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Protein

Nesprin-1

Gene

SYNE1

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

Functioni

Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. Component of SUN-protein-containing multivariate complexes also called LINC complexes which link the nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal filaments. May be involved in the maintenance of nuclear organization and structural integrity. Connects nuclei to the cytoskeleton by interacting with the nuclear envelope and with F-actin in the cytoplasm. May be required for centrosome migration to the apical cell surface during early ciliogenesis.2 Publications

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • actin filament binding Source: UniProtKB
  • lamin binding Source: UniProtKB
  • poly(A) RNA binding Source: UniProtKB
  • protein homodimerization activity 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
Complete GO annotation...

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131018-MONOMER.
ReactomeiR-HSA-1221632. Meiotic synapsis.

Names & Taxonomyi

Protein namesi
Recommended name:
Nesprin-1
Alternative name(s):
Enaptin
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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:17089. SYNE1.

Subcellular locationi

Isoform GSRP-56 :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 8746CytoplasmicPROSITE-ProRule annotationAdd BLAST8746
Transmembranei8747 – 8767Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd BLAST21
Topological domaini8768 – 8797Perinuclear spacePROSITE-ProRule annotationAdd BLAST30

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytoskeleton Source: UniProtKB-SubCell
  • Golgi apparatus Source: UniProtKB
  • integral component of membrane Source: UniProtKB
  • LINC complex Source: UniProtKB
  • nuclear envelope Source: UniProtKB
  • nuclear membrane Source: HPA
  • nuclear outer membrane Source: UniProtKB-SubCell
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • postsynaptic membrane Source: UniProtKB
  • sarcomere Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form.
See also OMIM:610743
Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
See also OMIM:612998
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0629748095R → H in EDMD4. 1 PublicationCorresponds to variant rs119103246dbSNPEnsembl.1
Natural variantiVAR_0629758387V → L in EDMD4. 1 PublicationCorresponds to variant rs119103247dbSNPEnsembl.1
Natural variantiVAR_0629768461E → K in EDMD4. 1 PublicationCorresponds to variant rs119103248dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi8758 – 8763Missing : Abolishes the nuclear envelope targeting, induces a cytoplasmic localization. 1 Publication6

Keywords - Diseasei

Disease mutation, Emery-Dreifuss muscular dystrophy, Neurodegeneration

Organism-specific databases

DisGeNETi23345.
MalaCardsiSYNE1.
MIMi610743. phenotype.
612998. phenotype.
OpenTargetsiENSG00000131018.
Orphaneti98853. Autosomal dominant Emery-Dreifuss muscular dystrophy.
88644. Autosomal recessive ataxia, Beauce type.
319332. Autosomal recessive myogenic arthrogryposis multiplex congenita.
PharmGKBiPA134975331.

Polymorphism and mutation databases

BioMutaiSYNE1.
DMDMi425906075.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001635911 – 8797Nesprin-1Add BLAST8797

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei732PhosphoserineBy similarity1
Modified residuei2270PhosphothreonineBy similarity1
Modified residuei5657PhosphoserineBy similarity1
Modified residuei8223PhosphoserineCombined sources1
Modified residuei8274PhosphothreonineCombined sources1
Modified residuei8277PhosphoserineCombined sources1
Modified residuei8280PhosphoserineCombined sources1
Modified residuei8305PhosphoserineBy similarity1
Modified residuei8360PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NF91.
MaxQBiQ8NF91.
PaxDbiQ8NF91.
PeptideAtlasiQ8NF91.
PRIDEiQ8NF91.

PTM databases

iPTMnetiQ8NF91.
PhosphoSitePlusiQ8NF91.

Expressioni

Tissue specificityi

Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isoform GSRP-56 is predominantly expressed in heart and skeletal muscle (at protein level).5 Publications

Gene expression databases

BgeeiENSG00000131018.
ExpressionAtlasiQ8NF91. baseline and differential.
GenevisibleiQ8NF91. HS.

Organism-specific databases

HPAiHPA019113.

