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Q8NF91

- SYNE1_HUMAN

UniProt

Q8NF91 - SYNE1_HUMAN

Protein

Nesprin-1

Gene

SYNE1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 4 (28 Nov 2012)
      Previous versions | rss
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    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. cell death Source: UniProtKB-KW
    2. cytoskeletal anchoring at nuclear membrane Source: UniProtKB
    3. Golgi organization Source: UniProtKB
    4. muscle cell differentiation Source: UniProtKB
    5. nuclear matrix anchoring at nuclear membrane Source: UniProtKB
    6. nucleus organization Source: UniProtKB

    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-SubCell
    3. Golgi apparatus Source: UniProtKB
    4. integral component of membrane Source: UniProtKB
    5. nuclear envelope Source: UniProtKB
    6. nuclear membrane Source: HPA
    7. nuclear outer membrane Source: UniProtKB-SubCell
    8. nucleus Source: UniProt
    9. postsynaptic membrane Source: UniProtKB
    10. sarcomere Source: MGI
    11. SUN-KASH complex Source: UniProtKB

    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

    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.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. 24 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.
    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.

    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. 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

    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 1, 2014
    This is version 139 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