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Q8NF91 - SYNE1_HUMAN

UniProt

Q8NF91 - SYNE1_HUMAN

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Protein

Nesprin-1

Gene

SYNE1

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

Functioni

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

GO - Molecular functioni

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

GO - Biological processi

  1. cytoskeletal anchoring at nuclear membrane Source: UniProtKB
  2. establishment of nucleus localization Source: Ensembl
  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
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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
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. Cytoplasm › cytoskeleton. Cytoplasm › myofibril › sarcomere
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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 87468746CytoplasmicPROSITE-ProRule annotationAdd
BLAST
Transmembranei8747 – 876721Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd
BLAST
Topological domaini8768 – 879730Perinuclear spacePROSITE-ProRule annotationAdd
BLAST

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. nucleoplasm Source: HPA
  9. nucleus Source: UniProtKB
  10. postsynaptic membrane Source: UniProtKB
  11. sarcomere Source: MGI
  12. SUN-KASH complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia, autosomal recessive, 81 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionSpinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form.

See also OMIM:610743
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.

See also OMIM:612998
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8095 – 80951R → H in EDMD4. 1 Publication
VAR_062974
Natural varianti8387 – 83871V → L in EDMD4. 1 Publication
VAR_062975
Natural varianti8461 – 84611E → K in EDMD4. 1 Publication
Corresponds to variant rs119103248 [ dbSNP | Ensembl ].		VAR_062976

Mutagenesis

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

Keywords - Diseasei

Disease mutation, Emery-Dreifuss muscular dystrophy, Neurodegeneration

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

Amino acid modifications

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8NF91.
PaxDbiQ8NF91.
PRIDEiQ8NF91.

PTM databases

PhosphoSiteiQ8NF91.

Expressioni

Tissue specificityi

Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta.4 Publications

Gene expression databases

BgeeiQ8NF91.
ExpressionAtlasiQ8NF91. baseline and differential.
GenevestigatoriQ8NF91.

Organism-specific databases

HPAiHPA019113.

Interactioni

Subunit structurei

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

Binary interactionsi

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

Protein-protein interaction databases

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

Structurei

Secondary structure

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

3D structure databases

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

Family & Domainsi

Domains and Repeats

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

Coiled coil

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

Compositional bias

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

Domaini

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

Sequence similaritiesi

Belongs to the nesprin family.Curated
Contains 1 actin-binding domain.Curated
Contains 2 CH (calponin-homology) domains.PROSITE-ProRule annotation
Contains 12 HAT repeats.Curated
Contains 1 KASH domain.PROSITE-ProRule annotation
Contains 31 spectrin repeats.Curated

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di1.10.418.10. 2 hits.
InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR012315. KASH.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
IPR030265. SYNE1.
[Graphical view]
PANTHERiPTHR11915:SF267. PTHR11915:SF267. 1 hit.
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

