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UniProtKB - Q15772 (SPEG_HUMAN)
Protein
Striated muscle preferentially expressed protein kinase
Gene
SPEG
Organism
Homo sapiens (Human)
Status
Functioni
Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.
Miscellaneous
Expression is under the tight control of the locus control region (LCRs).
Catalytic activityi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 1630 | ATPPROSITE-ProRule annotation | 1 | |
Active sitei | 1719 | Proton acceptorBy similarity | 1 | |
Binding sitei | 2995 | ATPPROSITE-ProRule annotation | 1 | |
Active sitei | 3085 | Proton acceptorBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 1607 – 1615 | ATPPROSITE-ProRule annotation | 9 | |
Nucleotide bindingi | 2972 – 2980 | ATPPROSITE-ProRule annotation | 9 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- protein kinase activity Source: GO_Central
- 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
- muscle cell differentiation Source: GO_Central
- muscle organ development Source: ProtInc
- negative regulation of cell population proliferation Source: ProtInc
Keywordsi
Molecular function | Kinase, Serine/threonine-protein kinase, Transferase |
Biological process | Differentiation |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q15772 |
SignaLinki | Q15772 |
Names & Taxonomyi
Protein namesi | Recommended name: Striated muscle preferentially expressed protein kinase (EC:2.7.11.1)Alternative name(s): Aortic preferentially expressed protein 1 Short name: APEG-1 |
Gene namesi | Name:SPEG Synonyms:APEG1, KIAA1297 |
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:16901, SPEG |
MIMi | 615950, gene |
neXtProti | NX_Q15772 |
VEuPathDBi | HostDB:ENSG00000072195 |
Pathology & Biotechi
Involvement in diseasei
Myopathy, centronuclear, 5 (CNM5)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of centronuclear myopathy, a congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. CNM5 features include severe neonatal hypotonia with respiratory insufficiency, difficulty feeding, and delayed motor development. Some patients die in infancy, and some develop dilated cardiomyopathy.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071808 | 2757 | G → V in CNM5. 1 PublicationCorresponds to variant dbSNP:rs587777676EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 10290 |
MalaCardsi | SPEG |
MIMi | 615959, phenotype |
OpenTargetsi | ENSG00000072195 |
Orphaneti | 169186, Autosomal recessive centronuclear myopathy |
PharmGKBi | PA142672598 |
Miscellaneous databases
Pharosi | Q15772, Tbio |
Genetic variation databases
BioMutai | SPEG |
DMDMi | 218512143 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000072666 | 1 – 3267 | Striated muscle preferentially expressed protein kinaseAdd BLAST | 3267 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 139 | PhosphoserineBy similarity | 1 | |
Modified residuei | 364 | PhosphoserineBy similarity | 1 | |
Modified residuei | 371 | PhosphoserineBy similarity | 1 | |
Modified residuei | 375 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 378 | PhosphoserineBy similarity | 1 | |
Modified residuei | 381 | PhosphoserineBy similarity | 1 | |
Modified residuei | 419 | PhosphoserineBy similarity | 1 | |
Modified residuei | 449 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 453 | PhosphoserineBy similarity | 1 | |
Modified residuei | 488 | PhosphoserineCombined sources | 1 | |
Modified residuei | 506 | PhosphoserineBy similarity | 1 | |
Modified residuei | 526 | PhosphoserineBy similarity | 1 | |
Modified residuei | 549 | PhosphoserineBy similarity | 1 | |
Disulfide bondi | 989 ↔ 1041 | PROSITE-ProRule annotation | ||
Modified residuei | 1128 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1172 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1988 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2014 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2015 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2037 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2055 | Asymmetric dimethylarginine; alternateBy similarity | 1 | |
Modified residuei | 2055 | Omega-N-methylarginine; alternateBy similarity | 1 | |
Modified residuei | 2109 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2130 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2139 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 2177 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2376 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2380 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 2410 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2414 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2438 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2439 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2444 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2448 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2521 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2524 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2559 | PhosphoserineBy similarity | 1 | |
Disulfide bondi | 2605 ↔ 2657 | PROSITE-ProRule annotation | ||
Modified residuei | 2771 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 2774 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2949 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
May be autophosphorylated.
