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Q99996

- AKAP9_HUMAN

UniProt

Q99996 - AKAP9_HUMAN

Protein

A-kinase anchor protein 9

Gene

AKAP9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 3 (01 Aug 1999)
      Previous versions | rss
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    Functioni

    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.1 Publication

    GO - Molecular functioni

    1. ion channel binding Source: BHF-UCL
    2. protein binding Source: UniProtKB
    3. protein complex scaffold Source: BHF-UCL
    4. receptor binding Source: ProtInc

    GO - Biological processi

    1. G2/M transition of mitotic cell cycle Source: Reactome
    2. mitotic cell cycle Source: Reactome
    3. signal transduction Source: ProtInc
    4. synaptic transmission Source: Reactome
    5. transport Source: ProtInc

    Enzyme and pathway databases

    ReactomeiREACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.
    REACT_20546. Ras activation uopn Ca2+ infux through NMDA receptor.
    REACT_20594. Unblocking of NMDA receptor, glutamate binding and activation.
    REACT_20642. CREB phosphorylation through the activation of CaMKII.
    SignaLinkiQ99996.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    A-kinase anchor protein 9
    Short name:
    AKAP-9
    Alternative name(s):
    A-kinase anchor protein 350 kDa
    Short name:
    AKAP 350
    Short name:
    hgAKAP 350
    A-kinase anchor protein 450 kDa
    Short name:
    AKAP 450
    AKAP 120-like protein
    Centrosome- and Golgi-localized PKN-associated protein
    Short name:
    CG-NAP
    Protein hyperion
    Protein kinase A-anchoring protein 9
    Short name:
    PRKA9
    Protein yotiao
    Gene namesi
    Name:AKAP9
    Synonyms:AKAP350, AKAP450, KIAA0803
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:379. AKAP9.

    Subcellular locationi

    GO - Cellular componenti

    1. centrosome Source: UniProtKB
    2. cytoskeleton Source: ProtInc
    3. cytosol Source: Reactome
    4. Golgi apparatus Source: UniProtKB
    5. intracellular membrane-bounded organelle Source: HPA
    6. pericentriolar material Source: Ensembl
    7. voltage-gated potassium channel complex Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Golgi apparatus

    Pathology & Biotechi

    Involvement in diseasei

    Long QT syndrome 11 (LQT11) [MIM:611820]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1582 – 15821S → L in LQT11. 1 Publication
    VAR_043489

    Keywords - Diseasei

    Disease mutation, Long QT syndrome

    Organism-specific databases

    MIMi611820. phenotype.
    Orphaneti101016. Romano-Ward syndrome.
    PharmGKBiPA24673.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 39113911A-kinase anchor protein 9PRO_0000064534Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei165 – 1651Phosphoserine1 Publication
    Modified residuei3846 – 38461Phosphoserine1 Publication
    Modified residuei3869 – 38691Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ99996.
    PaxDbiQ99996.
    PRIDEiQ99996.

    PTM databases

    PhosphoSiteiQ99996.

    Expressioni

    Tissue specificityi

    Widely expressed. Isoform 4 is highly expressed in skeletal muscle and in pancreas.

    Gene expression databases

    ArrayExpressiQ99996.
    BgeeiQ99996.
    GenevestigatoriQ99996.

    Organism-specific databases

    HPAiCAB012909.
    HPA008548.
    HPA026109.

    Interactioni

    Subunit structurei

    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. Interacts with chloride intracellular channel proteins CLIC1, CLIC4 and CLIC5. CSNK1D binding promotes its centrosomal subcellular location.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    GOLGA2Q083793EBI-1048311,EBI-618309
    KDM1AO603412EBI-1048311,EBI-710124

