UniProtKB - Q8NF91 (SYNE1_HUMAN)
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Nesprin-1
SYNE1
Functioni
GO - Molecular functioni
- actin binding Source: UniProtKB
- actin filament binding Source: UniProtKB
- enzyme binding Source: BHF-UCL
- identical protein binding Source: IntAct
- lamin binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- RNA binding Source: UniProtKB
GO - Biological processi
- cytoskeletal anchoring at nuclear membrane Source: UniProtKB
- Golgi organization Source: UniProtKB
- muscle cell differentiation Source: UniProtKB
- nuclear matrix anchoring at nuclear membrane Source: UniProtKB
- nucleus organization Source: UniProtKB
- spermatogenesis Source: UniProtKB-KW
Keywordsi
Molecular function | Actin-binding |
Biological process | Differentiation, Spermatogenesis |
Enzyme and pathway databases
Reactomei | R-HSA-1221632. Meiotic synapsis. |
Names & Taxonomyi
Protein namesi | Recommended name: Nesprin-1Alternative name(s): Enaptin KASH domain-containing protein 1 Short name: KASH1 Myocyte nuclear envelope protein 1 Short name: Myne-1 Nuclear envelope spectrin repeat protein 1 Synaptic nuclear envelope protein 1 Short name: Syne-1 |
Gene namesi | Name:SYNE1 Synonyms:C6orf98, KIAA0796, KIAA1262, KIAA1756, MYNE1 |
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
EuPathDBi | HostDB:ENSG00000131018.22. |
HGNCi | HGNC:17089. SYNE1. |
MIMi | 608441. gene. |
neXtProti | NX_Q8NF91. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 8746 | CytoplasmicPROSITE-ProRule annotationAdd BLAST | 8746 | |
Transmembranei | 8747 – 8767 | Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 8768 – 8797 | Perinuclear spacePROSITE-ProRule annotationAdd BLAST | 30 |
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane, NucleusPathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8)1 Publication
Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062974 | 8095 | R → H in EDMD4. 1 PublicationCorresponds to variant dbSNP:rs119103246Ensembl. | 1 | |
Natural variantiVAR_062975 | 8387 | V → L in EDMD4. 1 PublicationCorresponds to variant dbSNP:rs119103247Ensembl. | 1 | |
Natural variantiVAR_062976 | 8461 | E → K in EDMD4. 1 PublicationCorresponds to variant dbSNP:rs119103248Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 8758 – 8763 | Missing : Abolishes the nuclear envelope targeting, induces a cytoplasmic localization. 1 Publication | 6 |
Keywords - Diseasei
Disease mutation, Emery-Dreifuss muscular dystrophy, NeurodegenerationOrganism-specific databases
DisGeNETi | 23345. |
GeneReviewsi | SYNE1. |
MalaCardsi | SYNE1. |
MIMi | 610743. phenotype. 612998. phenotype. |
OpenTargetsi | ENSG00000131018. |
Orphaneti | 98853. Autosomal dominant Emery-Dreifuss muscular dystrophy. 88644. Autosomal recessive ataxia, Beauce type. 319332. Autosomal recessive myogenic arthrogryposis multiplex congenita. |
PharmGKBi | PA134975331. |
Polymorphism and mutation databases
BioMutai | SYNE1. |
DMDMi | 425906075. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000163591 | 1 – 8797 | Nesprin-1Add BLAST | 8797 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 732 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2270 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 5657 | PhosphoserineBy similarity | 1 | |
Modified residuei | 8223 | PhosphoserineCombined sources | 1 | |
Modified residuei | 8274 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 8277 | PhosphoserineCombined sources | 1 | |
Modified residuei | 8280 | PhosphoserineCombined sources | 1 | |
Modified residuei | 8305 | PhosphoserineBy similarity | 1 | |
Modified residuei | 8360 | PhosphothreonineCombined sources | 1 | |
Disulfide bondi | 8774 | Interchain (C-563 in SUN2); alternateBy similarity | ||
Disulfide bondi | 8774 | Interchain (with C-657 in SUN1); alternateBy similarity |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, PhosphoproteinProteomic databases
EPDi | Q8NF91. |
MaxQBi | Q8NF91. |
PaxDbi | Q8NF91. |
PeptideAtlasi | Q8NF91. |
PRIDEi | Q8NF91. |
PTM databases
CarbonylDBi | Q8NF91. |
iPTMneti | Q8NF91. |
PhosphoSitePlusi | Q8NF91. |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000131018. |
ExpressionAtlasi | Q8NF91. baseline and differential. |
Genevisiblei | Q8NF91. HS. |
Organism-specific databases
HPAi | HPA019113. |
Interactioni
Subunit structurei
Binary interactionsi
GO - Molecular functioni
- actin binding Source: UniProtKB
- actin filament binding Source: UniProtKB
- enzyme binding Source: BHF-UCL
- identical protein binding Source: IntAct
- lamin binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGridi | 116928. 37 interactors. |
CORUMi | Q8NF91. |
IntActi | Q8NF91. 22 interactors. |
MINTi | Q8NF91. |
STRINGi | 9606.ENSP00000356224. |
Structurei
Secondary structure
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Helixi | 8780 – 8782 | Combined sources | 3 | |
Beta strandi | 8783 – 8785 | Combined sources | 3 | |
Beta strandi | 8787 – 8793 | Combined sources | 7 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4DXR | X-ray | 2.32 | B | 8769-8797 | [»] | |
ProteinModelPortali | Q8NF91. | |||||
SMRi | Q8NF91. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 27 – 134 | Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST | 108 | |
Domaini | 178 – 283 | Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST | 106 | |
Repeati | 314 – 397 | Spectrin 1Add BLAST | 84 | |
Repeati | 398 – 502 | Spectrin 2Add BLAST | 105 | |