Keywords - PTMi
Disulfide bond, Methylation, PhosphoproteinProteomic databases
EPDi | Q15772 |
jPOSTi | Q15772 |
MassIVEi | Q15772 |
MaxQBi | Q15772 |
PaxDbi | Q15772 |
PeptideAtlasi | Q15772 |
PRIDEi | Q15772 |
ProteomicsDBi | 60751 [Q15772-5] 60752 [Q15772-1] 60753 [Q15772-3] 60754 [Q15772-4] |
PTM databases
GlyGeni | Q15772, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q15772 |
PhosphoSitePlusi | Q15772 |
Expressioni
Tissue specificityi
Isoform 1 is preferentially expressed in striated muscle. Non-kinase form such as isoform 3 is predominantly expressed in the aorta. Isoform 3 appears to be expressed only in highly differentiated ASMC in normal vessel walls and down-regulated in dedifferentiated ASMC in vivo. In response to vascular injuries ASMC dedifferentiate and change from a quiescent and contractile phenotype to a proliferative and synthetic phenotype. This proliferation of vascular smooth muscle cells is one of the most prominent features of atherosclerosis.2 Publications
Inductioni
Isoform 3 is quickly down-regulated in response to vascular injury, when ASMC cells change from a quiescent to a proliferative phenotype.1 Publication
Gene expression databases
Bgeei | ENSG00000072195, Expressed in esophagus and 216 other tissues |
ExpressionAtlasi | Q15772, baseline and differential |
Genevisiblei | Q15772, HS |
Organism-specific databases
HPAi | ENSG00000072195, Tissue enhanced (intestine, skeletal muscle) |
Interactioni
Subunit structurei
Interacts with MTM1. Isoform 3 is found as a monomer or homodimer.
2 PublicationsBinary interactionsi
Q15772
With | #Exp. | IntAct |
---|---|---|
PRMT1 [Q99873] | 3 | EBI-1384196,EBI-78738 |
Isoform 3 [Q15772-4]
With | #Exp. | IntAct |
---|---|---|
HSF2BP [O75031] | 3 | EBI-12175897,EBI-7116203 |
MEOX2 [Q6FHY5] | 3 | EBI-12175897,EBI-16439278 |
PICK1 [Q9NRD5] | 3 | EBI-12175897,EBI-79165 |
PRMT1 - isoform 3 [Q99873-3] | 3 | EBI-12175897,EBI-17165527 |
Protein-protein interaction databases
BioGRIDi | 115579, 13 interactors |
IntActi | Q15772, 5 interactors |
STRINGi | 9606.ENSP00000311684 |
Miscellaneous databases
RNActi | Q15772, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q15772 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q15772 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 43 – 124 | Ig-like 1Add BLAST | 82 | |
Domaini | 722 – 810 | Ig-like 2Add BLAST | 89 | |
Domaini | 869 – 958 | Ig-like 3Add BLAST | 90 | |
Domaini | 963 – 1057 | Ig-like 4Add BLAST | 95 | |
Domaini | 1064 – 1152 | Ig-like 5Add BLAST | 89 | |
Domaini | 1188 – 1278 | Ig-like 6Add BLAST | 91 | |
Domaini | 1285 – 1382 | Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST | 98 | |
Domaini | 1384 – 1480 | Ig-like 7Add BLAST | 97 | |
Domaini | 1485 – 1573 | Ig-like 8Add BLAST | 89 | |
Domaini | 1601 – 1854 | Protein kinase 1PROSITE-ProRule annotationAdd BLAST | 254 | |
Domaini | 2583 – 2673 | Ig-like 9Add BLAST | 91 | |
Domaini | 2680 – 2774 | Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST | 95 | |
Domaini | 2966 – 3218 | Protein kinase 2PROSITE-ProRule annotationAdd BLAST | 253 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 33 | DisorderedSequence analysisAdd BLAST | 33 | |
