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Q15772

- SPEG_HUMAN

UniProt

Q15772 - SPEG_HUMAN

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Protein

Striated muscle preferentially expressed protein kinase

Gene

SPEG

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

Functioni

Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells.

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei1630 – 16301ATPPROSITE-ProRule annotation
Active sitei1719 – 17191Proton acceptorBy similarity
Binding sitei2995 – 29951ATPPROSITE-ProRule annotation
Active sitei3085 – 30851Proton acceptorBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi1607 – 16159ATPPROSITE-ProRule annotation
Nucleotide bindingi2972 – 29809ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. protein serine/threonine kinase activity Source: UniProtKB-KW

GO - Biological processi

  1. cardiac muscle cell development Source: Ensembl
  2. in utero embryonic development Source: Ensembl
  3. muscle organ development Source: ProtInc
  4. negative regulation of cell proliferation Source: ProtInc
  5. respiratory system development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Serine/threonine-protein kinase, Transferase

Keywords - Biological processi

Differentiation

Keywords - Ligandi

ATP-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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:16901. SPEG.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Myopathy, centronuclear, 5 (CNM5) [MIM:615959]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2757 – 27571G → V in CNM5. 1 Publication
VAR_071808

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615959. phenotype.
PharmGKBiPA142672598.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 32673267Striated muscle preferentially expressed protein kinasePRO_0000072666Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi989 ↔ 1041PROSITE-ProRule annotation
Modified residuei1172 – 11721PhosphoserineBy similarity
Disulfide bondi2605 ↔ 2657PROSITE-ProRule annotation

Post-translational modificationi

May be autophosphorylated.

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

MaxQBiQ15772.
PaxDbiQ15772.
PRIDEiQ15772.

PTM databases

PhosphoSiteiQ15772.

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

BgeeiQ15772.
CleanExiHS_SPEG.
ExpressionAtlasiQ15772. baseline and differential.
GenevestigatoriQ15772.

Organism-specific databases

HPAiHPA018904.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi115579. 3 interactions.
IntActiQ15772. 1 interaction.

Structurei

Secondary structure

1
3267
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi867 – 8737Combined sources
Beta strandi878 – 8814Combined sources
Beta strandi886 – 89611Combined sources
Beta strandi899 – 9046Combined sources
Beta strandi915 – 9195Combined sources
Helixi921 – 9233Combined sources
Beta strandi924 – 9318Combined sources
Helixi934 – 9363Combined sources
Beta strandi938 – 9469Combined sources
Beta strandi949 – 96012Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1U2HX-ray0.96A864-960[»]
ProteinModelPortaliQ15772.
SMRiQ15772. Positions 866-961.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ15772.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini43 – 12482Ig-like 1Add
BLAST
Domaini722 – 81089Ig-like 2Add
BLAST
Domaini869 – 95890Ig-like 3Add
BLAST
Domaini963 – 105795Ig-like 4Add
BLAST
Domaini1064 – 115289Ig-like 5Add
BLAST
Domaini1188 – 127891Ig-like 6Add
BLAST
Domaini1285 – 138298Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini1384 – 148097Ig-like 7Add
BLAST
Domaini1485 – 157389Ig-like 8Add
BLAST
Domaini1601 – 1854254Protein kinase 1PROSITE-ProRule annotationAdd
BLAST
Domaini2583 – 267391Ig-like 9Add
BLAST
Domaini2680 – 277495Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini2966 – 3218253Protein kinase 2PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi284 – 34562Pro-richAdd
BLAST
Compositional biasi525 – 634110Pro-richAdd
BLAST
Compositional biasi1919 – 19246Poly-Ser
Compositional biasi1925 – 19317Poly-Glu
Compositional biasi2175 – 2316142Pro-richAdd
BLAST
Compositional biasi2339 – 2503165Arg-richAdd
BLAST
Compositional biasi2786 – 2965180Pro-richAdd
BLAST

Sequence similaritiesi

Contains 2 fibronectin type-III domains.PROSITE-ProRule annotation
Contains 2 protein kinase domains.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

eggNOGiCOG0515.
GeneTreeiENSGT00760000118877.
HOVERGENiHBG083339.
InParanoidiQ15772.
KOiK08809.
OMAiQYRDVHR.
OrthoDBiEOG7QC7V5.
PhylomeDBiQ15772.
TreeFamiTF331962.