Interactioni

Subunit structurei

Dimer. Core component of the LINC complex which is composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN domain-containing proteins interact with A-type lamins of the nuclear lamina, while at the other end of the complex, nesprins interact with unique cytoskeletal components. Interacts with SYNE3. May interact with MUSK (By similarity). Interacts with F-actin via its N-terminal domain (By similarity). Interacts with EMD and LMNA in vitro.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DISC1Q9NRI56EBI-928867,EBI-529989
EMDP504025EBI-10760352,EBI-489887
SUN1O949012EBI-6170938,EBI-2796904
SUN2Q9UH993EBI-928867,EBI-1044964

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • actin filament binding Source: UniProtKB
  • lamin binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi116928. 34 interactors.
IntActiQ8NF91. 20 interactors.
MINTiMINT-6489007.
STRINGi9606.ENSP00000356224.

Structurei

Secondary structure

18797
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi8780 – 8782Combined sources3
Beta strandi8783 – 8785Combined sources3
Beta strandi8787 – 8793Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4DXRX-ray2.32B8769-8797[»]
ProteinModelPortaliQ8NF91.
SMRiQ8NF91.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 289Actin-bindingAdd BLAST289
Domaini27 – 134CH 1PROSITE-ProRule annotationAdd BLAST108
Domaini178 – 283CH 2PROSITE-ProRule annotationAdd BLAST106
Repeati314 – 397Spectrin 1Add BLAST84
Repeati398 – 502Spectrin 2Add BLAST105
Repeati503 – 609Spectrin 3Add BLAST107
Repeati610 – 703Spectrin 4Add BLAST94
Repeati704 – 815Spectrin 5Add BLAST112
Repeati816 – 923Spectrin 6Add BLAST108
Repeati924 – 1024Spectrin 7Add BLAST101
Repeati1025 – 1122Spectrin 8Add BLAST98
Repeati1123 – 1246Spectrin 9Add BLAST124
Repeati1247 – 1335Spectrin 10Add BLAST89
Repeati1336 – 1444Spectrin 11Add BLAST109
Repeati1445 – 1550Spectrin 12Add BLAST106
Repeati1551 – 1653Spectrin 13Add BLAST103
Repeati1654 – 1763Spectrin 14Add BLAST110
Repeati1764 – 1879Spectrin 15Add BLAST116
Repeati1880 – 1976Spectrin 16Add BLAST97
Repeati1977 – 2081Spectrin 17Add BLAST105
Repeati2082 – 2195Spectrin 18Add BLAST114
Repeati2196 – 2303Spectrin 19Add BLAST108
Repeati2304 – 2401Spectrin 20Add BLAST98
Repeati2402 – 2513Spectrin 21Add BLAST112
Repeati2514 – 2619Spectrin 22Add BLAST106
Repeati2620 – 2731Spectrin 23Add BLAST112
Repeati2732 – 2838Spectrin 24Add BLAST107
Repeati2839 – 2962Spectrin 25Add BLAST124
Repeati2963 – 3062Spectrin 26Add BLAST100
Repeati3063 – 3171Spectrin 27Add BLAST109
Repeati3172 – 3275Spectrin 28Add BLAST104
Repeati3276 – 3387Spectrin 29Add BLAST112
Repeati3388 – 3490Spectrin 30Add BLAST103
Repeati3491 – 3593Spectrin 31Add BLAST103
Repeati3594 – 3720Spectrin 32Add BLAST127
Repeati3721 – 3814Spectrin 33Add BLAST94
Repeati3815 – 3920Spectrin 34Add BLAST106
Repeati3921 – 4028Spectrin 35Add BLAST108
Repeati4029 – 4139Spectrin 36Add BLAST111
Repeati4140 – 4235Spectrin 37Add BLAST96
Repeati4236 – 4339Spectrin 38Add BLAST104
Repeati4340 – 4451Spectrin 39Add BLAST112
Repeati4452 – 4560Spectrin 40Add BLAST109
Repeati4561 – 4669Spectrin 41Add BLAST109
Repeati4670 – 4776Spectrin 42Add BLAST107
Repeati4777 – 4882Spectrin 43Add BLAST106
Repeati4883 – 4991Spectrin 44Add BLAST109
Repeati4992 – 5099Spectrin 45Add BLAST108
Repeati5100 – 5209Spectrin 46Add BLAST110
Repeati5210 – 5318Spectrin 47Add BLAST109
Repeati5319 – 5424Spectrin 48Add BLAST106
Repeati5425 – 5522Spectrin 49Add BLAST98
Repeati5523 – 5630Spectrin 50Add BLAST108
Repeati5631 – 5736Spectrin 51Add BLAST106
Repeati5737 – 5842Spectrin 52Add BLAST106
Repeati5962 – 6071Spectrin 53Add BLAST110
Repeati6072 – 6178Spectrin 54Add BLAST107
Repeati6374 – 6485Spectrin 55Add BLAST112
Repeati6486 – 6581Spectrin 56Add BLAST96
Repeati6582 – 6691Spectrin 57Add BLAST110
Repeati6692 – 6795Spectrin 58Add BLAST104
Repeati6796 – 6902Spectrin 59Add BLAST107
Repeati6903 – 7020Spectrin 60Add BLAST118
Repeati7021 – 7128Spectrin 61Add BLAST108
Repeati7129 – 7237Spectrin 62Add BLAST109
Repeati7238 – 7350Spectrin 63Add BLAST113
Repeati7351 – 7454Spectrin 64Add BLAST104
Repeati7455 – 7558Spectrin 65Add BLAST104
Repeati7559 – 7671Spectrin 66Add BLAST113
Repeati7672 – 7783Spectrin 67Add BLAST112
Repeati7784 – 7883Spectrin 68Add BLAST100
Repeati7884 – 7997Spectrin 69Add BLAST114
Repeati7998 – 8106Spectrin 70Add BLAST109
Repeati8107 – 8216Spectrin 71Add BLAST110
Repeati8329 – 8438Spectrin 72Add BLAST110
Repeati8439 – 8548Spectrin 73Add BLAST110
Repeati8549 – 8666Spectrin 74Add BLAST118
Domaini8738 – 8797KASHPROSITE-ProRule annotationAdd BLAST60