Regioni | 132 – 227 | DisorderedSequence analysisAdd BLAST | 96 | |
Regioni | 276 – 714 | DisorderedSequence analysisAdd BLAST | 439 | |
Regioni | 812 – 872 | DisorderedSequence analysisAdd BLAST | 61 | |
Regioni | 1157 – 1180 | DisorderedSequence analysisAdd BLAST | 24 | |
Regioni | 1906 – 2060 | DisorderedSequence analysisAdd BLAST | 155 | |
Regioni | 2074 – 2239 | DisorderedSequence analysisAdd BLAST | 166 | |
Regioni | 2253 – 2325 | DisorderedSequence analysisAdd BLAST | 73 | |
Regioni | 2339 – 2399 | DisorderedSequence analysisAdd BLAST | 61 | |
Regioni | 2411 – 2452 | DisorderedSequence analysisAdd BLAST | 42 | |
Regioni | 2466 – 2564 | DisorderedSequence analysisAdd BLAST | 99 | |
Regioni | 2771 – 2896 | DisorderedSequence analysisAdd BLAST | 126 | |
Regioni | 2909 – 2966 | DisorderedSequence analysisAdd BLAST | 58 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 157 – 199 | Polar residuesSequence analysisAdd BLAST | 43 | |
Compositional biasi | 295 – 331 | Pro residuesSequence analysisAdd BLAST | 37 | |
Compositional biasi | 340 – 359 | Basic and acidic residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 361 – 381 | Polar residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 402 – 418 | Basic and acidic residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 471 – 487 | Basic and acidic residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 495 – 516 | Basic and acidic residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 538 – 556 | Polar residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 585 – 599 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 661 – 683 | Basic and acidic residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 812 – 828 | Polar residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 848 – 868 | Polar residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 2164 – 2178 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 2199 – 2237 | Pro residuesSequence analysisAdd BLAST | 39 | |
Compositional biasi | 2353 – 2371 | Basic and acidic residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 2466 – 2481 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 2512 – 2540 | Polar residuesSequence analysisAdd BLAST | 29 | |
Compositional biasi | 2798 – 2828 | Pro residuesSequence analysisAdd BLAST | 31 | |
Compositional biasi | 2882 – 2896 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 2909 – 2927 | Pro residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 2928 – 2962 | Polar residuesSequence analysisAdd BLAST | 35 |
Sequence similaritiesi
Keywords - Domaini
Immunoglobulin domain, RepeatPhylogenomic databases
eggNOGi | KOG0032, Eukaryota KOG0613, Eukaryota |
GeneTreei | ENSGT00940000161126 |
HOGENOMi | CLU_000381_0_0_1 |
InParanoidi | Q15772 |
OrthoDBi | 7796at2759 |
PhylomeDBi | Q15772 |
TreeFami | TF331962 |
Family and domain databases
CDDi | cd00063, FN3, 2 hits |
Gene3Di | 2.60.40.10, 11 hits |
