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UniProtKB - Q15772 (SPEG_HUMAN)

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Protein

Striated muscle preferentially expressed protein kinase

Gene

SPEG

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

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

ATP + a protein = ADP + a phosphoprotein.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei1630ATPPROSITE-ProRule annotation1
Active sitei1719Proton acceptorBy similarity1
Binding sitei2995ATPPROSITE-ProRule annotation1
Active sitei3085Proton acceptorBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi1607 – 1615ATPPROSITE-ProRule annotation9
Nucleotide bindingi2972 – 2980ATPPROSITE-ProRule annotation9

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • muscle cell differentiation Source: Ensembl
  • muscle organ development Source: ProtInc
  • negative regulation of cell proliferation Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionKinase, Serine/threonine-protein kinase, Transferase
Biological processDifferentiation
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

SignaLinkiQ15772

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000072195.14
HGNCiHGNC:16901 SPEG
MIMi615950 gene
neXtProtiNX_Q15772

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

Myopathy, centronuclear, 5 (CNM5)1 Publication
The disease is caused by mutations 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.
See also OMIM:615959
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0718082757G → V in CNM5. 1 PublicationCorresponds to variant dbSNP:rs587777676EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10290
MalaCardsiSPEG
MIMi615959 phenotype
OpenTargetsiENSG00000072195
Orphaneti169186 Autosomal recessive centronuclear myopathy
PharmGKBiPA142672598

Polymorphism and mutation databases

BioMutaiSPEG
DMDMi218512143

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000726661 – 3267Striated muscle preferentially expressed protein kinaseAdd BLAST3267

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei139PhosphoserineBy similarity1
Modified residuei364PhosphoserineBy similarity1
Modified residuei371PhosphoserineBy similarity1
Modified residuei375PhosphothreonineBy similarity1
Modified residuei378PhosphoserineBy similarity1
Modified residuei381PhosphoserineBy similarity1
Modified residuei419PhosphoserineBy similarity1
Modified residuei449PhosphothreonineBy similarity1
Modified residuei453PhosphoserineBy similarity1
Modified residuei488PhosphoserineCombined sources1
Modified residuei506PhosphoserineBy similarity1
Modified residuei526PhosphoserineBy similarity1
Modified residuei549PhosphoserineBy similarity1
Disulfide bondi989 ↔ 1041PROSITE-ProRule annotation
Modified residuei1128PhosphoserineBy similarity1
Modified residuei1172PhosphoserineBy similarity1
Modified residuei1988PhosphoserineBy similarity1
Modified residuei2014PhosphoserineBy similarity1
Modified residuei2015PhosphoserineBy similarity1
Modified residuei2037PhosphoserineBy similarity1
Modified residuei2055Asymmetric dimethylarginine; alternateBy similarity1
Modified residuei2055Omega-N-methylarginine; alternateBy similarity1
Modified residuei2109PhosphoserineBy similarity1
Modified residuei2130PhosphoserineBy similarity1
Modified residuei2139Omega-N-methylarginineBy similarity1
Modified residuei2177PhosphoserineBy similarity1
Modified residuei2376PhosphoserineBy similarity1
Modified residuei2380PhosphothreonineBy similarity1
Modified residuei2410PhosphoserineBy similarity1
Modified residuei2414PhosphoserineBy similarity1
Modified residuei2438PhosphoserineBy similarity1
Modified residuei2439PhosphoserineBy similarity1
Modified residuei2444PhosphoserineBy similarity1
Modified residuei2448PhosphoserineBy similarity1
Modified residuei2521PhosphoserineBy similarity1
Modified residuei2524PhosphoserineBy similarity1
Modified residuei2559PhosphoserineBy similarity1
Disulfide bondi2605 ↔ 2657PROSITE-ProRule annotation
Modified residuei2771PhosphothreonineBy similarity1
Modified residuei2774PhosphoserineBy similarity1
Modified residuei2949PhosphoserineBy similarity1

Post-translational modificationi

May be autophosphorylated.

