN), protein phosphatase 2A (PP2A), protein phosphatase 1 (PP1) and the immature non-phosphorylated form of PKC epsilon. Interacts with CIP4 and FNBP1. Ref.9 |
| Subcellular location | Cytoplasm. Cytoplasm › cytoskeleton › centrosome. Golgi apparatus. Note: Cytoplasmic in parietal cells. Ref.9 |
| Tissue specificity | Widely expressed. Isoform 4 is highly expressed in skeletal muscle and in pancreas. |
| Domain | RII-binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer. |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.10 |
| Involvement in disease | Defects in AKAP9 are the cause of long QT syndrome type 11 (LQT11) [MIM:611820]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress. They can present with a sentinel event of sudden cardiac death in infancy. Ref.13 |
| Sequence caution | The sequence AAB86384.1 differs from that shown. Reason: Frameshift at position 1637. The sequence AAC60380.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton Golgi apparatus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Long QT syndrome |
| Domain | Coiled coil |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | signal transduction Traceable author statement. Source: ProtInc synaptic transmission Ref.1Traceable author statement. Source: ProtInc transportTraceable author statement. Source: ProtInc |
| Cellular component | Golgi apparatus Inferred from direct assay. Source: HPA centrosome Ref.2Inferred from direct assay. Source: HPA cytosolInferred from Experiment. Source: Reactome |
| Molecular function | receptor binding Ref.1 Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q99996-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q99996-2) The sequence of this isoform differs from the canonical sequence as follows: 17-28: Missing. 2895-2907: VFGFYNMCFSTLC → GSSIPELAHSDAYQTREICSS | ||||||
| Isoform 3 (identifier: Q99996-3) Also known as: CG-NAP; The sequence of this isoform differs from the canonical sequence as follows: 17-28: Missing. 2175-2182: Missing. 2895-2907: VFGFYNMCFSTLC → GSSIPELAHSDAYQTREICSS | ||||||
| Isoform 4 (identifier: Q99996-4) Also known as: Yotiao; The sequence of this isoform differs from the canonical sequence as follows: 1637-1643: QLQEEIK → LAQVRVL 1644-3911: Missing. | ||||||
| Isoform 5 (identifier: Q99996-5) The sequence of this isoform differs from the canonical sequence as follows: 2895-2948: Missing. | ||||||
| Isoform 6 (identifier: Q99996-6) Also known as: AKAP350; The sequence of this isoform differs from the canonical sequence as follows: 2175-2183: SADTFQKVE → Q 2895-2907: VFGFYNMCFSTLC → GSSIPELAHSDAYQTREICSS 3901-3911: STTQFHAGMRR → ALSLTTSWQHHSARPTAPLFFEILSHSLG |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 3911 | 3911 | A-kinase anchor protein 9 | PRO_0000064534 | |||||
Regions | |||||||||
| Region | 2554 – 2567 | 14 | PKA-RII subunit binding domain | ||||||
| Coiled coil | 164 – 914 | 751 | Potential | ||||||
| Coiled coil | 944 – 1022 | 79 | Potential | ||||||
| Coiled coil | 1100 – 1185 | 86 | Potential | ||||||
| Coiled coil | 1253 – 1280 | 28 | Potential | ||||||
| Coiled coil | 1336 – 1392 | 57 | Potential | ||||||
| Coiled coil | 1434 – 1459 | 26 | Potential | ||||||
| Coiled coil | 1585 – 1659 | 75 | Potential | ||||||