InterProi | View protein in InterPro IPR003961, FN3_dom IPR036116, FN3_sf 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 IPR000719, Prot_kinase_dom IPR017441, Protein_kinase_ATP_BS IPR015726, Ser/Thr_kin_striated-sp IPR008271, Ser/Thr_kinase_AS |
PANTHERi | PTHR47633:SF3, PTHR47633:SF3, 3 hits |
Pfami | View protein in Pfam PF07679, I-set, 9 hits PF00069, Pkinase, 2 hits |
SMARTi | View protein in SMART SM00060, FN3, 2 hits SM00409, IG, 9 hits SM00408, IGc2, 9 hits SM00220, S_TKc, 2 hits |
SUPFAMi | SSF48726, SSF48726, 9 hits SSF49265, SSF49265, 1 hit SSF56112, SSF56112, 2 hits |
PROSITEi | View protein in PROSITE PS50853, FN3, 2 hits PS50835, IG_LIKE, 8 hits PS00107, PROTEIN_KINASE_ATP, 1 hit PS50011, PROTEIN_KINASE_DOM, 2 hits PS00108, PROTEIN_KINASE_ST, 2 hits |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative promoter usage and alternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
Isoform 4 (identifier: Q15772-5) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MQKARGTRGE DAGTRAPPSP GVPPKRAKVG AGGGAPVAVA GAPVFLRPLK
60 70 80 90 100
NAAVCAGSDV RLRVVVSGTP QPSLRWFRDG QLLPAPAPEP SCLWLRRCGA
110 120 130 140 150
QDAGVYSCMA QNERGRASCE AVLTVLEVGD SETAEDDISD VQGTQRLELR
160 170 180 190 200
DDGAFSTPTG GSDTLVGTSL DTPPTSVTGT SEEQVSWWGS GQTVLEQEAG
210 220 230 240 250
SGGGTRRLPG SPRQAQATGA GPRHLGVEPL VRASRANLVG ASWGSEDSLS
260 270 280 290 300
VASDLYGSAF SLYRGRALSI HVSVPQSGLR REEPDLQPQL ASEAPRRPAQ
310 320 330 340 350
PPPSKSALLP PPSPRVGKRS PPGPPAQPAA TPTSPHRRTQ EPVLPEDTTT
360 370 380 390 400
EEKRGKKSKS SGPSLAGTAE SRPQTPLSEA SGRLSALGRS PRLVRAGSRI
410 420 430 440 450
LDKLQFFEER RRSLERSDSP PAPLRPWVPL RKARSLEQPK SERGAPWGTP
460 470 480 490 500
GASQEELRAP GSVAERRRLF QQKAASLDER TRQRSPASDL ELRFAQELGR
510 520 530 540 550
IRRSTSREEL VRSHESLRAT LQRAPSPREP GEPPLFSRPS TPKTSRAVSP
560 570 580 590 600
AAAQPPSPSS AEKPGDEPGR PRSRGPAGRT EPGEGPQQEV RRRDQFPLTR
610 620 630 640 650
SRAIQECRSP VPPPAADPPE ARTKAPPGRK REPPAQAVRF LPWATPGLEG
660 670 680 690 700
AAVPQTLEKN RAGPEAEKRL RRGPEEDGPW GPWDRRGARS QGKGRRARPT
710 720 730 740 750
SPELESSDDS YVSAGEEPLE APVFEIPLQN VVVAPGADVL LKCIITANPP
760 770 780 790 800
PQVSWHKDGS ALRSEGRLLL RAEGERHTLL LREARAADAG SYMATATNEL
810 820 830 840 850
GQATCAASLT VRPGGSTSPF SSPITSDEEY LSPPEEFPEP GETWPRTPTM
860 870 880 890 900
KPSPSQNRRS SDTGSKAPPT FKVSLMDQSV REGQDVIMSI RVQGEPKPVV
910 920 930 940 950
SWLRNRQPVR PDQRRFAEEA EGGLCRLRIL AAERGDAGFY TCKAVNEYGA
960 970 980 990 1000
RQCEARLEVR AHPESRSLAV LAPLQDVDVG AGEMALFECL VAGPTDVEVD
1010 1020 1030 1040 1050
WLCRGRLLQP ALLKCKMHFD GRKCKLLLTS VHEDDSGVYT CKLSTAKDEL
1060 1070 1080 1090 1100
TCSARLTVRP SLAPLFTRLL EDVEVLEGRA ARFDCKISGT PPPVVTWTHF
1110 1120 1130 1140 1150
GCPMEESENL RLRQDGGLHS LHIAHVGSED EGLYAVSAVN THGQAHCSAQ
1160 1170 1180 1190 1200
LYVEEPRTAA SGPSSKLEKM PSIPEEPEQG ELERLSIPDF LRPLQDLEVG
1210 1220 1230 1240 1250
LAKEAMLECQ VTGLPYPTIS WFHNGHRIQS SDDRRMTQYR DVHRLVFPAV
1260 1270 1280 1290 1300
GPQHAGVYKS VIANKLGKAA CYAHLYVTDV VPGPPDGAPQ VVAVTGRMVT
1310 1320 1330 1340 1350
LTWNPPRSLD MAIDPDSLTY TVQHQVLGSD QWTALVTGLR EPGWAATGLR
1360 1370 1380 1390 1400
KGVQHIFRVL STTVKSSSKP SPPSEPVQLL EHGPTLEEAP AMLDKPDIVY
1410 1420 1430 1440 1450
