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Protein

A-kinase anchor protein 9

Gene

AKAP9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Recruited to the Golgi apparatus by GM130/GOLGA2 and is required for microtubule nucleation at the cis-side of the Golgi apparatusGM130/GOLGA2.3 Publications
Isoform 4: 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

  • DNA binding Source: InterPro
  • ion channel binding Source: BHF-UCL
  • potassium channel regulator activity Source: BHF-UCL
  • protein complex scaffold Source: BHF-UCL
  • protein kinase A regulatory subunit binding Source: UniProtKB
  • Ras guanyl-nucleotide exchange factor activity Source: Reactome
  • receptor binding Source: ProtInc

GO - Biological processi

  • cardiac conduction Source: Reactome
  • cellular response to cAMP Source: BHF-UCL
  • chemical synaptic transmission Source: ProtInc
  • G2/M transition of mitotic cell cycle Source: Reactome
  • MAPK cascade Source: Reactome
  • microtubule nucleation Source: UniProtKB
  • negative regulation of adenylate cyclase activity Source: Ensembl
  • positive regulation of peptidyl-serine phosphorylation Source: BHF-UCL
  • positive regulation of potassium ion transmembrane transporter activity Source: BHF-UCL
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of membrane repolarization Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  • response to electrical stimulus Source: Ensembl
  • signal transduction Source: ProtInc
  • transport Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000127914-MONOMER.
ReactomeiR-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
R-HSA-380259. Loss of Nlp from mitotic centrosomes.
R-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-438066. Unblocking of NMDA receptor, glutamate binding and activation.
R-HSA-442729. CREB phosphorylation through the activation of CaMKII.
R-HSA-442982. Ras activation uopn Ca2+ infux through NMDA receptor.
R-HSA-5576890. Phase 3 - rapid repolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
R-HSA-5673001. RAF/MAP kinase cascade.
R-HSA-6802952. Signaling by BRAF and RAF fusions.
R-HSA-8854518. AURKA Activation by TPX2.
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 protein1 Publication
Short name:
CG-NAP1 Publication
Protein hyperion1 Publication
Protein kinase A-anchoring protein 9
Short name:
PRKA9
Protein yotiao1 Publication
Gene namesi
Name:AKAP9
Synonyms:AKAP350, AKAP450, KIAA0803
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:379. AKAP9.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • cis-Golgi network Source: SYSCILIA_CCNET
  • cytoskeleton Source: ProtInc
  • cytosol Source: Reactome
  • dendritic branch Source: Ensembl
  • Golgi apparatus Source: UniProtKB
  • Golgi stack Source: UniProtKB
  • intracellular membrane-bounded organelle Source: HPA
  • neuronal cell body Source: Ensembl
  • synaptic membrane Source: Ensembl
  • voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Long QT syndrome 11 (LQT11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:611820
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0434891582S → L in LQT11. 1 Publication1

Keywords - Diseasei

Disease mutation, Long QT syndrome

Organism-specific databases

DisGeNETi10142.
MalaCardsiAKAP9.
MIMi611820. phenotype.
OpenTargetsiENSG00000127914.
Orphaneti101016. Romano-Ward syndrome.
PharmGKBiPA24673.

Polymorphism and mutation databases

BioMutaiAKAP9.
DMDMi14194461.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000645341 – 3911A-kinase anchor protein 9Add BLAST3911

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei165PhosphoserineCombined sources1
Modified residuei1339PhosphoserineCombined sources1
Modified residuei1777PhosphoserineCombined sources1
Modified residuei3694PhosphoserineCombined sources1
Modified residuei3846PhosphoserineCombined sources1
Modified residuei3869PhosphoserineCombined sources1
Modified residuei3901PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ99996.
MaxQBiQ99996.
PaxDbiQ99996.
PeptideAtlasiQ99996.
PRIDEiQ99996.

