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Q8NF91

- SYNE1_HUMAN

UniProt

Q8NF91 - SYNE1_HUMAN

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Protein
Nesprin-1
Gene
SYNE1, C6orf98, KIAA0796, KIAA1262, KIAA1756, MYNE1
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 binding Source: IntAct
  6. protein homodimerization activity Source: UniProtKB

GO - Biological processi

  1. Golgi organization Source: UniProtKB
  2. cell death Source: UniProtKB-KW
  3. cytoskeletal anchoring at nuclear membrane Source: UniProtKB
  4. muscle cell differentiation Source: UniProtKB
  5. nuclear matrix anchoring at nuclear membrane Source: UniProtKB
  6. 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; Single-pass type IV membrane protein; Cytoplasmic side Reviewed prediction. 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.3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 87468746Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei8747 – 876721Helical; Anchor for type IV membrane protein; Reviewed prediction
Add
BLAST
Topological domaini8768 – 879730Perinuclear space Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB
  2. SUN-KASH complex Source: UniProtKB
  3. cytoplasm Source: UniProtKB
  4. cytoskeleton Source: UniProtKB-SubCell
  5. integral component of membrane Source: UniProtKB
  6. nuclear envelope Source: UniProtKB
  7. nuclear membrane Source: HPA
  8. nuclear outer membrane Source: UniProtKB-SubCell
  9. nucleus Source: UniProt
  10. postsynaptic membrane Source: UniProtKB
  11. sarcomere Source: MGI
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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-1
PRO_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 – 83051Phosphoserine By 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

ArrayExpressiQ8NF91.
BgeeiQ8NF91.
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.3 Publications

Binary interactionsi

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

Protein-protein interaction databases

BioGridi116928. 24 interactions.
IntActiQ8NF91. 17 interactions.
MINTiMINT-6489007.

Structurei

Secondary structure

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.

Family & Domainsi

Domains and Repeats

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

Coiled coil

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

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi8663 – 872967Ser-rich
Add
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.
Contains 12 HAT repeats.
Contains 1 KASH domain.
Contains 31 spectrin repeats.

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5069.
HOVERGENiHBG066187.
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.