VVEGQPASVT VTFNHVEAQV VWRSCRGALL EARAGVYELS QPDDDQYCLR
1460 1470 1480 1490 1500
ICRVSRRDMG ALTCTARNRH GTQTCSVTLE LAEAPRFESI MEDVEVGAGE
1510 1520 1530 1540 1550
TARFAVVVEG KPLPDIMWYK DEVLLTESSH VSFVYEENEC SLVVLSTGAQ
1560 1570 1580 1590 1600
DGGVYTCTAQ NLAGEVSCKA ELAVHSAQTA MEVEGVGEDE DHRGRRLSDF
1610 1620 1630 1640 1650
YDIHQEIGRG AFSYLRRIVE RSSGLEFAAK FIPSQAKPKA SARREARLLA
1660 1670 1680 1690 1700
RLQHDCVLYF HEAFERRRGL VIVTELCTEE LLERIARKPT VCESEIRAYM
1710 1720 1730 1740 1750
RQVLEGIHYL HQSHVLHLDV KPENLLVWDG AAGEQQVRIC DFGNAQELTP
1760 1770 1780 1790 1800
GEPQYCQYGT PEFVAPEIVN QSPVSGVTDI WPVGVVAFLC LTGISPFVGE
1810 1820 1830 1840 1850
NDRTTLMNIR NYNVAFEETT FLSLSREARG FLIKVLVQDR LRPTAEETLE
1860 1870 1880 1890 1900
HPWFKTQAKG AEVSTDHLKL FLSRRRWQRS QISYKCHLVL RPIPELLRAP
1910 1920 1930 1940 1950
PERVWVTMPR RPPPSGGLSS SSDSEEEELE ELPSVPRPLQ PEFSGSRVSL
1960 1970 1980 1990 2000
TDIPTEDEAL GTPETGAATP MDWQEQGRAP SQDQEAPSPE ALPSPGQEPA
2010 2020 2030 2040 2050
AGASPRRGEL RRGSSAESAL PRAGPRELGR GLHKAASVEL PQRRSPSPGA
2060 2070 2080 2090 2100
TRLARGGLGE GEYAQRLQAL RQRLLRGGPE DGKVSGLRGP LLESLGGRAR
2110 2120 2130 2140 2150
DPRMARAASS EAAPHHQPPL ENRGLQKSSS FSQGEAEPRG RHRRAGAPLE
2160 2170 2180 2190 2200
IPVARLGARR LQESPSLSAL SEAQPSSPAR PSAPKPSTPK SAEPSATTPS
2210 2220 2230 2240 2250
DAPQPPAPQP AQDKAPEPRP EPVRASKPAP PPQALQTLAL PLTPYAQIIQ
2260 2270 2280 2290 2300
SLQLSGHAQG PSQGPAAPPS EPKPHAAVFA RVASPPPGAP EKRVPSAGGP
2310 2320 2330 2340 2350
PVLAEKARVP TVPPRPGSSL SSSIENLESE AVFEAKFKRS RESPLSLGLR
2360 2370 2380 2390 2400
LLSRSRSEER GPFRGAEEED GIYRPSPAGT PLELVRRPER SRSVQDLRAV
2410 2420 2430 2440 2450
GEPGLVRRLS LSLSQRLRRT PPAQRHPAWE ARGGDGESSE GGSSARGSPV
2460 2470 2480 2490 2500
LAMRRRLSFT LERLSSRLQR SGSSEDSGGA SGRSTPLFGR LRRATSEGES
2510 2520 2530 2540 2550
LRRLGLPHNQ LAAQAGATTP SAESLGSEAS ATSGSSAPGE SRSRLRWGFS
2560 2570 2580 2590 2600
RPRKDKGLSP PNLSASVQEE LGHQYVRSES DFPPVFHIKL KDQVLLEGEA
2610 2620 2630 2640 2650
ATLLCLPAAC PAPHISWMKD KKSLRSEPSV IIVSCKDGRQ LLSIPRAGKR
2660 2670 2680 2690 2700
HAGLYECSAT NVLGSITSSC TVAVARVPGK LAPPEVPQTY QDTALVLWKP
2710 2720 2730 2740 2750
GDSRAPCTYT LERRVDGESV WHPVSSGIPD CYYNVTHLPV GVTVRFRVAC
2760 2770 2780 2790 2800
ANRAGQGPFS NSSEKVFVRG TQDSSAVPSA AHQEAPVTSR PARARPPDSP
2810 2820 2830 2840 2850
TSLAPPLAPA APTPPSVTVS PSSPPTPPSQ ALSSLKAVGP PPQTPPRRHR
2860 2870 2880 2890 2900
GLQAARPAEP TLPSTHVTPS EPKPFVLDTG TPIPASTPQG VKPVSSSTPV
2910 2920 2930 2940 2950
YVVTSFVSAP PAPEPPAPEP PPEPTKVTVQ SLSPAKEVVS SPGSSPRSSP
2960 2970 2980 2990 3000
RPEGTTLRQG PPQKPYTFLE EKARGRFGVV RACRENATGR TFVAKIVPYA
3010 3020 3030 3040 3050
AEGKRRVLQE YEVLRTLHHE RIMSLHEAYI TPRYLVLIAE SCGNRELLCG
3060 3070 3080 3090 3100
LSDRFRYSED DVATYMVQLL QGLDYLHGHH VLHLDIKPDN LLLAPDNALK
3110 3120 3130 3140 3150
IVDFGSAQPY NPQALRPLGH RTGTLEFMAP EMVKGEPIGS ATDIWGAGVL
3160 3170 3180 3190 3200
TYIMLSGRSP FYEPDPQETE ARIVGGRFDA FQLYPNTSQS ATLFLRKVLS
3210 3220 3230 3240 3250
VHPWSRPSLQ DCLAHPWLQD AYLMKLRRQT LTFTTNRLKE FLGEQRRRRA
3260
EAATRHKVLL RSYPGGP
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB9ZVR7 | B9ZVR7_HUMAN | Striated muscle preferentially-expr... | SPEG | 858 | Annotation score: | ||