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili314 – 8666Sequence analysisAdd BLAST8353

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi8663 – 8729Ser-richAdd BLAST67

Domaini

The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.1 Publication

Sequence similaritiesi

Belongs to the nesprin family.Curated
Contains 1 actin-binding domain.Curated
Contains 2 CH (calponin-homology) domains.PROSITE-ProRule annotation
Contains 1 KASH domain.PROSITE-ProRule annotation
Contains 74 spectrin repeats.Curated

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0516. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000118813.
HOVERGENiHBG066187.
InParanoidiQ8NF91.
KOiK19326.
OMAiQVRCAEG.
OrthoDBiEOG091G0007.
TreeFamiTF329280.

Family and domain databases

CDDicd00014. CH. 2 hits.
Gene3Di1.10.418.10. 2 hits.
InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR012315. KASH.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
IPR030265. SYNE1.
[Graphical view]
PANTHERiPTHR11915:SF267. PTHR11915:SF267. 10 hits.
PfamiPF00307. CH. 2 hits.
PF10541. KASH. 1 hit.
PF00435. Spectrin. 10 hits.
[Graphical view]
SMARTiSM00033. CH. 2 hits.
SM01249. KASH. 1 hit.
SM00150. SPEC. 45 hits.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 2 hits.
PROSITEiPS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
PS51049. KASH. 1 hit.
[Graphical view]

Sequences (12)i

Sequence statusi: Complete.

This entry describes 12 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NF91-1) [UniParc]FASTAAdd to basket
Also known as: Nesprin-1 Giant, Enaptin

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
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
Length:8,797
Mass (Da):1,011,086
Last modified:November 28, 2012 - v4
Checksum:i02A53B8AFBF34A17
GO
Isoform 2 (identifier: Q8NF91-2) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     1-5476: Missing.

Show »
Length:3,321
Mass (Da):380,360
Checksum:iDEAC32C9FD296ABD
GO
Isoform 3 (identifier: Q8NF91-3) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1-7838: Missing.
     8325-8325: S → SDVMIPESPEAYVKLTENAIKNTS

Show »
Length:982
Mass (Da):112,393
Checksum:i332A6E5ABA5A2248
GO
Isoform 4 (identifier: Q8NF91-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-103: K → KSMHRGSP
     3620-3641: Missing.
     3912-3967: Missing.
     8325-8325: S → SDVMIPESPEAYVKLTENAIKNTS

Show »
Length:8,749
Mass (Da):1,005,239
Checksum:i2D846CDD4BC30A8D
GO
Isoform 5 (identifier: Q8NF91-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1437-1443: DIKTMEM → EYVIDKS
     1444-8797: Missing.