PTM databases

iPTMnetiQ99996.
PhosphoSitePlusiQ99996.
SwissPalmiQ99996.

Expressioni

Tissue specificityi

Widely expressed (PubMed:10202149). Isoform 4: Highly expressed in skeletal muscle and in pancreas (PubMed:9482789).2 Publications

Gene expression databases

BgeeiENSG00000127914.
ExpressionAtlasiQ99996. baseline and differential.
GenevisibleiQ99996. HS.

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 (PubMed:15047863). Interacts with chloride intracellular channel proteins CLIC1, CLIC4 and CLIC5 (PubMed:12163479). CSNK1D binding promotes its centrosomal subcellular location (PubMed:12270714). Interacts with GM130/GOLGA2; leading to recruitment to the Golgi apparatus (PubMed:19242490). Interacts with KCNQ1; targets protein kinase A (PKA) catalytic and regulatory subunits and protein phosphatase 1 (PP1), to the heterodimer KCNQ1-KCNE1 (PubMed:11799244).5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BLZF1Q9H2G93EBI-9641546,EBI-2548012
C1orf94Q6P1W53EBI-9641546,EBI-946029
GOLGA2Q083793EBI-1048311,EBI-618309
HNRNPMP522723EBI-9641546,EBI-486809
IKZF3Q9UKT93EBI-9641546,EBI-747204
KDM1AO603412EBI-1048311,EBI-710124
MAGEA6P433603EBI-9641546,EBI-1045155
MAGED1Q9Y5V33EBI-9641546,EBI-716006
PRDM14Q9GZV83EBI-9641546,EBI-3957793
SAMD3Q8N6K73EBI-9641546,EBI-748741
SSX2BQ163853EBI-9641546,EBI-2210673
THAP1Q9NVV93EBI-9641546,EBI-741515
USHBP1Q8N6Y03EBI-9641546,EBI-739895
USO1O607633EBI-9641546,EBI-356164
WACQ9BTA93EBI-9641546,EBI-749118

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL
  • protein complex scaffold Source: BHF-UCL
  • protein kinase A regulatory subunit binding Source: UniProtKB
  • receptor binding Source: ProtInc

Protein-protein interaction databases

BioGridi115445. 74 interactors.
DIPiDIP-29942N.
IntActiQ99996. 49 interactors.
MINTiMINT-1174958.
STRINGi9606.ENSP00000348573.

Structurei

3D structure databases

ProteinModelPortaliQ99996.
SMRiQ99996.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2554 – 2567PKA-RII subunit binding domainAdd BLAST14

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili164 – 914Sequence analysisAdd BLAST751
Coiled coili944 – 1022Sequence analysisAdd BLAST79
Coiled coili1100 – 1185Sequence analysisAdd BLAST86
Coiled coili1253 – 1280Sequence analysisAdd BLAST28
Coiled coili1336 – 1392Sequence analysisAdd BLAST57
Coiled coili1434 – 1459Sequence analysisAdd BLAST26
Coiled coili1585 – 1659Sequence analysisAdd BLAST75
Coiled coili1857 – 2455Sequence analysisAdd BLAST599
Coiled coili2544 – 2561Sequence analysisAdd BLAST18
Coiled coili2603 – 2776Sequence analysisAdd BLAST174
Coiled coili3065 – 3092Sequence analysisAdd BLAST28
Coiled coili3124 – 3470Sequence analysisAdd BLAST347
Coiled coili3587 – 3689Sequence analysisAdd BLAST103

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi203 – 292Gln-richAdd BLAST90
Compositional biasi321 – 1010Glu-richAdd BLAST690
Compositional biasi1846 – 2772Glu-richAdd BLAST927
Compositional biasi3726 – 3730Poly-Leu5

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

eggNOGiENOG410II47. Eukaryota.
ENOG41101YB. LUCA.
GeneTreeiENSGT00730000110871.
HOVERGENiHBG050481.
InParanoidiQ99996.
KOiK16551.
PhylomeDBiQ99996.
TreeFamiTF105408.