        10         20         30         40         50
MATSRGASRC PRDIANVMQR LQDEQEIVQK RTFTKWINSH LAKRKPPMVV 
        60         70         80         90        100
DDLFEDMKDG VKLLALLEVL SGQKLPCEQG RRMKRIHAVA NIGTALKFLE 
       110        120        130        140        150
GRKIKLVNIN STDIADGRPS IVLGLMWTII LYFQIEELTS NLPQLQSLSS 
       160        170        180        190        200
SASSVDSIVS SETPSPPSKR KVTTKIQGNA KKALLKWVQY TAGKQTGIEV 
       210        220        230        240        250
KDFGKSWRSG VAFHSVIHAI RPELVDLETV KGRSNRENLE DAFTIAETEL 
       260        270        280        290        300
GIPRLLDPED VDVDKPDEKS IMTYVAQFLK HYPDIHNAST DGQEDDEILP 
       310        320        330        340        350
GFPSFANSVQ NFKREDRVIF KEMKVWIEQF ERDLTRAQMV ESNLQDKYQS 
       360        370        380        390        400
FKHFRVQYEM KRKQIEHLIQ PLHRDGKLSL DQALVKQSWD RVTSRLFDWH 
       410        420        430        440        450
IQLDKSLPAP LGTIGAWLYR AEVALREEIT VQQVHEETAN TIQRKLEQHK 
       460        470        480        490        500
DLLQNTDAHK RAFHEIYRTR SVNGIPVPPD QLEDMAERFH FVSSTSELHL 
       510        520        530        540        550
MKMEFLELKY RLLSLLVLAE SKLKSWIIKY GRRESVEQLL QNYVSFIENS 
       560        570        580        590        600
KFFEQYEVTY QILKQTAEMY VKADGSVEEA ENVMKFMNET TAQWRNLSVE 
       610        620        630        640        650
VRSVRSMLEE VISNWDRYGN TVASLQAWLE DAEKMLNQSE NAKKDFFRNL 
       660        670        680        690        700
PHWIQQHTAM NDAGNFLIET CDEMVSRDLK QQLLLLNGRW RELFMEVKQY 
       710        720        730        740        750
AQADEMDRMK KEYTDCVVTL SAFATEAHKK LSEPLEVSFM NVKLLIQDLE 
       760        770        780        790        800
DIEQRVPVMD AQYKIITKTA HLITKESPQE EGKEMFATMS KLKEQLTKVK 
       810        820        830        840        850
ECYSPLLYES QQLLIPLEEL EKQMTSFYDS LGKINEIITV LEREAQSSAL 
       860        870        880        890        900
FKQKHQELLA CQENCKKTLT LIEKGSQSVQ KFVTLSNVLK HFDQTRLQRQ 
       910        920        930        940        950
IADIHVAFQS MVKKTGDWKK HVETNSRLMK KFEESRAELE KVLRIAQEGL 
       960        970        980        990       1000
EEKGDPEELL RRHTEFFSQL DQRVLNAFLK ACDELTDILP EQEQQGLQEA 
      1010       1020       1030       1040       1050
VRKLHKQWKD LQGEAPYHLL HLKIDVEKNR FLASVEECRT ELDRETKLMP 
      1060       1070       1080       1090       1100
QEGSEKIIKE HRVFFSDKGP HHLCEKRLQL IEELCVKLPV RDPVRDTPGT 
      1110       1120       1130       1140       1150
CHVTLKELRA AIDSTYRKLM EDPDKWKDYT SRFSEFSSWI STNETQLKGI 
      1160       1170       1180       1190       1200
KGEAIDTANH GEVKRAVEEI RNGVTKRGET LSWLKSRLKV LTEVSSENEA 
      1210       1220       1230       1240       1250
QKQGDELAKL SSSFKALVTL LSEVEKMLSN FGDCVQYKEI VKNSLEELIS 
      1260       1270       1280       1290       1300
GSKEVQEQAE KILDTENLFE AQQLLLHHQQ KTKRISAKKR DVQQQIAQAQ 
      1310       1320       1330       1340       1350
QGEGGLPDRG HEELRKLEST LDGLERSRER QERRIQVTLR KWERFETNKE 
      1360       1370       1380       1390       1400
TVVRYLFQTG SSHERFLSFS SLESLSSELE QTKEFSKRTE SIAVQAENLV 
      1410       1420       1430       1440       1450
KEASEIPLGP QNKQLLQQQA KSIKEQVKKL EDTLEEDIKT MEMVKTKWDH 
      1460       1470       1480       1490       1500
