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UniProtKB/Swiss-Prot Q02952 (AKA12_HUMAN)
Last modified
November 25, 2008.
Version 73.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
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Names and origin
| Protein names | Recommended name: A-kinase anchor protein 12 Alternative name(s): A-kinase anchor protein 250 kDa Short name=AKAP 250 Gravin Myasthenia gravis autoantigen | ||||
| 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 | 1782 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC). |
| Subunit structure | Binds to dimeric RII-alpha regulatory subunit of PKC. |
| Subcellular location | Cytoplasm › cell cortexProbable. Cytoplasm › cytoskeletonProbable. Note= May be part of the cortical cytoskeleton. |
| Tissue specificity | Expressed in endothelial cells, cultured fibroblasts and osteosarcoma, but not in platelets, leukocytes, monocytic cell lines or peripherical blood cells. |
| Induction | Activated by lysophosphatidylcholine (lysoPC). |
| Domain | Polybasic regions located between residues 266 and 557 are involved in binding PKC. |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. |
| Involvement in disease | Antibodies to the C-terminal of gravin can be produced by patients with myasthenia gravis (MG). |
| Sequence similarities | Contains 3 AKAP domains. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
| PTM | Phosphoprotein |
Gene Ontology (GO) | |
| Biological process | G-protein coupled receptor protein signaling pathway Traceable author statement. Source: ProtInc protein targetingInferred from electronic annotation. Source: InterPro |
| Cellular component | cytoplasm Traceable author statement. Source: ProtInc cytoskeletonInferred from electronic annotation. Source: UniProtKB-KW nucleusInferred from direct assay. Source: HPA plasma membraneInferred from direct assay. Source: HPA |
| Molecular function | protein kinase A binding Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q02952-1) Also known as: Alpha; 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: Q02952-2) Also known as: Beta; The sequence of this isoform differs from the canonical sequence as follows: 1-98: Missing. 99-106: EEEVIVTE → MLGTITIT | ||||||
| Isoform 3 (identifier: Q02952-3) Also known as: Gamma; The sequence of this isoform differs from the canonical sequence as follows: 1-105: Missing. 106-106: E → M |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1782 | 1782 | A-kinase anchor protein 12 | PRO_0000064519 | |||||
Regions | |||||||||
| Domain | 604 – 634 | 31 | AKAP 1 | ||||||
| Domain | 753 – 783 | 31 | AKAP 2 | ||||||
| Domain | 798 – 828 | 31 | AKAP 3 | ||||||
| Region | 266 – 557 | 292 | Involved in PKC-binding Probable | ||||||
| Region | 1541 – 1554 | 14 | RII-binding Probable | ||||||
| Compositional bias | 98 – 101 | 4 | Poly-Glu | ||||||
Amino acid modifications | |||||||||
| Modified residue | 19 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 219 | 1 | Phosphoserine | ||||||
| Modified residue | 253 | 1 | Phosphoserine | ||||||
| Modified residue | 283 | 1 | Phosphoserine | ||||||
| Modified residue | 286 | 1 | Phosphoserine | ||||||
| Modified residue | 312 | 1 | Phosphoserine | ||||||
| Modified residue | 388 | 1 | Phosphoserine | ||||||
| Modified residue | 483 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 505 | 1 | Phosphoserine | ||||||
| Modified residue | 565 | 1 | Phosphoserine | ||||||
| Modified residue | 566 | 1 | Phosphoserine | ||||||
| Modified residue | 568 | 1 | Phosphoserine | ||||||
| Modified residue | 569 | 1 | Phosphoserine | ||||||
| Modified residue | 598 | 1 | Phosphoserine | ||||||
| Modified residue | 612 | 1 | Phosphoserine | ||||||
| Modified residue | 627 | 1 | Phosphoserine | ||||||
| Modified residue | 629 | 1 | Phosphoserine | ||||||