« Hide

MATSRGASRC PRDIANVMQR LQDEQEIVQK RTFTKWINSH LAKRKPPMVV     50
DDLFEDMKDG VKLLALLEVL SGQKLPCEQG RRMKRIHAVA NIGTALKFLE 100
GRKIKLVNIN STDIADGRPS IVLGLMWTII LYFQIEELTS NLPQLQSLSS 150
SASSVDSIVS SETPSPPSKR KVTTKIQGNA KKALLKWVQY TAGKQTGIEV 200
KDFGKSWRSG VAFHSVIHAI RPELVDLETV KGRSNRENLE DAFTIAETEL 250
GIPRLLDPED VDVDKPDEKS IMTYVAQFLK HYPDIHNAST DGQEDDEILP 300
GFPSFANSVQ NFKREDRVIF KEMKVWIEQF ERDLTRAQMV ESNLQDKYQS 350
FKHFRVQYEM KRKQIEHLIQ PLHRDGKLSL DQALVKQSWD RVTSRLFDWH 400
IQLDKSLPAP LGTIGAWLYR AEVALREEIT VQQVHEETAN TIQRKLEQHK 450
DLLQNTDAHK RAFHEIYRTR SVNGIPVPPD QLEDMAERFH FVSSTSELHL 500
MKMEFLELKY RLLSLLVLAE SKLKSWIIKY GRRESVEQLL QNYVSFIENS 550
KFFEQYEVTY QILKQTAEMY VKADGSVEEA ENVMKFMNET TAQWRNLSVE 600
VRSVRSMLEE VISNWDRYGN TVASLQAWLE DAEKMLNQSE NAKKDFFRNL 650
PHWIQQHTAM NDAGNFLIET CDEMVSRDLK QQLLLLNGRW RELFMEVKQY 700
AQADEMDRMK KEYTDCVVTL SAFATEAHKK LSEPLEVSFM NVKLLIQDLE 750
DIEQRVPVMD AQYKIITKTA HLITKESPQE EGKEMFATMS KLKEQLTKVK 800
ECYSPLLYES QQLLIPLEEL EKQMTSFYDS LGKINEIITV LEREAQSSAL 850
FKQKHQELLA CQENCKKTLT LIEKGSQSVQ KFVTLSNVLK HFDQTRLQRQ 900
IADIHVAFQS MVKKTGDWKK HVETNSRLMK KFEESRAELE KVLRIAQEGL 950
EEKGDPEELL RRHTEFFSQL DQRVLNAFLK ACDELTDILP EQEQQGLQEA 1000
VRKLHKQWKD LQGEAPYHLL HLKIDVEKNR FLASVEECRT ELDRETKLMP 1050
QEGSEKIIKE HRVFFSDKGP HHLCEKRLQL IEELCVKLPV RDPVRDTPGT 1100
CHVTLKELRA AIDSTYRKLM EDPDKWKDYT SRFSEFSSWI STNETQLKGI 1150
KGEAIDTANH GEVKRAVEEI RNGVTKRGET LSWLKSRLKV LTEVSSENEA 1200
QKQGDELAKL SSSFKALVTL LSEVEKMLSN FGDCVQYKEI VKNSLEELIS 1250
GSKEVQEQAE KILDTENLFE AQQLLLHHQQ KTKRISAKKR DVQQQIAQAQ 1300
QGEGGLPDRG HEELRKLEST LDGLERSRER QERRIQVTLR KWERFETNKE 1350
TVVRYLFQTG SSHERFLSFS SLESLSSELE QTKEFSKRTE SIAVQAENLV 1400
KEASEIPLGP QNKQLLQQQA KSIKEQVKKL EDTLEEDIKT MEMVKTKWDH 1450
FGSNFETLSV WITEKEKELN ALETSSSAMD MQISQIKVTI QEIESKLSSI 1500
VGLEEEAQSF AQFVTTGESA RIKAKLTQIR RYGEELREHA QCLEGTILGH 1550
LSQQQKFEEN LRKIQQSVSE FEDKLAVPIK ICSSATETYK VLQEHMDLCQ 1600
ALESLSSAIT AFSASARKVV NRDSCVQEAA ALQQQYEDIL RRAKERQTAL 1650
ENLLAHWQRL EKELSSFLTW LERGEAKASS PEMDISADRV KVEGELQLIQ 1700
ALQNEVVSQA SFYSKLLQLK ESLFSVASKD DVKMMKLHLE QLDERWRDLP 1750
QIINKRINFL QSVVAEHQQF DELLLSFSVW IKLFLSELQT TSEISIMDHQ 1800
VALTRHKDHA AEVESKKGEL QSLQGHLAKL GSLGRAEDLH LLQGKAEDCF 1850
QLFEEASQVV ERRQLALSHL AEFLQSHASL SGILRQLRQT VEATNSMNKN 1900
ESDLIEKDLN DALQNAKALE SAAVSLDGIL SKAQYHLKIG SSEQRTSCRA 1950
TADQLCGEVE RIQNLLGTKQ SEADALAVLK KAFQDQKEEL LKSIEDIEER 2000
TDKERLKEPT RQALQQRLRV FNQLEDELNS HEHELCWLKD KAKQIAQKDV 2050
AFAPEVDREI NRLEVTWDDT KRLIHENQGQ CCGLIDLMRE YQNLKSAVSK 2100
VLENASSVIV TRTTIKDQED LKWAFSKHET AKNKMNYKQK DLDNFTSKGK 2150
HLLSELKKIH SSDFSLVKTD MESTVDKWLD VSEKLEENMD RLRVSLSIWD 2200