FGSNFETLSV WITEKEKELN ALETSSSAMD MQISQIKVTI QEIESKLSSI 
      1510       1520       1530       1540       1550
VGLEEEAQSF AQFVTTGESA RIKAKLTQIR RYGEELREHA QCLEGTILGH 
      1560       1570       1580       1590       1600
LSQQQKFEEN LRKIQQSVSE FEDKLAVPIK ICSSATETYK VLQEHMDLCQ 
      1610       1620       1630       1640       1650
ALESLSSAIT AFSASARKVV NRDSCVQEAA ALQQQYEDIL RRAKERQTAL 
      1660       1670       1680       1690       1700
ENLLAHWQRL EKELSSFLTW LERGEAKASS PEMDISADRV KVEGELQLIQ 
      1710       1720       1730       1740       1750
ALQNEVVSQA SFYSKLLQLK ESLFSVASKD DVKMMKLHLE QLDERWRDLP 
      1760       1770       1780       1790       1800
QIINKRINFL QSVVAEHQQF DELLLSFSVW IKLFLSELQT TSEISIMDHQ 
      1810       1820       1830       1840       1850
VALTRHKDHA AEVESKKGEL QSLQGHLAKL GSLGRAEDLH LLQGKAEDCF 
      1860       1870       1880       1890       1900
QLFEEASQVV ERRQLALSHL AEFLQSHASL SGILRQLRQT VEATNSMNKN 
      1910       1920       1930       1940       1950
ESDLIEKDLN DALQNAKALE SAAVSLDGIL SKAQYHLKIG SSEQRTSCRA 
      1960       1970       1980       1990       2000
TADQLCGEVE RIQNLLGTKQ SEADALAVLK KAFQDQKEEL LKSIEDIEER 
      2010       2020       2030       2040       2050
TDKERLKEPT RQALQQRLRV FNQLEDELNS HEHELCWLKD KAKQIAQKDV 
      2060       2070       2080       2090       2100
AFAPEVDREI NRLEVTWDDT KRLIHENQGQ CCGLIDLMRE YQNLKSAVSK 
      2110       2120       2130       2140       2150
VLENASSVIV TRTTIKDQED LKWAFSKHET AKNKMNYKQK DLDNFTSKGK 
      2160       2170       2180       2190       2200
HLLSELKKIH SSDFSLVKTD MESTVDKWLD VSEKLEENMD RLRVSLSIWD 
      2210       2220       2230       2240       2250
DVLSTRDEIE GWSNNCVPQM AENISNLDNH LRAEELLKEF ESEVKNKALR 
      2260       2270       2280       2290       2300
LEELHSKVND LKELTKNLET PPDLQFIEAD LMQKLEHAKE ITEVAKGTLK 
      2310       2320       2330       2340       2350
DFTAQSTQVE KFINDITTWF TKVEESLMNC AQNETCEALK KVKDIQKELQ 
      2360       2370       2380       2390       2400
SQQSNISSTQ ENLNSLCRKY HSAELESLGR AMTGLIKKHE AVSQLCSKTQ 
      2410       2420       2430       2440       2450
ASLQESLEKH FSESMQEFQE WFLGAKAAAK ESSDRTGDSK VLEAKLHDLQ 
      2460       2470       2480       2490       2500
NILDSVSDGQ SKLDAVTQEG QTLYAHLSKQ IVSSIQEQIT KANEEFQAFL 
      2510       2520       2530       2540       2550
KQCLKDKQAL QDCASELGSF EDQHRKLNLW IHEMEERFNT ENLGESKQHI 
      2560       2570       2580       2590       2600
PEKKNEVHKV EMFLGELLAA RESLDKLSQR GQLLSEEGHG AGQEGRLCSQ 
      2610       2620       2630       2640       2650
LLTSHQNLLR MTKEKLRSCQ VALQEHEALE EALQSMWFWV KAIQDRLACA 
      2660       2670       2680       2690       2700
ESTLGSKDTL EKRLSQIQDI LLMKGEGEVK LNMAIGKGEQ ALRSSNKEGQ 
      2710       2720       2730       2740       2750
RVIQTQLETL KEVWADIMSS SVHAQSTLES VISQWNDYVE RKNQLEQWME 
      2760       2770       2780       2790       2800
SVDQKIEHPL QPQPGLKEKF VLLDHLQSIL SEAEDHTRAL HRLIAKSREL 
      2810       2820       2830       2840       2850
YEKTEDESFK DTAQEELKTQ FNDIMTVAKE KMRKVEEIVK DHLMYLDAVH 
      2860       2870       2880       2890       2900
EFTDWLHSAK EELHRWSDMS GDSSATQKKL SKIKELIDSR EIGASRLSRV 
      2910       2920       2930       2940       2950
ESLAPEVKQN TTASGCELMH TEMQALRADW KQWEDSVFQT QSCLENLVSQ 