Keywords - PTMi

Disulfide bond, Methylation, Phosphoprotein

Proteomic databases

EPDiQ15772
MaxQBiQ15772
PaxDbiQ15772
PeptideAtlasiQ15772
PRIDEiQ15772
ProteomicsDBi60751
60752 [Q15772-1]
60753 [Q15772-3]
60754 [Q15772-4]

PTM databases

iPTMnetiQ15772
PhosphoSitePlusiQ15772

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

BgeeiENSG00000072195
CleanExiHS_SPEG
ExpressionAtlasiQ15772 baseline and differential
GenevisibleiQ15772 HS

Organism-specific databases

HPAiHPA018904

Interactioni

Subunit structurei

Interacts with MTM1. Isoform 3 is found as a monomer or homodimer.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PRMT1Q998733EBI-1384196,EBI-78738

Protein-protein interaction databases

BioGridi115579, 5 interactors
IntActiQ15772, 5 interactors
STRINGi9606.ENSP00000311684

Structurei

Secondary structure

13267
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi867 – 873Combined sources7
Beta strandi878 – 881Combined sources4
Beta strandi886 – 896Combined sources11
Beta strandi899 – 904Combined sources6
Beta strandi915 – 919Combined sources5
Helixi921 – 923Combined sources3
Beta strandi924 – 931Combined sources8
Helixi934 – 936Combined sources3
Beta strandi938 – 946Combined sources9
Beta strandi949 – 960Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1U2HX-ray0.96A864-960[»]
ProteinModelPortaliQ15772
SMRiQ15772
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ15772

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini43 – 124Ig-like 1Add BLAST82
Domaini722 – 810Ig-like 2Add BLAST89
Domaini869 – 958Ig-like 3Add BLAST90
Domaini963 – 1057Ig-like 4Add BLAST95
Domaini1064 – 1152Ig-like 5Add BLAST89
Domaini1188 – 1278Ig-like 6Add BLAST91
Domaini1285 – 1382Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST98
Domaini1384 – 1480Ig-like 7Add BLAST97
Domaini1485 – 1573Ig-like 8Add BLAST89
Domaini1601 – 1854Protein kinase 1PROSITE-ProRule annotationAdd BLAST254
Domaini2583 – 2673Ig-like 9Add BLAST91
Domaini2680 – 2774Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST95
Domaini2966 – 3218Protein kinase 2PROSITE-ProRule annotationAdd BLAST253

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi284 – 345Pro-richAdd BLAST62
Compositional biasi525 – 634Pro-richAdd BLAST110
Compositional biasi1919 – 1924Poly-Ser6
Compositional biasi1925 – 1931Poly-Glu7
Compositional biasi2175 – 2316Pro-richAdd BLAST142
Compositional biasi2339 – 2503Arg-richAdd BLAST165
Compositional biasi2786 – 2965Pro-richAdd BLAST180

Sequence similaritiesi

Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

eggNOGiKOG0032 Eukaryota
KOG0613 Eukaryota
ENOG410XQFD LUCA
GeneTreeiENSGT00760000118877
HOVERGENiHBG083339
InParanoidiQ15772
KOiK08809
OMAiQHAGVYK
OrthoDBiEOG091G002S
PhylomeDBiQ15772
TreeFamiTF331962

Family and domain databases

CDDicd00063 FN3, 2 hits
Gene3Di2.60.40.10, 11 hits
InterProiView 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
PANTHERiPTHR45065 PTHR45065, 1 hit
PfamiView protein in Pfam
PF07679 I-set, 9 hits
PF00069 Pkinase, 2 hits
SMARTiView protein in SMART
SM00060 FN3, 2 hits
SM00409 IG, 9 hits
SM00408 IGc2, 9 hits
SM00220 S_TKc, 2 hits
SUPFAMiSSF48726 SSF48726, 9 hits
SSF49265 SSF49265, 2 hits
SSF56112 SSF56112, 2 hits
PROSITEiView 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

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

Isoform 4 (identifier: Q15772-5) [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
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
Note: No experimental confirmation available.
Length:3,267
Mass (Da):354,289
Last modified:December 16, 2008 - v4
Checksum:iE67BEB5624144233
GO
Isoform 2 (identifier: Q15772-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-792: Missing.
     961-962: AH → GE
     963-3267: Missing.

Note: No experimental confirmation available.
Show »
Length:170
Mass (Da):18,673
Checksum:i275949922564F798
GO
Isoform 3 (identifier: Q15772-4) [UniParc]FASTAAdd to basket
Also known as: APEG1

The sequence of this isoform differs from the canonical sequence as follows:
     1-849: Missing.
     961-962: AH → GE
     963-3267: Missing.

