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Q8NF91

- SYNE1_HUMAN

UniProt

Q8NF91 - SYNE1_HUMAN

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Protein

Nesprin-1

Gene

SYNE1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. actin binding Source: UniProtKB
  2. actin filament binding Source: UniProtKB
  3. lamin binding Source: UniProtKB
  4. poly(A) RNA binding Source: UniProtKB
  5. protein homodimerization activity Source: UniProtKB

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. cytoskeletal anchoring at nuclear membrane Source: UniProtKB
  3. establishment of nucleus localization Source: Ensembl
  4. Golgi organization Source: UniProtKB
  5. muscle cell differentiation Source: UniProtKB
  6. nuclear matrix anchoring at nuclear membrane Source: UniProtKB
  7. nucleus organization Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

ReactomeiREACT_75792. 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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:17089. SYNE1.

Subcellular locationi

Nucleus outer membrane Curated; Single-pass type IV membrane protein Curated; Cytoplasmic side Curated. Nucleus. Nucleus envelope. Cytoplasmcytoskeleton. Cytoplasmmyofibrilsarcomere
Note: The largest part of the protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane. In skeletal and smooth muscles, a significant amount is found in the sarcomeres. In myoblasts, relocalized from the nuclear envelope to the nucleus and cytoplasm during cell differentiation.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytoskeleton Source: UniProtKB-KW
  3. Golgi apparatus Source: UniProtKB
  4. integral component of membrane Source: UniProtKB
  5. nuclear envelope Source: UniProtKB
  6. nuclear membrane Source: HPA
  7. nucleus Source: UniProt
  8. postsynaptic membrane Source: UniProtKB
  9. sarcomere Source: MGI
  10. SUN-KASH complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8) [MIM:610743]: Spinocerebellar 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8095 – 80951R → H in EDMD4. 1 Publication
VAR_062974
Natural varianti8387 – 83871V → L in EDMD4. 1 Publication
VAR_062975
Natural varianti8461 – 84611E → K in EDMD4. 1 Publication
Corresponds to variant rs119103248 [ dbSNP | Ensembl ].
VAR_062976

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi8758 – 87636Missing: Abolishes the nuclear envelope targeting, induces a cytoplasmic localization. 1 Publication

Keywords - Diseasei

Disease mutation, Emery-Dreifuss muscular dystrophy, Neurodegeneration

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 87978797Nesprin-1PRO_0000163591Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei8223 – 82231Phosphoserine1 Publication
Modified residuei8274 – 82741Phosphothreonine1 Publication
Modified residuei8277 – 82771Phosphoserine1 Publication
Modified residuei8280 – 82801Phosphoserine1 Publication
Modified residuei8305 – 83051PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8NF91.
PaxDbiQ8NF91.
PRIDEiQ8NF91.

PTM databases

PhosphoSiteiQ8NF91.

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.4 Publications

Gene expression databases

BgeeiQ8NF91.
ExpressionAtlasiQ8NF91. baseline and differential.
GenevestigatoriQ8NF91.

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
SUN1O949012EBI-6170938,EBI-2796904
SUN2Q9UH993EBI-928867,EBI-1044964

Protein-protein interaction databases

BioGridi116928. 25 interactions.
IntActiQ8NF91. 17 interactions.
MINTiMINT-6489007.

Structurei

Secondary structure

1
8797
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi8780 – 87823
Beta strandi8783 – 87853
Beta strandi8787 – 87937