      2960       2970       2980       2990       3000
MALSEQEFSG QVAQLEQALE QFSALLKTWA QQLTLLEGKN TDEEIVECWH 
      3010       3020       3030       3040       3050
KGQEILDALQ KAEPRTEDLK SQLNELCRFS RDLSTYSGKV SGLIKEYNCL 
      3060       3070       3080       3090       3100
CLQASKGCQN KEQILQQRFR KAFRDFQQWL VNAKITTAKC FDIPQNISEV 
      3110       3120       3130       3140       3150
STSLQKIQEF LSESENGQHK LNMMLSKGEL LSTLLTKEKA KGIQAKVTAA 
      3160       3170       3180       3190       3200
KEDWKNFHSN LHQKESALEN LKIQMKDFEV SAEPIQDWLS KTEKMVHESS 
      3210       3220       3230       3240       3250
NRLYDLPAKR REQQKLQSVL EEIHCYEPQL NRLKEKAQQL WEGQAASKSF 
      3260       3270       3280       3290       3300
RHRVSQLSSQ YLALSNLTKE KVSRLDRIVA EHNQFSLGIK ELQDWMTDAI 
      3310       3320       3330       3340       3350
HMLDSYCHPT SDKSVLDSRT LKLEALLSVK QEKEIQMKMI VTRGESVLQN 
      3360       3370       3380       3390       3400
TSPEGIPTIQ QQLQSVKDMW ASLLSAGIRC KSQLEGALSK WTSYQDGVRQ 
      3410       3420       3430       3440       3450
FSGWMDSMEA NLNESERQHA ELRDKTTMLG KAKLLNEEVL SYSSLLETIE 
      3460       3470       3480       3490       3500
VKGAGMTEHY VTQLELQDLQ ERYRAIQERA KEAVTKSEKL VRLHQEYQRD 
      3510       3520       3530       3540       3550
LKAFEVWLGQ EQEKLDQYSV LEGDAHTHET TLRDLQELQV HCAEGQALLN 
      3560       3570       3580       3590       3600
SVLHTREDVI PSGIPQAEDR ALESLRQDWQ AYQHRLSETR TQFNNVVNKL 
      3610       3620       3630       3640       3650
RLMEQKFQQV DEWLKTAEEK VSPRTRRQSN RATKEIQLHQ MKKWHEEVTA 
      3660       3670       3680       3690       3700
YRDEVEEVGA RAQEILDESH VNSRMGCQAT QLTSRYQALL LQVLEQIKFL 
      3710       3720       3730       3740       3750
EEEIQSLEES ESSLSSYSDW YGSTHKNFKN VATKIDKVDT VMMGKKLKTL 
      3760       3770       3780       3790       3800
EVLLKDMEKG HSLLKSAREK GERAVKYLEE GEAERLRKEI HDHMEQLKEL 
      3810       3820       3830       3840       3850
TSTVRKEHMT LEKGLHLAKE FSDKCKALTQ WIAEYQEILH VPEEPKMELY 
      3860       3870       3880       3890       3900
EKKAQLSKYK SLQQTVLSHE PSVKSVREKG EALLELVQDV TLKDKIDQLQ 
      3910       3920       3930       3940       3950
SDYQDLCSIG KEHVFSLEAK VKDHEDYNSE LQEVEKWLLQ MSGRLVAPDL 
      3960       3970       3980       3990       4000
LETSSLETIT QQLAHHKAMM EEIAGFEDRL NNLQMKGDTL IGQCADHLQA 
      4010       4020       4030       4040       4050
KLKQNVHAHL QGTKDSYSAI CSTAQRMYQS LEHELQKHVS RQDTLQQCQA 
      4060       4070       4080       4090       4100
WLSAVQPDLE PSPQPPLSRA EAIKQVKHFR ALQEQARTYL DLLCSMCDLS 
      4110       4120       4130       4140       4150
NASVKTTAKD IQQTEQTIEQ KLVQAQNLTQ GWEEIKHLKS ELWIYLQDAD 
      4160       4170       4180       4190       4200
QQLQNMKRRH SELELNIAQN MVSQVKDFVK KLQSKQASVN TIIEKVNKLT 
      4210       4220       4230       4240       4250
KKEESPEHKE INHLNDQWLD LCRQSNNLCL QREEDLQRTR DYHDCMNVVE 
      4260       4270       4280       4290       4300
VFLEKFTTEW DNLARSDAES TAVHLEALKK LALALQERKY AIEDLKDQKQ 
      4310       4320       4330       4340       4350
KMIEHLNLDD KELVKEQTSH LEQRWFQLED LIKRKIQVSV TNLEELNVVQ 
      4360       4370       4380       4390       4400
SRFQELMEWA EEQQPNIAEA LKQSPPPDMA QNLLMDHLAI CSELEAKQML 
      4410       4420       4430       4440       4450