    Protein-protein interaction databases

    BioGridi115445. 35 interactions.
    DIPiDIP-29942N.
    IntActiQ99996. 23 interactions.
    MINTiMINT-1174958.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99996.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2554 – 256714PKA-RII subunit binding domainAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili164 – 914751Sequence AnalysisAdd
    BLAST
    Coiled coili944 – 102279Sequence AnalysisAdd
    BLAST
    Coiled coili1100 – 118586Sequence AnalysisAdd
    BLAST
    Coiled coili1253 – 128028Sequence AnalysisAdd
    BLAST
    Coiled coili1336 – 139257Sequence AnalysisAdd
    BLAST
    Coiled coili1434 – 145926Sequence AnalysisAdd
    BLAST
    Coiled coili1585 – 165975Sequence AnalysisAdd
    BLAST
    Coiled coili1857 – 2455599Sequence AnalysisAdd
    BLAST
    Coiled coili2544 – 256118Sequence AnalysisAdd
    BLAST
    Coiled coili2603 – 2776174Sequence AnalysisAdd
    BLAST
    Coiled coili3065 – 309228Sequence AnalysisAdd
    BLAST
    Coiled coili3124 – 3470347Sequence AnalysisAdd
    BLAST
    Coiled coili3587 – 3689103Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi203 – 29290Gln-richAdd
    BLAST
    Compositional biasi321 – 1010690Glu-richAdd
    BLAST
    Compositional biasi1846 – 2772927Glu-richAdd
    BLAST
    Compositional biasi3726 – 37305Poly-Leu

    Domaini

    RII-binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG12793.
    HOVERGENiHBG050481.
    KOiK16551.
    OMAiKMRKFLD.
    OrthoDBiEOG7VMP46.
    PhylomeDBiQ99996.
    TreeFamiTF105408.