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4DXRX-ray2.32B8769-8797[»]
ProteinModelPortaliQ8NF91.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 87468746CytoplasmicPROSITE-ProRule annotationAdd
BLAST
Topological domaini8768 – 879730Perinuclear spacePROSITE-ProRule annotationAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei8747 – 876721Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 289289Actin-bindingAdd
BLAST
Domaini27 – 134108CH 1PROSITE-ProRule annotationAdd
BLAST
Domaini178 – 283106CH 2PROSITE-ProRule annotationAdd
BLAST
Repeati592 – 62433HAT 1Add
BLAST
Repeati1103 – 113533HAT 2Add
BLAST
Repeati1425 – 145733HAT 3Add
BLAST
Repeati1630 – 165223Spectrin 1Add
BLAST
Repeati1655 – 1762108Spectrin 2Add
BLAST
Repeati2176 – 220833HAT 4Add
BLAST
Repeati2339 – 240567Spectrin 3Add
BLAST
Repeati2406 – 2512107Spectrin 4Add
BLAST
Repeati2515 – 2615101Spectrin 5Add
BLAST
Repeati2705 – 274440HAT 5Add
BLAST
Repeati3173 – 3277105Spectrin 6Add
BLAST
Repeati3348 – 338639Spectrin 7Add
BLAST
Repeati3361 – 340040HAT 6Add
BLAST
Repeati3492 – 351019Spectrin 8Add
BLAST
Repeati3555 – 358834HAT 7Add
BLAST
Repeati3816 – 390792Spectrin 9Add
BLAST
Repeati3967 – 403367Spectrin 10Add
BLAST
Repeati4146 – 423893Spectrin 11Add
BLAST
Repeati4261 – 433777Spectrin 12Add
BLAST
Repeati4486 – 455974Spectrin 13Add
BLAST
Repeati4750 – 477526Spectrin 14Add
BLAST
Repeati4993 – 503543Spectrin 15Add
BLAST
Repeati5101 – 5208108Spectrin 16Add
BLAST
Repeati5569 – 562961Spectrin 17Add
BLAST
Repeati5632 – 569059Spectrin 18Add
BLAST
Repeati5738 – 579962Spectrin 19Add
BLAST
Repeati5963 – 6070108Spectrin 20Add
BLAST
Repeati6774 – 680633HAT 8Add
BLAST
Repeati6795 – 6904110Spectrin 21Add
BLAST
Repeati7001 – 703333HAT 9Add
BLAST
Repeati7022 – 7127106Spectrin 22Add
BLAST
Repeati7162 – 723069Spectrin 23Add
BLAST
Repeati7211 – 725040HAT 10Add
BLAST
Repeati7352 – 7453102Spectrin 24Add
BLAST
Repeati7456 – 7560105Spectrin 25Add
BLAST
Repeati7542 – 757433HAT 11Add
BLAST
Repeati7697 – 777781Spectrin 26Add
BLAST
Repeati7780 – 7882103Spectrin 27Add
BLAST
Repeati7885 – 7996112Spectrin 28Add
BLAST
Repeati7975 – 800733HAT 12Add
BLAST
Repeati7999 – 8105107Spectrin 29Add
BLAST
Repeati8108 – 8212105Spectrin 30Add
BLAST
Repeati8440 – 8547108Spectrin 31Add
BLAST
Domaini8738 – 879760KASHPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili327 – 34721Sequence AnalysisAdd
BLAST
Coiled coili433 – 46331Sequence AnalysisAdd
BLAST
Coiled coili625 – 65026Sequence AnalysisAdd
BLAST
Coiled coili817 – 84428Sequence AnalysisAdd
BLAST
Coiled coili925 – 95531Sequence AnalysisAdd
BLAST
Coiled coili991 – 101121Sequence AnalysisAdd
BLAST
Coiled coili1197 – 121721Sequence AnalysisAdd
BLAST
Coiled coili1270 – 1447178Sequence AnalysisAdd
BLAST
Coiled coili1549 – 157729Sequence AnalysisAdd
BLAST
Coiled coili1810 – 183021Sequence AnalysisAdd
BLAST
Coiled coili1899 – 193436Sequence AnalysisAdd
BLAST
Coiled coili1969 – 203567Sequence AnalysisAdd
BLAST
Coiled coili2086 – 210621Sequence AnalysisAdd
BLAST
Coiled coili2166 – 2270105Sequence AnalysisAdd
BLAST
Coiled coili2606 – 263631Sequence AnalysisAdd
BLAST
Coiled coili2780 – 280728Sequence AnalysisAdd
BLAST
Coiled coili2944 – 299249Sequence AnalysisAdd
BLAST
Coiled coili3773 – 381341Sequence AnalysisAdd
BLAST
Coiled coili4101 – 413030Sequence AnalysisAdd
BLAST
Coiled coili4590 – 461122Sequence AnalysisAdd
BLAST
Coiled coili4852 – 487221Sequence AnalysisAdd
BLAST
Coiled coili4913 – 494533Sequence AnalysisAdd
BLAST
Coiled coili5293 – 531321Sequence AnalysisAdd
BLAST
Coiled coili5350 – 5459110Sequence AnalysisAdd
BLAST
Coiled coili6420 – 643819Sequence AnalysisAdd
BLAST
Coiled coili6524 – 661087Sequence AnalysisAdd
BLAST
Coiled coili6693 – 671220Sequence AnalysisAdd
BLAST
Coiled coili8327 – 840175Sequence AnalysisAdd
BLAST
Coiled coili8630 – 866233Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi8663 – 872967Ser-richAdd
BLAST