Family and domain databases

InterProiIPR028745. AKAP9.
IPR005539. ELK_dom.
IPR019528. PACT_domain.
[Graphical view]
PANTHERiPTHR18937:SF252. PTHR18937:SF252. 6 hits.
PfamiPF10495. PACT_coil_coil. 1 hit.
[Graphical view]
SMARTiSM01188. ELK. 4 hits.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MEDEERQKKL EAGKAKIEEL SLAFLVRQLA QFRQRKAQSD GQSPSKKQKK
60 70 80 90 100
KRKTSSSKHD VSAHHDLNID QSQCNEMYIN SSQRVESTVI PESTIMRTLH
110 120 130 140 150
SGEITSHEQG FSVELESEIS TTADDCSSEV NGCSFVMRTG KPTNLLREEE
160 170 180 190 200
FGVDDSYSEQ GAQDSPTHLE MMESELAGKQ HEIEELNREL EEMRVTYGTE
210 220 230 240 250
GLQQLQEFEA AIKQRDGIIT QLTANLQQAR REKDETMREF LELTEQSQKL
260 270 280 290 300
QIQFQQLQAS ETLRNSTHSS TAADLLQAKQ QILTHQQQLE EQDHLLEDYQ
310 320 330 340 350
KKKEDFTMQI SFLQEKIKVY EMEQDKKVEN SNKEEIQEKE TIIEELNTKI
360 370 380 390 400
IEEEKKTLEL KDKLTTADKL LGELQEQIVQ KNQEIKNMKL ELTNSKQKER
410 420 430 440 450
QSSEEIKQLM GTVEELQKRN HKDSQFETDI VQRMEQETQR KLEQLRAELD
460 470 480 490 500
EMYGQQIVQM KQELIRQHMA QMEEMKTRHK GEMENALRSY SNITVNEDQI
510 520 530 540 550
KLMNVAINEL NIKLQDTNSQ KEKLKEELGL ILEEKCALQR QLEDLVEELS
560 570 580 590 600
FSREQIQRAR QTIAEQESKL NEAHKSLSTV EDLKAEIVSA SESRKELELK
610 620 630 640 650
HEAEVTNYKI KLEMLEKEKN AVLDRMAESQ EAELERLRTQ LLFSHEEELS
660 670 680 690 700
KLKEDLEIEH RINIEKLKDN LGIHYKQQID GLQNEMSQKI ETMQFEKDNL
710 720 730 740 750
ITKQNQLILE ISKLKDLQQS LVNSKSEEMT LQINELQKEI EILRQEEKEK
760 770 780 790 800
GTLEQEVQEL QLKTELLEKQ MKEKENDLQE KFAQLEAENS ILKDEKKTLE
810 820 830 840 850
DMLKIHTPVS QEERLIFLDS IKSKSKDSVW EKEIEILIEE NEDLKQQCIQ
860 870 880 890 900
LNEEIEKQRN TFSFAEKNFE VNYQELQEEY ACLLKVKDDL EDSKNKQELE
910 920 930 940 950
YKSKLKALNE ELHLQRINPT TVKMKSSVFD EDKTFVAETL EMGEVVEKDT
960 970 980 990 1000
TELMEKLEVT KREKLELSQR LSDLSEQLKQ KHGEISFLNE EVKSLKQEKE
1010 1020 1030 1040 1050
QVSLRCRELE IIINHNRAEN VQSCDTQVSS LLDGVVTMTS RGAEGSVSKV
1060 1070 1080 1090 1100
NKSFGEESKI MVEDKVSFEN MTVGEESKQE QLILDHLPSV TKESSLRATQ
1110 1120 1130 1140 1150
PSENDKLQKE LNVLKSEQND LRLQMEAQRI CLSLVYSTHV DQVREYMENE
1160 1170 1180 1190 1200
KDKALCSLKE ELIFAQEEKI KELQKIHQLE LQTMKTQETG DEGKPLHLLI
1210 1220 1230 1240 1250
GKLQKAVSEE CSYFLQTLCS VLGEYYTPAL KCEVNAEDKE NSGDYISENE
1260 1270 1280 1290 1300
DPELQDYRYE VQDFQENMHT LLNKVTEEYN KLLVLQTRLS KIWGQQTDGM
1310 1320 1330 1340 1350
KLEFGEENLP KEETEFLSIH SQMTNLEDID VNHKSKLSSL QDLEKTKLEE
1360 1370 1380 1390 1400
QVQELESLIS SLQQQLKETE QNYEAEIHCL QKRLQAVSES TVPPSLPVDS
1410 1420 1430 1440 1450
VVITESDAQR TMYPGSCVKK NIDGTIEFSG EFGVKEETNI VKLLEKQYQE
1460 1470 1480 1490 1500
QLEEEVAKVI VSMSIAFAQQ TELSRISGGK ENTASSKQAH AVCQQEQHYF
1510 1520 1530 1540 1550
