ID AKAP6_HUMAN Reviewed; 2319 AA. AC Q13023; A7E2D4; O15028; DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot. DT 17-OCT-2006, sequence version 3. DT 25-JAN-2012, entry version 99. DE RecName: Full=A-kinase anchor protein 6; DE Short=AKAP-6; DE AltName: Full=A-kinase anchor protein 100 kDa; DE Short=AKAP 100; DE AltName: Full=Protein kinase A-anchoring protein 6; DE Short=PRKA6; DE AltName: Full=mAKAP; GN Name=AKAP6; Synonyms=AKAP100, KIAA0311; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT VAL-1492. RX MEDLINE=99343692; PubMed=10413680; RA Kapiloff M.S., Shillace R.V., Westphal A.M., Scott J.D.; RT "mAKAP: an A-kinase anchoring protein targeted to the nuclear membrane RT of differentiated myocytes."; RL J. Cell Sci. 112:2725-2736(1999). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain; RX MEDLINE=97349984; PubMed=9205841; DOI=10.1093/dnares/4.2.141; RA Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., RA Tanaka A., Kotani H., Nomura N., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. VII. RT The complete sequences of 100 new cDNA clones from brain which can RT code for large proteins in vitro."; RL DNA Res. 4:141-150(1997). RN [3] RP SEQUENCE REVISION. RX MEDLINE=22158633; PubMed=12168954; DOI=10.1093/dnares/9.3.99; RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.; RT "Construction of expression-ready cDNA clones for KIAA genes: manual RT curation of 330 KIAA cDNA clones."; RL DNA Res. 9:99-106(2002). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP NUCLEOTIDE SEQUENCE [MRNA] OF 1666-2319. RC TISSUE=Hippocampus; RX MEDLINE=95238446; PubMed=7721854; DOI=10.1074/jbc.270.16.9327; RA McCartney S., Little B.M., Langeberg L.K., Scott J.D.; RT "Cloning and characterization of A-kinase anchor protein 100 RT (AKAP100). A protein that targets A-kinase to the sarcoplasmic RT reticulum."; RL J. Biol. Chem. 270:9327-9333(1995). RN [7] RP VARIANTS [LARGE SCALE ANALYSIS] MET-910; ILE-1192; GLN-1702 AND RP THR-1839. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., RA Vogelstein B., Kinzler K.W., Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal RT cancers."; RL Science 314:268-274(2006). CC -!- FUNCTION: Binds to type II regulatory subunits of protein kinase A CC and anchors/targets them to the nuclear membrane or sarcoplasmic CC reticulum. May act as an adapter for assembling multiprotein CC complexes. CC -!- SUBUNIT: Interacts with RII subunit of PKA, phosphatase 2B CC (calcineurin) and AKAP79. CC -!- SUBCELLULAR LOCATION: Sarcoplasmic reticulum. Nucleus membrane. CC Note=In heart muscle. Participation of multiple targeting signals CC allow correct intracellular targeting. These may be repeated CC motifs rich in basic and hydrophobic amino acids, CC palmitoylated/myristoylated motifs or alternatively splice CC targeting sequences. CC -!- TISSUE SPECIFICITY: Highly expressed in cardiac and skeletal CC muscle, followed by brain. CC -!