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 12 HAT repeats.Curated
Contains 1 KASH domain.PROSITE-ProRule annotation
Contains 31 spectrin repeats.Curated

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5069.
GeneTreeiENSGT00760000118813.
HOVERGENiHBG066187.
InParanoidiQ8NF91.
OMAiMKWESLH.
OrthoDBiEOG72JWF7.
TreeFamiTF329280.

Family and domain databases

Gene3Di1.10.418.10. 2 hits.
InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR012315. KASH.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
[Graphical view]
PfamiPF00307. CH. 2 hits.
PF10541. KASH. 1 hit.
PF00435. Spectrin. 10 hits.
[Graphical view]
SMARTiSM00033. CH. 2 hits.
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 (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. Align

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.

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        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

Sequence cautioni

The sequence AAM95335.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin.
The sequence BAB71097.1 differs from that shown. Reason: Chimeric cDNA.
The sequence AAC02992.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAL38031.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAC04284.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence CAD28486.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti98 – 981F → L in AAN60442. (PubMed:12408964)Curated
Sequence conflicti494 – 4941S → P in AAM95335. (PubMed:12808039)Curated
Sequence conflicti1440 – 14401T → P in CAD28486. (PubMed:17974005)Curated
Sequence conflicti3096 – 30961N → D in BAB71097. (PubMed:14702039)Curated
Sequence conflicti5526 – 55261A → T in AAL33798. (PubMed:11792814)Curated
Sequence conflicti5564 – 55641E → K in AAL33798. (PubMed:11792814)Curated
Sequence conflicti5735 – 57351E → A in AAN03486. (PubMed:15093733)Curated
Sequence conflicti6549 – 65491K → E in AAL33798. (PubMed:11792814)Curated
Sequence conflicti6549 – 65491K → E in AAN60442. (PubMed:12408964)Curated
Sequence conflicti6549 – 65491K → E in AAO27774. 1 PublicationCurated
Sequence conflicti6626 – 66261L → P in AAL33798. (PubMed:11792814)Curated
Sequence conflicti6626 – 66261L → P in AAN60442. (PubMed:12408964)Curated
Sequence conflicti6626 – 66261L → P in AAO27774. 1 PublicationCurated
Sequence conflicti6645 – 66451E → V in AAL33798. (PubMed:11792814)Curated
Sequence conflicti6645 – 66451E → V in AAN60442. (PubMed:12408964)Curated
Sequence conflicti6645 – 66451E → V in AAO27774. 1 PublicationCurated
Sequence conflicti6923 – 69231I → T in AAL33798. (PubMed:11792814)Curated
Sequence conflicti6923 – 69231I → T in AAN60442. (PubMed:12408964)Curated
Sequence conflicti6923 – 69231I → T in AAO27774. 1 PublicationCurated
Sequence conflicti6929 – 69291V → A in AAL33798. (PubMed:11792814)Curated
Sequence conflicti6929 – 69291V → A in AAN60442. (PubMed:12408964)Curated
Sequence conflicti6929 – 69291V → A in AAO27774. 1 PublicationCurated
Sequence conflicti7075 – 70751E → D in AAL33798. (PubMed:11792814)Curated
Sequence conflicti7075 – 70751E → D in AAN60442. (PubMed:12408964)Curated
Sequence conflicti7075 – 70751E → D in AAO27774. 1 PublicationCurated
Sequence conflicti7091 – 70911N → T in AAL33798. (PubMed:11792814)Curated
Sequence conflicti7091 – 70911N → T in AAN60442. (PubMed:12408964)Curated
Sequence conflicti7091 – 70911N → T in AAO27774. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti655 – 6551Q → R Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 Publication
Corresponds to variant rs9397509 [ dbSNP | Ensembl ].
VAR_056211
Natural varianti885 – 8851L → V.