| Coiled coil | 1857 – 2455 | 599 | Potential | ||||||
| Coiled coil | 2544 – 2561 | 18 | Potential | ||||||
| Coiled coil | 2603 – 2776 | 174 | Potential | ||||||
| Coiled coil | 3065 – 3092 | 28 | Potential | ||||||
| Coiled coil | 3124 – 3470 | 347 | Potential | ||||||
| Coiled coil | 3587 – 3689 | 103 | Potential | ||||||
| Compositional bias | 203 – 292 | 90 | Gln-rich | ||||||
| Compositional bias | 321 – 1010 | 690 | Glu-rich | ||||||
| Compositional bias | 1846 – 2772 | 927 | Glu-rich | ||||||
| Compositional bias | 3726 – 3730 | 5 | Poly-Leu | ||||||
Amino acid modifications | |||||||||
| Modified residue | 165 | 1 | Phosphoserine | ||||||
| Modified residue | 3846 | 1 | Phosphoserine | ||||||
| Modified residue | 3869 | 1 | Phosphoserine Ref.10 | ||||||
Natural variations | |||||||||
| Alternative sequence | 17 – 28 | 12 | Missing in isoform 2 and isoform 3. | VSP_004102 | |||||
| Alternative sequence | 1637 – 1643 | 7 | QLQEEIK → LAQVRVL in isoform 4. | VSP_004103 | |||||
| Alternative sequence | 1644 – 3911 | 2268 | Missing in isoform 4. | VSP_004104 | |||||
| Alternative sequence | 2175 – 2183 | 9 | SADTFQKVE → Q in isoform 6. | VSP_004106 | |||||
| Alternative sequence | 2175 – 2182 | 8 | Missing in isoform 3. | VSP_004105 | |||||
| Alternative sequence | 2895 – 2948 | 54 | Missing in isoform 5. | VSP_004108 | |||||
| Alternative sequence | 2895 – 2907 | 13 | VFGFY…FSTLC → GSSIPELAHSDAYQTREICS S in isoform 2, isoform 3 and isoform 6. | VSP_004107 | |||||
| Alternative sequence | 3901 – 3911 | 11 | STTQFHAGMRR → ALSLTTSWQHHSARPTAPLF FEILSHSLG in isoform 6. | VSP_004109 | |||||
| Natural variant | 475 | 1 | M → I: dbSNP rs6964587. Ref.3 | VAR_024249 | |||||
| Natural variant | 1347 | 1 | K → KQ Ref.2 | VAR_010926 | |||||
| Natural variant | 1582 | 1 | S → L in LQT11. Ref.13 | VAR_043489 | |||||
| Natural variant | 2421 | 1 | M → I in a colorectal cancer sample; somatic mutation. Ref.12 | VAR_035785 | |||||
| Natural variant | 2496 | 1 | K → R: dbSNP rs35759833. | VAR_043490 | |||||
| Natural variant | 2804 | 1 | N → S: dbSNP rs6960867. | VAR_030162 | |||||
| Natural variant | 2983 | 1 | P → S: dbSNP rs1063242. Ref.3 Ref.7 Ref.8 | VAR_030163 | |||||
| Natural variant | 3301 | 1 | E → Q in a breast cancer sample; somatic mutation. Ref.12 | VAR_035786 | |||||
| Natural variant | 3448 | 1 | Q → R: dbSNP rs34956633. | VAR_043491 | |||||
| Natural variant | 3618 | 1 | M → V: dbSNP rs34327395. | VAR_043492 | |||||
Experimental info | |||||||||
| Sequence conflict | 76 | 1 | E → Q in BAA78718. Ref.3 | ||||||
| Sequence conflict | 554 | 1 | E → G in BAA78718. Ref.3 | ||||||
| Sequence conflict | 638 | 1 | R → S in BAA78718. Ref.3 | ||||||
| Sequence conflict | 663 | 1 | N → S in BAA78718. Ref.3 | ||||||
| Sequence conflict | 913 | 1 | H → N in BAA78718. Ref.3 | ||||||
| Sequence conflict | 956 | 1 | K → N in BAA78718. Ref.3 | ||||||
| Sequence conflict | 980 – 982 | 3 | QKH → PKP in AAB86384. Ref.1 | ||||||
| Sequence conflict | 980 – 982 | 3 | QKH → PKP in CAB40713. Ref.2 | ||||||
| Sequence conflict | 997 | 1 | Q → P in AAB86384. Ref.1 | ||||||
| Sequence conflict | 997 | 1 | Q → P in CAB40713. Ref.2 | ||||||
| Sequence conflict | 1001 | 1 | Q → P in AAB86384. Ref.1 | ||||||
| Sequence conflict | 1001 | 1 | Q → P in CAB40713. Ref.2 | ||||||