Repeati | 503 – 609 | Spectrin 3Add BLAST | 107 | |
Repeati | 610 – 703 | Spectrin 4Add BLAST | 94 | |
Repeati | 704 – 815 | Spectrin 5Add BLAST | 112 | |
Repeati | 816 – 923 | Spectrin 6Add BLAST | 108 | |
Repeati | 924 – 1024 | Spectrin 7Add BLAST | 101 | |
Repeati | 1025 – 1122 | Spectrin 8Add BLAST | 98 | |
Repeati | 1123 – 1246 | Spectrin 9Add BLAST | 124 | |
Repeati | 1247 – 1335 | Spectrin 10Add BLAST | 89 | |
Repeati | 1336 – 1444 | Spectrin 11Add BLAST | 109 | |
Repeati | 1445 – 1550 | Spectrin 12Add BLAST | 106 | |
Repeati | 1551 – 1653 | Spectrin 13Add BLAST | 103 | |
Repeati | 1654 – 1763 | Spectrin 14Add BLAST | 110 | |
Repeati | 1764 – 1879 | Spectrin 15Add BLAST | 116 | |
Repeati | 1880 – 1976 | Spectrin 16Add BLAST | 97 | |
Repeati | 1977 – 2081 | Spectrin 17Add BLAST | 105 | |
Repeati | 2082 – 2195 | Spectrin 18Add BLAST | 114 | |
Repeati | 2196 – 2303 | Spectrin 19Add BLAST | 108 | |
Repeati | 2304 – 2401 | Spectrin 20Add BLAST | 98 | |
Repeati | 2402 – 2513 | Spectrin 21Add BLAST | 112 | |
Repeati | 2514 – 2619 | Spectrin 22Add BLAST | 106 | |
Repeati | 2620 – 2731 | Spectrin 23Add BLAST | 112 | |
Repeati | 2732 – 2838 | Spectrin 24Add BLAST | 107 | |
Repeati | 2839 – 2962 | Spectrin 25Add BLAST | 124 | |
Repeati | 2963 – 3062 | Spectrin 26Add BLAST | 100 | |
Repeati | 3063 – 3171 | Spectrin 27Add BLAST | 109 | |
Repeati | 3172 – 3275 | Spectrin 28Add BLAST | 104 | |
Repeati | 3276 – 3387 | Spectrin 29Add BLAST | 112 | |
Repeati | 3388 – 3490 | Spectrin 30Add BLAST | 103 | |
Repeati | 3491 – 3593 | Spectrin 31Add BLAST | 103 | |
Repeati | 3594 – 3720 | Spectrin 32Add BLAST | 127 | |
Repeati | 3721 – 3814 | Spectrin 33Add BLAST | 94 | |
Repeati | 3815 – 3920 | Spectrin 34Add BLAST | 106 | |
Repeati | 3921 – 4028 | Spectrin 35Add BLAST | 108 | |
Repeati | 4029 – 4139 | Spectrin 36Add BLAST | 111 | |
Repeati | 4140 – 4235 | Spectrin 37Add BLAST | 96 | |
Repeati | 4236 – 4339 | Spectrin 38Add BLAST | 104 | |
Repeati | 4340 – 4451 | Spectrin 39Add BLAST | 112 | |
Repeati | 4452 – 4560 | Spectrin 40Add BLAST | 109 | |
Repeati | 4561 – 4669 | Spectrin 41Add BLAST | 109 | |
Repeati | 4670 – 4776 | Spectrin 42Add BLAST | 107 | |
Repeati | 4777 – 4882 | Spectrin 43Add BLAST | 106 | |
Repeati | 4883 – 4991 | Spectrin 44Add BLAST | 109 | |
Repeati | 4992 – 5099 | Spectrin 45Add BLAST | 108 | |
Repeati | 5100 – 5209 | Spectrin 46Add BLAST | 110 | |
Repeati | 5210 – 5318 | Spectrin 47Add BLAST | 109 | |
Repeati | 5319 – 5424 | Spectrin 48Add BLAST | 106 | |
Repeati | 5425 – 5522 | Spectrin 49Add BLAST | 98 | |
Repeati | 5523 – 5630 | Spectrin 50Add BLAST | 108 | |
Repeati | 5631 – 5736 | Spectrin 51Add BLAST | 106 | |
Repeati | 5737 – 5842 | Spectrin 52Add BLAST | 106 | |
Repeati | 5962 – 6071 | Spectrin 53Add BLAST | 110 | |
Repeati | 6072 – 6178 | Spectrin 54Add BLAST | 107 | |
Repeati | 6374 – 6485 | Spectrin 55Add BLAST | 112 | |
Repeati | 6486 – 6581 | Spectrin 56Add BLAST | 96 | |
Repeati | 6582 – 6691 | Spectrin 57Add BLAST | 110 | |
Repeati | 6692 – 6795 | Spectrin 58Add BLAST | 104 | |
Repeati | 6796 – 6902 | Spectrin 59Add BLAST | 107 | |
Repeati | 6903 – 7020 | Spectrin 60Add BLAST | 118 | |
Repeati | 7021 – 7128 | Spectrin 61Add BLAST | 108 | |
Repeati | 7129 – 7237 | Spectrin 62Add BLAST | 109 | |
Repeati | 7238 – 7350 | Spectrin 63Add BLAST | 113 | |
Repeati | 7351 – 7454 | Spectrin 64Add BLAST | 104 | |
Repeati | 7455 – 7558 | Spectrin 65Add BLAST | 104 | |
Repeati | 7559 – 7671 | Spectrin 66Add BLAST | 113 | |
Repeati | 7672 – 7783 | Spectrin 67Add BLAST | 112 | |
Repeati | 7784 – 7883 | Spectrin 68Add BLAST | 100 | |
Repeati | 7884 – 7997 | Spectrin 69Add BLAST | 114 | |
Repeati | 7998 – 8106 | Spectrin 70Add BLAST | 109 | |
Repeati | 8107 – 8216 | Spectrin 71Add BLAST | 110 | |
Repeati | 8329 – 8438 | Spectrin 72Add BLAST | 110 | |
Repeati | 8439 – 8548 | Spectrin 73Add BLAST | 110 | |
Repeati | 8549 – 8666 | Spectrin 74Add BLAST | 118 | |
Domaini | 8738 – 8797 | KASHPROSITE-ProRule annotationAdd BLAST | 60 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 289 | Actin-bindingAdd BLAST | 289 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 314 – 8666 | Sequence analysisAdd BLAST | 8353 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 8663 – 8729 | Ser-richAdd BLAST | 67 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coil, Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0516. Eukaryota. COG5069. LUCA. |
GeneTreei | ENSGT00900000140842. |
HOVERGENi | HBG066187. |
InParanoidi | Q8NF91. |
KOi | K19326. |
OMAi | QVRCAEG. |
OrthoDBi | EOG091G0007. |
TreeFami | TF329280. |
Family and domain databases
CDDi | cd00014. CH. 2 hits. |
Gene3Di | 1.10.418.10. 2 hits. |
InterProi | View protein in InterPro IPR001589. Actinin_actin-bd_CS. IPR001715. CH-domain. IPR036872. CH_dom_sf. IPR012315. KASH. IPR018159. Spectrin/alpha-actinin. IPR002017. Spectrin_repeat. IPR030265. SYNE1. |
PANTHERi | PTHR44867. PTHR44867. 1 hit. |
Pfami | View protein in Pfam PF00307. CH. 2 hits. PF10541. KASH. 1 hit. PF00435. Spectrin. 10 hits. |
SMARTi | View protein in SMART SM00033. CH. 2 hits. SM01249. KASH. 1 hit. SM00150. SPEC. 45 hits. |
SUPFAMi | SSF47576. SSF47576. 2 hits. |
PROSITEi | View protein in PROSITE PS00019. ACTININ_1. 1 hit. PS00020. ACTININ_2. 1 hit. PS50021. CH. 2 hits. PS51049. KASH. 1 hit. |
s (12)i Sequence
Sequence statusi: Complete.
This entry describes 12 produced by isoformsialternative splicing. AlignAdd 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.