    Family and domain databases

    InterProiIPR028745. AKAP9.
    IPR019528. PACT_domain.
    [Graphical view]
    PANTHERiPTHR18932:SF10. PTHR18932:SF10. 1 hit.
    PfamiPF10495. PACT_coil_coil. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q99996-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MEDEERQKKL EAGKAKIEEL SLAFLVRQLA QFRQRKAQSD GQSPSKKQKK     50
    KRKTSSSKHD VSAHHDLNID QSQCNEMYIN SSQRVESTVI PESTIMRTLH 100
    SGEITSHEQG FSVELESEIS TTADDCSSEV NGCSFVMRTG KPTNLLREEE 150
    FGVDDSYSEQ GAQDSPTHLE MMESELAGKQ HEIEELNREL EEMRVTYGTE 200
    GLQQLQEFEA AIKQRDGIIT QLTANLQQAR REKDETMREF LELTEQSQKL 250
    QIQFQQLQAS ETLRNSTHSS TAADLLQAKQ QILTHQQQLE EQDHLLEDYQ 300
    KKKEDFTMQI SFLQEKIKVY EMEQDKKVEN SNKEEIQEKE TIIEELNTKI 350
    IEEEKKTLEL KDKLTTADKL LGELQEQIVQ KNQEIKNMKL ELTNSKQKER 400
    QSSEEIKQLM GTVEELQKRN HKDSQFETDI VQRMEQETQR KLEQLRAELD 450
    EMYGQQIVQM KQELIRQHMA QMEEMKTRHK GEMENALRSY SNITVNEDQI 500
    KLMNVAINEL NIKLQDTNSQ KEKLKEELGL ILEEKCALQR QLEDLVEELS 550
    FSREQIQRAR QTIAEQESKL NEAHKSLSTV EDLKAEIVSA SESRKELELK 600
    HEAEVTNYKI KLEMLEKEKN AVLDRMAESQ EAELERLRTQ LLFSHEEELS 650
    KLKEDLEIEH RINIEKLKDN LGIHYKQQID GLQNEMSQKI ETMQFEKDNL 700
    ITKQNQLILE ISKLKDLQQS LVNSKSEEMT LQINELQKEI EILRQEEKEK 750
    GTLEQEVQEL QLKTELLEKQ MKEKENDLQE KFAQLEAENS ILKDEKKTLE 800
    DMLKIHTPVS QEERLIFLDS IKSKSKDSVW EKEIEILIEE NEDLKQQCIQ 850
    LNEEIEKQRN TFSFAEKNFE VNYQELQEEY ACLLKVKDDL EDSKNKQELE 900
    YKSKLKALNE ELHLQRINPT TVKMKSSVFD EDKTFVAETL EMGEVVEKDT 950
    TELMEKLEVT KREKLELSQR LSDLSEQLKQ KHGEISFLNE EVKSLKQEKE 1000
    QVSLRCRELE IIINHNRAEN VQSCDTQVSS LLDGVVTMTS RGAEGSVSKV 1050
    NKSFGEESKI MVEDKVSFEN MTVGEESKQE QLILDHLPSV TKESSLRATQ 1100
    PSENDKLQKE LNVLKSEQND LRLQMEAQRI CLSLVYSTHV DQVREYMENE 1150
    KDKALCSLKE ELIFAQEEKI KELQKIHQLE LQTMKTQETG DEGKPLHLLI 1200
    GKLQKAVSEE CSYFLQTLCS VLGEYYTPAL KCEVNAEDKE NSGDYISENE 1250
    DPELQDYRYE VQDFQENMHT LLNKVTEEYN KLLVLQTRLS KIWGQQTDGM 1300
    KLEFGEENLP KEETEFLSIH SQMTNLEDID VNHKSKLSSL QDLEKTKLEE 1350
    QVQELESLIS SLQQQLKETE QNYEAEIHCL QKRLQAVSES TVPPSLPVDS 1400
    VVITESDAQR TMYPGSCVKK NIDGTIEFSG EFGVKEETNI VKLLEKQYQE 1450
    QLEEEVAKVI VSMSIAFAQQ TELSRISGGK ENTASSKQAH AVCQQEQHYF 1500
    NEMKLSQDQI GFQTFETVDV KFKEEFKPLS KELGEHGKEI LLSNSDPHDI 1550
    PESKDCVLTI SEEMFSKDKT FIVRQSIHDE ISVSSMDASR QLMLNEEQLE 1600
    DMRQELVRQY QEHQQATELL RQAHMRQMER QREDQEQLQE EIKRLNRQLA 1650
    QRSSIDNENL VSERERVLLE ELEALKQLSL AGREKLCCEL RNSSTQTQNG 1700
    NENQGEVEEQ TFKEKELDRK PEDVPPEILS NERYALQKAN NRLLKILLEV 1750
    VKTTAAVEET IGRHVLGILD RSSKSQSSAS LIWRSEAEAS VKSCVHEEHT 1800
    RVTDESIPSY SGSDMPRNDI NMWSKVTEEG TELSQRLVRS GFAGTEIDPE 1850
    NEELMLNISS RLQAAVEKLL EAISETSSQL EHAKVTQTEL MRESFRQKQE 1900
    ATESLKCQEE LRERLHEESR AREQLAVELS KAEGVIDGYA DEKTLFERQI 1950
    QEKTDIIDRL EQELLCASNR LQELEAEQQQ IQEERELLSR QKEAMKAEAG 2000