LKSLIKDADR VMADLGLNER QVIQKALSDA QSHVNCLSDL VGQRRKYLNK 
      4460       4470       4480       4490       4500
ALSEKTQFLM AVFQATSQIQ QHERKIMFRE HICLLPDDVS KQVKTCKSAQ 
      4510       4520       4530       4540       4550
ASLKTYQNEV TGLWAQGREL MKEVTEQEKS EVLGKLQELQ SVYDSVLQKC 
      4560       4570       4580       4590       4600
SHRLQELEKN LVSRKHFKED FDKACHWLKQ ADIVTFPEIN LMNESSELHT 
      4610       4620       4630       4640       4650
QLAKYQNILE QSPEYENLLL TLQRTGQTIL PSLNEVDHSY LSEKLNALPR 
      4660       4670       4680       4690       4700
QFNVIVALAK DKFYKVQEAI LARKEYASLI ELTTQSLSEL EAQFLRMSKV 
      4710       4720       4730       4740       4750
PTDLAVEEAL SLQDGCRAIL DEVAGLGEAV DELNQKKEGF RSTGQPWQPD 
      4760       4770       4780       4790       4800
KMLHLVTLYH RLKRQTEQRV SLLEDTTSAY QEHEKMCQQL ERQLKSVKEE 
      4810       4820       4830       4840       4850
QSKVNEETLP AEEKLKMYHS LAGSLQDSGI VLKRVTIHLE DLAPHLDPLA 
      4860       4870       4880       4890       4900
YEKARHQIQS WQGELKLLTS AIGETVTECE SRMVQSIDFQ TEMSRSLDWL 
      4910       4920       4930       4940       4950
RRVKAELSGP VYLDLNLQDI QEEIRKIQIH QEEVQSSLRI MNALSHKEKE 
      4960       4970       4980       4990       5000
KFTKAKELIS ADLEHSLAEL SELDGDIQEA LRTRQATLTE IYSQCQRYYQ 
      5010       5020       5030       5040       5050
VFQAANDWLE DAQELLQLAG NGLDVESAEE NLKSHMEFFS TEDQFHSNLE 
      5060       5070       5080       5090       5100
ELHSLVATLD PLIKPTGKED LEQKVASLEL RSQRMSRDSG AQVDLLQRCT 
      5110       5120       5130       5140       5150
AQWHDYQKAR EEVIELMNDT EKKLSEFSLL KTSSSHEAEE KLSEHKALVS 
      5160       5170       5180       5190       5200
VVNSFHEKIV ALEEKASQLE KTGNDASKAT LSRSMTTVWQ RWTRLRAVAQ 
      5210       5220       5230       5240       5250
DQEKILEDAV DEWTGFNNKV KKATEMIDQL QDKLPGSSAE KASKAELLTL 
      5260       5270       5280       5290       5300
LEYHDTFVLE LEQQQSALGM LRQQTLSMLQ DGAAPTPGEE PPLMQEITAM 
      5310       5320       5330       5340       5350
QDRCLNMQEK VKTNGKLVKQ ELKDREMVET QINSVKCWVQ ETKEYLGNPT 
      5360       5370       5380       5390       5400
IEIDAQLEEL QILLTEATNH RQNIEKMAEE QKEKYLGLYT ILPSELSLQL 
      5410       5420       5430       5440       5450
AEVALDLKIR DQIQDKIKEV EQSKATSQEL SRQIQKLAKD LTTILTKLKA 
      5460       5470       5480       5490       5500
KTDNVVQAKT DQKVLGEELD GCNSKLMELD AAVQKFLEQN GQLGKPLAKK 
      5510       5520       5530       5540       5550
IGKLTELHQQ TIRQAENRLS KLNQAASHLE EYNEMLELIL KWIEKAKVLA 
      5560       5570       5580       5590       5600
HGTIAWNSAS QLREQYILHQ TLLEESKEID SELEAMTEKL QYLTSVYCTE 
      5610       5620       5630       5640       5650
KMSQQVAELG RETEELRQMI KIRLQNLQDA AKDMKKFEAE LKKLQAALEQ 
      5660       5670       5680       5690       5700
AQATLTSPEV GRLSLKEQLS HRQHLLSEME SLKPKVQAVQ LCQSALRIPE 
      5710       5720       5730       5740       5750
DVVASLPLCH AALRLQEEAS RLQHTAIQQC NIMQEAVVQY EQYEQEMKHL 
      5760       5770       5780       5790       5800
QQLIEGAHRE IEDKPVATSN IQELQAQISR HEELAQKIKG YQEQIASLNS 
      5810       5820       5830       5840       5850
KCKMLTMKAK HATMLLTVTE VEGLAEGTED LDGELLPTPS AHPSVVMMTA 
      5860       5870       5880       5890       5900
GRCHTLLSPV TEESGEEGTN SEISSPPACR SPSPVANTDA SVNQDIAYYQ 
