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Protein

Alpha-protein kinase 3

Gene

ALPK3

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

Functioni

Involved in cardiomyocyte differentiation.4 Publications

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.By similarity

GO - Molecular functioni

GO - Biological processi

  • cardiac muscle cell development Source: GO_Central
  • heart development Source: HGNC

Keywordsi

Molecular functionDevelopmental protein, Kinase, Serine/threonine-protein kinase, Transferase

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-protein kinase 3Curated (EC:2.7.11.1By similarity)
Alternative name(s):
Muscle alpha-protein kinase1 Publication
Gene namesi
Name:ALPK3Imported
Synonyms:KIAA13301 Publication, MAK1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000136383.6
HGNCiHGNC:17574 ALPK3
MIMi617608 gene
neXtProtiNX_Q96L96

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic 27 (CMH27)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH27 is a severe, early-onset form with features of hypertrophic and dilated cardiomyopathy.
See also OMIM:618052
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0791421261 – 1907Missing in CMH27. 1 PublicationAdd BLAST647
Natural variantiVAR_0791431264 – 1907Missing in CMH27. 1 PublicationAdd BLAST644
Natural variantiVAR_0791441765 – 1907Missing in CMH27. 1 PublicationAdd BLAST143

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi57538
MIMi618052 phenotype
OpenTargetsiENSG00000136383
PharmGKBiPA134921552

Polymorphism and mutation databases

BioMutaiALPK3
DMDMi296434393

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002600311 – 1907Alpha-protein kinase 3Add BLAST1907

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei430PhosphoserineBy similarity1
Modified residuei1424PhosphoserineBy similarity1
Disulfide bondi1498 ↔ 1548PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

EPDiQ96L96
PaxDbiQ96L96
PeptideAtlasiQ96L96
PRIDEiQ96L96
ProteomicsDBi77171

PTM databases

iPTMnetiQ96L96
PhosphoSitePlusiQ96L96

Expressioni

Gene expression databases

BgeeiENSG00000136383 Expressed in 135 organ(s), highest expression level in gastrocnemius
CleanExiHS_ALPK3
HS_MAK
GenevisibleiQ96L96 HS

Organism-specific databases

HPAiHPA026558

Interactioni

Protein-protein interaction databases

IntActiQ96L96, 1 interactor
STRINGi9606.ENSP00000258888

Structurei

3D structure databases

ProteinModelPortaliQ96L96
SMRiQ96L96
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini279 – 370Ig-like 1Add BLAST92
Domaini1476 – 1564Ig-like 2Add BLAST89
Domaini1592 – 1827Alpha-type protein kinasePROSITE-ProRule annotationAdd BLAST236

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi170 – 175Poly-Ala6
Compositional biasi517 – 521Poly-Lys5
Compositional biasi766 – 771Poly-Ser6
Compositional biasi1166 – 1172Poly-Leu7

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

eggNOGiENOG410IHFU Eukaryota
ENOG410Y8B3 LUCA
GeneTreeiENSGT00530000063799
HOGENOMiHOG000169775
HOVERGENiHBG074162
InParanoidiQ96L96
KOiK08868
OMAiTQEDRRM
OrthoDBiEOG091G01T6
PhylomeDBiQ96L96
TreeFamiTF332629

Family and domain databases

Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR011009 Kinase-like_dom_sf
IPR004166 MHCK_EF2_kinase
PfamiView protein in Pfam
PF02816 Alpha_kinase, 1 hit
PF07679 I-set, 1 hit
SMARTiView protein in SMART
SM00811 Alpha_kinase, 1 hit
SM00409 IG, 2 hits
SM00408 IGc2, 2 hits
SUPFAMiSSF48726 SSF48726, 2 hits
SSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS51158 ALPHA_KINASE, 1 hit
PS50835 IG_LIKE, 2 hits

Sequencei

Sequence statusi: Complete.