10 20 30 40 50
MATSRGASRC PRDIANVMQR LQDEQEIVQK RTFTKWINSH LAKRKPPMVV
60 70 80 90 100
DDLFEDMKDG VKLLALLEVL SGQKLPCEQG RRMKRIHAVA NIGTALKFLE
110 120 130 140 150
GRKIKLVNIN STDIADGRPS IVLGLMWTII LYFQIEELTS NLPQLQSLSS
160 170 180 190 200
SASSVDSIVS SETPSPPSKR KVTTKIQGNA KKALLKWVQY TAGKQTGIEV
210 220 230 240 250
KDFGKSWRSG VAFHSVIHAI RPELVDLETV KGRSNRENLE DAFTIAETEL
260 270 280 290 300
GIPRLLDPED VDVDKPDEKS IMTYVAQFLK HYPDIHNAST DGQEDDEILP
310 320 330 340 350
GFPSFANSVQ NFKREDRVIF KEMKVWIEQF ERDLTRAQMV ESNLQDKYQS
360 370 380 390 400
FKHFRVQYEM KRKQIEHLIQ PLHRDGKLSL DQALVKQSWD RVTSRLFDWH
410 420 430 440 450
IQLDKSLPAP LGTIGAWLYR AEVALREEIT VQQVHEETAN TIQRKLEQHK
460 470 480 490 500
DLLQNTDAHK RAFHEIYRTR SVNGIPVPPD QLEDMAERFH FVSSTSELHL
510 520 530 540 550
MKMEFLELKY RLLSLLVLAE SKLKSWIIKY GRRESVEQLL QNYVSFIENS
560 570 580 590 600
KFFEQYEVTY QILKQTAEMY VKADGSVEEA ENVMKFMNET TAQWRNLSVE
610 620 630 640 650
VRSVRSMLEE VISNWDRYGN TVASLQAWLE DAEKMLNQSE NAKKDFFRNL
660 670 680 690 700
PHWIQQHTAM NDAGNFLIET CDEMVSRDLK QQLLLLNGRW RELFMEVKQY
710 720 730 740 750
AQADEMDRMK KEYTDCVVTL SAFATEAHKK LSEPLEVSFM NVKLLIQDLE
760 770 780 790 800
DIEQRVPVMD AQYKIITKTA HLITKESPQE EGKEMFATMS KLKEQLTKVK
810 820 830 840 850
ECYSPLLYES QQLLIPLEEL EKQMTSFYDS LGKINEIITV LEREAQSSAL
860 870 880 890 900
FKQKHQELLA CQENCKKTLT LIEKGSQSVQ KFVTLSNVLK HFDQTRLQRQ
910 920 930 940 950
IADIHVAFQS MVKKTGDWKK HVETNSRLMK KFEESRAELE KVLRIAQEGL
960 970 980 990 1000
EEKGDPEELL RRHTEFFSQL DQRVLNAFLK ACDELTDILP EQEQQGLQEA
1010 1020 1030 1040 1050
VRKLHKQWKD LQGEAPYHLL HLKIDVEKNR FLASVEECRT ELDRETKLMP
1060 1070 1080 1090 1100
QEGSEKIIKE HRVFFSDKGP HHLCEKRLQL IEELCVKLPV RDPVRDTPGT
1110 1120 1130 1140 1150
CHVTLKELRA AIDSTYRKLM EDPDKWKDYT SRFSEFSSWI STNETQLKGI
1160 1170 1180 1190 1200
KGEAIDTANH GEVKRAVEEI RNGVTKRGET LSWLKSRLKV LTEVSSENEA
1210 1220 1230 1240 1250
QKQGDELAKL SSSFKALVTL LSEVEKMLSN FGDCVQYKEI VKNSLEELIS
1260 1270 1280 1290 1300
GSKEVQEQAE KILDTENLFE AQQLLLHHQQ KTKRISAKKR DVQQQIAQAQ
1310 1320 1330 1340 1350
QGEGGLPDRG HEELRKLEST LDGLERSRER QERRIQVTLR KWERFETNKE
1360 1370 1380 1390 1400
TVVRYLFQTG SSHERFLSFS SLESLSSELE QTKEFSKRTE SIAVQAENLV
1410 1420 1430 1440 1450
KEASEIPLGP QNKQLLQQQA KSIKEQVKKL EDTLEEDIKT MEMVKTKWDH
1460 1470 1480 1490 1500
FGSNFETLSV WITEKEKELN ALETSSSAMD MQISQIKVTI QEIESKLSSI
1510 1520 1530 1540 1550
VGLEEEAQSF AQFVTTGESA RIKAKLTQIR RYGEELREHA QCLEGTILGH
1560 1570 1580 1590 1600
LSQQQKFEEN LRKIQQSVSE FEDKLAVPIK ICSSATETYK VLQEHMDLCQ
1610 1620 1630 1640 1650
ALESLSSAIT AFSASARKVV NRDSCVQEAA ALQQQYEDIL RRAKERQTAL
1660 1670 1680 1690 1700
ENLLAHWQRL EKELSSFLTW LERGEAKASS PEMDISADRV KVEGELQLIQ
1710 1720 1730 1740 1750
ALQNEVVSQA SFYSKLLQLK ESLFSVASKD DVKMMKLHLE QLDERWRDLP
1760 1770 1780 1790 1800
QIINKRINFL QSVVAEHQQF DELLLSFSVW IKLFLSELQT TSEISIMDHQ
1810 1820 1830 1840 1850
VALTRHKDHA AEVESKKGEL QSLQGHLAKL GSLGRAEDLH LLQGKAEDCF
1860 1870 1880 1890 1900
QLFEEASQVV ERRQLALSHL AEFLQSHASL SGILRQLRQT VEATNSMNKN
1910 1920 1930 1940 1950
ESDLIEKDLN DALQNAKALE SAAVSLDGIL SKAQYHLKIG SSEQRTSCRA
1960 1970 1980 1990 2000
TADQLCGEVE RIQNLLGTKQ SEADALAVLK KAFQDQKEEL LKSIEDIEER
2010 2020 2030 2040 2050
TDKERLKEPT RQALQQRLRV FNQLEDELNS HEHELCWLKD KAKQIAQKDV
2060 2070 2080 2090 2100
AFAPEVDREI NRLEVTWDDT KRLIHENQGQ CCGLIDLMRE YQNLKSAVSK
2110 2120 2130 2140 2150
VLENASSVIV TRTTIKDQED LKWAFSKHET AKNKMNYKQK DLDNFTSKGK
2160 2170 2180 2190 2200
HLLSELKKIH SSDFSLVKTD MESTVDKWLD VSEKLEENMD RLRVSLSIWD
2210 2220 2230 2240 2250
DVLSTRDEIE GWSNNCVPQM AENISNLDNH LRAEELLKEF ESEVKNKALR
2260 2270 2280 2290 2300
LEELHSKVND LKELTKNLET PPDLQFIEAD LMQKLEHAKE ITEVAKGTLK