Note: Produced by alternative promoter usage.
Show »
Length:113
Mass (Da):12,692
Checksum:i04F367263A1397C5
GO
Isoform 1 (identifier: Q15772-1) [UniParc]FASTAAdd to basket
Also known as: SPEG

The sequence of this isoform differs from the canonical sequence as follows:
     3209-3267: LQDCLAHPWLQDAYLMKLRRQTLTFTTNRLKEFLGEQRRRRAEAATRHKVLLRSYPGGP → SCLSVCHKEIKMASS

Note: Produced by alternative splicing.
Show »
Length:3,223
Mass (Da):348,903
Checksum:iFBF1188F9F1B883A
GO

Sequence cautioni

The sequence AAY15052 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence ABD61734 differs from that shown. Reason: Frameshift at positions 31 and 35.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti71Q → H in ABD61734 (PubMed:16545539).Curated1
Sequence conflicti73S → I in ABD61734 (PubMed:16545539).Curated1
Sequence conflicti2047S → G in AAT80901 (PubMed:15185077).Curated1
Sequence conflicti2047S → G in BAA92535 (PubMed:10718198).Curated1
Sequence conflicti3005R → P in AAT80901 (PubMed:15185077).Curated1
Sequence conflicti3005R → P in BAA92535 (PubMed:10718198).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_041101206R → H1 PublicationCorresponds to variant dbSNP:rs55821435Ensembl.1
Natural variantiVAR_041102934R → C1 PublicationCorresponds to variant dbSNP:rs34398769Ensembl.1
Natural variantiVAR_041103966R → Q1 PublicationCorresponds to variant dbSNP:rs34861443Ensembl.1
Natural variantiVAR_0411041103P → L1 PublicationCorresponds to variant dbSNP:rs56334571Ensembl.1
Natural variantiVAR_0411051135A → V1 PublicationCorresponds to variant dbSNP:rs55670811Ensembl.1
Natural variantiVAR_0411061178E → D in a gastric adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs757589345Ensembl.1
Natural variantiVAR_0411071234R → W1 PublicationCorresponds to variant dbSNP:rs55916864Ensembl.1
Natural variantiVAR_0411081340R → Q1 PublicationCorresponds to variant dbSNP:rs34994343Ensembl.1
Natural variantiVAR_0411091621R → C1 PublicationCorresponds to variant dbSNP:rs55646900Ensembl.1
Natural variantiVAR_0411101903R → W in an ovarian mucinous carcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs762000831Ensembl.1
Natural variantiVAR_0597692189P → L. Corresponds to variant dbSNP:rs10755037EnsemblClinVar.1
Natural variantiVAR_0411112687P → T3 PublicationsCorresponds to variant dbSNP:rs13026308Ensembl.1
Natural variantiVAR_0411122742V → M in a gastric adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs566841339Ensembl.1
Natural variantiVAR_0718082757G → V in CNM5. 1 PublicationCorresponds to variant dbSNP:rs587777676EnsemblClinVar.1
Natural variantiVAR_0411133079H → R1 PublicationCorresponds to variant dbSNP:rs12464085EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0182581 – 849Missing in isoform 3. 3 PublicationsAdd BLAST849
Alternative sequenceiVSP_0182591 – 792Missing in isoform 2. 1 PublicationAdd BLAST792
Alternative sequenceiVSP_018261961 – 962AH → GE in isoform 2 and isoform 3. 4 Publications2
Alternative sequenceiVSP_018262963 – 3267Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST2305
Alternative sequenceiVSP_0360713209 – 3267LQDCL…YPGGP → SCLSVCHKEIKMASS in isoform 1. 3 PublicationsAdd BLAST59

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
CCDSiCCDS42824.1 [Q15772-5]
CCDS54432.1 [Q15772-4]
RefSeqiNP_001166947.1, NM_001173476.1 [Q15772-4]
NP_005867.3, NM_005876.4 [Q15772-5]
XP_016858651.1, XM_017003162.1 [Q15772-3]
UniGeneiHs.21639

Genome annotation databases

EnsembliENST00000312358; ENSP00000311684; ENSG00000072195 [Q15772-5]
ENST00000396686; ENSP00000379917; ENSG00000072195 [Q15772-4]
ENST00000396688; ENSP00000379919; ENSG00000072195 [Q15772-4]
ENST00000396689; ENSP00000379920; ENSG00000072195 [Q15772-4]
GeneIDi10290
KEGGihsa:10290
UCSCiuc002vlq.4 human [Q15772-5]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSPEG_HUMAN
AccessioniPrimary (citable) accession number: Q15772
Secondary accession number(s): A8K0G6
, A8MRU0, Q27J74, Q695L1, Q6FGA6, Q6ZQW1, Q6ZTL8, Q9P2P9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: December 16, 2008
Last modified: June 20, 2018
This is version 169 of the entry and version 4 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  7. SIMILARITY comments
    Index of protein domains and families

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