NEMKLSQDQI GFQTFETVDV KFKEEFKPLS KELGEHGKEI LLSNSDPHDI
1560 1570 1580 1590 1600
PESKDCVLTI SEEMFSKDKT FIVRQSIHDE ISVSSMDASR QLMLNEEQLE
1610 1620 1630 1640 1650
DMRQELVRQY QEHQQATELL RQAHMRQMER QREDQEQLQE EIKRLNRQLA
1660 1670 1680 1690 1700
QRSSIDNENL VSERERVLLE ELEALKQLSL AGREKLCCEL RNSSTQTQNG
1710 1720 1730 1740 1750
NENQGEVEEQ TFKEKELDRK PEDVPPEILS NERYALQKAN NRLLKILLEV
1760 1770 1780 1790 1800
VKTTAAVEET IGRHVLGILD RSSKSQSSAS LIWRSEAEAS VKSCVHEEHT
1810 1820 1830 1840 1850
RVTDESIPSY SGSDMPRNDI NMWSKVTEEG TELSQRLVRS GFAGTEIDPE
1860 1870 1880 1890 1900
NEELMLNISS RLQAAVEKLL EAISETSSQL EHAKVTQTEL MRESFRQKQE
1910 1920 1930 1940 1950
ATESLKCQEE LRERLHEESR AREQLAVELS KAEGVIDGYA DEKTLFERQI
1960 1970 1980 1990 2000
QEKTDIIDRL EQELLCASNR LQELEAEQQQ IQEERELLSR QKEAMKAEAG
2010 2020 2030 2040 2050
PVEQQLLQET EKLMKEKLEV QCQAEKVRDD LQKQVKALEI DVEEQVSRFI
2060 2070 2080 2090 2100
ELEQEKNTEL MDLRQQNQAL EKQLEKMRKF LDEQAIDREH ERDVFQQEIQ
2110 2120 2130 2140 2150
KLEQQLKVVP RFQPISEHQT REVEQLANHL KEKTDKCSEL LLSKEQLQRD
2160 2170 2180 2190 2200
IQERNEEIEK LEFRVRELEQ ALLVSADTFQ KVEDRKHFGA VEAKPELSLE
2210 2220 2230 2240 2250
VQLQAERDAI DRKEKEITNL EEQLEQFREE LENKNEEVQQ LHMQLEIQKK
2260 2270 2280 2290 2300
ESTTRLQELE QENKLFKDDM EKLGLAIKES DAMSTQDQHV LFGKFAQIIQ
2310 2320 2330 2340 2350
EKEVEIDQLN EQVTKLQQQL KITTDNKVIE EKNELIRDLE TQIECLMSDQ
2360 2370 2380 2390 2400
ECVKRNREEE IEQLNEVIEK LQQELANIGQ KTSMNAHSLS EEADSLKHQL
2410 2420 2430 2440 2450
DVVIAEKLAL EQQVETANEE MTFMKNVLKE TNFKMNQLTQ ELFSLKRERE
2460 2470 2480 2490 2500
SVEKIQSIPE NSVNVAIDHL SKDKPELEVV LTEDALKSLE NQTYFKSFEE
2510 2520 2530 2540 2550
NGKGSIINLE TRLLQLESTV SAKDLELTQC YKQIKDMQEQ GQFETEMLQK
2560 2570 2580 2590 2600
KIVNLQKIVE EKVAAALVSQ IQLEAVQEYA KFCQDNQTIS SEPERTNIQN
2610 2620 2630 2640 2650
LNQLREDELG SDISALTLRI SELESQVVEM HTSLILEKEQ VEIAEKNVLE
2660 2670 2680 2690 2700
KEKKLLELQK LLEGNEKKQR EKEKKRSPQD VEVLKTTTEL FHSNEESGFF
2710 2720 2730 2740 2750
NELEALRAES VATKAELASY KEKAEKLQEE LLVKETNMTS LQKDLSQVRD
2760 2770 2780 2790 2800
HLAEAKEKLS ILEKEDETEV QESKKACMFE PLPIKLSKSI ASQTDGTLKI
2810 2820 2830 2840 2850
SSSNQTPQIL VKNAGIQINL QSECSSEEVT EIISQFTEKI EKMQELHAAE
2860 2870 2880 2890 2900
ILDMESRHIS ETETLKREHY VAVQLLKEEC GTLKAVIQCL RSKEVFGFYN
2910 2920 2930 2940 2950
MCFSTLCDSG SDWGQGIYLT HSQGFDIASE GRGEESESAT DSFPKKIKGL
2960 2970 2980 2990 3000
LRAVHNEGMQ VLSLTESPYS DGEDHSIQQV SEPWLEERKA YINTISSLKD
3010 3020 3030 3040 3050
LITKMQLQRE AEVYDSSQSH ESFSDWRGEL LLALQQVFLE ERSVLLAAFR
3060 3070 3080 3090 3100
TELTALGTTD AVGLLNCLEQ RIQEQGVEYQ AAMECLQKAD RRSLLSEIQA
3110 3120 3130 3140 3150
LHAQMNGRKI TLKREQESEK PSQELLEYNI QQKQSQMLEM QVELSSMKDR