    PVEQQLLQET EKLMKEKLEV QCQAEKVRDD LQKQVKALEI DVEEQVSRFI 2050
    ELEQEKNTEL MDLRQQNQAL EKQLEKMRKF LDEQAIDREH ERDVFQQEIQ 2100
    KLEQQLKVVP RFQPISEHQT REVEQLANHL KEKTDKCSEL LLSKEQLQRD 2150
    IQERNEEIEK LEFRVRELEQ ALLVSADTFQ KVEDRKHFGA VEAKPELSLE 2200
    VQLQAERDAI DRKEKEITNL EEQLEQFREE LENKNEEVQQ LHMQLEIQKK 2250
    ESTTRLQELE QENKLFKDDM EKLGLAIKES DAMSTQDQHV LFGKFAQIIQ 2300
    EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE TQIECLMSDQ 2350
    ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL 2400
    DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE 2450
    SVEKIQSIPE NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE 2500
    NGKGSIINLE TRLLQLESTV SAKDLELTQC YKQIKDMQEQ GQFETEMLQK 2550
    KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA KFCQDNQTIS SEPERTNIQN 2600
    LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ VEIAEKNVLE 2650
    KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF 2700
    NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD 2750
    HLAEAKEKLS ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI 2800
    SSSNQTPQIL VKNAGIQINL QSECSSEEVT EIISQFTEKI EKMQELHAAE 2850
    ILDMESRHIS ETETLKREHY VAVQLLKEEC GTLKAVIQCL RSKEVFGFYN 2900
    MCFSTLCDSG SDWGQGIYLT HSQGFDIASE GRGEESESAT DSFPKKIKGL 2950
    LRAVHNEGMQ VLSLTESPYS DGEDHSIQQV SEPWLEERKA YINTISSLKD 3000
    LITKMQLQRE AEVYDSSQSH ESFSDWRGEL LLALQQVFLE ERSVLLAAFR 3050
    TELTALGTTD AVGLLNCLEQ RIQEQGVEYQ AAMECLQKAD RRSLLSEIQA 3100
    LHAQMNGRKI TLKREQESEK PSQELLEYNI QQKQSQMLEM QVELSSMKDR 3150
    ATELQEQLSS EKMVVAELKS ELAQTKLELE TTLKAQHKHL KELEAFRLEV 3200
    KDKTDEVHLL NDTLASEQKK SRELQWALEK EKAKLGRSEE RDKEELEDLK 3250
    FSLESQKQRN LQLNLLLEQQ KQLLNESQQK IESQRMLYDA QLSEEQGRNL 3300
    ELQVLLESEK VRIREMSSTL DRERELHAQL QSSDGTGQSR PPLPSEDLLK 3350
    ELQKQLEEKH SRIVELLNET EKYKLDSLQT RQQMEKDRQV HRKTLQTEQE 3400
    ANTEGQKKMH ELQSKVEDLQ RQLEEKRQQV YKLDLEGQRL QGIMQEFQKQ 3450
    ELEREEKRES RRILYQNLNE PTTWSLTSDR TRNWVLQQKI EGETKESNYA 3500
    KLIEMNGGGT GCNHELEMIR QKLQCVASKL QVLPQKASER LQFETADDED 3550
    FIWVQENIDE IILQLQKLTG QQGEEPSLVS PSTSCGSLTE RLLRQNAELT 3600
    GHISQLTEEK NDLRNMVMKL EEQIRWYRQT GAGRDNSSRF SLNGGANIEA 3650
    IIASEKEVWN REKLTLQKSL KRAEAEVYKL KAELRNDSLL QTLSPDSEHV 3700
    TLKRIYGKYL RAESFRKALI YQKKYLLLLL GGFQECEDAT LALLARMGGQ 3750
    PAFTDLEVIT NRPKGFTRFR SAVRVSIAIS RMKFLVRRWH RVTGSVSINI 3800
    NRDGFGLNQG AEKTDSFYHS SGGLELYGEP RHTTYRSRSD LDYIRSPLPF 3850
    QNRYPGTPAD FNPGSLACSQ LQNYDPDRAL TDYITRLEAL QRRLGTIQSG 3900
    STTQFHAGMR R 3911
    Length:3,911
    Mass (Da):453,667
    Last modified:August 1, 1999 - v3
    Checksum:i3FB1CB1C819B47AA
    GO
    Isoform 2 (identifier: Q99996-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         17-28: Missing.
         2895-2907: VFGFYNMCFSTLC → GSSIPELAHSDAYQTREICSS