Corresponds to variant rs17082709 [ dbSNP | Ensembl ].
VAR_056212
Natural varianti1035 – 10351V → A.
Corresponds to variant rs214976 [ dbSNP | Ensembl ].
VAR_056213
Natural varianti2030 – 20301S → G.
Corresponds to variant rs35763277 [ dbSNP | Ensembl ].
VAR_056214
Natural varianti2795 – 27951A → V.
Corresponds to variant rs214950 [ dbSNP | Ensembl ].
VAR_056215
Natural varianti3088 – 30881A → T Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 Publication
VAR_070561
Natural varianti3671 – 36711V → M in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036250
Natural varianti3874 – 38741K → T.
Corresponds to variant rs13210127 [ dbSNP | Ensembl ].
VAR_056216
Natural varianti3892 – 38921L → S Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 Publication
VAR_070562
Natural varianti3954 – 39541S → T.
Corresponds to variant rs7775119 [ dbSNP | Ensembl ].
VAR_056217
Natural varianti4060 – 40601E → D.
Corresponds to variant rs4645434 [ dbSNP | Ensembl ].
VAR_056218
Natural varianti4121 – 41211K → N.
Corresponds to variant rs28385621 [ dbSNP | Ensembl ].
VAR_056219
Natural varianti4121 – 41211K → R.
Corresponds to variant rs9479297 [ dbSNP | Ensembl ].
VAR_056220
Natural varianti4203 – 42031E → K.
Corresponds to variant rs2130262 [ dbSNP | Ensembl ].
VAR_056221
Natural varianti4210 – 42101E → D in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036251
Natural varianti4223 – 42231R → H in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036252
Natural varianti4546 – 45461V → I.
Corresponds to variant rs4870093 [ dbSNP | Ensembl ].
VAR_056222
Natural varianti4596 – 45961S → T.2 Publications
Corresponds to variant rs6911096 [ dbSNP | Ensembl ].
VAR_056223
Natural varianti4944 – 49441L → M.
Corresponds to variant rs2306916 [ dbSNP | Ensembl ].
VAR_056224
Natural varianti5015 – 50151L → M.2 Publications
Corresponds to variant rs2306916 [ dbSNP | Ensembl ].
VAR_056225
Natural varianti5377 – 53771M → L.
Corresponds to variant rs35987150 [ dbSNP | Ensembl ].
VAR_056226
Natural varianti5426 – 54261T → M.
Corresponds to variant rs2306914 [ dbSNP | Ensembl ].
VAR_056227
Natural varianti5507 – 55071L → R in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036253
Natural varianti6566 – 65661M → I.
Corresponds to variant rs35654757 [ dbSNP | Ensembl ].
VAR_056228
Natural varianti6664 – 66641T → I.
Corresponds to variant rs35079654 [ dbSNP | Ensembl ].
VAR_056229
Natural varianti6951 – 69511Q → H.
Corresponds to variant rs3945783 [ dbSNP | Ensembl ].
VAR_056230
Natural varianti7302 – 73021F → V.4 Publications
Corresponds to variant rs2147377 [ dbSNP | Ensembl ].
VAR_056231
Natural varianti7506 – 75061S → G.
Corresponds to variant rs35763277 [ dbSNP | Ensembl ].
VAR_056232
Natural varianti8095 – 80951R → H in EDMD4. 1 Publication
VAR_062974
Natural varianti8161 – 81611N → H.
Corresponds to variant rs36215251 [ dbSNP | Ensembl ].
VAR_056233
Natural varianti8168 – 81681A → S.
Corresponds to variant rs17082236 [ dbSNP | Ensembl ].
VAR_056234
Natural varianti8323 – 83231G → A.5 Publications
Corresponds to variant rs2252755 [ dbSNP | Ensembl ].
VAR_015548
Natural varianti8387 – 83871V → L in EDMD4. 1 Publication
VAR_062975
Natural varianti8461 – 84611E → K in EDMD4. 1 Publication
Corresponds to variant rs119103248 [ dbSNP | Ensembl ].
VAR_062976
Natural varianti8468 – 84681R → H in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036254
Natural varianti8687 – 86871T → I.
Corresponds to variant rs35591210 [ dbSNP | Ensembl ].
VAR_056235
Natural varianti8741 – 87411L → M.
Corresponds to variant rs2295190 [ dbSNP | Ensembl ].
VAR_056236