Note: No experimental confirmation available.
Show »
Length:1,443
Mass (Da):167,250
Checksum:i01D6C47A6D74C395
GO
Isoform 6 (identifier: Q8NF91-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1702-1725: LQNEVVSQASFYSKLLQLKESLFS → SSRKCEEGKNKMLFVTVTLFKIIK
     1726-8797: Missing.

Note: No experimental confirmation available.
Show »
Length:1,725
Mass (Da):199,267
Checksum:i1ED934CA22A45E49
GO
Isoform 7 (identifier: Q8NF91-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     5571-5580: TLLEESKEID → VTLGKIIFKK
     5581-8797: Missing.

Note: No experimental confirmation available.
Show »
Length:5,580
Mass (Da):642,672
Checksum:iEEDEA59F5A4DBD2A
GO
Isoform 8 (identifier: Q8NF91-8) [UniParc]FASTAAdd to basket
Also known as: Beta 2

The sequence of this isoform differs from the canonical sequence as follows:
     1-5585: Missing.

Show »
Length:3,212
Mass (Da):367,873
Checksum:i9D23ECB198DE3636
GO
Isoform 9 (identifier: Q8NF91-9) [UniParc]FASTAAdd to basket
Also known as: Alpha 2

The sequence of this isoform differs from the canonical sequence as follows:
     1-7843: Missing.
     7844-7874: AKASHESKASEIEYKLGKVNDRWQHLLDLIA → MVVAEDLSALRMAEDGCVDADLPDCNCDVTR
     8325-8325: S → SDVMIPESPEAYVKLTENAIKNTS

Show »
Length:977
Mass (Da):111,583
Checksum:i621DAF9F731FEC9F
GO
Isoform 10 (identifier: Q8NF91-10) [UniParc]FASTAAdd to basket
Also known as: drop1

The sequence of this isoform differs from the canonical sequence as follows:
     297-313: Missing.
     3049-3049: C → W
     3050-8797: Missing.

Note: Lost in uterus, cervix, kidney, lung, thyroid and pancreas carcinomas, already at early tumor stages.1 Publication
Show »
Length:3,032
Mass (Da):349,010
Checksum:iD13770B93FD427D8
GO
Isoform 11 (identifier: Q8NF91-11) [UniParc]FASTAAdd to basket
Also known as: myne-1, 131kDa

The sequence of this isoform differs from the canonical sequence as follows:
     1-7658: Missing.

Note: Muscle-specific.
Show »
Length:1,139
Mass (Da):131,185
Checksum:iE075A5CDBDAAFC43
GO
Isoform GSRP-56 (identifier: Q8NF91-12) [UniParc]FASTAAdd to basket
Also known as: 56kDa

The sequence of this isoform differs from the canonical sequence as follows:
     1-2918: Missing.
     3325-3394: ALLSVKQEKE...EGALSKWTSY → VCIFTQKYLQ...PGCFPKNKIK
     3395-8797: Missing.

Note: Interacts with TRPV2.1 Publication
Show »
Length:476
Mass (Da):54,914
Checksum:i96F892E4F14839B4
GO