3160 3170 3180 3190 3200
ATELQEQLSS EKMVVAELKS ELAQTKLELE TTLKAQHKHL KELEAFRLEV
3210 3220 3230 3240 3250
KDKTDEVHLL NDTLASEQKK SRELQWALEK EKAKLGRSEE RDKEELEDLK
3260 3270 3280 3290 3300
FSLESQKQRN LQLNLLLEQQ KQLLNESQQK IESQRMLYDA QLSEEQGRNL
3310 3320 3330 3340 3350
ELQVLLESEK VRIREMSSTL DRERELHAQL QSSDGTGQSR PPLPSEDLLK
3360 3370 3380 3390 3400
ELQKQLEEKH SRIVELLNET EKYKLDSLQT RQQMEKDRQV HRKTLQTEQE
3410 3420 3430 3440 3450
ANTEGQKKMH ELQSKVEDLQ RQLEEKRQQV YKLDLEGQRL QGIMQEFQKQ
3460 3470 3480 3490 3500
ELEREEKRES RRILYQNLNE PTTWSLTSDR TRNWVLQQKI EGETKESNYA
3510 3520 3530 3540 3550
KLIEMNGGGT GCNHELEMIR QKLQCVASKL QVLPQKASER LQFETADDED
3560 3570 3580 3590 3600
FIWVQENIDE IILQLQKLTG QQGEEPSLVS PSTSCGSLTE RLLRQNAELT
3610 3620 3630 3640 3650
GHISQLTEEK NDLRNMVMKL EEQIRWYRQT GAGRDNSSRF SLNGGANIEA
3660 3670 3680 3690 3700
IIASEKEVWN REKLTLQKSL KRAEAEVYKL KAELRNDSLL QTLSPDSEHV
3710 3720 3730 3740 3750
TLKRIYGKYL RAESFRKALI YQKKYLLLLL GGFQECEDAT LALLARMGGQ
3760 3770 3780 3790 3800
PAFTDLEVIT NRPKGFTRFR SAVRVSIAIS RMKFLVRRWH RVTGSVSINI
3810 3820 3830 3840 3850
NRDGFGLNQG AEKTDSFYHS SGGLELYGEP RHTTYRSRSD LDYIRSPLPF
3860 3870 3880 3890 3900
QNRYPGTPAD FNPGSLACSQ LQNYDPDRAL TDYITRLEAL QRRLGTIQSG
3910
STTQFHAGMR R
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 differs from that shown. Reason: Frameshift at position 1637.Curated
The sequence AAC60380 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti76E → Q in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti554E → G in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti638R → S in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti663N → S in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti913H → N in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti956K → N in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti980 – 982QKH → PKP in AAB86384 (PubMed:9482789).Curated3
Sequence conflicti980 – 982QKH → PKP in CAB40713 (PubMed:10202149).Curated3
Sequence conflicti997Q → P in AAB86384 (PubMed:9482789).Curated1
Sequence conflicti997Q → P in CAB40713 (PubMed:10202149).Curated1
Sequence conflicti1001Q → P in AAB86384 (PubMed:9482789).Curated1
Sequence conflicti1001Q → P in CAB40713 (PubMed:10202149).Curated1
Sequence conflicti1020N → D in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti1028V → E in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti1626R → P in AAB86384 (PubMed:9482789).Curated1
Sequence conflicti1626R → P in CAB40713 (PubMed:10202149).Curated1
Sequence conflicti1703N → T in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti1707V → G in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti1802 – 1803Missing in AAD22767 (PubMed:9915845).Curated2
