Q02952 (AKA12_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 120.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: A-kinase anchor protein 12 Short name=AKAP-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) [Reference 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 | 1782 AA. |
| Sequence status | Complete. |
| 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 cortex Probable. Cytoplasm › cytoskeleton Probable. 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. |
| Miscellaneous | Antibodies against the C-terminal of gravin can be produced by patients with myasthenia gravis (MG). |
| Sequence similarities | Contains 3 AKAP domains. |
| Sequence caution | The sequence BAE06085.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| EGFR | P00533 | 2 | EBI-2562430,EBI-297353 |
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 | 75 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 96 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 219 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 371 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 374 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 381 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 483 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 505 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 557 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 598 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 612 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 627 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 629 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 645 | 1 | Phosphoserine Ref.14 | ||||||
| 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 | 1331 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 1395 | 1 | Phosphoserine Ref.11 | ||||||
| Modified residue | 1587 | 1 | Phosphoserine Ref.14 | ||||||
| Lipidation | 2 | 1 | N-myristoyl glycine Ref.12 | ||||||
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 | K → E. Ref.1 Ref.3 Ref.6 Corresponds to variant rs10872670 [ dbSNP | Ensembl ]. | VAR_035115 | |||||
| Natural variant | 216 | 1 | K → Q. Ref.1 Ref.3 Ref.4 Ref.6 Corresponds to variant rs3734799 [ dbSNP | Ensembl ]. | VAR_035116 | |||||
| Natural variant | 240 | 1 | E → K in a colorectal cancer sample; somatic mutation. Ref.15 | VAR_035780 | |||||
| Natural variant | 920 | 1 | E → G. Ref.4 Corresponds to variant rs13212161 [ dbSNP | Ensembl ]. | VAR_035117 | |||||
| Natural variant | 987 | 1 | A → S. Ref.1 Corresponds to variant rs1042069 [ dbSNP | Ensembl ]. | VAR_056731 | |||||
| Natural variant | 1096 | 1 | V → I. Corresponds to variant rs3734797 [ dbSNP | Ensembl ]. | VAR_035118 | |||||
| Natural variant | 1296 | 1 | R → L. Corresponds to variant rs9478198 [ dbSNP | Ensembl ]. | VAR_035119 | |||||
| Natural variant | 1355 | 1 | E → K. Ref.4 Corresponds to variant rs12201388 [ dbSNP | Ensembl ]. | VAR_035120 | |||||
| Natural variant | 1600 | 1 | E → D. Ref.3 Corresponds to variant rs3823310 [ dbSNP | Ensembl ]. | VAR_035121 | |||||
| Natural variant | 1689 | 1 | E → D. Corresponds to variant rs3734795 [ dbSNP | Ensembl ]. | VAR_035122 | |||||
Experimental info | |||||||||
| Sequence conflict | 142 – 145 | 4 | TPEI → NRN in AAC51366. Ref.1 | ||||||
| Sequence conflict | 423 | 1 | T → I in BAE06085. Ref.3 | ||||||
| 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.4 | ||||||
| Sequence conflict | 1182 | 1 | A → T in CAH18338. Ref.4 | ||||||
| Sequence conflict | 1531 | 1 | E → EE in CAH18338. Ref.4 | ||||||
| Sequence conflict | 1531 | 1 | E → EE in BAE06085. Ref.3 | ||||||
| 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.4 | ||||||
| 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLU-117; GLN-216 AND SER-987. 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Umbilical vein endothelial cell. |
| [3] | "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 GLU-117; GLN-216 AND ASP-1600. Tissue: Brain. |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS GLN-216; GLY-920 AND LYS-1355. Tissue: Testis. |
| [5] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "Sequence of gravin cDNA isolated from a human umbilical vein endothelial cell library." Bowditch R.D., Ginsberg M.H. Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 43-1782, VARIANTS GLU-117 AND GLN-216. Tissue: Umbilical vein endothelial cell. |