      5910       5920       5930       5940       5950
ALSAERLQTD AAKIHPSTSA SQEFYEPGLE PSATAKLGDL QRSWETLKNV 
      5960       5970       5980       5990       6000
ISEKQRTLYE ALERQQKYQD SLQSISTKME AIELKLSESP EPGRSPESQM 
      6010       6020       6030       6040       6050
AEHQALMDEI LMLQDEINEL QSSLAEELVS ESCEADPAEQ LALQSTLTVL 
      6060       6070       6080       6090       6100
AERMSTIRMK ASGKRQLLEE KLNDQLEEQR QEQALQRYRC EADELDSWLL 
      6110       6120       6130       6140       6150
STKATLDTAL SPPKEPMDME AQLMDCQNML VEIEQKVVAL SELSVHNENL 
      6160       6170       6180       6190       6200
LLEGKAHTKD EAEQLAGKLR RLKGSLLELQ RALHDKQLNM QGTAQEKEES 
      6210       6220       6230       6240       6250
DVDLTATQSP GVQEWLAQAR TTWTQQRQSS LQQQKELEQE LAEQKSLLRS 
      6260       6270       6280       6290       6300
VASRGEEILI QHSAAETSGD AGEKPDVLSQ ELGMEGEKSS AEDQMRMKWE 
      6310       6320       6330       6340       6350
SLHQEFSTKQ KLLQNVLEQE QEQVLYSRPN RLLSGVPLYK GDVPTQDKSA 
      6360       6370       6380       6390       6400
VTSLLDGLNQ AFEEVSSQSG GAKRQSIHLE QKLYDGVSAT STWLDDVEER 
      6410       6420       6430       6440       6450
LFVATALLPE ETETCLFNQE ILAKDIKEMS EEMDKNKNLF SQAFPENGDN 
      6460       6470       6480       6490       6500
RDVIEDTLGC LLGRLSLLDS VVNQRCHQMK ERLQQILNFQ NDLKVLFTSL 
      6510       6520       6530       6540       6550
ADNKYIILQK LANVFEQPVA EQIEAIQQAE DGLKEFDAGI IELKRRGDKL 
      6560       6570       6580       6590       6600
QVEQPSMQEL SKLQDMYDEL MMIIGSRRSG LNQNLTLKSQ YERALQDLAD 
      6610       6620       6630       6640       6650
LLETGQEKMA GDQKIIVSSK EEIQQLLDKH KEYFQGLESH MILTETLFRK 
      6660       6670       6680       6690       6700
IISFAVQKET QFHTELMAQA SAVLKRAHKR GVELEYILET WSHLDEDQQE 
      6710       6720       6730       6740       6750
LSRQLEVVES SIPSVGLVEE NEDRLIDRIT LYQHLKSSLN EYQPKLYQVL 
      6760       6770       6780       6790       6800
DDGKRLLISI SCSDLESQLN QLGECWLSNT NKMSKELHRL ETILKHWTRY 
      6810       6820       6830       6840       6850
QSESADLIHW LQSAKDRLEF WTQQSVTVPQ ELEMVRDHLN AFLEFSKEVD 
      6860       6870       6880       6890       6900
AQSSLKSSVL STGNQLLRLK KVDTATLRSE LSRIDSQWTD LLTNIPAVQE 
      6910       6920       6930       6940       6950
KLHQLQMDKL PSRHAISEVM SWISLMENVI QKDEDNIKNS IGYKAIHEYL 
      6960       6970       6980       6990       7000
QKYKGFKIDI NCKQLTVDFV NQSVLQISSQ DVESKRSDKT DFAEQLGAMN 
      7010       7020       7030       7040       7050
KSWQILQGLV TEKIQLLEGL LESWSEYENN VQCLKTWFET QEKRLKQQHR 
      7060       7070       7080       7090       7100
IGDQASVQNA LKDCQDLEDL IKAKEKEVEK IEQNGLALIQ NKKEDVSSIV 
      7110       7120       7130       7140       7150
MSTLRELGQT WANLDHMVGQ LKILLKSVLD QWSSHKVAFD KINSYLMEAR 
      7160       7170       7180       7190       7200
YSLSRFRLLT GSLEAVQVQV DNLQNLQDDL EKQERSLQKF GSITNQLLKE 
      7210       7220       7230       7240       7250
CHPPVTETLT NTLKEVNMRW NNLLEEIAEQ LQSSKALLQL WQRYKDYSKQ 
      7260       7270       7280       7290       7300
CASTVQQQED RTNELLKAAT NKDIADDEVA TWIQDCNDLL KGLGTVKDSL 
      7310       7320       7330       7340       7350
FFLHELGEQL KQQVDASAAS AIQSDQLSLS QHLCALEQAL CKQQTSLQAG 
      7360       7370       7380       7390       7400
VLDYETFAKS LEALEAWIVE AEEILQGQDP SHSSDLSTIQ ERMEELKGQM 