2310 2320 2330 2340 2350
DFTAQSTQVE KFINDITTWF TKVEESLMNC AQNETCEALK KVKDIQKELQ
2360 2370 2380 2390 2400
SQQSNISSTQ ENLNSLCRKY HSAELESLGR AMTGLIKKHE AVSQLCSKTQ
2410 2420 2430 2440 2450
ASLQESLEKH FSESMQEFQE WFLGAKAAAK ESSDRTGDSK VLEAKLHDLQ
2460 2470 2480 2490 2500
NILDSVSDGQ SKLDAVTQEG QTLYAHLSKQ IVSSIQEQIT KANEEFQAFL
2510 2520 2530 2540 2550
KQCLKDKQAL QDCASELGSF EDQHRKLNLW IHEMEERFNT ENLGESKQHI
2560 2570 2580 2590 2600
PEKKNEVHKV EMFLGELLAA RESLDKLSQR GQLLSEEGHG AGQEGRLCSQ
2610 2620 2630 2640 2650
LLTSHQNLLR MTKEKLRSCQ VALQEHEALE EALQSMWFWV KAIQDRLACA
2660 2670 2680 2690 2700
ESTLGSKDTL EKRLSQIQDI LLMKGEGEVK LNMAIGKGEQ ALRSSNKEGQ
2710 2720 2730 2740 2750
RVIQTQLETL KEVWADIMSS SVHAQSTLES VISQWNDYVE RKNQLEQWME
2760 2770 2780 2790 2800
SVDQKIEHPL QPQPGLKEKF VLLDHLQSIL SEAEDHTRAL HRLIAKSREL
2810 2820 2830 2840 2850
YEKTEDESFK DTAQEELKTQ FNDIMTVAKE KMRKVEEIVK DHLMYLDAVH
2860 2870 2880 2890 2900
EFTDWLHSAK EELHRWSDMS GDSSATQKKL SKIKELIDSR EIGASRLSRV
2910 2920 2930 2940 2950
ESLAPEVKQN TTASGCELMH TEMQALRADW KQWEDSVFQT QSCLENLVSQ
2960 2970 2980 2990 3000
MALSEQEFSG QVAQLEQALE QFSALLKTWA QQLTLLEGKN TDEEIVECWH
3010 3020 3030 3040 3050
KGQEILDALQ KAEPRTEDLK SQLNELCRFS RDLSTYSGKV SGLIKEYNCL
3060 3070 3080 3090 3100
CLQASKGCQN KEQILQQRFR KAFRDFQQWL VNAKITTAKC FDIPQNISEV
3110 3120 3130 3140 3150
STSLQKIQEF LSESENGQHK LNMMLSKGEL LSTLLTKEKA KGIQAKVTAA
3160 3170 3180 3190 3200
KEDWKNFHSN LHQKESALEN LKIQMKDFEV SAEPIQDWLS KTEKMVHESS
3210 3220 3230 3240 3250
NRLYDLPAKR REQQKLQSVL EEIHCYEPQL NRLKEKAQQL WEGQAASKSF
3260 3270 3280 3290 3300
RHRVSQLSSQ YLALSNLTKE KVSRLDRIVA EHNQFSLGIK ELQDWMTDAI
3310 3320 3330 3340 3350
HMLDSYCHPT SDKSVLDSRT LKLEALLSVK QEKEIQMKMI VTRGESVLQN
3360 3370 3380 3390 3400
TSPEGIPTIQ QQLQSVKDMW ASLLSAGIRC KSQLEGALSK WTSYQDGVRQ
3410 3420 3430 3440 3450
FSGWMDSMEA NLNESERQHA ELRDKTTMLG KAKLLNEEVL SYSSLLETIE
3460 3470 3480 3490 3500
VKGAGMTEHY VTQLELQDLQ ERYRAIQERA KEAVTKSEKL VRLHQEYQRD
3510 3520 3530 3540 3550
LKAFEVWLGQ EQEKLDQYSV LEGDAHTHET TLRDLQELQV HCAEGQALLN
3560 3570 3580 3590 3600
SVLHTREDVI PSGIPQAEDR ALESLRQDWQ AYQHRLSETR TQFNNVVNKL
3610 3620 3630 3640 3650
RLMEQKFQQV DEWLKTAEEK VSPRTRRQSN RATKEIQLHQ MKKWHEEVTA
3660 3670 3680 3690 3700
YRDEVEEVGA RAQEILDESH VNSRMGCQAT QLTSRYQALL LQVLEQIKFL
3710 3720 3730 3740 3750
EEEIQSLEES ESSLSSYSDW YGSTHKNFKN VATKIDKVDT VMMGKKLKTL
3760 3770 3780 3790 3800
EVLLKDMEKG HSLLKSAREK GERAVKYLEE GEAERLRKEI HDHMEQLKEL
3810 3820 3830 3840 3850
TSTVRKEHMT LEKGLHLAKE FSDKCKALTQ WIAEYQEILH VPEEPKMELY
3860 3870 3880 3890 3900
EKKAQLSKYK SLQQTVLSHE PSVKSVREKG EALLELVQDV TLKDKIDQLQ
3910 3920 3930 3940 3950
SDYQDLCSIG KEHVFSLEAK VKDHEDYNSE LQEVEKWLLQ MSGRLVAPDL
3960 3970 3980 3990 4000
LETSSLETIT QQLAHHKAMM EEIAGFEDRL NNLQMKGDTL IGQCADHLQA
4010 4020 4030 4040 4050
KLKQNVHAHL QGTKDSYSAI CSTAQRMYQS LEHELQKHVS RQDTLQQCQA
4060 4070 4080 4090 4100
WLSAVQPDLE PSPQPPLSRA EAIKQVKHFR ALQEQARTYL DLLCSMCDLS
4110 4120 4130 4140 4150
NASVKTTAKD IQQTEQTIEQ KLVQAQNLTQ GWEEIKHLKS ELWIYLQDAD
4160 4170 4180 4190 4200
QQLQNMKRRH SELELNIAQN MVSQVKDFVK KLQSKQASVN TIIEKVNKLT
4210 4220 4230 4240 4250
KKEESPEHKE INHLNDQWLD LCRQSNNLCL QREEDLQRTR DYHDCMNVVE
4260 4270 4280 4290 4300
VFLEKFTTEW DNLARSDAES TAVHLEALKK LALALQERKY AIEDLKDQKQ
4310 4320 4330 4340 4350
KMIEHLNLDD KELVKEQTSH LEQRWFQLED LIKRKIQVSV TNLEELNVVQ
4360 4370 4380 4390 4400
SRFQELMEWA EEQQPNIAEA LKQSPPPDMA QNLLMDHLAI CSELEAKQML
4410 4420 4430 4440 4450
LKSLIKDADR VMADLGLNER QVIQKALSDA QSHVNCLSDL VGQRRKYLNK
4460 4470 4480 4490 4500
ALSEKTQFLM AVFQATSQIQ QHERKIMFRE HICLLPDDVS KQVKTCKSAQ
4510 4520 4530 4540 4550
ASLKTYQNEV TGLWAQGREL MKEVTEQEKS EVLGKLQELQ SVYDSVLQKC