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 78437843Missing in isoform 9. 1 PublicationVSP_007133Add
BLAST
Alternative sequencei1 – 78387838Missing in isoform 3. 1 PublicationVSP_007132Add
BLAST
Alternative sequencei1 – 55855585Missing in isoform 8. 1 PublicationVSP_007131Add
BLAST
Alternative sequencei1 – 54765476Missing in isoform 2. 1 PublicationVSP_007130Add
BLAST
Alternative sequencei103 – 1031K → KSMHRGSP in isoform 4. 1 PublicationVSP_007134
Alternative sequencei1437 – 14437DIKTMEM → EYVIDKS in isoform 5. 1 PublicationVSP_007135
Alternative sequencei1444 – 87977354Missing in isoform 5. 1 PublicationVSP_007136Add
BLAST
Alternative sequencei1702 – 172524LQNEV…ESLFS → SSRKCEEGKNKMLFVTVTLF KIIK in isoform 6. 1 PublicationVSP_007137Add
BLAST
Alternative sequencei1726 – 87977072Missing in isoform 6. 1 PublicationVSP_007138Add
BLAST
Alternative sequencei3620 – 364122Missing in isoform 4. 1 PublicationVSP_007139Add
BLAST
Alternative sequencei3912 – 396756Missing in isoform 4. 1 PublicationVSP_007140Add
BLAST
Alternative sequencei5571 – 558010TLLEESKEID → VTLGKIIFKK in isoform 7. 1 PublicationVSP_007141
Alternative sequencei5581 – 87973217Missing in isoform 7. 1 PublicationVSP_007142Add
BLAST
Alternative sequencei7844 – 787431AKASH…LDLIA → MVVAEDLSALRMAEDGCVDA DLPDCNCDVTR in isoform 9. 1 PublicationVSP_007143Add
BLAST
Alternative sequencei8325 – 83251S → SDVMIPESPEAYVKLTENAI KNTS in isoform 3, isoform 4 and isoform 9. 3 PublicationsVSP_007144

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY061755 mRNA. Translation: AAL33798.1.
AY061756 mRNA. Translation: AAL33799.1.
AF495910 mRNA. Translation: AAN60442.1.
AF535142 mRNA. Translation: AAN03486.1.
AY184203 mRNA. Translation: AAO27771.1.
AY184206 mRNA. Translation: AAO27774.1.
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.
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.
AF444779 mRNA. Translation: AAL38031.1. Different initiation.
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]
XP_006715482.1. XM_006715419.1. [Q8NF91-1]
UniGeneiHs.12967.