      7410       7420       7430       7440       7450
LKFSSMAPDL DRLNELGYRL PLNDKEIKRM QNLNRHWSLI SSQTTERFSK 
      7460       7470       7480       7490       7500
LQSFLLQHQT FLEKCETWME FLVQTEQKLA VEISGNYQHL LEQQRAHELF 
      7510       7520       7530       7540       7550
QAEMFSRQQI LHSIIIDGQR LLEQGQVDDR DEFNLKLTLL SNQWQGVIRR 
      7560       7570       7580       7590       7600
AQQRRGIIDS QIRQWQRYRE MAEKLRKWLV EVSYLPMSGL GSVPIPLQQA 
      7610       7620       7630       7640       7650
RTLFDEVQFK EKVFLRQQGS YILTVEAGKQ LLLSADSGAE AALQAELAEI 
      7660       7670       7680       7690       7700
QEKWKSASMR LEEQKKKLAF LLKDWEKCEK GIADSLEKLR TFKKKLSQSL 
      7710       7720       7730       7740       7750
PDHHEELHAE QMRCKELENA VGSWTDDLTQ LSLLKDTLSA YISADDISIL 
      7760       7770       7780       7790       7800
NERVELLQRQ WEELCHQLSL RRQQIGERLN EWAVFSEKNK ELCEWLTQME 
      7810       7820       7830       7840       7850
SKVSQNGDIL IEEMIEKLKK DYQEEIAIAQ ENKIQLQQMG ERLAKASHES 
      7860       7870       7880       7890       7900
KASEIEYKLG KVNDRWQHLL DLIAARVKKL KETLVAVQQL DKNMSSLRTW 
      7910       7920       7930       7940       7950
LAHIESELAK PIVYDSCNSE EIQRKLNEQQ ELQRDIEKHS TGVASVLNLC 
      7960       7970       7980       7990       8000
EVLLHDCDAC ATDAECDSIQ QATRNLDRRW RNICAMSMER RLKIEETWRL 
      8010       8020       8030       8040       8050
WQKFLDDYSR FEDWLKSSER TAAFPSSSGV IYTVAKEELK KFEAFQRQVH 
      8060       8070       8080       8090       8100
ECLTQLELIN KQYRRLAREN RTDSACSLKQ MVHEGNQRWD NLQKRVTSIL 
      8110       8120       8130       8140       8150
RRLKHFIGQR EEFETARDSI LVWLTEMDLQ LTNIEHFSEC DVQAKIKQLK 
      8160       8170       8180       8190       8200
AFQQEISLNH NKIEQIIAQG EQLIEKSEPL DAAIIEEELD ELRRYCQEVF 
      8210       8220       8230       8240       8250
GRVERYHKKL IRLPLPDDEH DLSDRELELE DSAALSDLHW HDRSADSLLS 
      8260       8270       8280       8290       8300
PQPSSNLSLS LAQPLRSERS GRDTPASVDS IPLEWDHDYD LSRDLESAMS 
      8310       8320       8330       8340       8350
RALPSEDEEG QDDKDFYLRG AVGLSGDHSA LESQIRQLGK ALDDSRFQIQ 
      8360       8370       8380       8390       8400
QTENIIRSKT PTGPELDTSY KGYMKLLGEC SSSIDSVKRL EHKLKEEEES 
      8410       8420       8430       8440       8450
LPGFVNLHST ETQTAGVIDR WELLQAQALS KELRMKQNLQ KWQQFNSDLN 
      8460       8470       8480       8490       8500
SIWAWLGDTE EELEQLQRLE LSTDIQTIEL QIKKLKELQK AVDHRKAIIL 
      8510       8520       8530       8540       8550
SINLCSPEFT QADSKESRDL QDRLSQMNGR WDRVCSLLEE WRGLLQDALM 
      8560       8570       8580       8590       8600
QCQGFHEMSH GLLLMLENID RRKNEIVPID SNLDAEILQD HHKQLMQIKH 
      8610       8620       8630       8640       8650
ELLESQLRVA SLQDMSCQLL VNAEGTDCLE AKEKVHVIGN RLKLLLKEVS 
      8660       8670       8680       8690       8700
RHIKELEKLL DVSSSQQDLS SWSSADELDT SGSVSPTSGR STPNRQKTPR 
      8710       8720       8730       8740       8750
GKCSLSQPGP SVSSPHSRST KGGSDSSLSE PGPGRSGRGF LFRVLRAALP 
      8760       8770       8780       8790 
LQLLLLLLIG LACLVPMSEE DYSCALSNNF ARSFHPMLRY TNGPPPL
Length:8,797
Mass (Da):1,011,086
Last modified:November 28, 2012 - v4
Checksum:i02A53B8AFBF34A17
GO
Isoform 2 (identifier: Q8NF91-2) [UniParc]FASTAAdd to Basket