    Show »
    Length:3,907
    Mass (Da):452,987
    Checksum:i81761B4341430CDF
    GO
    Isoform 3 (identifier: Q99996-3) [UniParc]FASTAAdd to Basket

    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

    Show »
    Length:3,899
    Mass (Da):452,110
    Checksum:iF90C9F18B32FD314
    GO
    Isoform 4 (identifier: Q99996-4) [UniParc]FASTAAdd to Basket

    Also known as: Yotiao

    The sequence of this isoform differs from the canonical sequence as follows:
         1637-1643: QLQEEIK → LAQVRVL
         1644-3911: Missing.

    Show »
    Length:1,643
    Mass (Da):191,308
    Checksum:iC41FBD5551FB644E
    GO
    Isoform 5 (identifier: Q99996-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2895-2948: Missing.

    Show »
    Length:3,857
    Mass (Da):447,753
    Checksum:i6DEB35CA282A0FDD
    GO
    Isoform 6 (identifier: Q99996-6) [UniParc]FASTAAdd to Basket

    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

    Show »
    Length:3,929
    Mass (Da):455,423
    Checksum:iEE569AD99523AE2F
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti76 – 761E → Q in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti554 – 5541E → G in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti638 – 6381R → S in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti663 – 6631N → S in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti913 – 9131H → N in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti956 – 9561K → N in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti980 – 9823QKH → PKP in AAB86384. (PubMed:9482789)Curated
    Sequence conflicti980 – 9823QKH → PKP in CAB40713. (PubMed:10202149)Curated
    Sequence conflicti997 – 9971Q → P in AAB86384. (PubMed:9482789)Curated
    Sequence conflicti997 – 9971Q → P in CAB40713. (PubMed:10202149)Curated
    Sequence conflicti1001 – 10011Q → P in AAB86384. (PubMed:9482789)Curated
    Sequence conflicti1001 – 10011Q → P in CAB40713. (PubMed:10202149)Curated
    Sequence conflicti1020 – 10201N → D in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti1028 – 10281V → E in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti1626 – 16261R → P in AAB86384. (PubMed:9482789)Curated
    Sequence conflicti1626 – 16261R → P in CAB40713. (PubMed:10202149)Curated
    Sequence conflicti1703 – 17031N → T in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti1707 – 17071V → G in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti1802 – 18032Missing in AAD22767. (PubMed:9915845)Curated
    Sequence conflicti1843 – 18431A → P in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti1956 – 19561I → V in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti2027 – 20271V → D in AAD22767. (PubMed:9915845)Curated
    Sequence conflicti2157 – 21582EI → HE in AAD39719. (PubMed:9915845)Curated
    Sequence conflicti2169 – 21691E → V in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti2514 – 25141L → R in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti2851 – 28511I → N in BAA34523. (PubMed:9872452)Curated
    Sequence conflicti2957 – 29571E → D in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti3087 – 30871Q → H in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti3218 – 32181Q → H in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti3307 – 33093ESE → QSQ in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti3751 – 37511P → A in BAA78718. (PubMed:10358086)Curated
    Sequence conflicti3833 – 38331T → S in BAA78718. (PubMed:10358086)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti475 – 4751M → I.1 Publication
    Corresponds to variant rs6964587 [ dbSNP | Ensembl ].
    VAR_024249
    Natural varianti1347 – 13471K → KQ.1 Publication
    VAR_010926
    Natural varianti1582 – 15821S → L in LQT11. 1 Publication
    VAR_043489
    Natural varianti2421 – 24211M → I in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035785
    Natural varianti2496 – 24961K → R.
    Corresponds to variant rs35759833 [ dbSNP | Ensembl ].
    VAR_043490
    Natural varianti2804 – 28041N → S.
    Corresponds to variant rs6960867 [ dbSNP | Ensembl ].
    VAR_030162
    Natural varianti2983 – 29831P → S.3 Publications
    Corresponds to variant rs1063242 [ dbSNP | Ensembl ].
    VAR_030163
    Natural varianti3301 – 33011E → Q in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035786
    Natural varianti3448 – 34481Q → R.
    Corresponds to variant rs34956633 [ dbSNP | Ensembl ].
    VAR_043491
    Natural varianti3618 – 36181M → V.
    Corresponds to variant rs34327395 [ dbSNP | Ensembl ].
    VAR_043492

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei17 – 2812Missing in isoform 2 and isoform 3. 3 PublicationsVSP_004102Add
    BLAST
    Alternative sequencei1637 – 16437QLQEEIK → LAQVRVL in isoform 4. 1 PublicationVSP_004103
    Alternative sequencei1644 – 39112268Missing in isoform 4. 1 PublicationVSP_004104Add
    BLAST
    Alternative sequencei2175 – 21839SADTFQKVE → Q in isoform 6. 1 PublicationVSP_004106
    Alternative sequencei2175 – 21828Missing in isoform 3. 1 PublicationVSP_004105
    Alternative sequencei2895 – 294854Missing in isoform 5. CuratedVSP_004108Add
    BLAST
    Alternative sequencei2895 – 290713VFGFY…FSTLC → GSSIPELAHSDAYQTREICS S in isoform 2, isoform 3 and isoform 6. 3 PublicationsVSP_004107Add
    BLAST
    Alternative sequencei3901 – 391111STTQFHAGMRR → ALSLTTSWQHHSARPTAPLF FEILSHSLG in isoform 6. 1 PublicationVSP_004109Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS5622.1. [Q99996-2]
    PIRiT08880.
    RefSeqiNP_005742.4. NM_005751.4. [Q99996-2]
    NP_671714.1. NM_147185.2. [Q99996-3]
    UniGeneiHs.651221.

    Genome annotation databases

    EnsembliENST00000356239; ENSP00000348573; ENSG00000127914. [Q99996-2]
    ENST00000358100; ENSP00000350813; ENSG00000127914. [Q99996-5]
    ENST00000359028; ENSP00000351922; ENSG00000127914. [Q99996-1]
    GeneIDi10142.
    KEGGihsa:10142.
    UCSCiuc003ulf.3. human. [Q99996-3]
    uc003ulg.3. human. [Q99996-2]

    Polymorphism databases

    DMDMi14194461.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS5622.1. [Q99996-2 ]
    PIRi T08880.
    RefSeqi NP_005742.4. NM_005751.4. [Q99996-2 ]
    NP_671714.1. NM_147185.2. [Q99996-3 ]
    UniGenei Hs.651221.