Genome annotation databases

EnsembliENST00000367253; ENSP00000356222; ENSG00000131018. [Q8NF91-6]
ENST00000367255; ENSP00000356224; ENSG00000131018. [Q8NF91-1]
ENST00000413186; ENSP00000414510; ENSG00000131018. [Q8NF91-5]
ENST00000423061; ENSP00000396024; ENSG00000131018.
GeneIDi23345.
KEGGihsa:23345.
UCSCiuc003qos.4. human. [Q8NF91-2]
uc003qot.4. human. [Q8NF91-4]
uc003qou.4. human. [Q8NF91-1]
uc003qow.3. human. [Q8NF91-6]

Polymorphism databases

DMDMi425906075.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Enaptin entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY061755 mRNA. Translation: AAL33798.1 .
AY061756 mRNA. Translation: AAL33799.1 .
AF495910 mRNA. Translation: AAN60442.1 .
AF535142 mRNA. Translation: AAN03486.1 .
AY184203 mRNA. Translation: AAO27771.1 .
AY184206 mRNA. Translation: AAO27774.1 .
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 .
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 .
AF444779 mRNA. Translation: AAL38031.1 . Different initiation.
AF043290 mRNA. Translation: AAC02992.2 . Different initiation.
CCDSi CCDS5235.1. [Q8NF91-4 ]
CCDS5236.2. [Q8NF91-1 ]
RefSeqi NP_149062.1. NM_033071.3.
NP_892006.3. NM_182961.3. [Q8NF91-1 ]
XP_006715482.1. XM_006715419.1. [Q8NF91-1 ]
UniGenei Hs.12967.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4DXR X-ray 2.32 B 8769-8797 [» ]
ProteinModelPortali Q8NF91.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116928. 25 interactions.
IntActi Q8NF91. 17 interactions.
MINTi MINT-6489007.

PTM databases

PhosphoSitei Q8NF91.

Polymorphism databases

DMDMi 425906075.

Proteomic databases

MaxQBi Q8NF91.
PaxDbi Q8NF91.
PRIDEi Q8NF91.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367253 ; ENSP00000356222 ; ENSG00000131018 . [Q8NF91-6 ]
ENST00000367255 ; ENSP00000356224 ; ENSG00000131018 . [Q8NF91-1 ]
ENST00000413186 ; ENSP00000414510 ; ENSG00000131018 . [Q8NF91-5 ]
ENST00000423061 ; ENSP00000396024 ; ENSG00000131018 .
GeneIDi 23345.
KEGGi hsa:23345.
UCSCi uc003qos.4. human. [Q8NF91-2 ]
uc003qot.4. human. [Q8NF91-4 ]
uc003qou.4. human. [Q8NF91-1 ]
uc003qow.3. human. [Q8NF91-6 ]

Organism-specific databases

CTDi 23345.
GeneCardsi GC06M152442.
GeneReviewsi SYNE1.
HGNCi HGNC:17089. SYNE1.
HPAi HPA019113.
MIMi 608441. gene.
610743. phenotype.
612998. phenotype.
neXtProti NX_Q8NF91.
Orphaneti 98853. Autosomal dominant Emery-Dreifuss muscular dystrophy.
88644. Autosomal recessive ataxia, Beauce type.
319332. Autosomal recessive myogenic arthrogryposis multiplex congenita.
PharmGKBi PA134975331.
HUGEi Search...
Search...
Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5069.
GeneTreei ENSGT00760000118813.
HOVERGENi HBG066187.
InParanoidi Q8NF91.
OMAi MKWESLH.
OrthoDBi EOG72JWF7.
TreeFami TF329280.

Enzyme and pathway databases

Reactomei REACT_75792. Meiotic synapsis.

Miscellaneous databases

ChiTaRSi SYNE1. human.
GeneWikii Enaptin.
GenomeRNAii 23345.
NextBioi 45305.
PROi Q8NF91.
SOURCEi Search...

Gene expression databases

Bgeei Q8NF91.
ExpressionAtlasi Q8NF91. baseline and differential.
Genevestigatori Q8NF91.