| [7] | "Molecular cloning and preliminary characterization of a novel cytoplasmic antigen recognized by myasthenia gravis sera." Gordon T., Grove B., Loftus J.C., O'Toole T., McMillan R., Lindstrom J., Ginsberg M.H. J. Clin. Invest. 90:992-999(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1478-1782. Tissue: Umbilical vein endothelial cell. |
| [8] | "Multiple promoters direct expression of three AKAP12 isoforms with distinct subcellular and tissue distribution profiles." Streb J.W., Kitchen C.M., Gelman I.H., Miano J.M. J. Biol. Chem. 279:56014-56023(2004) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING. |
| [9] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-219, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-505, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [11] | "Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1395, MASS SPECTROMETRY. |
| [12] | "Strategy for comprehensive identification of human N-myristoylated proteins using an insect cell-free protein synthesis system." Suzuki T., Moriya K., Nagatoshi K., Ota Y., Ezure T., Ando E., Tsunasawa S., Utsumi T. Proteomics 10:1780-1793(2010) [PubMed] [Europe PMC] [Abstract] Cited for: MYRISTOYLATION AT GLY-2. |
| [13] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [14] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75; SER-96; SER-371; SER-381; SER-483; SER-557; SER-598; SER-612; SER-627; SER-645; SER-1331 AND SER-1587, MASS SPECTROMETRY. |
| [15] | "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] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-240. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U81607 mRNA. Translation: AAC51366.1. AB003476 mRNA. Translation: BAA19927.1. AB210003 mRNA. Translation: BAE06085.1. Different initiation. CR749527 mRNA. Translation: CAH18338.1. AL590413, AL033392, AL356535 Genomic DNA. Translation: CAI13590.1. AL356535, AL033392, AL590413 Genomic DNA. Translation: CAI16151.1. AL033392, AL356535, AL590413 Genomic DNA. Translation: CAI20467.1. AL590413, AL033392 Genomic DNA. Translation: CAI13591.1. AL033392, AL590413 Genomic DNA. Translation: CAI20468.1. AF001504 mRNA. Translation: AAB58938.1. M96322 mRNA. Translation: AAA35931.1. |
| IPI | IPI00237884. IPI00867627. IPI00940222. |
| PIR | A43922. JW0057. |
| RefSeq | NP_005091.2. NM_005100.3. NP_653080.1. NM_144497.2. |
| UniGene | Hs.371240. |
3D structure databases | |
| ProteinModelPortal | Q02952. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q02952. 5 interactions. |
| MINT | MINT-2411728. |
| STRING | 9606.ENSP00000253332. |
PTM databases | |
| PhosphoSite | Q02952. |
Polymorphism databases | |
| DMDM | 158931155. |
Proteomic databases | |
| PaxDb | Q02952. |
| PRIDE | Q02952. |
Protocols and materials databases | |
| DNASU | 9590. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000253332; ENSP00000253332; ENSG00000131016. ENST00000354675; ENSP00000346702; ENSG00000131016. ENST00000359755; ENSP00000352794; ENSG00000131016. ENST00000402676; ENSP00000384537; ENSG00000131016. |
| GeneID | 9590. |
| KEGG | hsa:9590. |
| UCSC | uc003qoe.3. human. uc003qof.3. human. uc003qog.3. human. |
Organism-specific databases | |
| CTD | 9590. |
| GeneCards | GC06P151561. |
| H-InvDB | HIX0025002. |
| HGNC | HGNC:370. AKAP12. |
| HPA | HPA006344. |
| MIM | 604698. gene. |
| neXtProt | NX_Q02952. |
| PharmGKB | PA24664. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| HOVERGEN | HBG050472. |
| InParanoid | Q02952. |
| KO | K16528. |
| OMA | EQAGSPT. |
| OrthoDB | EOG408N80. |
| PhylomeDB | Q02952. |
Gene expression databases | |
| Bgee | Q02952. |
| CleanEx | HS_AKAP12. |
| Genevestigator | Q02952. |
| GermOnline | ENSG00000131016. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001573. Pkinase-A_anch_WSK-motif. IPR018459. RII_binding_1. [Graphical view] |
| Pfam | PF10522. RII_binding_1. 1 hit. PF03832. WSK. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | AKAP12. human. |
| GenomeRNAi | 9590. |
| NextBio | 35991. |
| SOURCE | Search... |
Entry information
| Entry name | AKA12_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q02952 Secondary accession number(s): O00310 Q99970 | ||||||||
| Entry history |
| ||||||||
| 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 6 Human chromosome 6: 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