DVLSTRDEIE GWSNNCVPQM AENISNLDNH LRAEELLKEF ESEVKNKALR 2250
LEELHSKVND LKELTKNLET PPDLQFIEAD LMQKLEHAKE ITEVAKGTLK 2300
DFTAQSTQVE KFINDITTWF TKVEESLMNC AQNETCEALK KVKDIQKELQ 2350
SQQSNISSTQ ENLNSLCRKY HSAELESLGR AMTGLIKKHE AVSQLCSKTQ 2400
ASLQESLEKH FSESMQEFQE WFLGAKAAAK ESSDRTGDSK VLEAKLHDLQ 2450
NILDSVSDGQ SKLDAVTQEG QTLYAHLSKQ IVSSIQEQIT KANEEFQAFL 2500
KQCLKDKQAL QDCASELGSF EDQHRKLNLW IHEMEERFNT ENLGESKQHI 2550
PEKKNEVHKV EMFLGELLAA RESLDKLSQR GQLLSEEGHG AGQEGRLCSQ 2600
LLTSHQNLLR MTKEKLRSCQ VALQEHEALE EALQSMWFWV KAIQDRLACA 2650
ESTLGSKDTL EKRLSQIQDI LLMKGEGEVK LNMAIGKGEQ ALRSSNKEGQ 2700
RVIQTQLETL KEVWADIMSS SVHAQSTLES VISQWNDYVE RKNQLEQWME 2750
SVDQKIEHPL QPQPGLKEKF VLLDHLQSIL SEAEDHTRAL HRLIAKSREL 2800
YEKTEDESFK DTAQEELKTQ FNDIMTVAKE KMRKVEEIVK DHLMYLDAVH 2850
EFTDWLHSAK EELHRWSDMS GDSSATQKKL SKIKELIDSR EIGASRLSRV 2900
ESLAPEVKQN TTASGCELMH TEMQALRADW KQWEDSVFQT QSCLENLVSQ 2950
MALSEQEFSG QVAQLEQALE QFSALLKTWA QQLTLLEGKN TDEEIVECWH 3000
KGQEILDALQ KAEPRTEDLK SQLNELCRFS RDLSTYSGKV SGLIKEYNCL 3050
CLQASKGCQN KEQILQQRFR KAFRDFQQWL VNAKITTAKC FDIPQNISEV 3100
STSLQKIQEF LSESENGQHK LNMMLSKGEL LSTLLTKEKA KGIQAKVTAA 3150
KEDWKNFHSN LHQKESALEN LKIQMKDFEV SAEPIQDWLS KTEKMVHESS 3200
NRLYDLPAKR REQQKLQSVL EEIHCYEPQL NRLKEKAQQL WEGQAASKSF 3250
RHRVSQLSSQ YLALSNLTKE KVSRLDRIVA EHNQFSLGIK ELQDWMTDAI 3300
HMLDSYCHPT SDKSVLDSRT LKLEALLSVK QEKEIQMKMI VTRGESVLQN 3350
TSPEGIPTIQ QQLQSVKDMW ASLLSAGIRC KSQLEGALSK WTSYQDGVRQ 3400
FSGWMDSMEA NLNESERQHA ELRDKTTMLG KAKLLNEEVL SYSSLLETIE 3450
VKGAGMTEHY VTQLELQDLQ ERYRAIQERA KEAVTKSEKL VRLHQEYQRD 3500
LKAFEVWLGQ EQEKLDQYSV LEGDAHTHET TLRDLQELQV HCAEGQALLN 3550
SVLHTREDVI PSGIPQAEDR ALESLRQDWQ AYQHRLSETR TQFNNVVNKL 3600
RLMEQKFQQV DEWLKTAEEK VSPRTRRQSN RATKEIQLHQ MKKWHEEVTA 3650
YRDEVEEVGA RAQEILDESH VNSRMGCQAT QLTSRYQALL LQVLEQIKFL 3700
EEEIQSLEES ESSLSSYSDW YGSTHKNFKN VATKIDKVDT VMMGKKLKTL 3750
EVLLKDMEKG HSLLKSAREK GERAVKYLEE GEAERLRKEI HDHMEQLKEL 3800
TSTVRKEHMT LEKGLHLAKE FSDKCKALTQ WIAEYQEILH VPEEPKMELY 3850
EKKAQLSKYK SLQQTVLSHE PSVKSVREKG EALLELVQDV TLKDKIDQLQ 3900
SDYQDLCSIG KEHVFSLEAK VKDHEDYNSE LQEVEKWLLQ MSGRLVAPDL 3950
LETSSLETIT QQLAHHKAMM EEIAGFEDRL NNLQMKGDTL IGQCADHLQA 4000
KLKQNVHAHL QGTKDSYSAI CSTAQRMYQS LEHELQKHVS RQDTLQQCQA 4050
WLSAVQPDLE PSPQPPLSRA EAIKQVKHFR ALQEQARTYL DLLCSMCDLS 4100
NASVKTTAKD IQQTEQTIEQ KLVQAQNLTQ GWEEIKHLKS ELWIYLQDAD 4150
QQLQNMKRRH SELELNIAQN MVSQVKDFVK KLQSKQASVN TIIEKVNKLT 4200
KKEESPEHKE INHLNDQWLD LCRQSNNLCL QREEDLQRTR DYHDCMNVVE 4250
VFLEKFTTEW DNLARSDAES TAVHLEALKK LALALQERKY AIEDLKDQKQ 4300
KMIEHLNLDD KELVKEQTSH LEQRWFQLED LIKRKIQVSV TNLEELNVVQ 4350
SRFQELMEWA EEQQPNIAEA LKQSPPPDMA QNLLMDHLAI CSELEAKQML 4400
LKSLIKDADR VMADLGLNER QVIQKALSDA QSHVNCLSDL VGQRRKYLNK 4450