Q96L96-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEVAWLVYVL GQQPLARQGE GQSRLVPGRG LVLWLPGLPR SSPSWPAVDL
60 70 80 90 100
APLAPARPRG PLICHTGHEQ AGREPGPGSS TKGPVLHDQD TRCAFLPRPP
110 120 130 140 150
GPLQTRRYCR HQGRQGSGLG AGPGAGTWAP APPGVSKPRC PGRARPGEGQ
160 170 180 190 200
QQVTTARPPA INRGARQPRA GAAAAGRGPG AGAWRTGEAA ASAGPAVGEG
210 220 230 240 250
GAMGSRRAPS RGWGAGGRSG AGGDGEDDGP VWIPSPASRS YLLSVRPETS
260 270 280 290 300
LSSNRLSHPS SGRSTFCSII AQLTEETQPL FETTLKSRSV SEDSDVRFTC
310 320 330 340 350
IVTGYPEPEV TWYKDDTELD RYCGLPKYEI THQGNRHTLQ LYRCREEDAA
360 370 380 390 400
IYQASAQNSK GIVSCSGVLE VGTMTEYKIH QRWFAKLKRK AAAKLREIEQ
410 420 430 440 450
SWKHEKAVPG EVDTLRKLSP DRFQRKRRLS GAQAPGPSVP TREPEGGTLA
460 470 480 490 500
AWQEGETETA QHSGLGLINS FASGEVTTNG EAAPENGEDG EHGLLTYICD
510 520 530 540 550
AMELGPQRAL KEESGAKKKK KDEESKQGLR KPELEKAAQS RRSSENCIPS
560 570 580 590 600
SDEPDSCGTQ GPVGVEQVQT QPRGRAARGP GSSGTDSTRK PASAVGTPDK
610 620 630 640 650
AQKAPGPGPG QEVYFSLKDM YLENTQAVRP LGEEGPQTLS VRAPGESPKG
660 670 680 690 700
KAPLRARSEG VPGAPGQPTH SLTPQPTRPF NRKRFAPPKP KGEATTDSKP
710 720 730 740 750
ISSLSQAPEC GAQSLGKAPP QASVQVPTPP ARRRHGTRDS TLQGQAGHRT
760 770 780 790 800
PGEVLECQTT TAPTMSASSS SDVASIGVST SGSQGIIEPM DMETQEDGRT
810 820 830 840 850
SANQRTGSKK NVQADGKIQV DGRTRGDGTQ TAQRTRADRK TQVDAGTQES
860 870 880 890 900
KRPQSDRSAQ KGMMTQGRAE TQLETTQAGE KIQEDRKAQA DKGTQEDRRM
910 920 930 940 950
QGEKGMQGEK GTQSEGSAPT AMEGQSEQEV ATSLGPPSRT PKLPPTAGPR
960 970 980 990 1000
APLNIECFVQ TPEGSCFPKK PGCLPRSEEA VVTASRNHEQ TVLGPLSGNL
1010 1020 1030 1040 1050
MLPAQPPHEG SVEQVGGERC RGPQSSGPVE AKQEDSPFQC PKEERPGGVP
1060 1070 1080 1090 1100
CMDQGGCPLA GLSQEVPTMP SLPGTGLTAS PKAGPCSTPT SQHGSTATFL
1110 1120 1130 1140 1150
PSEDQVLMSS APTLHLGLGT PTQSHPPETM ATSSEGACAQ VPDVEGRTPG
1160 1170 1180 1190 1200
PRSCDPGLID SLKNYLLLLL KLSSTETSGA GGESQVGAAT GGLVPSATLT
1210 1220 1230 1240 1250
PTVEVAGLSP RTSRRILERV ENNHLVQSAQ TLLLSPCTSR RLTGLLDREV
1260 1270 1280 1290 1300
QAGRQALAAA RGSWGPGPSS LTVPAIVVDE EDPGLASEGA SEGEGEVSPE
1310 1320 1330 1340 1350
GPGLLGASQE SSMAGRLGEA GGQAAPGQGP SAESIAQEPS QEEKFPGEAL
1360 1370 1380 1390 1400
TGLPAATPEE LALGARRKRF LPKVRAAGDG EATTPEERES PTVSPRGPRK
1410 1420 1430 1440 1450
SLVPGSPGTP GRERRSPTQG RKASMLEVPR AEEELAAGDL GPSPKAGGLD
1460 1470 1480 1490 1500
TEVALDEGKQ ETLAKPRKAK DLLKAPQVIR KIRVEQFPDA SGSLKLWCQF
1510 1520 1530 1540 1550
FNILSDSVLT WAKDQRPVGE VGRSAGDEGP AALAIVQASP VDCGVYRCTI
1560 1570 1580 1590 1600
HNEHGSASTD FCLSPEVLSG FISREEGEVG EEIEMTPMVF AKGLADSGCW
1610 1620 1630 1640 1650
GDKLFGRLVS EELRGGGYGC GLRKASQAKV IYGLEPIFES GRTCIIKVSS
1660 1670 1680 1690 1700
LLVFGPSSET SLVGRNYDVT IQGCKIQNMS REYCKIFAAE ARAAPGFGEV
1710 1720 1730 1740 1750
PEIIPLYLIY RPANNIPYAT LEEDLGKPLE SYCSREWGCA EAPTASGSSE
1760 1770 1780 1790 1800
AMQKCQTFQH WLYQWTNGSF LVTDLAGVDW KMTDVQIATK LRGYQGLKES
1810 1820 1830 1840 1850
CFPALLDRFA SSHQCNAYCE LLGLTPLKGP EAAHPQAKAK GSKSPSAGRK
1860 1870 1880 1890 1900
GSQLSPQPQK KGLPSPQGTR KSAPSSKATP QASEPVTTQL LGQPPTQEEG