4560 4570 4580 4590 4600
SHRLQELEKN LVSRKHFKED FDKACHWLKQ ADIVTFPEIN LMNESSELHT
4610 4620 4630 4640 4650
QLAKYQNILE QSPEYENLLL TLQRTGQTIL PSLNEVDHSY LSEKLNALPR
4660 4670 4680 4690 4700
QFNVIVALAK DKFYKVQEAI LARKEYASLI ELTTQSLSEL EAQFLRMSKV
4710 4720 4730 4740 4750
PTDLAVEEAL SLQDGCRAIL DEVAGLGEAV DELNQKKEGF RSTGQPWQPD
4760 4770 4780 4790 4800
KMLHLVTLYH RLKRQTEQRV SLLEDTTSAY QEHEKMCQQL ERQLKSVKEE
4810 4820 4830 4840 4850
QSKVNEETLP AEEKLKMYHS LAGSLQDSGI VLKRVTIHLE DLAPHLDPLA
4860 4870 4880 4890 4900
YEKARHQIQS WQGELKLLTS AIGETVTECE SRMVQSIDFQ TEMSRSLDWL
4910 4920 4930 4940 4950
RRVKAELSGP VYLDLNLQDI QEEIRKIQIH QEEVQSSLRI MNALSHKEKE
4960 4970 4980 4990 5000
KFTKAKELIS ADLEHSLAEL SELDGDIQEA LRTRQATLTE IYSQCQRYYQ
5010 5020 5030 5040 5050
VFQAANDWLE DAQELLQLAG NGLDVESAEE NLKSHMEFFS TEDQFHSNLE
5060 5070 5080 5090 5100
ELHSLVATLD PLIKPTGKED LEQKVASLEL RSQRMSRDSG AQVDLLQRCT
5110 5120 5130 5140 5150
AQWHDYQKAR EEVIELMNDT EKKLSEFSLL KTSSSHEAEE KLSEHKALVS
5160 5170 5180 5190 5200
VVNSFHEKIV ALEEKASQLE KTGNDASKAT LSRSMTTVWQ RWTRLRAVAQ
5210 5220 5230 5240 5250
DQEKILEDAV DEWTGFNNKV KKATEMIDQL QDKLPGSSAE KASKAELLTL
5260 5270 5280 5290 5300
LEYHDTFVLE LEQQQSALGM LRQQTLSMLQ DGAAPTPGEE PPLMQEITAM
5310 5320 5330 5340 5350
QDRCLNMQEK VKTNGKLVKQ ELKDREMVET QINSVKCWVQ ETKEYLGNPT
5360 5370 5380 5390 5400
IEIDAQLEEL QILLTEATNH RQNIEKMAEE QKEKYLGLYT ILPSELSLQL
5410 5420 5430 5440 5450
AEVALDLKIR DQIQDKIKEV EQSKATSQEL SRQIQKLAKD LTTILTKLKA
5460 5470 5480 5490 5500
KTDNVVQAKT DQKVLGEELD GCNSKLMELD AAVQKFLEQN GQLGKPLAKK
5510 5520 5530 5540 5550
IGKLTELHQQ TIRQAENRLS KLNQAASHLE EYNEMLELIL KWIEKAKVLA
5560 5570 5580 5590 5600
HGTIAWNSAS QLREQYILHQ TLLEESKEID SELEAMTEKL QYLTSVYCTE
5610 5620 5630 5640 5650
KMSQQVAELG RETEELRQMI KIRLQNLQDA AKDMKKFEAE LKKLQAALEQ
5660 5670 5680 5690 5700
AQATLTSPEV GRLSLKEQLS HRQHLLSEME SLKPKVQAVQ LCQSALRIPE
5710 5720 5730 5740 5750
DVVASLPLCH AALRLQEEAS RLQHTAIQQC NIMQEAVVQY EQYEQEMKHL
5760 5770 5780 5790 5800
QQLIEGAHRE IEDKPVATSN IQELQAQISR HEELAQKIKG YQEQIASLNS
5810 5820 5830 5840 5850
KCKMLTMKAK HATMLLTVTE VEGLAEGTED LDGELLPTPS AHPSVVMMTA
5860 5870 5880 5890 5900
GRCHTLLSPV TEESGEEGTN SEISSPPACR SPSPVANTDA SVNQDIAYYQ
5910 5920 5930 5940 5950
ALSAERLQTD AAKIHPSTSA SQEFYEPGLE PSATAKLGDL QRSWETLKNV
5960 5970 5980 5990 6000
ISEKQRTLYE ALERQQKYQD SLQSISTKME AIELKLSESP EPGRSPESQM
6010 6020 6030 6040 6050
AEHQALMDEI LMLQDEINEL QSSLAEELVS ESCEADPAEQ LALQSTLTVL
6060 6070 6080 6090 6100
AERMSTIRMK ASGKRQLLEE KLNDQLEEQR QEQALQRYRC EADELDSWLL
6110 6120 6130 6140 6150
STKATLDTAL SPPKEPMDME AQLMDCQNML VEIEQKVVAL SELSVHNENL
6160 6170 6180 6190 6200
LLEGKAHTKD EAEQLAGKLR RLKGSLLELQ RALHDKQLNM QGTAQEKEES
6210 6220 6230 6240 6250
DVDLTATQSP GVQEWLAQAR TTWTQQRQSS LQQQKELEQE LAEQKSLLRS
6260 6270 6280 6290 6300
VASRGEEILI QHSAAETSGD AGEKPDVLSQ ELGMEGEKSS AEDQMRMKWE
6310 6320 6330 6340 6350
SLHQEFSTKQ KLLQNVLEQE QEQVLYSRPN RLLSGVPLYK GDVPTQDKSA
6360 6370 6380 6390 6400
VTSLLDGLNQ AFEEVSSQSG GAKRQSIHLE QKLYDGVSAT STWLDDVEER
6410 6420 6430 6440 6450
LFVATALLPE ETETCLFNQE ILAKDIKEMS EEMDKNKNLF SQAFPENGDN
6460 6470 6480 6490 6500
RDVIEDTLGC LLGRLSLLDS VVNQRCHQMK ERLQQILNFQ NDLKVLFTSL
6510 6520 6530 6540 6550
ADNKYIILQK LANVFEQPVA EQIEAIQQAE DGLKEFDAGI IELKRRGDKL
6560 6570 6580 6590 6600
QVEQPSMQEL SKLQDMYDEL MMIIGSRRSG LNQNLTLKSQ YERALQDLAD
6610 6620 6630 6640 6650
LLETGQEKMA GDQKIIVSSK EEIQQLLDKH KEYFQGLESH MILTETLFRK
6660 6670 6680 6690 6700
IISFAVQKET QFHTELMAQA SAVLKRAHKR GVELEYILET WSHLDEDQQE
6710 6720 6730 6740 6750
LSRQLEVVES SIPSVGLVEE NEDRLIDRIT LYQHLKSSLN EYQPKLYQVL
6760 6770 6780 6790 6800