Family and domain databases

Gene3Di2.60.40.10. 11 hits.
InterProiIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR002290. Ser/Thr_dual-sp_kinase.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view]
PfamiPF07679. I-set. 9 hits.
PF00069. Pkinase. 2 hits.
[Graphical view]
SMARTiSM00060. FN3. 2 hits.
SM00409. IG. 3 hits.
SM00408. IGc2. 6 hits.
SM00220. S_TKc. 2 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
SSF56112. SSF56112. 2 hits.
PROSITEiPS50853. 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.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative promoter usage and alternative splicing. Align

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 AAY15052.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence ABD61734.1 differs from that shown. Reason: Frameshift at positions 31 and 35. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti71 – 711Q → H in ABD61734. (PubMed:16545539)Curated
Sequence conflicti73 – 731S → I in ABD61734. (PubMed:16545539)Curated
Sequence conflicti2047 – 20471S → G in AAT80901. (PubMed:15185077)Curated
Sequence conflicti2047 – 20471S → G in BAA92535. (PubMed:10718198)Curated
Sequence conflicti3005 – 30051R → P in AAT80901. (PubMed:15185077)Curated
Sequence conflicti3005 – 30051R → P in BAA92535. (PubMed:10718198)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti206 – 2061R → H.1 Publication
Corresponds to variant rs55821435 [ dbSNP | Ensembl ].
VAR_041101
Natural varianti934 – 9341R → C.1 Publication
Corresponds to variant rs34398769 [ dbSNP | Ensembl ].
VAR_041102
Natural varianti966 – 9661R → Q.1 Publication
Corresponds to variant rs34861443 [ dbSNP | Ensembl ].
VAR_041103
Natural varianti1103 – 11031P → L.1 Publication
Corresponds to variant rs56334571 [ dbSNP | Ensembl ].
VAR_041104
Natural varianti1135 – 11351A → V.1 Publication
Corresponds to variant rs55670811 [ dbSNP | Ensembl ].
VAR_041105
Natural varianti1178 – 11781E → D in a gastric adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041106
Natural varianti1234 – 12341R → W.1 Publication
Corresponds to variant rs55916864 [ dbSNP | Ensembl ].
VAR_041107
Natural varianti1340 – 13401R → Q.1 Publication
Corresponds to variant rs34994343 [ dbSNP | Ensembl ].
VAR_041108
Natural varianti1621 – 16211R → C.1 Publication
Corresponds to variant rs55646900 [ dbSNP | Ensembl ].
VAR_041109
Natural varianti1903 – 19031R → W in an ovarian mucinous carcinoma sample; somatic mutation. 1 Publication
VAR_041110
Natural varianti2189 – 21891P → L.
Corresponds to variant rs10755037 [ dbSNP | Ensembl ].
VAR_059769
Natural varianti2687 – 26871P → T.3 Publications
Corresponds to variant rs13026308 [ dbSNP | Ensembl ].
VAR_041111
Natural varianti2742 – 27421V → M in a gastric adenocarcinoma sample; somatic mutation. 1 Publication
VAR_041112
Natural varianti2757 – 27571G → V in CNM5. 1 Publication
VAR_071808
Natural varianti3079 – 30791H → R.1 Publication
Corresponds to variant rs12464085 [ dbSNP | Ensembl ].
VAR_041113

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 849849Missing in isoform 3. 3 PublicationsVSP_018258Add
BLAST
Alternative sequencei1 – 792792Missing in isoform 2. 1 PublicationVSP_018259Add
BLAST
Alternative sequencei961 – 9622AH → GE in isoform 2 and isoform 3. 4 PublicationsVSP_018261
Alternative sequencei963 – 32672305Missing in isoform 2 and isoform 3. 4 PublicationsVSP_018262Add
BLAST
Alternative sequencei3209 – 326759LQDCL…YPGGP → SCLSVCHKEIKMASS in isoform 1. 3 PublicationsVSP_036071Add
BLAST

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]
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.
UCSCiuc002vln.1. human. [Q15772-3]
uc002vlq.3. human. [Q15772-4]
uc010fwg.3. human. [Q15772-5]

Polymorphism databases

DMDMi218512143.

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

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 ]
UniGenei Hs.21639.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1U2H X-ray 0.96 A 864-960 [» ]
ProteinModelPortali Q15772.
SMRi Q15772. Positions 866-961.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115579. 3 interactions.
IntActi Q15772. 1 interaction.

PTM databases

PhosphoSitei Q15772.

Polymorphism databases

DMDMi 218512143.

Proteomic databases

MaxQBi Q15772.
PaxDbi Q15772.
PRIDEi Q15772.

