We will be switching to the new UniProt website soon. Please explore and share your feedback.
Take me to the new website.
UniProtKB - Q96L96 (ALPK3_HUMAN)
Protein
Alpha-protein kinase 3
Gene
ALPK3
Organism
Homo sapiens (Human)
Status
Functioni
Involved in cardiomyocyte differentiation.
4 PublicationsCatalytic activityi
GO - Molecular functioni
- ATP binding Source: InterPro
- protein serine/threonine/tyrosine kinase activity Source: RHEA
- protein serine/threonine kinase activity Source: UniProtKB-KW
- protein serine kinase activity Source: RHEA
GO - Biological processi
- cardiac muscle cell development Source: GO_Central
- heart development Source: HGNC-UCL
Keywordsi
Molecular function | Developmental protein, Kinase, Serine/threonine-protein kinase, Transferase |
Enzyme and pathway databases
PathwayCommonsi | Q96L96 |
SignaLinki | Q96L96 |
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 | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17574, ALPK3 |
MIMi | 617608, gene |
neXtProti | NX_Q96L96 |
VEuPathDBi | HostDB:ENSG00000136383 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Nucleus
- nucleus Source: HGNC-UCL
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Cardiomyopathy, familial hypertrophic 27 (CMH27)4 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079142 | 1261 – 1907 | Missing in CMH27. 1 PublicationAdd BLAST | 647 | |
Natural variantiVAR_079143 | 1264 – 1907 | Missing in CMH27. 1 PublicationAdd BLAST | 644 | |
Natural variantiVAR_079144 | 1765 – 1907 | Missing in CMH27. 1 PublicationAdd BLAST | 143 |
Keywords - Diseasei
Cardiomyopathy, Disease variantOrganism-specific databases
DisGeNETi | 57538 |
MalaCardsi | ALPK3 |
MIMi | 618052, phenotype |
PharmGKBi | PA134921552 |
Miscellaneous databases
Pharosi | Q96L96, Tdark |
Genetic variation databases
BioMutai | ALPK3 |
DMDMi | 296434393 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000260031 | 1 – 1907 | Alpha-protein kinase 3Add BLAST | 1907 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 430 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1424 | PhosphoserineBy similarity | 1 | |
Disulfide bondi | 1498 ↔ 1548 | PROSITE-ProRule annotation |
Keywords - PTMi
Disulfide bond, PhosphoproteinProteomic databases
EPDi | Q96L96 |
jPOSTi | Q96L96 |
MassIVEi | Q96L96 |
PaxDbi | Q96L96 |
PeptideAtlasi | Q96L96 |
PRIDEi | Q96L96 |
ProteomicsDBi | 77171 |
PTM databases
iPTMneti | Q96L96 |
PhosphoSitePlusi | Q96L96 |
Expressioni
Gene expression databases
Bgeei | ENSG00000136383, Expressed in gastrocnemius and 156 other tissues |
Genevisiblei | Q96L96, HS |
Organism-specific databases
HPAi | ENSG00000136383, Tissue enhanced (heart muscle, skeletal muscle, tongue) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 121597, 6 interactors |
IntActi | Q96L96, 8 interactors |
STRINGi | 9606.ENSP00000258888 |
Miscellaneous databases
RNActi | Q96L96, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 279 – 370 | Ig-like 1Add BLAST | 92 | |
Domaini | 1476 – 1564 | Ig-like 2Add BLAST | 89 | |
Domaini | 1592 – 1827 | Alpha-type protein kinasePROSITE-ProRule annotationAdd BLAST | 236 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 65 – 85 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 110 – 235 | DisorderedSequence analysisAdd BLAST | 126 | |
Regioni | 413 – 446 | DisorderedSequence analysisAdd BLAST | 34 | |
Regioni | 510 – 951 | DisorderedSequence analysisAdd BLAST | 442 | |
Regioni | 994 – 1047 | DisorderedSequence analysisAdd BLAST | 54 | |
Regioni | 1121 – 1154 | DisorderedSequence analysisAdd BLAST | 34 | |
Regioni | 1284 – 1347 | DisorderedSequence analysisAdd BLAST | 64 | |