C9J8D8 | C9J8D8_HUMAN | Striated muscle preferentially-expr... | SPEG | 299 | Annotation score: | ||
C9JWU5 | C9JWU5_HUMAN | Striated muscle preferentially-expr... | SPEG | 187 | Annotation score: | ||
H7C3Y5 | H7C3Y5_HUMAN | Striated muscle preferentially-expr... | SPEG | 184 | Annotation score: | ||
G5E9J7 | G5E9J7_HUMAN | Aortic preferentially expressed gen... | SPEG APEG1, hCG_2012857 | 53 | Annotation score: | ||
F8WCA7 | F8WCA7_HUMAN | Striated muscle preferentially-expr... | SPEG | 84 | Annotation score: | ||
H0Y3W0 | H0Y3W0_HUMAN | Striated muscle preferentially-expr... | SPEG | 43 | Annotation score: |
Sequence cautioni
The sequence AAY15052 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence ABD61734 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 71 | Q → H in ABD61734 (PubMed:16545539).Curated | 1 | |
Sequence conflicti | 73 | S → I in ABD61734 (PubMed:16545539).Curated | 1 | |
Sequence conflicti | 2047 | S → G in AAT80901 (PubMed:15185077).Curated | 1 | |
Sequence conflicti | 2047 | S → G in BAA92535 (PubMed:10718198).Curated | 1 | |
Sequence conflicti | 3005 | R → P in AAT80901 (PubMed:15185077).Curated | 1 | |
Sequence conflicti | 3005 | R → P in BAA92535 (PubMed:10718198).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_041101 | 206 | R → H1 PublicationCorresponds to variant dbSNP:rs55821435Ensembl. | 1 | |
Natural variantiVAR_041102 | 934 | R → C1 PublicationCorresponds to variant dbSNP:rs34398769Ensembl. | 1 | |
Natural variantiVAR_041103 | 966 | R → Q1 PublicationCorresponds to variant dbSNP:rs34861443Ensembl. | 1 | |
Natural variantiVAR_041104 | 1103 | P → L1 PublicationCorresponds to variant dbSNP:rs56334571EnsemblClinVar. | 1 | |
Natural variantiVAR_041105 | 1135 | A → V1 PublicationCorresponds to variant dbSNP:rs55670811Ensembl. | 1 | |
Natural variantiVAR_041106 | 1178 | E → D in a gastric adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs757589345Ensembl. | 1 | |
Natural variantiVAR_041107 | 1234 | R → W1 PublicationCorresponds to variant dbSNP:rs55916864EnsemblClinVar. | 1 | |
Natural variantiVAR_041108 | 1340 | R → Q1 PublicationCorresponds to variant dbSNP:rs34994343EnsemblClinVar. | 1 | |
Natural variantiVAR_041109 | 1621 | R → C1 PublicationCorresponds to variant dbSNP:rs55646900Ensembl. | 1 | |
Natural variantiVAR_041110 | 1903 | R → W in an ovarian mucinous carcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs762000831Ensembl. | 1 | |
Natural variantiVAR_059769 | 2189 | P → L. Corresponds to variant dbSNP:rs10755037EnsemblClinVar. | 1 | |
Natural variantiVAR_041111 | 2687 | P → T3 PublicationsCorresponds to variant dbSNP:rs13026308Ensembl. | 1 | |
Natural variantiVAR_041112 | 2742 | V → M in a gastric adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs566841339Ensembl. | 1 | |
Natural variantiVAR_071808 | 2757 | G → V in CNM5. 1 PublicationCorresponds to variant dbSNP:rs587777676EnsemblClinVar. | 1 | |
Natural variantiVAR_041113 | 3079 | H → R1 PublicationCorresponds to variant dbSNP:rs12464085EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_018258 | 1 – 849 | Missing in isoform 3. 3 PublicationsAdd BLAST | 849 | |
