Q13023 (AKAP6_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 99.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: A-kinase anchor protein 6 Short name=AKAP-6 Alternative name(s): A-kinase anchor protein 100 kDa Short name=AKAP 100 Protein kinase A-anchoring protein 6 Short name=PRKA6 mAKAP | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 2319 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the nuclear membrane or sarcoplasmic reticulum. May act as an adapter for assembling multiprotein complexes. |
| Subunit structure | Interacts with RII subunit of PKA, phosphatase 2B (calcineurin) and AKAP79. |
| Subcellular location | Sarcoplasmic reticulum. Nucleus membrane. Note: In heart muscle. Participation of multiple targeting signals allow correct intracellular targeting. These may be repeated motifs rich in basic and hydrophobic amino acids, palmitoylated/myristoylated motifs or alternatively splice targeting sequences. |
| Tissue specificity | Highly expressed in cardiac and skeletal muscle, followed by brain. |
| Domain | RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer. |
| Sequence similarities | Contains 2 spectrin repeats. |
| Sequence caution | The sequence BAA20770.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane Nucleus Sarcoplasmic reticulum |
| Coding sequence diversity | Polymorphism |
| Domain | Repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | protein targeting Non-traceable author statement Ref.1Ref.6. Source: UniProtKB |
| Cellular component | calcium channel complex Inferred from direct assay. Source: BHF-UCL sarcoplasmic reticulumInferred from direct assay Ref.6. Source: UniProtKB |
| Molecular function | receptor binding Inferred from physical interaction. Source: BHF-UCL |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2319 | 2319 | A-kinase anchor protein 6 | PRO_0000064530 | |||||
Regions | |||||||||
| Repeat | 762 – 848 | 87 | Spectrin 1 | ||||||
| Repeat | 1036 – 1150 | 115 | Spectrin 2 | ||||||
| Region | 2063 – 2076 | 14 | PKA-RII subunit binding domain | ||||||
| Compositional bias | 1560 – 1701 | 142 | Ser-rich | ||||||
Natural variations | |||||||||
| Natural variant | 337 | 1 | A → V. Corresponds to variant rs3742926 [ dbSNP | Ensembl ]. | VAR_028171 | |||||
| Natural variant | 408 | 1 | N → S. Corresponds to variant rs17099240 [ dbSNP | Ensembl ]. | VAR_028172 | |||||
| Natural variant | 558 | 1 | N → D. Corresponds to variant rs35210906 [ dbSNP | Ensembl ]. | VAR_050653 | |||||
| Natural variant | 892 | 1 | E → K. Corresponds to variant rs34572259 [ dbSNP | Ensembl ]. | VAR_050654 | |||||
| Natural variant | 910 | 1 | K → M in a breast cancer sample; somatic mutation. Ref.7 | VAR_035781 | |||||
| Natural variant | 1192 | 1 | M → I in a breast cancer sample; somatic mutation. Ref.7 | VAR_035782 | |||||
| Natural variant | 1492 | 1 | A → V. Ref.1 Corresponds to variant rs11845640 [ dbSNP | Ensembl ]. | VAR_028173 | |||||
| Natural variant | 1516 | 1 | T → A. Corresponds to variant rs17099587 [ dbSNP | Ensembl ]. | VAR_050655 | |||||
| Natural variant | 1522 | 1 | V → I. Corresponds to variant rs34711402 [ dbSNP | Ensembl ]. | VAR_050656 | |||||
| Natural variant | 1702 | 1 | E → Q in a breast cancer sample; somatic mutation. Ref.7 | VAR_035783 | |||||
| Natural variant | 1839 | 1 | P → T in a colorectal cancer sample; somatic mutation. Ref.7 | VAR_035784 | |||||
| Natural variant | 2035 | 1 | N → D. Corresponds to variant rs1051695 [ dbSNP | Ensembl ]. | VAR_028174 | |||||
| Natural variant | 2171 | 1 | F → Y. Corresponds to variant rs4647899 [ dbSNP | Ensembl ]. | VAR_028175 | |||||
| Natural variant | 2209 | 1 | D → H. Corresponds to variant rs4402458 [ dbSNP | Ensembl ]. | VAR_028176 | |||||
| Natural variant | 2267 | 1 | E → D. Corresponds to variant rs35977369 [ dbSNP | Ensembl ]. | VAR_050657 | |||||
Experimental info | |||||||||
| Sequence conflict | 974 | 1 | W → C in AAA92354. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "mAKAP: an A-kinase anchoring protein targeted to the nuclear membrane of differentiated myocytes." Kapiloff M.S., Shillace R.V., Westphal A.M., Scott J.D. J. Cell Sci. 112:2725-2736(1999) [PubMed: 10413680] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-1492. |
| [2] | "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed: 9205841] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [3] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [6] | "Cloning and characterization of A-kinase anchor protein 100 (AKAP100). A protein that targets A-kinase to the sarcoplasmic reticulum." McCartney S., Little B.M., Langeberg L.K., Scott J.D. J. Biol. Chem. 270:9327-9333(1995) [PubMed: 7721854] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1666-2319. Tissue: Hippocampus. |
| [7] | "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] MET-910; ILE-1192; GLN-1702 AND THR-1839. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U17195 mRNA. Translation: AAA92354.2. AB002309 mRNA. Translation: BAA20770.2. Different initiation. CH471078 Genomic DNA. Translation: EAW65931.1. BC150288 mRNA. Translation: AAI50289.1. |
| IPI | IPI00297089. |
| RefSeq | NP_004265.3. NM_004274.4. |
| UniGene | Hs.509083. |
3D structure databases | |
| ProteinModelPortal | Q13023. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q13023. 9 interactions. |
| STRING | Q13023. |
PTM databases | |
| PhosphoSite | Q13023. |
Polymorphism databases | |
| DMDM | 116241243. |
Proteomic databases | |
| PRIDE | Q13023. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000280979; ENSP00000280979; ENSG00000151320. |
| GeneID | 9472. |
| KEGG | hsa:9472. |
| UCSC | uc001wrq.1. human. |
Organism-specific databases | |
| CTD | 9472. |
| GeneCards | GC14P032798. |
| H-InvDB | HIX0011586. |
| HGNC | HGNC:376. AKAP6. |
| HPA | CAB001983. |
| MIM | 604691. gene. |
| neXtProt | NX_Q13023. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG10104. |
| GeneTree | ENSGT00390000011117. |
| HOGENOM | HBG282315. |
| HOVERGEN | HBG050480. |
| InParanoid | Q13023. |
| OMA | ADMENGN. |
| OrthoDB | EOG49ZXNB. |
| PhylomeDB | Q13023. |
Gene expression databases | |
| ArrayExpress | Q13023. |
| Bgee | Q13023. |
| CleanEx | HS_AKAP6. |
| Genevestigator | Q13023. |
Family and domain databases | |
| InterPro | IPR018159. Spectrin/alpha-actinin. [Graphical view] |
| SMART | SM00150. SPEC. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 35494. |
| SOURCE | Search... |
Entry information
| Entry name | AKAP6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13023 Secondary accession number(s): A7E2D4, O15028 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| 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 14 Human chromosome 14: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with