- DOMAIN: RII-alpha binding site, predicted to form an amphipathic CC helix, could participate in protein-protein interactions with a CC complementary surface on the R-subunit dimer. CC -!- SIMILARITY: Contains 2 spectrin repeats. CC -!- SEQUENCE CAUTION: CC Sequence=BAA20770.2; Type=Erroneous initiation; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; U17195; AAA92354.2; -; mRNA. DR EMBL; AB002309; BAA20770.2; ALT_INIT; mRNA. DR EMBL; CH471078; EAW65931.1; -; Genomic_DNA. DR EMBL; BC150288; AAI50289.1; -; mRNA. DR IPI; IPI00297089; -. DR RefSeq; NP_004265.3; NM_004274.4. DR UniGene; Hs.509083; -. DR ProteinModelPortal; Q13023; -. DR IntAct; Q13023; 9. DR STRING; Q13023; -. DR PhosphoSite; Q13023; -. DR DMDM; 116241243; -. DR PRIDE; Q13023; -. DR Ensembl; ENST00000280979; ENSP00000280979; ENSG00000151320. DR GeneID; 9472; -. DR KEGG; hsa:9472; -. DR UCSC; uc001wrq.1; human. DR CTD; 9472; -. DR GeneCards; GC14P032798; -. DR H-InvDB; HIX0011586; -. DR HGNC; HGNC:376; AKAP6. DR HPA; CAB001983; -. DR MIM; 604691; gene. DR neXtProt; NX_Q13023; -. DR eggNOG; prNOG10104; -. DR GeneTree; ENSGT00390000011117; -. DR HOGENOM; HBG282315; -. DR HOVERGEN; HBG050480; -. DR InParanoid; Q13023; -. DR OMA; ADMENGN; -. DR OrthoDB; EOG49ZXNB; -. DR PhylomeDB; Q13023; -. DR NextBio; 35494; -. DR ArrayExpress; Q13023; -. DR Bgee; Q13023; -. DR CleanEx; HS_AKAP6; -. DR Genevestigator; Q13023; -. DR GO; GO:0034704; C:calcium channel complex; IDA:BHF-UCL. DR GO; GO:0016529; C:sarcoplasmic reticulum; IDA:UniProtKB. DR GO; GO:0005102; F:receptor binding; IPI:BHF-UCL. DR GO; GO:0006605; P:protein targeting; NAS:UniProtKB. DR InterPro; IPR018159; Spectrin/alpha-actinin. DR SMART; SM00150; SPEC; 3. PE 1: Evidence at protein level; KW Complete proteome; Membrane; Nucleus; Polymorphism; KW Reference proteome; Repeat; Sarcoplasmic reticulum. FT CHAIN 1 2319 A-kinase anchor protein 6. FT /FTId=PRO_0000064530. FT REPEAT 762 848 Spectrin 1. FT REPEAT 1036 1150 Spectrin 2. FT REGION 2063 2076 PKA-RII subunit binding domain. FT COMPBIAS 1560 1701 Ser-rich. FT VARIANT 337 337 A -> V (in dbSNP:rs3742926). FT /FTId=VAR_028171. FT VARIANT 408 408 N -> S (in dbSNP:rs17099240). FT /FTId=VAR_028172. FT VARIANT 558 558 N -> D (in dbSNP:rs35210906). FT /FTId=VAR_050653. FT VARIANT 892 892 E -> K (in dbSNP:rs34572259). FT /FTId=VAR_050654. FT VARIANT 910 910 K -> M (in a breast cancer sample; FT somatic mutation). FT /FTId=VAR_035781. FT VARIANT 1192 1192 M -> I (in a breast cancer sample; FT somatic mutation). FT /FTId=VAR_035782. FT VARIANT 1492 1492 A -> V (in dbSNP:rs11845640). FT /FTId=VAR_028173. FT VARIANT 1516 1516 T -> A (in dbSNP:rs17099587). FT /FTId=VAR_050655. FT VARIANT 1522 1522 V -> I (in dbSNP:rs34711402). FT /FTId=VAR_050656. FT VARIANT 1702 1702 E -> Q (in a breast cancer sample; FT somatic mutation). FT /FTId=VAR_035783. FT VARIANT 1839 1839 P -> T (in a colorectal cancer sample; FT somatic mutation). FT /FTId=VAR_035784. FT