Alternative sequenceiVSP_018259 | 1 – 792 | Missing in isoform 2. 1 PublicationAdd BLAST | 792 | |
Alternative sequenceiVSP_018261 | 961 – 962 | AH → GE in isoform 2 and isoform 3. 4 Publications | 2 | |
Alternative sequenceiVSP_018262 | 963 – 3267 | Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST | 2305 | |
Alternative sequenceiVSP_036071 | 3209 – 3267 | LQDCL…YPGGP → SCLSVCHKEIKMASS in isoform 1. 3 PublicationsAdd BLAST | 59 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U57099 mRNA Translation: AAC50599.1 AK126500 mRNA Translation: BAC86568.1 AK289531 mRNA Translation: BAF82220.1 CR542201 mRNA Translation: CAG46998.1 AC053503 Genomic DNA Translation: AAY15052.1 Sequence problems. CH471063 Genomic DNA Translation: EAW70747.1 BC006346 mRNA Translation: AAH06346.1 DQ395348 mRNA Translation: ABD61734.1 Frameshift. AY603755 mRNA Translation: AAT80901.1 AB037718 mRNA Translation: BAA92535.1 |
CCDSi | CCDS42824.1 [Q15772-5] CCDS54432.1 [Q15772-4] |
RefSeqi | NP_001166947.1, NM_001173476.1 [Q15772-4] NP_005867.3, NM_005876.4 [Q15772-5] XP_016858651.1, XM_017003162.1 [Q15772-3] |
Genome annotation databases
Ensembli | ENST00000312358; ENSP00000311684; ENSG00000072195 ENST00000396686; ENSP00000379917; ENSG00000072195 [Q15772-4] ENST00000396688; ENSP00000379919; ENSG00000072195 [Q15772-4] ENST00000396689; ENSP00000379920; ENSG00000072195 [Q15772-4] |
GeneIDi | 10290 |
KEGGi | hsa:10290 |
MANE-Selecti | ENST00000312358.12; ENSP00000311684.7; NM_005876.5; NP_005867.3 |
UCSCi | uc002vlq.4, human [Q15772-5] |
Keywords - Coding sequence diversityi
Alternative promoter usage, Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U57099 mRNA Translation: AAC50599.1 AK126500 mRNA Translation: BAC86568.1 AK289531 mRNA Translation: BAF82220.1 CR542201 mRNA Translation: CAG46998.1 AC053503 Genomic DNA Translation: AAY15052.1 Sequence problems. CH471063 Genomic DNA Translation: EAW70747.1 BC006346 mRNA Translation: AAH06346.1 DQ395348 mRNA Translation: ABD61734.1 Frameshift. AY603755 mRNA Translation: AAT80901.1 AB037718 mRNA Translation: BAA92535.1 |
CCDSi | CCDS42824.1 [Q15772-5] CCDS54432.1 [Q15772-4] |
RefSeqi | NP_001166947.1, NM_001173476.1 [Q15772-4] NP_005867.3, NM_005876.4 [Q15772-5] XP_016858651.1, XM_017003162.1 [Q15772-3] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1U2H | X-ray | 0.96 | A | 864-960 | [»] | |
SMRi | Q15772 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115579, 13 interactors |
IntActi | Q15772, 5 interactors |
STRINGi | 9606.ENSP00000311684 |
PTM databases
GlyGeni | Q15772, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q15772 |
PhosphoSitePlusi | Q15772 |
Genetic variation databases
BioMutai | SPEG |
DMDMi | 218512143 |
Proteomic databases
EPDi | Q15772 |
jPOSTi | Q15772 |
MassIVEi | Q15772 |
MaxQBi | Q15772 |
PaxDbi | Q15772 |
PeptideAtlasi | Q15772 |
PRIDEi | Q15772 |
ProteomicsDBi | 60751 [Q15772-5] 60752 [Q15772-1] 60753 [Q15772-3] 60754 [Q15772-4] |
Protocols and materials databases
Antibodypediai | 11575, 78 antibodies from 22 providers |
DNASUi | 10290 |