Regioni | 1375 – 1428 | DisorderedSequence analysisAdd BLAST | 54 | |
Regioni | 1830 – 1907 | DisorderedSequence analysisAdd BLAST | 78 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 413 – 428 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 510 – 540 | Basic and acidic residuesSequence analysisAdd BLAST | 31 | |
Compositional biasi | 541 – 567 | Polar residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 696 – 710 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 754 – 788 | Polar residuesSequence analysisAdd BLAST | 35 | |
Compositional biasi | 796 – 813 | Polar residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 832 – 856 | Basic and acidic residuesSequence analysisAdd BLAST | 25 | |
Compositional biasi | 857 – 878 | Polar residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 879 – 905 | Basic and acidic residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 907 – 935 | Polar residuesSequence analysisAdd BLAST | 29 | |
Compositional biasi | 1121 – 1136 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 1846 – 1900 | Polar residuesSequence analysisAdd BLAST | 55 |
Sequence similaritiesi
Keywords - Domaini
Immunoglobulin domain, RepeatPhylogenomic databases
eggNOGi | ENOG502QPP5, Eukaryota |
HOGENOMi | CLU_003270_1_0_1 |
InParanoidi | Q96L96 |
OrthoDBi | 32441at2759 |
PhylomeDBi | Q96L96 |
TreeFami | TF332629 |
Family and domain databases
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF02816, Alpha_kinase, 1 hit PF07679, I-set, 1 hit |
SMARTi | View protein in SMART SM00811, Alpha_kinase, 1 hit SM00409, IG, 2 hits SM00408, IGc2, 2 hits |
SUPFAMi | SSF48726, SSF48726, 2 hits SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS51158, ALPHA_KINASE, 1 hit PS50835, IG_LIKE, 2 hits |
i Sequence
Sequence statusi: Complete.
Q96L96-1 [UniParc]FASTAAdd to basket
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 210 | S → T in AAK95951 (PubMed:10021370).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_041524 | 336 | R → H1 PublicationCorresponds to variant dbSNP:rs34407151Ensembl. | 1 | |
Natural variantiVAR_041525 | 338 | T → I1 PublicationCorresponds to variant dbSNP:rs56015306Ensembl. | 1 | |
Natural variantiVAR_028989 | 414 | T → S1 PublicationCorresponds to variant dbSNP:rs3803403Ensembl. | 1 | |
Natural variantiVAR_041526 | 433 | Q → E in a lung large cell carcinoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_028990 | 579 | G → E1 PublicationCorresponds to variant dbSNP:rs3803405Ensembl. | 1 | |
Natural variantiVAR_041527 | 602 | Q → R1 PublicationCorresponds to variant dbSNP:rs55702300Ensembl. | 1 | |
Natural variantiVAR_041528 | 663 | G → D1 PublicationCorresponds to variant dbSNP:rs34409363Ensembl. | 1 | |
Natural variantiVAR_028991 | 761 | T → M1 PublicationCorresponds to variant dbSNP:rs16974569Ensembl. | 1 | |
Natural variantiVAR_041529 | 836 | R → L1 PublicationCorresponds to variant dbSNP:rs34906636Ensembl. | 1 | |
Natural variantiVAR_041530 | 929 | E → D1 PublicationCorresponds to variant dbSNP:rs56191073Ensembl. | 1 | |
Natural variantiVAR_057743 | 1013 | E → K. Corresponds to variant dbSNP:rs35633849Ensembl. | 1 | |
Natural variantiVAR_057744 | 1137 | A → G. Corresponds to variant dbSNP:rs34173528Ensembl. | 1 | |
Natural variantiVAR_079142 | 1261 – 1907 | Missing in CMH27. 1 PublicationAdd BLAST | 647 | |
Natural variantiVAR_079143 | 1264 – 1907 | Missing in CMH27. 1 PublicationAdd BLAST | 644 | |
Natural variantiVAR_028992 | 1299 | P → L3 PublicationsCorresponds to variant dbSNP:rs306197Ensembl. | 1 | |