VARIANT 2035 2035 N -> D (in dbSNP:rs1051695). FT /FTId=VAR_028174. FT VARIANT 2171 2171 F -> Y (in dbSNP:rs4647899). FT /FTId=VAR_028175. FT VARIANT 2209 2209 D -> H (in dbSNP:rs4402458). FT /FTId=VAR_028176. FT VARIANT 2267 2267 E -> D (in dbSNP:rs35977369). FT /FTId=VAR_050657. FT CONFLICT 974 974 W -> C (in Ref. 1; AAA92354). SQ SEQUENCE 2319 AA; 256720 MW; 7607B71AD2140727 CRC64; MLTMSVTLSP LRSQDLDPMA TDASPMAINM TPTVEQGEGE EAMKDMDSDQ QYEKPPPLHT GADWKIVLHL PEIETWLRMT SERVRDLTYS VQQDSDSKHV DVHLVQLKDI CEDISDHVEQ IHALLETEFS LKLLSYSVNV IVDIHAVQLL WHQLRVSVLV LRERILQGLQ DANGNYTRQT DILQAFSEET KEGRLDSLTE VDDSGQLTIK CSQNYLSLDC GITAFELSDY SPSEDLLSGL GDMTSSQVKT KPFDSWSYSE MEKEFPELIR SVGLLTVAAD SISTNGSEAV TEEVSQVSLS VDDKGGCEED NASAVEEQPG LTLGVSSSSG EALTNAAQPS SETVQQESSS SSHHDAKNQQ PVPCENATPK RTIRDCFNYN EDSPTQPTLP KRGLFLKEET FKNDLKGNGG KRQMVDLKPE MSRSTPSLVD PPDRSKLCLV LQSSYPNSPS AASQSYECLH KVGNGNLENT VKFHIKEISS SLGRLNDCYK EKSRLKKPHK TSEEVPPCRT PKRGTGSGKQ AKNTKSSAVP NGELSYTSKA IEGPQTNSAS TSSLEPCNQR SWNAKLQLQS ETSSSPAFTQ SSESSVGSDN IMSPVPLLSK HKSKKGQASS PSHVTRNGEV VEAWYGSDEY LALPSHLKQT EVLALKLENL TKLLPQKPRG ETIQNIDDWE LSEMNSDSEI YPTYHVKKKH TRLGRVSPSS SSDIASSLGE SIESGPLSDI LSDEESSMPL AGMKKYADEK SERASSSEKN ESHSATKSAL IQKLMQDIQH QDNYEAIWEK IEGFVNKLDE FIQWLNEAME TTENWTPPKA EMDDLKLYLE THLSFKLNVD SHCALKEAVE EEGHQLLELI ASHKAGLKDM LRMIASQWKE LQRQIKRQHS WILRALDTIK AEILATDVSV EDEEGTGSPK AEVQLCYLEA QRDAVEQMSL KLYSEQYTSS SKRKEEFADM SKVHSVGSNG LLDFDSEYQE LWDWLIDMES LVMDSHDLMM SEEQQQHLYK RYSVEMSIRH LKKTELLSKV EALKKGGVLL PNDLLEKVDS INEKWELLGK TLGEKIQDTM AGHSGSSPRD LLSPESGSLV RQLEVRIKEL KGWLRDTELF IFNSCLRQEK EGTMNTEKQL QYFKSLCREI KQRRRGVASI LRLCQHLLDD RETCNLNADH QPMQLIIVNL ERRWEAIVMQ AVQWQTRLQK KMGKESETLN VIDPGLMDLN GMSEDALEWD EMDISNKLIS LNEESNDLDQ ELQPVIPSLK LGETSNEDPG YDEEADNHGG SQYASNITAP SSPHIYQVYS LHNVELYEDN HMPFLKNNPK VTGMTQPNVL TKSLSKDSSF SSTKSLPDLL GGSNLVKPCA CHGGDMSQNS GSESGIVSEG DTETTTNSEM CLLNAVDGSP SNLETEHLDP QMGDAVNVLK QKFTDEGESI KLPNSSQSSI SPVGCVNGKV GDLNSITKHT PDCLGEELQG KHDVFTFYDY SYLQGSKLKL PMIMKQSQSE KAHVEDPLLR GFYFDKKSCK SKHQTTELQP DVPPHERILA SASHEMDRIS YKSGNIEKTF TGMQNAKQLS LLSHSSSIES LSPGGDLFGL GIFKNGSDSL QRSTSLESWL TSYKSNEDLF SCHSSGDISV SSGSVGELSK RTLDLLNRLE NIQSPSEQKI KRSVSDITLQ SSSQKMSFTG QMSLDIASSI NEDSAASLTE LSSSDELSLC SEDIVLHKNK IPESNASFRK RLTRSVADES DVNVSMIVNV SCTSACTDDE DDSDLLSSST LTLTEEELCI KDEDDDSSIA TDDEIYEDCT LMSGLDYIKN ELQTWIRPKL SLTRDKKRCN VSDEMKGSKD ISSSEMTNPS DTLNIETLLN GSVKRVSENN GNGKNSSHTH ELGTKRENKK TIFKVNKDPY VADMENGNIE GIPERQKGKP NVTSKVSENL GSHGKEISES EHCKCKALMD SLDDSNTAGK EFVSQDVRHL PKKCPNHHHF ENQSTASTPT EKSFSELALE TRFNNRQDSD ALKSSDDAPS MAGKSAGCCL ALEQNGTEEN ASISNISCCN CEPDVFHQKD AEDCSVHNFV KEIIDMASTA LKSKSQPENE VAAPTSLTQI KEKVLEHSHR PIQLRKGDFY SYLSLSSHDS DCGEVTNYIE EKSSTPLPLD TTDSGLDDKE DIECFFEACV EGDSDGEEPC FSSAPPNESA VPSEAAMPLQ ATACSSEFSD SSLSADDADT VALSSPSSQE RAEVGKEVNG LPQTSSGCAE NLEFTPSKLD SEKESSGKPG ESGMPEEHNA ASAKSKVQDL SLKANQPTDK AALHPSPKTL TCEENLLNLH EKRHRNMHR //