Sequence conflicti1843A → P in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti1956I → V in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti2027V → D in AAD22767 (PubMed:9915845).Curated1
Sequence conflicti2157 – 2158EI → HE in AAD39719 (PubMed:9915845).Curated2
Sequence conflicti2169E → V in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti2514L → R in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti2851I → N in BAA34523 (PubMed:9872452).Curated1
Sequence conflicti2957E → D in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti3087Q → H in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti3218Q → H in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti3307 – 3309ESE → QSQ in BAA78718 (PubMed:10358086).Curated3
Sequence conflicti3751P → A in BAA78718 (PubMed:10358086).Curated1
Sequence conflicti3833T → S in BAA78718 (PubMed:10358086).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024249475M → I.1 PublicationCorresponds to variant rs6964587dbSNPEnsembl.1
Natural variantiVAR_0109261347K → KQ.1 Publication1
Natural variantiVAR_0434891582S → L in LQT11. 1 Publication1
Natural variantiVAR_0357852421M → I in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0434902496K → R.Corresponds to variant rs35759833dbSNPEnsembl.1
Natural variantiVAR_0301622804N → S.Corresponds to variant rs6960867dbSNPEnsembl.1
Natural variantiVAR_0301632983P → S.3 PublicationsCorresponds to variant rs1063242dbSNPEnsembl.1
Natural variantiVAR_0357863301E → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0434913448Q → R.Corresponds to variant rs34956633dbSNPEnsembl.1
Natural variantiVAR_0434923618M → V.Corresponds to variant rs34327395dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00410217 – 28Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST12
Alternative sequenceiVSP_0041031637 – 1643QLQEEIK → LAQVRVL in isoform 4. 1 Publication7
Alternative sequenceiVSP_0041041644 – 3911Missing in isoform 4. 1 PublicationAdd BLAST2268
Alternative sequenceiVSP_0041062175 – 2183SADTFQKVE → Q in isoform 6. 1 Publication9
Alternative sequenceiVSP_0041052175 – 2182Missing in isoform 3. 1 Publication8
Alternative sequenceiVSP_0041082895 – 2948Missing in isoform 5. CuratedAdd BLAST54
Alternative sequenceiVSP_0041072895 – 2907VFGFY…FSTLC → GSSIPELAHSDAYQTREICS S in isoform 2, isoform 3 and isoform 6. 3 PublicationsAdd BLAST13
Alternative sequenceiVSP_0041093901 – 3911STTQFHAGMRR → ALSLTTSWQHHSARPTAPLF FEILSHSLG in isoform 6. 1 PublicationAdd BLAST11