DDGKRLLISI SCSDLESQLN QLGECWLSNT NKMSKELHRL ETILKHWTRY
6810 6820 6830 6840 6850
QSESADLIHW LQSAKDRLEF WTQQSVTVPQ ELEMVRDHLN AFLEFSKEVD
6860 6870 6880 6890 6900
AQSSLKSSVL STGNQLLRLK KVDTATLRSE LSRIDSQWTD LLTNIPAVQE
6910 6920 6930 6940 6950
KLHQLQMDKL PSRHAISEVM SWISLMENVI QKDEDNIKNS IGYKAIHEYL
6960 6970 6980 6990 7000
QKYKGFKIDI NCKQLTVDFV NQSVLQISSQ DVESKRSDKT DFAEQLGAMN
7010 7020 7030 7040 7050
KSWQILQGLV TEKIQLLEGL LESWSEYENN VQCLKTWFET QEKRLKQQHR
7060 7070 7080 7090 7100
IGDQASVQNA LKDCQDLEDL IKAKEKEVEK IEQNGLALIQ NKKEDVSSIV
7110 7120 7130 7140 7150
MSTLRELGQT WANLDHMVGQ LKILLKSVLD QWSSHKVAFD KINSYLMEAR
7160 7170 7180 7190 7200
YSLSRFRLLT GSLEAVQVQV DNLQNLQDDL EKQERSLQKF GSITNQLLKE
7210 7220 7230 7240 7250
CHPPVTETLT NTLKEVNMRW NNLLEEIAEQ LQSSKALLQL WQRYKDYSKQ
7260 7270 7280 7290 7300
CASTVQQQED RTNELLKAAT NKDIADDEVA TWIQDCNDLL KGLGTVKDSL
7310 7320 7330 7340 7350
FFLHELGEQL KQQVDASAAS AIQSDQLSLS QHLCALEQAL CKQQTSLQAG
7360 7370 7380 7390 7400
VLDYETFAKS LEALEAWIVE AEEILQGQDP SHSSDLSTIQ ERMEELKGQM
7410 7420 7430 7440 7450
LKFSSMAPDL DRLNELGYRL PLNDKEIKRM QNLNRHWSLI SSQTTERFSK
7460 7470 7480 7490 7500
LQSFLLQHQT FLEKCETWME FLVQTEQKLA VEISGNYQHL LEQQRAHELF
7510 7520 7530 7540 7550
QAEMFSRQQI LHSIIIDGQR LLEQGQVDDR DEFNLKLTLL SNQWQGVIRR
7560 7570 7580 7590 7600
AQQRRGIIDS QIRQWQRYRE MAEKLRKWLV EVSYLPMSGL GSVPIPLQQA
7610 7620 7630 7640 7650
RTLFDEVQFK EKVFLRQQGS YILTVEAGKQ LLLSADSGAE AALQAELAEI
7660 7670 7680 7690 7700
QEKWKSASMR LEEQKKKLAF LLKDWEKCEK GIADSLEKLR TFKKKLSQSL
7710 7720 7730 7740 7750
PDHHEELHAE QMRCKELENA VGSWTDDLTQ LSLLKDTLSA YISADDISIL
7760 7770 7780 7790 7800
NERVELLQRQ WEELCHQLSL RRQQIGERLN EWAVFSEKNK ELCEWLTQME
7810 7820 7830 7840 7850
SKVSQNGDIL IEEMIEKLKK DYQEEIAIAQ ENKIQLQQMG ERLAKASHES
7860 7870 7880 7890 7900
KASEIEYKLG KVNDRWQHLL DLIAARVKKL KETLVAVQQL DKNMSSLRTW
7910 7920 7930 7940 7950
LAHIESELAK PIVYDSCNSE EIQRKLNEQQ ELQRDIEKHS TGVASVLNLC
7960 7970 7980 7990 8000
EVLLHDCDAC ATDAECDSIQ QATRNLDRRW RNICAMSMER RLKIEETWRL
8010 8020 8030 8040 8050
WQKFLDDYSR FEDWLKSSER TAAFPSSSGV IYTVAKEELK KFEAFQRQVH
8060 8070 8080 8090 8100
ECLTQLELIN KQYRRLAREN RTDSACSLKQ MVHEGNQRWD NLQKRVTSIL
8110 8120 8130 8140 8150
RRLKHFIGQR EEFETARDSI LVWLTEMDLQ LTNIEHFSEC DVQAKIKQLK
8160 8170 8180 8190 8200
AFQQEISLNH NKIEQIIAQG EQLIEKSEPL DAAIIEEELD ELRRYCQEVF
8210 8220 8230 8240 8250
GRVERYHKKL IRLPLPDDEH DLSDRELELE DSAALSDLHW HDRSADSLLS
8260 8270 8280 8290 8300
PQPSSNLSLS LAQPLRSERS GRDTPASVDS IPLEWDHDYD LSRDLESAMS
8310 8320 8330 8340 8350
RALPSEDEEG QDDKDFYLRG AVGLSGDHSA LESQIRQLGK ALDDSRFQIQ
8360 8370 8380 8390 8400
QTENIIRSKT PTGPELDTSY KGYMKLLGEC SSSIDSVKRL EHKLKEEEES
8410 8420 8430 8440 8450
LPGFVNLHST ETQTAGVIDR WELLQAQALS KELRMKQNLQ KWQQFNSDLN
8460 8470 8480 8490 8500
SIWAWLGDTE EELEQLQRLE LSTDIQTIEL QIKKLKELQK AVDHRKAIIL
8510 8520 8530 8540 8550
SINLCSPEFT QADSKESRDL QDRLSQMNGR WDRVCSLLEE WRGLLQDALM
8560 8570 8580 8590 8600
QCQGFHEMSH GLLLMLENID RRKNEIVPID SNLDAEILQD HHKQLMQIKH
8610 8620 8630 8640 8650
ELLESQLRVA SLQDMSCQLL VNAEGTDCLE AKEKVHVIGN RLKLLLKEVS
8660 8670 8680 8690 8700
RHIKELEKLL DVSSSQQDLS SWSSADELDT SGSVSPTSGR STPNRQKTPR
8710 8720 8730 8740 8750
GKCSLSQPGP SVSSPHSRST KGGSDSSLSE PGPGRSGRGF LFRVLRAALP
8760 8770 8780 8790
LQLLLLLLIG LACLVPMSEE DYSCALSNNF ARSFHPMLRY TNGPPPL
The sequence of this isoform differs from the canonical sequence as follows:
297-313: Missing.
3049-3049: C → W
3050-8797: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-7658: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-2918: Missing.
3325-3394: ALLSVKQEKE...EGALSKWTSY → VCIFTQKYLQ...PGCFPKNKIK
3395-8797: Missing.