| Sequence conflict | 1020 | 1 | N → D in BAA78718. Ref.3 | ||||||
| Sequence conflict | 1028 | 1 | V → E in BAA78718. Ref.3 | ||||||
| Sequence conflict | 1626 | 1 | R → P in AAB86384. Ref.1 | ||||||
| Sequence conflict | 1626 | 1 | R → P in CAB40713. Ref.2 | ||||||
| Sequence conflict | 1703 | 1 | N → T in BAA78718. Ref.3 | ||||||
| Sequence conflict | 1707 | 1 | V → G in BAA78718. Ref.3 | ||||||
| Sequence conflict | 1802 – 1803 | 2 | Missing in AAD22767. Ref.7 | ||||||
| Sequence conflict | 1843 | 1 | A → P in BAA78718. Ref.3 | ||||||
| Sequence conflict | 1956 | 1 | I → V in BAA78718. Ref.3 | ||||||
| Sequence conflict | 2027 | 1 | V → D in AAD22767. Ref.7 | ||||||
| Sequence conflict | 2157 – 2158 | 2 | EI → HE in AAD39719. Ref.7 | ||||||
| Sequence conflict | 2169 | 1 | E → V in BAA78718. Ref.3 | ||||||
| Sequence conflict | 2514 | 1 | L → R in BAA78718. Ref.3 | ||||||
| Sequence conflict | 2851 | 1 | I → N in BAA34523. Ref.8 | ||||||
| Sequence conflict | 2957 | 1 | E → D in BAA78718. Ref.3 | ||||||
| Sequence conflict | 3087 | 1 | Q → H in BAA78718. Ref.3 | ||||||
| Sequence conflict | 3218 | 1 | Q → H in BAA78718. Ref.3 | ||||||
| Sequence conflict | 3307 – 3309 | 3 | ESE → QSQ in BAA78718. Ref.3 | ||||||
| Sequence conflict | 3751 | 1 | P → A in BAA78718. Ref.3 | ||||||
| Sequence conflict | 3833 | 1 | T → S in BAA78718. Ref.3 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Yotiao, a novel protein of neuromuscular junction and brain that interacts with specific splice variants of NMDA receptor subunit NR1." Lin J.W., Wyszynski M., Madhavan R., Sealock R., Kim J.U., Sheng M. J. Neurosci. 18:2017-2027(1998) [PubMed: 9482789] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4). Tissue: Brain. |
| [2] | "Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450." Witczak O., Skaalhegg B.S., Keryer G., Bornens M., Tasken K., Jahnsen T., Oerstavik S. EMBO J. 18:1858-1868(1999) [PubMed: 10202149] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT GLN-1347 INS. |
| [3] | "Characterization of a novel giant scaffolding protein, CG-NAP, that anchors multiple signaling enzymes to centrosome and the Golgi apparatus." Takahashi M., Shibata H., Shimakawa M., Miyamoto M., Mukai H., Ono Y. J. Biol. Chem. 274:17267-17274(1999) [PubMed: 10358086] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), VARIANTS ILE-475 AND SER-2983. Tissue: Brain. |
| [4] | "Cloning of Hyperion." Kemmner W.A., Deiss S., Schwarz U. Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [5] | "The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. Wilson R.K.Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. Tsui L.-C.Science 300:767-772(2003) [PubMed: 12690205] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "AKAP350, a multiply spliced protein kinase A-anchoring protein associated with centrosomes." Schmidt P.H., Dransfield D.T., Claudio J.O., Hawley R.G., Trotter K.W., Milgram S.L., Goldenring J.R. J. Biol. Chem. 274:3055-3066(1999) [PubMed: 9915845] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 323-3911 (ISOFORM 2), NUCLEOTIDE SEQUENCE [MRNA] OF 2157-3911 (ISOFORM 6), VARIANT SER-2983. Tissue: Gastric parietal cell and Lung. |