Also known as: Beta

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

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

Also known as: Alpha

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

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

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

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

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

Note: No experimental confirmation available.

Show »
Length:1,443
Mass (Da):167,250
Checksum:i01D6C47A6D74C395
GO
Isoform 6 (identifier: Q8NF91-6) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:1,725
Mass (Da):199,267
Checksum:i1ED934CA22A45E49
GO
Isoform 7 (identifier: Q8NF91-7) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:5,580
Mass (Da):642,672
Checksum:iEEDEA59F5A4DBD2A
GO
Isoform 8 (identifier: Q8NF91-8) [UniParc]FASTAAdd to Basket

Also known as: Beta 2

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

Show »
Length:3,212
Mass (Da):367,873
Checksum:i9D23ECB198DE3636
GO
Isoform 9 (identifier: Q8NF91-9) [UniParc]FASTAAdd to Basket

Also known as: Alpha 2

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

Show »
Length:977
Mass (Da):111,583
Checksum:i621DAF9F731FEC9F
GO

Sequence cautioni

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

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiQ8NF91.

Polymorphism databases

DMDMi425906075.

Proteomic databases

MaxQBiQ8NF91.
PaxDbiQ8NF91.
PRIDEiQ8NF91.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367253; ENSP00000356222; ENSG00000131018. [Q8NF91-6]
ENST00000367255; ENSP00000356224; ENSG00000131018. [Q8NF91-1]
ENST00000413186; ENSP00000414510; ENSG00000131018. [Q8NF91-5]
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]

Organism-specific databases

CTDi23345.
GeneCardsiGC06M152442.
GeneReviewsiSYNE1.
HGNCiHGNC:17089. SYNE1.
HPAiHPA019113.
MIMi608441. gene.
610743. phenotype.
612998. phenotype.
neXtProtiNX_Q8NF91.
Orphaneti98853. Autosomal dominant Emery-Dreifuss muscular dystrophy.
88644. Autosomal recessive ataxia, Beauce type.
319332. Autosomal recessive myogenic arthrogryposis multiplex congenita.
PharmGKBiPA134975331.
HUGEiSearch...
Search...
Search...
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiREACT_75792. Meiotic synapsis.

Miscellaneous databases

ChiTaRSiSYNE1. human.
GeneWikiiEnaptin.
GenomeRNAii23345.
NextBioi45305.
PROiQ8NF91.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NF91.
ExpressionAtlasiQ8NF91. baseline and differential.
GenevestigatoriQ8NF91.

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.
IPR030265. SYNE1.
[Graphical view]
PANTHERiPTHR11915:SF267. PTHR11915:SF267. 1 hit.
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]
ProtoNetiSearch...

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.
+Additional computationally mapped references.

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: February 4, 2015
This is version 143 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

Similar proteinsi

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