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 98 | F → L in AAN60442 (PubMed:12408964).Curated | 1 | |
Sequence conflicti | 494 | S → P in AAM95335 (PubMed:12808039).Curated | 1 | |
Sequence conflicti | 1440 | T → P in CAD28486 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 3096 | N → D in BAB71097 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 5526 | A → T in AAL33798 (PubMed:11792814).Curated | 1 | |
Sequence conflicti | 5564 | E → K in AAL33798 (PubMed:11792814).Curated | 1 | |
Sequence conflicti | 5735 | E → A in AAN03486 (PubMed:15093733).Curated | 1 | |
Sequence conflicti | 6549 | K → E in AAL33798 (PubMed:11792814).Curated | 1 | |
Sequence conflicti | 6549 | K → E in AAN60442 (PubMed:12408964).Curated | 1 | |
Sequence conflicti | 6549 | K → E in AAO27774 (Ref. 6) Curated | 1 | |
Sequence conflicti | 6626 | L → P in AAL33798 (PubMed:11792814).Curated | 1 | |
Sequence conflicti | 6626 | L → P in AAN60442 (PubMed:12408964).Curated | 1 | |
Sequence conflicti | 6626 | L → P in AAO27774 (Ref. 6) Curated | 1 | |
Sequence conflicti | 6645 | E → V in AAL33798 (PubMed:11792814).Curated | 1 | |
Sequence conflicti | 6645 | E → V in AAN60442 (PubMed:12408964).Curated | 1 | |
Sequence conflicti | 6645 | E → V in AAO27774 (Ref. 6) Curated | 1 | |
Sequence conflicti | 6923 | I → T in AAL33798 (PubMed:11792814).Curated | 1 | |
Sequence conflicti | 6923 | I → T in AAN60442 (PubMed:12408964).Curated | 1 | |
Sequence conflicti | 6923 | I → T in AAO27774 (Ref. 6) Curated | 1 | |
Sequence conflicti | 6929 | V → A in AAL33798 (PubMed:11792814).Curated | 1 | |
Sequence conflicti | 6929 | V → A in AAN60442 (PubMed:12408964).Curated | 1 | |
Sequence conflicti | 6929 | V → A in AAO27774 (Ref. 6) Curated | 1 | |
Sequence conflicti | 7075 | E → D in AAL33798 (PubMed:11792814).Curated | 1 | |
Sequence conflicti | 7075 | E → D in AAN60442 (PubMed:12408964).Curated | 1 | |
Sequence conflicti | 7075 | E → D in AAO27774 (Ref. 6) Curated | 1 | |
Sequence conflicti | 7091 | N → T in AAL33798 (PubMed:11792814).Curated | 1 | |
Sequence conflicti | 7091 | N → T in AAN60442 (PubMed:12408964).Curated | 1 | |
Sequence conflicti | 7091 | N → T in AAO27774 (Ref. 6) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_056211 | 655 | Q → R Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs9397509Ensembl. | 1 | |
Natural variantiVAR_056212 | 885 | L → V. Corresponds to variant dbSNP:rs17082709Ensembl. | 1 | |
Natural variantiVAR_056213 | 1035 | V → A. Corresponds to variant dbSNP:rs214976Ensembl. | 1 | |
Natural variantiVAR_074190 | 1062 | R → S1 Publication | 1 | |
Natural variantiVAR_056214 | 2030 | S → G. Corresponds to variant dbSNP:rs35763277Ensembl. | 1 | |
Natural variantiVAR_056215 | 2795 | A → V. Corresponds to variant dbSNP:rs214950Ensembl. | 1 | |
Natural variantiVAR_070561 | 3088 | A → T Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398123005Ensembl. | 1 | |
Natural variantiVAR_036250 | 3671 | V → M in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs567753957Ensembl. | 1 | |
Natural variantiVAR_056216 | 3874 | K → T. Corresponds to variant dbSNP:rs13210127Ensembl. | 1 | |
Natural variantiVAR_070562 | 3892 | L → S Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs180727534Ensembl. | 1 | |
Natural variantiVAR_056217 | 3954 | S → T. Corresponds to variant dbSNP:rs7775119Ensembl. | 1 | |
Natural variantiVAR_056218 | 4060 | E → D. Corresponds to variant dbSNP:rs4645434Ensembl. | 1 | |
Natural variantiVAR_056219 | 4121 | K → N. Corresponds to variant dbSNP:rs28385621Ensembl. | 1 | |
Natural variantiVAR_056220 | 4121 | K → R. Corresponds to variant dbSNP:rs9479297Ensembl. | 1 | |
Natural variantiVAR_056221 | 4203 | E → K. Corresponds to variant dbSNP:rs2130262Ensembl. | 1 | |
Natural variantiVAR_036251 | 4210 | E → D in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_036252 | 4223 | R → H in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs140492158Ensembl. | 1 | |
Natural variantiVAR_056222 | 4546 | V → I. Corresponds to variant dbSNP:rs4870093Ensembl. | 1 | |
Natural variantiVAR_056223 | 4596 | S → T2 PublicationsCorresponds to variant dbSNP:rs6911096Ensembl. | 1 | |
Natural variantiVAR_056224 | 4944 | L → M. Corresponds to variant dbSNP:rs2306916Ensembl. | 1 | |
Natural variantiVAR_056225 | 5015 | L → M2 PublicationsCorresponds to variant dbSNP:rs2306916Ensembl. | 1 | |
Natural variantiVAR_056226 | 5377 | M → L. Corresponds to variant dbSNP:rs35987150Ensembl. | 1 | |
Natural variantiVAR_056227 | 5426 | T → M. Corresponds to variant dbSNP:rs2306914Ensembl. | 1 | |
Natural variantiVAR_036253 | 5507 | L → R in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_056228 | 6566 | M → I. Corresponds to variant dbSNP:rs35654757Ensembl. | 1 | |
Natural variantiVAR_056229 | 6664 | T → I. Corresponds to variant dbSNP:rs35079654Ensembl. | 1 | |
Natural variantiVAR_056230 | 6951 | Q → H. Corresponds to variant dbSNP:rs3945783Ensembl. | 1 | |
Natural variantiVAR_056231 | 7302 | F → V4 PublicationsCorresponds to variant dbSNP:rs2147377Ensembl. | 1 | |
Natural variantiVAR_056232 | 7506 | S → G. Corresponds to variant dbSNP:rs35763277Ensembl. | 1 | |
Natural variantiVAR_062974 | 8095 | R → H in EDMD4. 1 PublicationCorresponds to variant dbSNP:rs119103246Ensembl. | 1 | |
Natural variantiVAR_056233 | 8161 | N → H. Corresponds to variant dbSNP:rs36215251Ensembl. | 1 | |
Natural variantiVAR_056234 | 8168 | A → S. Corresponds to variant dbSNP:rs17082236Ensembl. | 1 | |
Natural variantiVAR_015548 | 8323 | G → A5 PublicationsCorresponds to variant dbSNP:rs2252755Ensembl. | 1 | |