Sequence cautioni

The sequence AAC02992 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH39121 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAM95335 differs from that shown. Contaminating sequence. Sequence of unknown origin.Curated
The sequence BAB71097 differs from that shown. Chimeric cDNA.Curated
The sequence BAC04284 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD28486 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti98F → L in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti494S → P in AAM95335 (PubMed:12808039).Curated1
Sequence conflicti1440T → P in CAD28486 (PubMed:17974005).Curated1
Sequence conflicti3096N → D in BAB71097 (PubMed:14702039).Curated1
Sequence conflicti5526A → T in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti5564E → K in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti5735E → A in AAN03486 (PubMed:15093733).Curated1
Sequence conflicti6549K → E in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti6549K → E in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti6549K → E in AAO27774 (Ref. 6) Curated1
Sequence conflicti6626L → P in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti6626L → P in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti6626L → P in AAO27774 (Ref. 6) Curated1
Sequence conflicti6645E → V in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti6645E → V in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti6645E → V in AAO27774 (Ref. 6) Curated1
Sequence conflicti6923I → T in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti6923I → T in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti6923I → T in AAO27774 (Ref. 6) Curated1
Sequence conflicti6929V → A in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti6929V → A in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti6929V → A in AAO27774 (Ref. 6) Curated1
Sequence conflicti7075E → D in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti7075E → D in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti7075E → D in AAO27774 (Ref. 6) Curated1
Sequence conflicti7091N → T in AAL33798 (PubMed:11792814).Curated1
Sequence conflicti7091N → T in AAN60442 (PubMed:12408964).Curated1
Sequence conflicti7091N → T in AAO27774 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_056211655Q → R Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant rs9397509dbSNPEnsembl.1
Natural variantiVAR_056212885L → V.Corresponds to variant rs17082709dbSNPEnsembl.1
Natural variantiVAR_0562131035V → A.Corresponds to variant rs214976dbSNPEnsembl.1
Natural variantiVAR_0741901062R → S.1 Publication1
Natural variantiVAR_0562142030S → G.Corresponds to variant rs35763277dbSNPEnsembl.1
Natural variantiVAR_0562152795A → V.Corresponds to variant rs214950dbSNPEnsembl.1
Natural variantiVAR_0705613088A → T Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant rs398123005dbSNPEnsembl.1
Natural variantiVAR_0362503671V → M in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs567753957dbSNPEnsembl.1
Natural variantiVAR_0562163874K → T.Corresponds to variant rs13210127dbSNPEnsembl.1
Natural variantiVAR_0705623892L → S Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant rs180727534dbSNPEnsembl.1
Natural variantiVAR_0562173954S → T.Corresponds to variant rs7775119dbSNPEnsembl.1
Natural variantiVAR_0562184060E → D.Corresponds to variant rs4645434dbSNPEnsembl.1
Natural variantiVAR_0562194121K → N.Corresponds to variant rs28385621dbSNPEnsembl.1
Natural variantiVAR_0562204121K → R.Corresponds to variant rs9479297dbSNPEnsembl.1
Natural variantiVAR_0562214203E → K.Corresponds to variant rs2130262dbSNPEnsembl.1
Natural variantiVAR_0362514210E → D in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0362524223R → H in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs140492158dbSNPEnsembl.1
Natural variantiVAR_0562224546V → I.Corresponds to variant rs4870093dbSNPEnsembl.1
Natural variantiVAR_0562234596S → T.2 PublicationsCorresponds to variant rs6911096dbSNPEnsembl.1