ALSEKTQFLM AVFQATSQIQ QHERKIMFRE HICLLPDDVS KQVKTCKSAQ 4500
ASLKTYQNEV TGLWAQGREL MKEVTEQEKS EVLGKLQELQ SVYDSVLQKC 4550
SHRLQELEKN LVSRKHFKED FDKACHWLKQ ADIVTFPEIN LMNESSELHT 4600
QLAKYQNILE QSPEYENLLL TLQRTGQTIL PSLNEVDHSY LSEKLNALPR 4650
QFNVIVALAK DKFYKVQEAI LARKEYASLI ELTTQSLSEL EAQFLRMSKV 4700
PTDLAVEEAL SLQDGCRAIL DEVAGLGEAV DELNQKKEGF RSTGQPWQPD 4750
KMLHLVTLYH RLKRQTEQRV SLLEDTTSAY QEHEKMCQQL ERQLKSVKEE 4800
QSKVNEETLP AEEKLKMYHS LAGSLQDSGI VLKRVTIHLE DLAPHLDPLA 4850
YEKARHQIQS WQGELKLLTS AIGETVTECE SRMVQSIDFQ TEMSRSLDWL 4900
RRVKAELSGP VYLDLNLQDI QEEIRKIQIH QEEVQSSLRI MNALSHKEKE 4950
KFTKAKELIS ADLEHSLAEL SELDGDIQEA LRTRQATLTE IYSQCQRYYQ 5000
VFQAANDWLE DAQELLQLAG NGLDVESAEE NLKSHMEFFS TEDQFHSNLE 5050
ELHSLVATLD PLIKPTGKED LEQKVASLEL RSQRMSRDSG AQVDLLQRCT 5100
AQWHDYQKAR EEVIELMNDT EKKLSEFSLL KTSSSHEAEE KLSEHKALVS 5150
VVNSFHEKIV ALEEKASQLE KTGNDASKAT LSRSMTTVWQ RWTRLRAVAQ 5200
DQEKILEDAV DEWTGFNNKV KKATEMIDQL QDKLPGSSAE KASKAELLTL 5250
LEYHDTFVLE LEQQQSALGM LRQQTLSMLQ DGAAPTPGEE PPLMQEITAM 5300
QDRCLNMQEK VKTNGKLVKQ ELKDREMVET QINSVKCWVQ ETKEYLGNPT 5350
IEIDAQLEEL QILLTEATNH RQNIEKMAEE QKEKYLGLYT ILPSELSLQL 5400
AEVALDLKIR DQIQDKIKEV EQSKATSQEL SRQIQKLAKD LTTILTKLKA 5450
KTDNVVQAKT DQKVLGEELD GCNSKLMELD AAVQKFLEQN GQLGKPLAKK 5500
IGKLTELHQQ TIRQAENRLS KLNQAASHLE EYNEMLELIL KWIEKAKVLA 5550
HGTIAWNSAS QLREQYILHQ TLLEESKEID SELEAMTEKL QYLTSVYCTE 5600
KMSQQVAELG RETEELRQMI KIRLQNLQDA AKDMKKFEAE LKKLQAALEQ 5650
AQATLTSPEV GRLSLKEQLS HRQHLLSEME SLKPKVQAVQ LCQSALRIPE 5700
DVVASLPLCH AALRLQEEAS RLQHTAIQQC NIMQEAVVQY EQYEQEMKHL 5750
QQLIEGAHRE IEDKPVATSN IQELQAQISR HEELAQKIKG YQEQIASLNS 5800
KCKMLTMKAK HATMLLTVTE VEGLAEGTED LDGELLPTPS AHPSVVMMTA 5850
GRCHTLLSPV TEESGEEGTN SEISSPPACR SPSPVANTDA SVNQDIAYYQ 5900
ALSAERLQTD AAKIHPSTSA SQEFYEPGLE PSATAKLGDL QRSWETLKNV 5950
ISEKQRTLYE ALERQQKYQD SLQSISTKME AIELKLSESP EPGRSPESQM 6000
AEHQALMDEI LMLQDEINEL QSSLAEELVS ESCEADPAEQ LALQSTLTVL 6050
AERMSTIRMK ASGKRQLLEE KLNDQLEEQR QEQALQRYRC EADELDSWLL 6100
STKATLDTAL SPPKEPMDME AQLMDCQNML VEIEQKVVAL SELSVHNENL 6150
LLEGKAHTKD EAEQLAGKLR RLKGSLLELQ RALHDKQLNM QGTAQEKEES 6200
DVDLTATQSP GVQEWLAQAR TTWTQQRQSS LQQQKELEQE LAEQKSLLRS 6250
VASRGEEILI QHSAAETSGD AGEKPDVLSQ ELGMEGEKSS AEDQMRMKWE 6300
SLHQEFSTKQ KLLQNVLEQE QEQVLYSRPN RLLSGVPLYK GDVPTQDKSA 6350
VTSLLDGLNQ AFEEVSSQSG GAKRQSIHLE QKLYDGVSAT STWLDDVEER 6400
LFVATALLPE ETETCLFNQE ILAKDIKEMS EEMDKNKNLF SQAFPENGDN 6450
RDVIEDTLGC LLGRLSLLDS VVNQRCHQMK ERLQQILNFQ NDLKVLFTSL 6500
ADNKYIILQK LANVFEQPVA EQIEAIQQAE DGLKEFDAGI IELKRRGDKL 6550
QVEQPSMQEL SKLQDMYDEL MMIIGSRRSG LNQNLTLKSQ YERALQDLAD 6600
LLETGQEKMA GDQKIIVSSK EEIQQLLDKH KEYFQGLESH MILTETLFRK 6650