    3D structure databases

    ProteinModelPortali Q99996.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115445. 35 interactions.
    DIPi DIP-29942N.
    IntActi Q99996. 23 interactions.
    MINTi MINT-1174958.

    PTM databases

    PhosphoSitei Q99996.

    Polymorphism databases

    DMDMi 14194461.

    Proteomic databases

    MaxQBi Q99996.
    PaxDbi Q99996.
    PRIDEi Q99996.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000356239 ; ENSP00000348573 ; ENSG00000127914 . [Q99996-2 ]
    ENST00000358100 ; ENSP00000350813 ; ENSG00000127914 . [Q99996-5 ]
    ENST00000359028 ; ENSP00000351922 ; ENSG00000127914 . [Q99996-1 ]
    GeneIDi 10142.
    KEGGi hsa:10142.
    UCSCi uc003ulf.3. human. [Q99996-3 ]
    uc003ulg.3. human. [Q99996-2 ]

    Organism-specific databases

    CTDi 10142.
    GeneCardsi GC07P091570.
    GeneReviewsi AKAP9.
    HGNCi HGNC:379. AKAP9.
    HPAi CAB012909.
    HPA008548.
    HPA026109.
    MIMi 604001. gene.
    611820. phenotype.
    neXtProti NX_Q99996.
    Orphaneti 101016. Romano-Ward syndrome.
    PharmGKBi PA24673.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    HOVERGENi HBG050481.
    KOi K16551.
    OMAi KMRKFLD.
    OrthoDBi EOG7VMP46.
    PhylomeDBi Q99996.
    TreeFami TF105408.

    Enzyme and pathway databases

    Reactomei REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.
    REACT_20546. Ras activation uopn Ca2+ infux through NMDA receptor.
    REACT_20594. Unblocking of NMDA receptor, glutamate binding and activation.
    REACT_20642. CREB phosphorylation through the activation of CaMKII.
    SignaLinki Q99996.

    Miscellaneous databases

    ChiTaRSi AKAP9. human.
    GeneWikii AKAP9.
    GenomeRNAii 10142.
    NextBioi 38371.
    PROi Q99996.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99996.
    Bgeei Q99996.
    Genevestigatori Q99996.

    Family and domain databases

    InterProi IPR028745. AKAP9.
    IPR019528. PACT_domain.
    [Graphical view ]
    PANTHERi PTHR18932:SF10. PTHR18932:SF10. 1 hit.
    Pfami PF10495. PACT_coil_coil. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [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.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2212-3911 (ISOFORMS 2/3), VARIANT SER-2983.
      Tissue: Brain.
    9. "AKAP350 at the Golgi apparatus. II. Association of AKAP350 with a novel chloride intracellular channel (CLIC) family member."
      Shanks R.A., Larocca M.C., Berryman M., Edwards J.C., Urushidani T., Navarre J., Goldenring J.R.
      J. Biol. Chem. 277:40973-40980(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CLIC1; CLIC4 AND CLIC5.
    10. "Centrosomal anchoring of the protein kinase CK1delta mediated by attachment to the large, coiled-coil scaffolding protein CG-NAP/AKAP450."
      Sillibourne J.E., Milne D.M., Takahashi M., Ono Y., Meek D.W.
      J. Mol. Biol. 322:785-797(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CSNK1D, SUBCELLULAR LOCATION.
    11. "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] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH CIP4 AND FNBP1, SUBCELLULAR LOCATION.
    12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-3869, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    13. "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] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-165 AND SER-3846, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ILE-2421 AND GLN-3301.
    16. Cited for: VARIANT LQT11 LEU-1582.

    Entry informationi

    Entry nameiAKAP9_HUMAN
    AccessioniPrimary (citable) accession number: Q99996
    Secondary accession number(s): A4D1F0
    , A4D1F2, A4D1F4, O14869, O43355, O94895, Q75N20, Q9UQH3, Q9UQQ4, Q9Y6B8, Q9Y6Y2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 2001
    Last sequence update: August 1, 1999
    Last modified: October 1, 2014
    This is version 143 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3