Protocols and materials databases

DNASUi 10290.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000312358 ; ENSP00000311684 ; ENSG00000072195 . [Q15772-5 ]
ENST00000396686 ; ENSP00000379917 ; ENSG00000072195 . [Q15772-4 ]
ENST00000396688 ; ENSP00000379919 ; ENSG00000072195 . [Q15772-4 ]
ENST00000396689 ; ENSP00000379920 ; ENSG00000072195 . [Q15772-4 ]
GeneIDi 10290.
KEGGi hsa:10290.
UCSCi uc002vln.1. human. [Q15772-3 ]
uc002vlq.3. human. [Q15772-4 ]
uc010fwg.3. human. [Q15772-5 ]

Organism-specific databases

CTDi 10290.
GeneCardsi GC02P220299.
H-InvDB HIX0002864.
HGNCi HGNC:16901. SPEG.
HPAi HPA018904.
MIMi 615950. gene.
615959. phenotype.
neXtProti NX_Q15772.
PharmGKBi PA142672598.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
GeneTreei ENSGT00760000118877.
HOVERGENi HBG083339.
InParanoidi Q15772.
KOi K08809.
OMAi QYRDVHR.
OrthoDBi EOG7QC7V5.
PhylomeDBi Q15772.
TreeFami TF331962.

Enzyme and pathway databases

SignaLinki Q15772.

Miscellaneous databases

ChiTaRSi SPEG. human.
EvolutionaryTracei Q15772.
GeneWikii SPEG.
GenomeRNAii 10290.
NextBioi 38992.
PROi Q15772.
SOURCEi Search...

Gene expression databases

Bgeei Q15772.
CleanExi HS_SPEG.
ExpressionAtlasi Q15772. baseline and differential.
Genevestigatori Q15772.

Family and domain databases

Gene3Di 2.60.40.10. 11 hits.
InterProi IPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR002290. Ser/Thr_dual-sp_kinase.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view ]
Pfami PF07679. I-set. 9 hits.
PF00069. Pkinase. 2 hits.
[Graphical view ]
SMARTi SM00060. FN3. 2 hits.
SM00409. IG. 3 hits.
SM00408. IGc2. 6 hits.
SM00220. S_TKc. 2 hits.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 2 hits.
SSF56112. SSF56112. 2 hits.
PROSITEi 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.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "APEG-1, a novel gene preferentially expressed in aortic smooth muscle cells, is down-regulated by vascular injury."
    Hsieh C.-M., Yoshizumi M., Endege W.O., Kho C.-J., Jain M.K., Kashiki S., de Los Santos R., Lee W.-S., Perrella M.A., Lee M.-E.
    J. Biol. Chem. 271:17354-17359(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INDUCTION.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Cerebellum and Uterus.
  3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Brain.
  7. "The human desmin locus: gene organization and LCR-mediated transcriptional control."
    Tam J.L.Y., Triantaphyllopoulos K., Todd H., Raguz S., de Wit T., Morgan J.E., Partridge T.A., Makrinou E., Grosveld F., Antoniou M.
    Genomics 87:733-746(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 12-129 (ISOFORM 1), ALTERNATIVE PROMOTER USAGE.
  8. "Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases."
    Sutter S.B., Raeker M.O., Borisov A.B., Russell M.W.
    Dev. Genes Evol. 214:352-359(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 130-3267 (ISOFORM 1), TISSUE SPECIFICITY, VARIANT THR-2687.
  9. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 982-3267 (ISOFORM 1), VARIANT THR-2687.
    Tissue: Brain.
  10. "X-ray structure of engineered human aortic preferentially expressed protein-1 (APEG-1)."
    Manjasetty B.A., Niesen F.H., Scheich C., Roske Y., Goetz F., Behlke J., Sievert V., Heinemann U., Bussow K.
    BMC Struct. Biol. 5:21-21(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (0.96 ANGSTROMS) OF 864-962, SUBUNIT.
  11. "Patterns of somatic mutation in human cancer genomes."
    Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] HIS-206; CYS-934; GLN-966; LEU-1103; VAL-1135; ASP-1178; TRP-1234; GLN-1340; CYS-1621; TRP-1903; THR-2687; MET-2742 AND ARG-3079.
  12. Cited for: INTERACTION WITH MTM1, INVOLVEMENT IN CNM5, VARIANT CNM5 VAL-2757.

Entry informationi

Entry nameiSPEG_HUMAN
AccessioniPrimary (citable) accession number: Q15772
Secondary accession number(s): A8K0G6
, A8MRU0, Q27J74, Q695L1, Q6FGA6, Q6ZQW1, Q6ZTL8, Q9P2P9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: December 16, 2008
Last modified: November 26, 2014
This is version 140 of the entry and version 4 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

Miscellaneous

Expression is under the tight control of the locus control region (LCRs).

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

External Data

Dasty 3