IISFAVQKET QFHTELMAQA SAVLKRAHKR GVELEYILET WSHLDEDQQE 6700
LSRQLEVVES SIPSVGLVEE NEDRLIDRIT LYQHLKSSLN EYQPKLYQVL 6750
DDGKRLLISI SCSDLESQLN QLGECWLSNT NKMSKELHRL ETILKHWTRY 6800
QSESADLIHW LQSAKDRLEF WTQQSVTVPQ ELEMVRDHLN AFLEFSKEVD 6850
AQSSLKSSVL STGNQLLRLK KVDTATLRSE LSRIDSQWTD LLTNIPAVQE 6900
KLHQLQMDKL PSRHAISEVM SWISLMENVI QKDEDNIKNS IGYKAIHEYL 6950
QKYKGFKIDI NCKQLTVDFV NQSVLQISSQ DVESKRSDKT DFAEQLGAMN 7000
KSWQILQGLV TEKIQLLEGL LESWSEYENN VQCLKTWFET QEKRLKQQHR 7050
IGDQASVQNA LKDCQDLEDL IKAKEKEVEK IEQNGLALIQ NKKEDVSSIV 7100
MSTLRELGQT WANLDHMVGQ LKILLKSVLD QWSSHKVAFD KINSYLMEAR 7150
YSLSRFRLLT GSLEAVQVQV DNLQNLQDDL EKQERSLQKF GSITNQLLKE 7200
CHPPVTETLT NTLKEVNMRW NNLLEEIAEQ LQSSKALLQL WQRYKDYSKQ 7250
CASTVQQQED RTNELLKAAT NKDIADDEVA TWIQDCNDLL KGLGTVKDSL 7300
FFLHELGEQL KQQVDASAAS AIQSDQLSLS QHLCALEQAL CKQQTSLQAG 7350
VLDYETFAKS LEALEAWIVE AEEILQGQDP SHSSDLSTIQ ERMEELKGQM 7400
LKFSSMAPDL DRLNELGYRL PLNDKEIKRM QNLNRHWSLI SSQTTERFSK 7450
LQSFLLQHQT FLEKCETWME FLVQTEQKLA VEISGNYQHL LEQQRAHELF 7500
QAEMFSRQQI LHSIIIDGQR LLEQGQVDDR DEFNLKLTLL SNQWQGVIRR 7550
AQQRRGIIDS QIRQWQRYRE MAEKLRKWLV EVSYLPMSGL GSVPIPLQQA 7600
RTLFDEVQFK EKVFLRQQGS YILTVEAGKQ LLLSADSGAE AALQAELAEI 7650
QEKWKSASMR LEEQKKKLAF LLKDWEKCEK GIADSLEKLR TFKKKLSQSL 7700
PDHHEELHAE QMRCKELENA VGSWTDDLTQ LSLLKDTLSA YISADDISIL 7750
NERVELLQRQ WEELCHQLSL RRQQIGERLN EWAVFSEKNK ELCEWLTQME 7800
SKVSQNGDIL IEEMIEKLKK DYQEEIAIAQ ENKIQLQQMG ERLAKASHES 7850
KASEIEYKLG KVNDRWQHLL DLIAARVKKL KETLVAVQQL DKNMSSLRTW 7900
LAHIESELAK PIVYDSCNSE EIQRKLNEQQ ELQRDIEKHS TGVASVLNLC 7950
EVLLHDCDAC ATDAECDSIQ QATRNLDRRW RNICAMSMER RLKIEETWRL 8000
WQKFLDDYSR FEDWLKSSER TAAFPSSSGV IYTVAKEELK KFEAFQRQVH 8050
ECLTQLELIN KQYRRLAREN RTDSACSLKQ MVHEGNQRWD NLQKRVTSIL 8100
RRLKHFIGQR EEFETARDSI LVWLTEMDLQ LTNIEHFSEC DVQAKIKQLK 8150
AFQQEISLNH NKIEQIIAQG EQLIEKSEPL DAAIIEEELD ELRRYCQEVF 8200
GRVERYHKKL IRLPLPDDEH DLSDRELELE DSAALSDLHW HDRSADSLLS 8250
PQPSSNLSLS LAQPLRSERS GRDTPASVDS IPLEWDHDYD LSRDLESAMS 8300
RALPSEDEEG QDDKDFYLRG AVGLSGDHSA LESQIRQLGK ALDDSRFQIQ 8350
QTENIIRSKT PTGPELDTSY KGYMKLLGEC SSSIDSVKRL EHKLKEEEES 8400
LPGFVNLHST ETQTAGVIDR WELLQAQALS KELRMKQNLQ KWQQFNSDLN 8450
SIWAWLGDTE EELEQLQRLE LSTDIQTIEL QIKKLKELQK AVDHRKAIIL 8500
SINLCSPEFT QADSKESRDL QDRLSQMNGR WDRVCSLLEE WRGLLQDALM 8550
QCQGFHEMSH GLLLMLENID RRKNEIVPID SNLDAEILQD HHKQLMQIKH 8600
ELLESQLRVA SLQDMSCQLL VNAEGTDCLE AKEKVHVIGN RLKLLLKEVS 8650
RHIKELEKLL DVSSSQQDLS SWSSADELDT SGSVSPTSGR STPNRQKTPR 8700
GKCSLSQPGP SVSSPHSRST KGGSDSSLSE PGPGRSGRGF LFRVLRAALP 8750
LQLLLLLLIG LACLVPMSEE DYSCALSNNF ARSFHPMLRY TNGPPPL 8797
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.