Natural variantiVAR_041531 | 1364 | G → E in a metastatic melanoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_041532 | 1412 | R → W1 PublicationCorresponds to variant dbSNP:rs55752937Ensembl. | 1 | |
Natural variantiVAR_041533 | 1557 | A → D1 PublicationCorresponds to variant dbSNP:rs34775428Ensembl. | 1 | |
Natural variantiVAR_028993 | 1622 | L → P1 PublicationCorresponds to variant dbSNP:rs187316Ensembl. | 1 | |
Natural variantiVAR_079144 | 1765 – 1907 | Missing in CMH27. 1 PublicationAdd BLAST | 143 | |
Natural variantiVAR_057745 | 1873 | A → V. Corresponds to variant dbSNP:rs36002219Ensembl. | 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. |
RefSeqi | NP_065829.3, NM_020778.4 |
Genome annotation databases
Ensembli | ENST00000258888; ENSP00000258888; ENSG00000136383 |
GeneIDi | 57538 |
KEGGi | hsa:57538 |
MANE-Selecti | ENST00000258888.6; ENSP00000258888.6; NM_020778.5; NP_065829.4 |
UCSCi | uc002ble.3, human |
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. |
RefSeqi | NP_065829.3, NM_020778.4 |
3D structure databases
SMRi | Q96L96 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121597, 6 interactors |
IntActi | Q96L96, 8 interactors |
STRINGi | 9606.ENSP00000258888 |
PTM databases
iPTMneti | Q96L96 |
PhosphoSitePlusi | Q96L96 |
Genetic variation databases
BioMutai | ALPK3 |
DMDMi | 296434393 |
Proteomic databases
EPDi | Q96L96 |
jPOSTi | Q96L96 |
MassIVEi | Q96L96 |
PaxDbi | Q96L96 |
PeptideAtlasi | Q96L96 |
PRIDEi | Q96L96 |
ProteomicsDBi | 77171 |
Protocols and materials databases
Antibodypediai | 15507, 57 antibodies from 20 providers |
DNASUi | 57538 |
Genome annotation databases
Ensembli | ENST00000258888; ENSP00000258888; ENSG00000136383 |
GeneIDi | 57538 |
KEGGi | hsa:57538 |
MANE-Selecti | ENST00000258888.6; ENSP00000258888.6; NM_020778.5; NP_065829.4 |
UCSCi | uc002ble.3, human |
Organism-specific databases
CTDi | 57538 |
DisGeNETi | 57538 |
GeneCardsi | ALPK3 |
HGNCi | HGNC:17574, ALPK3 |
HPAi | ENSG00000136383, Tissue enhanced (heart muscle, skeletal muscle, tongue) |
MalaCardsi | ALPK3 |
MIMi | 617608, gene 618052, phenotype |
neXtProti | NX_Q96L96 |
PharmGKBi | PA134921552 |
VEuPathDBi | HostDB:ENSG00000136383 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPP5, Eukaryota |
HOGENOMi | CLU_003270_1_0_1 |
InParanoidi | Q96L96 |
OrthoDBi | 32441at2759 |
PhylomeDBi | Q96L96 |
TreeFami | TF332629 |
Enzyme and pathway databases
PathwayCommonsi | Q96L96 |
SignaLinki | Q96L96 |
Miscellaneous databases
BioGRID-ORCSi | 57538, 10 hits in 1045 CRISPR screens |
ChiTaRSi | ALPK3, human |
GenomeRNAii | 57538 |
Pharosi | Q96L96, Tdark |
PROi | PR:Q96L96 |
RNActi | Q96L96, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136383, Expressed in gastrocnemius and 156 other tissues |
Genevisiblei | Q96L96, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF02816, Alpha_kinase, 1 hit PF07679, I-set, 1 hit |
SMARTi | View protein in SMART SM00811, Alpha_kinase, 1 hit SM00409, IG, 2 hits SM00408, IGc2, 2 hits |
SUPFAMi | SSF48726, SSF48726, 2 hits SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS51158, ALPHA_KINASE, 1 hit PS50835, IG_LIKE, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | ALPK3_HUMAN | |
Accessioni | Q96L96Primary (citable) accession number: Q96L96 Secondary accession number(s): Q9P2L6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 28, 2006 |
Last sequence update: | May 18, 2010 | |
Last modified: | February 23, 2022 | |
This is version 140 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human and mouse protein kinases
Human and mouse protein kinases: classification and index - Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families