Family and domain databases

Gene3Di 1.10.418.10. 2 hits.
InterProi IPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR012315. KASH.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
[Graphical view ]
Pfami PF00307. CH. 2 hits.
PF10541. KASH. 1 hit.
PF00435. Spectrin. 10 hits.
[Graphical view ]
SMARTi SM00033. CH. 2 hits.
SM00150. SPEC. 45 hits.
[Graphical view ]
SUPFAMi SSF47576. SSF47576. 2 hits.
PROSITEi PS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
PS51049. KASH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues."
    Zhang Q., Skepper J.N., Yang F., Davies J.D., Hegyi L., Roberts R.G., Weissberg P.L., Ellis J.A., Shanahan C.M.
    J. Cell Sci. 114:4485-4498(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF 8758-LEU--CYS-8763, VARIANTS VAL-7302 AND ALA-8323.
    Tissue: Heart, Placenta, Skeletal muscle, Spleen and Testis.
  2. "The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300."
    Zhang Q., Ragnauth C., Greener M.J., Shanahan C.M., Roberts R.G.
    Genomics 80:473-481(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, VARIANTS THR-4596; MET-5015; VAL-7302 AND ALA-8323.
    Tissue: Heart, Spleen and Testis.
  3. "Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton."
    Padmakumar V.C., Abraham S., Braune S., Noegel A.A., Tunggal B., Karakesisoglou I., Korenbaum E.
    Exp. Cell Res. 295:330-339(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), TISSUE SPECIFICITY.
    Tissue: Cerebellum.
  4. Zhang Q., Shanahan C.M.
    Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 8 AND 9), VARIANTS VAL-7302 AND ALA-8323.
  5. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-856 (ISOFORM 1).
    Tissue: Kidney.
  7. "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] OF 28-778 AND 2901-3476 (ISOFORM 1).
    Tissue: Adrenal gland and Teratocarcinoma.
  8. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
    DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 443-8797 (ISOFORM 5).
    Tissue: Brain.
  9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 743-8797 (ISOFORM 6).
    Tissue: Brain.
  10. "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.
    DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4219-8797 (ISOFORM 7), VARIANTS THR-4596 AND MET-5015.
    Tissue: Brain.
  11. "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 6922-8797 (ISOFORM 1), VARIANTS VAL-7302 AND ALA-8323.
    Tissue: Brain.
  12. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  13. "Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C."
    Mislow J.M.K., Kim M.S., Davis D.B., McNally E.M.
    J. Cell Sci. 115:61-70(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 7631-8797 (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ALA-8323.
  14. Ma F.-R., Zhu L.-P.
    Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 8406-8797 (ISOFORM 1).
  15. "Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro."
    Mislow J.M., Holaska J.M., Kim M.S., Lee K.K., Segura-Totten M., Wilson K.L., McNally E.M.
    FEBS Lett. 525:135-140(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT, INTERACTION WITH EMD AND LMNA.
  16. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-8223; THR-8274; SER-8277 AND SER-8280, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  17. "Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia."
    Gros-Louis F., Dupre N., Dion P., Fox M.A., Laurent S., Verreault S., Sanes J.R., Bouchard J.-P., Rouleau G.A.
    Nat. Genet. 39:80-85(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SCAR8.
  18. "Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness."
    Stewart-Hutchinson P.J., Hale C.M., Wirtz D., Hodzic D.
    Exp. Cell Res. 314:1892-1905(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, DOMAIN, INTERACTION WITH SUN1 AND SUN2.
  19. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  20. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  21. Cited for: TISSUE SPECIFICITY, INTERACTION WITH SYNE3.
  22. Cited for: VARIANTS COLORECTAL CANCER [LARGE SCALE ANALYSIS] MET-3671; ASP-4210; HIS-4223; ARG-5507 AND HIS-8468.
  23. "Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity."
    Zhang Q., Bethmann C., Worth N.F., Davies J.D., Wasner C., Feuer A., Ragnauth C.D., Yi Q., Mellad J.A., Warren D.T., Wheeler M.A., Ellis J.A., Skepper J.N., Vorgerd M., Schlotter-Weigel B., Weissberg P.L., Roberts R.G., Wehnert M., Shanahan C.M.
    Hum. Mol. Genet. 16:2816-2833(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EDMD4 HIS-8095; LEU-8387 AND LYS-8461.
  24. Cited for: VARIANTS ARG-655; THR-3088 AND SER-3892.

Entry informationi

Entry nameiSYNE1_HUMAN
AccessioniPrimary (citable) accession number: Q8NF91
Secondary accession number(s): E7EQI5
, O94890, 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: October 29, 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

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

External Data

Dasty 3