SKAQGMR
Length:1,907
Mass (Da):201,272
Last modified:May 18, 2010 - v2
Checksum:i3896A1EC187BF5C7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti210S → T in AAK95951 (PubMed:10021370).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_041524336R → H1 PublicationCorresponds to variant dbSNP:rs34407151EnsemblClinVar.1
Natural variantiVAR_041525338T → I1 PublicationCorresponds to variant dbSNP:rs56015306EnsemblClinVar.1
Natural variantiVAR_028989414T → S1 PublicationCorresponds to variant dbSNP:rs3803403EnsemblClinVar.1
Natural variantiVAR_041526433Q → E in a lung large cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_028990579G → E1 PublicationCorresponds to variant dbSNP:rs3803405EnsemblClinVar.1
Natural variantiVAR_041527602Q → R1 PublicationCorresponds to variant dbSNP:rs55702300EnsemblClinVar.1
Natural variantiVAR_041528663G → D1 PublicationCorresponds to variant dbSNP:rs34409363Ensembl.1
Natural variantiVAR_028991761T → M1 PublicationCorresponds to variant dbSNP:rs16974569EnsemblClinVar.1
Natural variantiVAR_041529836R → L1 PublicationCorresponds to variant dbSNP:rs34906636Ensembl.1
Natural variantiVAR_041530929E → D1 PublicationCorresponds to variant dbSNP:rs56191073EnsemblClinVar.1
Natural variantiVAR_0577431013E → K. Corresponds to variant dbSNP:rs35633849EnsemblClinVar.1
Natural variantiVAR_0577441137A → G. Corresponds to variant dbSNP:rs34173528Ensembl.1
Natural variantiVAR_0791421261 – 1907Missing in CMH27. 1 PublicationAdd BLAST647
Natural variantiVAR_0791431264 – 1907Missing in CMH27. 1 PublicationAdd BLAST644
Natural variantiVAR_0289921299P → L3 PublicationsCorresponds to variant dbSNP:rs306197EnsemblClinVar.1
Natural variantiVAR_0415311364G → E in a metastatic melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0415321412R → W1 PublicationCorresponds to variant dbSNP:rs55752937EnsemblClinVar.1
Natural variantiVAR_0415331557A → D1 PublicationCorresponds to variant dbSNP:rs34775428EnsemblClinVar.1
Natural variantiVAR_0289931622L → P1 PublicationCorresponds to variant dbSNP:rs187316EnsemblClinVar.1
Natural variantiVAR_0791441765 – 1907Missing in CMH27. 1 PublicationAdd BLAST143
Natural variantiVAR_0577451873A → V. Corresponds to variant dbSNP:rs36002219EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY044449 mRNA Translation: AAK95951.1
AB037751 mRNA Translation: BAA92568.1
AC012291 Genomic DNA No translation available.
CCDSiCCDS10333.1
RefSeqiNP_065829.3, NM_020778.4
UniGeneiHs.459183