Natural variantiVAR_0562244944L → M.Corresponds to variant rs2306916dbSNPEnsembl.1
Natural variantiVAR_0562255015L → M.2 PublicationsCorresponds to variant rs2306916dbSNPEnsembl.1
Natural variantiVAR_0562265377M → L.Corresponds to variant rs35987150dbSNPEnsembl.1
Natural variantiVAR_0562275426T → M.Corresponds to variant rs2306914dbSNPEnsembl.1
Natural variantiVAR_0362535507L → R in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0562286566M → I.Corresponds to variant rs35654757dbSNPEnsembl.1
Natural variantiVAR_0562296664T → I.Corresponds to variant rs35079654dbSNPEnsembl.1
Natural variantiVAR_0562306951Q → H.Corresponds to variant rs3945783dbSNPEnsembl.1
Natural variantiVAR_0562317302F → V.4 PublicationsCorresponds to variant rs2147377dbSNPEnsembl.1
Natural variantiVAR_0562327506S → G.Corresponds to variant rs35763277dbSNPEnsembl.1
Natural variantiVAR_0629748095R → H in EDMD4. 1 PublicationCorresponds to variant rs119103246dbSNPEnsembl.1
Natural variantiVAR_0562338161N → H.Corresponds to variant rs36215251dbSNPEnsembl.1
Natural variantiVAR_0562348168A → S.Corresponds to variant rs17082236dbSNPEnsembl.1
Natural variantiVAR_0155488323G → A.5 PublicationsCorresponds to variant rs2252755dbSNPEnsembl.1
Natural variantiVAR_0629758387V → L in EDMD4. 1 PublicationCorresponds to variant rs119103247dbSNPEnsembl.1
Natural variantiVAR_0629768461E → K in EDMD4. 1 PublicationCorresponds to variant rs119103248dbSNPEnsembl.1
Natural variantiVAR_0362548468R → H in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs143049227dbSNPEnsembl.1
Natural variantiVAR_0562358687T → I.Corresponds to variant rs35591210dbSNPEnsembl.1
Natural variantiVAR_0562368741L → M.Corresponds to variant rs2295190dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0071331 – 7843Missing in isoform 9. 1 PublicationAdd BLAST7843
Alternative sequenceiVSP_0071321 – 7838Missing in isoform 3. 1 PublicationAdd BLAST7838
Alternative sequenceiVSP_0574761 – 7658Missing in isoform 11. 1 PublicationAdd BLAST7658
Alternative sequenceiVSP_0071311 – 5585Missing in isoform 8. 1 PublicationAdd BLAST5585
Alternative sequenceiVSP_0071301 – 5476Missing in isoform 2. 1 PublicationAdd BLAST5476
Alternative sequenceiVSP_0574771 – 2918Missing in isoform GSRP-56. 1 PublicationAdd BLAST2918
Alternative sequenceiVSP_007134103K → KSMHRGSP in isoform 4. 1 Publication1
Alternative sequenceiVSP_057478297 – 313Missing in isoform 10. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_0071351437 – 1443DIKTMEM → EYVIDKS in isoform 5. 1 Publication7
Alternative sequenceiVSP_0071361444 – 8797Missing in isoform 5. 1 PublicationAdd BLAST7354
Alternative sequenceiVSP_0071371702 – 1725LQNEV…ESLFS → SSRKCEEGKNKMLFVTVTLF KIIK in isoform 6. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_0071381726 – 8797Missing in isoform 6. 1 PublicationAdd BLAST7072
Alternative sequenceiVSP_0574793049C → W in isoform 10. 1 Publication1
Alternative sequenceiVSP_0574803050 – 8797Missing in isoform 10. 1 PublicationAdd BLAST5748
Alternative sequenceiVSP_0574813325 – 3394ALLSV…KWTSY → VCIFTQKYLQPTEFVFLKIS RLHPPGVMMSHSLHDKSQML CECNAVCLGCTCQRIPESSD PGCFPKNKIK in isoform GSRP-56. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_0574823395 – 8797Missing in isoform GSRP-56. 1 PublicationAdd BLAST5403
Alternative sequenceiVSP_0071393620 – 3641Missing in isoform 4. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_0071403912 – 3967Missing in isoform 4. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_0071415571 – 5580TLLEESKEID → VTLGKIIFKK in isoform 7. 1 Publication10
Alternative sequenceiVSP_0071425581 – 8797Missing in isoform 7. 1 PublicationAdd BLAST3217
Alternative sequenceiVSP_0071437844 – 7874AKASH…LDLIA → MVVAEDLSALRMAEDGCVDA DLPDCNCDVTR in isoform 9. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_0071448325S → SDVMIPESPEAYVKLTENAI KNTS in isoform 3, isoform 4 and isoform 9. 3 Publications1