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
GeneIDi10142.
KEGGihsa:10142.
UCSCiuc003ulg.4. human. [Q99996-1]

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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ99996.
SMRiQ99996.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115445. 74 interactors.
DIPiDIP-29942N.
IntActiQ99996. 49 interactors.
MINTiMINT-1174958.
STRINGi9606.ENSP00000348573.

PTM databases

iPTMnetiQ99996.
PhosphoSitePlusiQ99996.
SwissPalmiQ99996.

Polymorphism and mutation databases

BioMutaiAKAP9.
DMDMi14194461.

Proteomic databases

EPDiQ99996.
MaxQBiQ99996.
PaxDbiQ99996.
PeptideAtlasiQ99996.
PRIDEiQ99996.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356239; ENSP00000348573; ENSG00000127914. [Q99996-2]
GeneIDi10142.
KEGGihsa:10142.
UCSCiuc003ulg.4. human. [Q99996-1]

Organism-specific databases

CTDi10142.
DisGeNETi10142.
GeneCardsiAKAP9.
GeneReviewsiAKAP9.
HGNCiHGNC:379. AKAP9.
HPAiCAB012909.
HPA008548.
HPA026109.
MalaCardsiAKAP9.
MIMi604001. gene.
611820. phenotype.
neXtProtiNX_Q99996.
OpenTargetsiENSG00000127914.
Orphaneti101016. Romano-Ward syndrome.
PharmGKBiPA24673.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II47. Eukaryota.
ENOG41101YB. LUCA.
GeneTreeiENSGT00730000110871.
HOVERGENiHBG050481.
InParanoidiQ99996.
KOiK16551.
PhylomeDBiQ99996.
TreeFamiTF105408.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000127914-MONOMER.
ReactomeiR-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
R-HSA-380259. Loss of Nlp from mitotic centrosomes.
R-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-438066. Unblocking of NMDA receptor, glutamate binding and activation.
R-HSA-442729. CREB phosphorylation through the activation of CaMKII.
R-HSA-442982. Ras activation uopn Ca2+ infux through NMDA receptor.
R-HSA-5576890. Phase 3 - rapid repolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
R-HSA-5673001. RAF/MAP kinase cascade.
R-HSA-6802952. Signaling by BRAF and RAF fusions.
R-HSA-8854518. AURKA Activation by TPX2.
SignaLinkiQ99996.

Miscellaneous databases

ChiTaRSiAKAP9. human.
GeneWikiiAKAP9.
GenomeRNAii10142.
PROiQ99996.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000127914.
ExpressionAtlasiQ99996. baseline and differential.
GenevisibleiQ99996. HS.

Family and domain databases

InterProiIPR028745. AKAP9.
IPR005539. ELK_dom.
IPR019528. PACT_domain.
[Graphical view]
PANTHERiPTHR18937:SF252. PTHR18937:SF252. 6 hits.
PfamiPF10495. PACT_coil_coil. 1 hit.
[Graphical view]
SMARTiSM01188. ELK. 4 hits.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 166 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.