Natural variantiVAR_062975 | 8387 | V → L in EDMD4. 1 PublicationCorresponds to variant dbSNP:rs119103247Ensembl. | 1 | |
Natural variantiVAR_062976 | 8461 | E → K in EDMD4. 1 PublicationCorresponds to variant dbSNP:rs119103248Ensembl. | 1 | |
Natural variantiVAR_036254 | 8468 | R → H in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs143049227Ensembl. | 1 | |
Natural variantiVAR_056235 | 8687 | T → I. Corresponds to variant dbSNP:rs35591210Ensembl. | 1 | |
Natural variantiVAR_056236 | 8741 | L → M. Corresponds to variant dbSNP:rs2295190Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_007133 | 1 – 7843 | Missing in isoform 9. 1 PublicationAdd BLAST | 7843 | |
Alternative sequenceiVSP_007132 | 1 – 7838 | Missing in isoform 3. 1 PublicationAdd BLAST | 7838 | |
Alternative sequenceiVSP_057476 | 1 – 7658 | Missing in isoform 11. 1 PublicationAdd BLAST | 7658 | |
Alternative sequenceiVSP_007131 | 1 – 5585 | Missing in isoform 8. 1 PublicationAdd BLAST | 5585 | |
Alternative sequenceiVSP_007130 | 1 – 5476 | Missing in isoform 2. 1 PublicationAdd BLAST | 5476 | |
Alternative sequenceiVSP_057477 | 1 – 2918 | Missing in isoform GSRP-56. 1 PublicationAdd BLAST | 2918 | |
Alternative sequenceiVSP_007134 | 103 | K → KSMHRGSP in isoform 4. 1 Publication | 1 | |
Alternative sequenceiVSP_057478 | 297 – 313 | Missing in isoform 10. 1 PublicationAdd BLAST | 17 | |
Alternative sequenceiVSP_007135 | 1437 – 1443 | DIKTMEM → EYVIDKS in isoform 5. 1 Publication | 7 | |
Alternative sequenceiVSP_007136 | 1444 – 8797 | Missing in isoform 5. 1 PublicationAdd BLAST | 7354 | |
Alternative sequenceiVSP_007137 | 1702 – 1725 | LQNEV…ESLFS → SSRKCEEGKNKMLFVTVTLF KIIK in isoform 6. 1 PublicationAdd BLAST | 24 | |
Alternative sequenceiVSP_007138 | 1726 – 8797 | Missing in isoform 6. 1 PublicationAdd BLAST | 7072 | |
Alternative sequenceiVSP_057479 | 3049 | C → W in isoform 10. 1 Publication | 1 | |
Alternative sequenceiVSP_057480 | 3050 – 8797 | Missing in isoform 10. 1 PublicationAdd BLAST | 5748 | |
Alternative sequenceiVSP_057481 | 3325 – 3394 | ALLSV…KWTSY → VCIFTQKYLQPTEFVFLKIS RLHPPGVMMSHSLHDKSQML CECNAVCLGCTCQRIPESSD PGCFPKNKIK in isoform GSRP-56. 1 PublicationAdd BLAST | 70 | |
Alternative sequenceiVSP_057482 | 3395 – 8797 | Missing in isoform GSRP-56. 1 PublicationAdd BLAST | 5403 | |
Alternative sequenceiVSP_007139 | 3620 – 3641 | Missing in isoform 4. 1 PublicationAdd BLAST | 22 | |
Alternative sequenceiVSP_007140 | 3912 – 3967 | Missing in isoform 4. 1 PublicationAdd BLAST | 56 | |
Alternative sequenceiVSP_007141 | 5571 – 5580 | TLLEESKEID → VTLGKIIFKK in isoform 7. 1 Publication | 10 | |
Alternative sequenceiVSP_007142 | 5581 – 8797 | Missing in isoform 7. 1 PublicationAdd BLAST | 3217 | |
Alternative sequenceiVSP_007143 | 7844 – 7874 | AKASH…LDLIA → MVVAEDLSALRMAEDGCVDA DLPDCNCDVTR in isoform 9. 1 PublicationAdd BLAST | 31 | |
Alternative sequenceiVSP_007144 | 8325 | S → SDVMIPESPEAYVKLTENAI KNTS in isoform 3, isoform 4 and isoform 9. 3 Publications | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY061755 mRNA. Translation: AAL33798.1. AY061756 mRNA. Translation: AAL33799.1. AY184203 mRNA. Translation: AAO27771.1. AY184206 mRNA. Translation: AAO27774.1. AF535142 mRNA. Translation: AAN03486.1. AF444779 mRNA. Translation: AAL38031.1. FM162565 mRNA. Translation: CAQ57272.1. AF495910 mRNA. Translation: AAN60442.1. AL049548 Genomic DNA. No translation available. AL136079 Genomic DNA. No translation available. AL589963 Genomic DNA. No translation available. AL591507 Genomic DNA. No translation available. AL450401, AL078582, AL138832 Genomic DNA. Translation: CAI40728.1. AL450401 AL357081 Genomic DNA. Translation: CAI40729.1. AL357081 AL450401 Genomic DNA. Translation: CAI41322.1. AL078582, AL138832, AL450401 Genomic DNA. Translation: CAI42283.1. AL078582 AL450401 Genomic DNA. Translation: CAI42284.1. AL138832, AL078582, AL450401 Genomic DNA. Translation: CAI42785.1. AL138832 AL450401 Genomic DNA. Translation: CAI42786.1. KF458330 Genomic DNA. No translation available. BC039121 mRNA. Translation: AAH39121.1. Different initiation. AY135172 mRNA. Translation: AAM95335.1. Sequence problems. AY183142 mRNA. Translation: AAO23669.1. AK056122 mRNA. Translation: BAB71097.1. Sequence problems. AK094094 mRNA. Translation: BAC04284.1. Different initiation. AB051543 mRNA. Translation: BAB21847.1. AL713682 mRNA. Translation: CAD28486.2. Different initiation. AB033088 mRNA. Translation: BAA86576.1. AB018339 mRNA. Translation: BAA34516.2. AF043290 mRNA. Translation: AAC02992.2. Different initiation. |
CCDSi | CCDS5235.1. [Q8NF91-4] CCDS5236.2. [Q8NF91-1] |
RefSeqi | NP_001334631.1. NM_001347702.1. NP_149062.1. NM_033071.3. NP_892006.3. NM_182961.3. [Q8NF91-1] |
UniGenei | Hs.12967. |
Genome annotation databases
Ensembli | ENST00000367253; ENSP00000356222; ENSG00000131018. [Q8NF91-6] ENST00000367255; ENSP00000356224; ENSG00000131018. [Q8NF91-1] ENST00000413186; ENSP00000414510; ENSG00000131018. [Q8NF91-5] |
GeneIDi | 23345. |
KEGGi | hsa:23345. |
UCSCi | uc003qot.5. human. [Q8NF91-1] uc003qov.4. human. |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | SYNE1_HUMAN | |
Accessioni | Q8NF91Primary (citable) accession number: Q8NF91 Secondary accession number(s): B3W695 Q9ULF8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 11, 2003 |
Last sequence update: | November 28, 2012 | |
Last modified: | March 28, 2018 | |
This is version 171 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. |