Genome annotation databases
Ensembli | ENST00000312358; ENSP00000311684; ENSG00000072195 ENST00000396686; ENSP00000379917; ENSG00000072195 [Q15772-4] ENST00000396688; ENSP00000379919; ENSG00000072195 [Q15772-4] ENST00000396689; ENSP00000379920; ENSG00000072195 [Q15772-4] |
GeneIDi | 10290 |
KEGGi | hsa:10290 |
MANE-Selecti | ENST00000312358.12; ENSP00000311684.7; NM_005876.5; NP_005867.3 |
UCSCi | uc002vlq.4, human [Q15772-5] |
Organism-specific databases
CTDi | 10290 |
DisGeNETi | 10290 |
GeneCardsi | SPEG |
HGNCi | HGNC:16901, SPEG |
HPAi | ENSG00000072195, Tissue enhanced (intestine, skeletal muscle) |
MalaCardsi | SPEG |
MIMi | 615950, gene 615959, phenotype |
neXtProti | NX_Q15772 |
OpenTargetsi | ENSG00000072195 |
Orphaneti | 169186, Autosomal recessive centronuclear myopathy |
PharmGKBi | PA142672598 |
VEuPathDBi | HostDB:ENSG00000072195 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0032, Eukaryota KOG0613, Eukaryota |
GeneTreei | ENSGT00940000161126 |
HOGENOMi | CLU_000381_0_0_1 |
InParanoidi | Q15772 |
OrthoDBi | 7796at2759 |
PhylomeDBi | Q15772 |
TreeFami | TF331962 |
Enzyme and pathway databases
PathwayCommonsi | Q15772 |
SignaLinki | Q15772 |
Miscellaneous databases
BioGRID-ORCSi | 10290, 0 hits in 1051 CRISPR screens |
ChiTaRSi | SPEG, human |
EvolutionaryTracei | Q15772 |
GeneWikii | SPEG |
GenomeRNAii | 10290 |
Pharosi | Q15772, Tbio |
PROi | PR:Q15772 |
RNActi | Q15772, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000072195, Expressed in esophagus and 216 other tissues |
ExpressionAtlasi | Q15772, baseline and differential |
Genevisiblei | Q15772, HS |
Family and domain databases
CDDi | cd00063, FN3, 2 hits |
Gene3Di | 2.60.40.10, 11 hits |
InterProi | View protein in InterPro IPR003961, FN3_dom IPR036116, FN3_sf 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 IPR000719, Prot_kinase_dom IPR017441, Protein_kinase_ATP_BS IPR015726, Ser/Thr_kin_striated-sp IPR008271, Ser/Thr_kinase_AS |
PANTHERi | PTHR47633:SF3, PTHR47633:SF3, 3 hits |
Pfami | View protein in Pfam PF07679, I-set, 9 hits PF00069, Pkinase, 2 hits |
SMARTi | View protein in SMART SM00060, FN3, 2 hits SM00409, IG, 9 hits SM00408, IGc2, 9 hits SM00220, S_TKc, 2 hits |
SUPFAMi | SSF48726, SSF48726, 9 hits SSF49265, SSF49265, 1 hit SSF56112, SSF56112, 2 hits |
PROSITEi | View protein in PROSITE PS50853, FN3, 2 hits PS50835, IG_LIKE, 8 hits PS00107, PROTEIN_KINASE_ATP, 1 hit PS50011, PROTEIN_KINASE_DOM, 2 hits PS00108, PROTEIN_KINASE_ST, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | SPEG_HUMAN | |
Accessioni | Q15772Primary (citable) accession number: Q15772 Secondary accession number(s): A8K0G6 Q9P2P9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | December 16, 2008 | |
Last modified: | February 23, 2022 | |
This is version 191 of the entry and version 4 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
3D-structure, Reference proteomeDocuments
- Human and mouse protein kinases
Human and mouse protein kinases: classification and index - Human chromosome 2
Human chromosome 2: 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families