| Modified residue | 645 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 646 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 648 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 696 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 697 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 698 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 732 | 1 | Phosphoserine | ||||||
| Modified residue | 887 | 1 | Phosphoserine | ||||||
| Modified residue | 1331 | 1 | Phosphoserine | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 105 | 105 | Missing in isoform 3. | VSP_028133 | |||||
| Alternative sequence | 1 – 98 | 98 | Missing in isoform 2. | VSP_004110 | |||||
| Alternative sequence | 99 – 106 | 8 | EEEVIVTE → MLGTITIT in isoform 2. | VSP_004111 | |||||
| Alternative sequence | 106 | 1 | E → M in isoform 3. | VSP_028134 | |||||
| Natural variant | 117 | 1 | E → K: dbSNP rs10872670. | VAR_035115 | |||||
| Natural variant | 216 | 1 | K → Q: dbSNP rs3734799. | VAR_035116 | |||||
| Natural variant | 240 | 1 | E → K in a colorectal cancer sample; somatic mutation. | VAR_035780 | |||||
| Natural variant | 920 | 1 | E → G: dbSNP rs13212161. | VAR_035117 | |||||
| Natural variant | 1096 | 1 | V → I: dbSNP rs3734797. | VAR_035118 | |||||
| Natural variant | 1296 | 1 | R → L: dbSNP rs9478198. | VAR_035119 | |||||
| Natural variant | 1355 | 1 | E → K: dbSNP rs12201388. | VAR_035120 | |||||
| Natural variant | 1600 | 1 | E → D: dbSNP rs3823310. | VAR_035121 | |||||
| Natural variant | 1689 | 1 | E → D: dbSNP rs3734795. | VAR_035122 | |||||
Experimental info | |||||||||
| Sequence conflict | 142 – 145 | 4 | TPEI → NRN in AAC51366. Ref.1 | ||||||
| Sequence conflict | 423 | 1 | T → I in BAE06085. Ref.4 | ||||||
| Sequence conflict | 449 | 1 | E → G in AAC51366. Ref.1 | ||||||
| Sequence conflict | 695 | 1 | G → R in AAC51366. Ref.1 | ||||||
| Sequence conflict | 868 | 1 | S → G in AAC51366. Ref.1 | ||||||
| Sequence conflict | 946 | 1 | E → G in CAH18338. Ref.3 | ||||||
| Sequence conflict | 987 | 1 | A → S in AAC51366. Ref.1 | ||||||
| Sequence conflict | 1182 | 1 | A → T in CAH18338. Ref.3 | ||||||
| Sequence conflict | 1531 | 1 | E → EE in CAH18338. Ref.3 | ||||||
| Sequence conflict | 1531 | 1 | E → EE in BAE06085. Ref.4 | ||||||
| Sequence conflict | 1531 | 1 | E → EE in AAB58938. Ref.6 | ||||||
| Sequence conflict | 1531 | 1 | E → EE in AAA35931. Ref.7 | ||||||
| Sequence conflict | 1582 | 1 | V → M in CAH18338. Ref.3 | ||||||
| Sequence conflict | 1582 | 1 | V → M in AAA35931. Ref.7 | ||||||
| Sequence conflict | 1602 | 1 | Q → L in BAA19927. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Gravin, an autoantigen recognized by serum from myasthenia gravis patients, is a kinase scaffold protein." Nauert J.B., Klauck T.M., Langeberg L.K., Scott J.D. Curr. Biol. 7:52-62(1997) [PubMed: 9000000] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLN-216. Tissue: Heart. |
| [2] | "Changes of gene expression by lysophosphatidylcholine in vascular endothelial cells: 12 up-regulated distinct genes including 5 cell growth-related, 3 thrombosis-related, and 4 others." Sato N., Kokame K., Shimokado K., Kato H., Miyata T. J. Biochem. 123:1119-1126(1998) [PubMed: 9604001] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT LYS-117. Tissue: Umbilical vein endothelial cell. |
| [3] | The German cDNA consortium Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS GLN-216; GLY-920 AND LYS-1355. Tissue: Testis. |
| [4] | "Preparation of a set of expression-ready clones of mammalian long cDNAs encoding large proteins by the ORF trap cloning method." Nakajima D., Saito K., Yamakawa H., Kikuno R.F., Nakayama M., Ohara R., Okazaki N., Koga H., Nagase T., Ohara O. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS GLN-216 AND ASP-1600. Tissue: Brain. |
| [5] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., |

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