Genome annotation databases

EnsembliENST00000258888; ENSP00000258888; ENSG00000136383
GeneIDi57538
KEGGihsa:57538
UCSCiuc002ble.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY044449 mRNA Translation: AAK95951.1
AB037751 mRNA Translation: BAA92568.1
AC012291 Genomic DNA No translation available.
CCDSiCCDS10333.1
RefSeqiNP_065829.3, NM_020778.4
UniGeneiHs.459183

3D structure databases

ProteinModelPortaliQ96L96
SMRiQ96L96
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ96L96, 1 interactor
STRINGi9606.ENSP00000258888

PTM databases

iPTMnetiQ96L96
PhosphoSitePlusiQ96L96

Polymorphism and mutation databases

BioMutaiALPK3
DMDMi296434393

Proteomic databases

EPDiQ96L96
PaxDbiQ96L96
PeptideAtlasiQ96L96
PRIDEiQ96L96
ProteomicsDBi77171

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258888; ENSP00000258888; ENSG00000136383
GeneIDi57538
KEGGihsa:57538
UCSCiuc002ble.3 human

Organism-specific databases

CTDi57538
DisGeNETi57538
EuPathDBiHostDB:ENSG00000136383.6
GeneCardsiALPK3
H-InvDBiHIX0012537
HGNCiHGNC:17574 ALPK3
HPAiHPA026558
MIMi617608 gene
618052 phenotype
neXtProtiNX_Q96L96
OpenTargetsiENSG00000136383
PharmGKBiPA134921552
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHFU Eukaryota
ENOG410Y8B3 LUCA
GeneTreeiENSGT00530000063799
HOGENOMiHOG000169775
HOVERGENiHBG074162
InParanoidiQ96L96
KOiK08868
OMAiTQEDRRM
OrthoDBiEOG091G01T6
PhylomeDBiQ96L96
TreeFamiTF332629

Miscellaneous databases

ChiTaRSiALPK3 human
GenomeRNAii57538
PROiPR:Q96L96
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136383 Expressed in 135 organ(s), highest expression level in gastrocnemius
CleanExiHS_ALPK3
HS_MAK
GenevisibleiQ96L96 HS

Family and domain databases

Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR011009 Kinase-like_dom_sf
IPR004166 MHCK_EF2_kinase
PfamiView protein in Pfam
PF02816 Alpha_kinase, 1 hit
PF07679 I-set, 1 hit
SMARTiView protein in SMART
SM00811 Alpha_kinase, 1 hit
SM00409 IG, 2 hits
SM00408 IGc2, 2 hits
SUPFAMiSSF48726 SSF48726, 2 hits
SSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS51158 ALPHA_KINASE, 1 hit
PS50835 IG_LIKE, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiALPK3_HUMAN
AccessioniPrimary (citable) accession number: Q96L96
Secondary accession number(s): Q9P2L6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 121 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
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Main funding by: National Institutes of Health

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