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.
VSP_007133Add
BLAST
Alternative sequencei1 – 78387838Missing in isoform 3.
VSP_007132Add
BLAST
Alternative sequencei1 – 55855585Missing in isoform 8.
VSP_007131Add
BLAST
Alternative sequencei1 – 54765476Missing in isoform 2.
VSP_007130Add
BLAST
Alternative sequencei103 – 1031K → KSMHRGSP in isoform 4.
VSP_007134
Alternative sequencei1437 – 14437DIKTMEM → EYVIDKS in isoform 5.
VSP_007135
Alternative sequencei1444 – 87977354Missing in isoform 5.
VSP_007136Add
BLAST
Alternative sequencei1702 – 172524LQNEV…ESLFS → SSRKCEEGKNKMLFVTVTLF KIIK in isoform 6.
VSP_007137Add
BLAST
Alternative sequencei1726 – 87977072Missing in isoform 6.
VSP_007138Add
BLAST
Alternative sequencei3620 – 364122Missing in isoform 4.
VSP_007139Add
BLAST
Alternative sequencei3912 – 396756Missing in isoform 4.
VSP_007140Add
BLAST
Alternative sequencei5571 – 558010TLLEESKEID → VTLGKIIFKK in isoform 7.
VSP_007141
Alternative sequencei5581 – 87973217Missing in isoform 7.
VSP_007142Add
BLAST
Alternative sequencei7844 – 787431AKASH…LDLIA → MVVAEDLSALRMAEDGCVDA DLPDCNCDVTR in isoform 9.
VSP_007143Add
BLAST
Alternative sequencei8325 – 83251S → SDVMIPESPEAYVKLTENAI KNTS in isoform 3, isoform 4 and isoform 9.
VSP_007144

Sequence conflict

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

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. 24 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 GC06M152485.
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.
HOVERGENi HBG066187.
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

ArrayExpressi Q8NF91.
Bgeei Q8NF91.
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: September 3, 2014
This is version 138 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

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