| [8] | "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:277-286(1998) [PubMed: 9872452] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2212-3911 (ISOFORMS 2/3), VARIANT SER-2983. Tissue: Brain. |
| [9] | "AKAP350 interaction with cdc42 interacting protein 4 at the Golgi apparatus." Larocca M.C., Shanks R.A., Tian L., Nelson D.L., Stewart D.M., Goldenring J.R. Mol. Biol. Cell 15:2771-2781(2004) [PubMed: 15047863] [Abstract] Cited for: FUNCTION, INTERACTION WITH CIP4 AND FNBP1, SUBCELLULAR LOCATION. |
| [10] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-3869, MASS SPECTROMETRY. |
| [11] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-165 AND SER-3846, MASS SPECTROMETRY. Tissue: T-cell. |
| [12] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ILE-2421 AND GLN-3301. |
| [13] | "Mutation of an A-kinase-anchoring protein causes long-QT syndrome." Chen L., Marquardt M.L., Tester D.J., Sampson K.J., Ackerman M.J., Kass R.S. Proc. Natl. Acad. Sci. U.S.A. 104:20990-20995(2007) [PubMed: 18093912] [Abstract] Cited for: VARIANT LQT11 LEU-1582. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AJ131693 mRNA. Translation: CAB40713.1. AB019691 mRNA. Translation: BAA78718.1. AJ010770 Genomic DNA. Translation: CAA09361.1. AF026245 mRNA. Translation: AAB86384.1. Frameshift. AC004013 Genomic DNA. Translation: AAB96867.2. AC000066 Genomic DNA. Translation: AAC60380.1. Sequence problems. AC000120 Genomic DNA. Translation: AAS07419.1. CH236949 Genomic DNA. Translation: EAL24155.1. CH236949 Genomic DNA. Translation: EAL24156.1. CH236949 Genomic DNA. Translation: EAL24157.1. AF083037 mRNA. Translation: AAD22767.1. AF091711 mRNA. Translation: AAD39719.1. AB018346 mRNA. Translation: BAA34523.1. | |
| IPI | IPI00019223. IPI00220624. IPI00220625. IPI00220627. IPI00220628. IPI00793082. |
| PIR | T08880. |
| RefSeq | NP_005742.4. NP_671714.1. |
| UniGene | Hs.651221 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-29942N. DIP-46407N. |
| IntAct | Q99996. 8 interactions. |
| STRING | Q99996. |
PTM databases | |
| PhosphoSite | Q99996. |
Proteomic databases | |
| PRIDE | Q99996. |
Genome annotation databases | |
| Ensembl | ENST00000359028; ENSP00000351922; ENSG00000127914; Homo sapiens. [Genome view] |
| GeneID | 10142. |
| KEGG | hsa:10142. |
| UCSC | uc003ulf.1. human. uc003ulg.1. human. uc003ulh.1. human. |
Organism-specific databases | |
| CTD | 10142. |
| GeneCards | GC07P091408. |
| H-InvDB | HIX0006836. |
| HGNC | HGNC:379. AKAP9. |
| HPA | CAB012909. HPA008548. HPA026109. |
| MIM | 604001. gene. 611820. phenotype. |
| PharmGKB | PA24673. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q99996. |
| OMA | RHVLGIL. |
Enzyme and pathway databases | |
| Reactome | REACT_152. Cell Cycle, Mitotic. |
Gene expression databases | |
| ArrayExpress | Q99996. |
| Bgee | Q99996. |
| Genevestigator | Q99996. |
| GermOnline | ENSG00000127914. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR019528. PACT_domain. [Graphical view] |
| Pfam | PF10495. PACT_coil_coil. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 38371. |
| SOURCE | Search... |
Entry information
| Entry name | AKAP9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q99996 Secondary accession number(s): A4D1F0 Q9Y6Y2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |

Clusters with