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
, AL078582, AL138832, AL357081 Genomic DNA. Translation: CAI40729.1.
AL357081
, AL078582, AL138832, AL450401 Genomic DNA. Translation: CAI41322.1.
AL078582, AL138832, AL450401 Genomic DNA. Translation: CAI42283.1.
AL078582
, AL138832, AL357081, AL450401 Genomic DNA. Translation: CAI42284.1.
AL138832, AL078582, AL450401 Genomic DNA. Translation: CAI42785.1.
AL138832
, AL078582, AL357081, 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.
CCDSiCCDS5235.1. [Q8NF91-4]
CCDS5236.2. [Q8NF91-1]
RefSeqiNP_149062.1. NM_033071.3.
NP_892006.3. NM_182961.3. [Q8NF91-1]
UniGeneiHs.12967.

Genome annotation databases

EnsembliENST00000367253; ENSP00000356222; ENSG00000131018. [Q8NF91-6]
ENST00000367255; ENSP00000356224; ENSG00000131018. [Q8NF91-1]
ENST00000413186; ENSP00000414510; ENSG00000131018. [Q8NF91-5]
GeneIDi23345.
KEGGihsa:23345.
UCSCiuc003qot.5. human. [Q8NF91-1]
uc003qov.4. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Enaptin entry

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
, AL078582, AL138832, AL357081 Genomic DNA. Translation: CAI40729.1.
AL357081
, AL078582, AL138832, AL450401 Genomic DNA. Translation: CAI41322.1.
AL078582, AL138832, AL450401 Genomic DNA. Translation: CAI42283.1.
AL078582
, AL138832, AL357081, AL450401 Genomic DNA. Translation: CAI42284.1.
AL138832, AL078582, AL450401 Genomic DNA. Translation: CAI42785.1.
AL138832
, AL078582, AL357081, 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.
CCDSiCCDS5235.1. [Q8NF91-4]
CCDS5236.2. [Q8NF91-1]
RefSeqiNP_149062.1. NM_033071.3.
NP_892006.3. NM_182961.3. [Q8NF91-1]
UniGeneiHs.12967.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4DXRX-ray2.32B8769-8797[»]
ProteinModelPortaliQ8NF91.
SMRiQ8NF91.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116928. 34 interactors.
IntActiQ8NF91. 20 interactors.
MINTiMINT-6489007.
STRINGi9606.ENSP00000356224.

PTM databases

iPTMnetiQ8NF91.
PhosphoSitePlusiQ8NF91.

Polymorphism and mutation databases

BioMutaiSYNE1.
DMDMi425906075.

Proteomic databases

EPDiQ8NF91.
MaxQBiQ8NF91.
PaxDbiQ8NF91.
PeptideAtlasiQ8NF91.
PRIDEiQ8NF91.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367253; ENSP00000356222; ENSG00000131018. [Q8NF91-6]
ENST00000367255; ENSP00000356224; ENSG00000131018. [Q8NF91-1]
ENST00000413186; ENSP00000414510; ENSG00000131018. [Q8NF91-5]
GeneIDi23345.
KEGGihsa:23345.
UCSCiuc003qot.5. human. [Q8NF91-1]
uc003qov.4. human.

Organism-specific databases

CTDi23345.
DisGeNETi23345.
GeneCardsiSYNE1.
GeneReviewsiSYNE1.
HGNCiHGNC:17089. SYNE1.
HPAiHPA019113.
MalaCardsiSYNE1.
MIMi608441. gene.
610743. phenotype.
612998. phenotype.
neXtProtiNX_Q8NF91.
OpenTargetsiENSG00000131018.
Orphaneti98853. Autosomal dominant Emery-Dreifuss muscular dystrophy.
88644. Autosomal recessive ataxia, Beauce type.
319332. Autosomal recessive myogenic arthrogryposis multiplex congenita.
PharmGKBiPA134975331.
HUGEiSearch...
Search...
Search...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0516. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000118813.
HOVERGENiHBG066187.
InParanoidiQ8NF91.
KOiK19326.
OMAiQVRCAEG.
OrthoDBiEOG091G0007.
TreeFamiTF329280.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131018-MONOMER.
ReactomeiR-HSA-1221632. Meiotic synapsis.

Miscellaneous databases

ChiTaRSiSYNE1. human.
GeneWikiiEnaptin.
GenomeRNAii23345.
PROiQ8NF91.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131018.
ExpressionAtlasiQ8NF91. baseline and differential.
GenevisibleiQ8NF91. HS.

Family and domain databases

CDDicd00014. CH. 2 hits.
Gene3Di1.10.418.10. 2 hits.
InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR012315. KASH.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
IPR030265. SYNE1.
[Graphical view]
PANTHERiPTHR11915:SF267. PTHR11915:SF267. 10 hits.
PfamiPF00307. CH. 2 hits.
PF10541. KASH. 1 hit.
PF00435. Spectrin. 10 hits.
[Graphical view]
SMARTiSM00033. CH. 2 hits.
SM01249. KASH. 1 hit.
SM00150. SPEC. 45 hits.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 2 hits.
PROSITEiPS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
PS51049. KASH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSYNE1_HUMAN
AccessioniPrimary (citable) accession number: Q8NF91
Secondary accession number(s): B3W695
, E7EQI5, H0Y4C0, O94890, Q3ZCV0, Q5JV19, Q5JV22, Q8N9P7, Q8TCP1, Q8WWW6, Q8WWW7, Q8WXF6, Q96N17, Q9C0A7, Q9H525, Q9H526, Q9NS36, Q9NU50, Q9UJ06, Q9UJ07, Q9ULF8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: November 28, 2012
Last modified: November 30, 2016
This is version 161 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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.