SYNE1

Functionⁱ

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

GO - Molecular functionⁱ

actin binding
Source: UniProtKB
Inferred from direct assayⁱ
- 12408964
actin filament binding Source: UniProtKB
identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 12163176
lamin binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 11801724
poly(A) RNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 22658674
- 22681889
protein homodimerization activity Source: UniProtKB

GO - Biological processⁱ

cytoskeletal anchoring at nuclear membrane
Source: UniProtKB
Inferred from direct assayⁱ
- 18396275
establishment of nucleus localization Source: Ensembl
Golgi organization
Source: UniProtKB
Inferred from direct assayⁱ
- 12808039
muscle cell differentiation
Source: UniProtKB
Inferred from direct assayⁱ
- 11792814
nuclear matrix anchoring at nuclear membrane
Source: UniProtKB
Inferred from direct assayⁱ
- 11801724
nucleus organization
Source: UniProtKB
Non-traceable author statementⁱ
- 11792814

Complete GO annotation...

Keywords - Ligandⁱ

Actin-binding

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1221632. Meiotic synapsis.

Reactomeⁱ

R-HSA-1221632. Meiotic synapsis.

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Nesprin-1 Alternative name(s): Enaptin Myocyte nuclear envelope protein 1 Short name: Myne-1 Nuclear envelope spectrin repeat protein 1 Synaptic nuclear envelope protein 1 Short name: Syne-1
Gene namesⁱ	Name:SYNE1 Synonyms:C6orf98, KIAA0796, KIAA1262, KIAA1756, MYNE1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 6

Organism-specific databases

HGNCⁱ	HGNC:17089. SYNE1.

HGNCⁱ

HGNC: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.

Isoform GSRP-56 :

Golgi apparatus
1 Publication
Manual assertion based on experiment inⁱ
- Ref.19
  "Identification and characterization of GSRP-56, a novel Golgi-localized spectrin repeat-containing protein."
  Kobayashi Y., Katanosaka Y., Iwata Y., Matsuoka M., Shigekawa M., Wakabayashi S.
  Exp. Cell Res. 312:3152-3164(2006) [PubMed] [Europe PMC] [Abstract]
  Cited for: ALTERNATIVE SPLICING (ISOFORM GSRP-56), SUBCELLULAR LOCATION (ISOFORM GSRP-56), INTERACTION WITH TRPV2 (ISOFORM GSRP-56), TISSUE SPECIFICITY (ISOFORM GSRP-56).

Topology

Feature key	Position(s)	Length	Description	Actions
Topological domainⁱ	1 – 8746	8746	CytoplasmicPROSITE-ProRule annotation Manual assertion according to rulesⁱ PROSITE-ProRule:PRU00385	Add BLAST
Transmembraneⁱ	8747 – 8767	21	Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotation Manual assertion according to rulesⁱ PROSITE-ProRule:PRU00385	Add BLAST
Topological domainⁱ	8768 – 8797	30	Perinuclear spacePROSITE-ProRule annotation Manual assertion according to rulesⁱ PROSITE-ProRule:PRU00385	Add BLAST

GO - Cellular componentⁱ

cytoplasm
Source: UniProtKB
Inferred from direct assayⁱ
- 11792814
cytoskeleton Source: UniProtKB-SubCell
Golgi apparatus
Source: UniProtKB
Inferred from direct assayⁱ
- 12808039
integral component of membrane
Source: UniProtKB
Inferred from direct assayⁱ
- 11792814
LINC complex
Source: UniProtKB
Inferred from direct assayⁱ
- 18396275
nuclear envelope
Source: UniProtKB
Inferred from direct assayⁱ
- 11792814
nuclear membrane Source: HPA
nuclear outer membrane Source: UniProtKB-SubCell
nucleoplasm Source: HPA
nucleus
Source: UniProtKB
Inferred from direct assayⁱ
- 21630459
postsynaptic membrane
Source: UniProtKB
Inferred from direct assayⁱ
- 10878022
sarcomere
Source: MGI
Inferred from direct assayⁱ
- 12408964

Complete GO annotation...

Keywords - Cellular componentⁱ

Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8)1 Publication
Manual assertion based on experiment inⁱ
Ref.20
"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.

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.

Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)1 Publication
Manual assertion based on experiment inⁱ
Ref.27
"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.

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.

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	8095 – 8095	1	R → H in EDMD4. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "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. Corresponds to variant rs119103246 [ dbSNP \| Ensembl ].	VAR_062974
Natural variantⁱ	8387 – 8387	1	V → L in EDMD4. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "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. Corresponds to variant rs119103247 [ dbSNP \| Ensembl ].	VAR_062975
Natural variantⁱ	8461 – 8461	1	E → K in EDMD4. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "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. Corresponds to variant rs119103248 [ dbSNP \| Ensembl ].	VAR_062976

Mutagenesis

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Mutagenesisⁱ	8758 – 8763	6	Missing : Abolishes the nuclear envelope targeting, induces a cytoplasmic localization. 1 Publication Manual assertion based on experiment inⁱ Ref.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.

Keywords - Diseaseⁱ

Disease mutation, Emery-Dreifuss muscular dystrophy, Neurodegeneration

Organism-specific databases

MalaCardsⁱ	SYNE1.
MIMⁱ	610743. phenotype. 612998. phenotype.
Orphanetⁱ	98853. Autosomal dominant Emery-Dreifuss muscular dystrophy. 88644. Autosomal recessive ataxia, Beauce type. 319332. Autosomal recessive myogenic arthrogryposis multiplex congenita.
PharmGKBⁱ	PA134975331.

Polymorphism and mutation databases

BioMutaⁱ	SYNE1.
DMDMⁱ	425906075.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Chainⁱ	1 – 8797	8797	Nesprin-1		PRO_0000163591	Add BLAST

Amino acid modifications

Feature key	Position(s)	Length	Description
Modified residueⁱ	732 – 732	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:Q6ZWR6 (SYNE1_MOUSE)
Modified residueⁱ	2270 – 2270	1	PhosphothreonineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:Q6ZWR6 (SYNE1_MOUSE)
Modified residueⁱ	5657 – 5657	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:Q6ZWR6 (SYNE1_MOUSE)
Modified residueⁱ	8223 – 8223	1	PhosphoserineCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.18 "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]. Ref.25 "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome." Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H. J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-8223 AND THR-8360, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Modified residueⁱ	8274 – 8274	1	PhosphothreonineCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.18 "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].
Modified residueⁱ	8277 – 8277	1	PhosphoserineCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.18 "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].
Modified residueⁱ	8280 – 8280	1	PhosphoserineCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.18 "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].
Modified residueⁱ	8305 – 8305	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:Q6ZWR6 (SYNE1_MOUSE)
Modified residueⁱ	8360 – 8360	1	PhosphothreonineCombined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ Ref.25 "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome." Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H. J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-8223 AND THR-8360, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

EPDⁱ	Q8NF91.
MaxQBⁱ	Q8NF91.
PaxDbⁱ	Q8NF91.
PeptideAtlasⁱ	Q8NF91.
PRIDEⁱ	Q8NF91.

PTM databases

iPTMnetⁱ	Q8NF91.
PhosphoSiteⁱ	Q8NF91.

Expressionⁱ

Tissue specificityⁱ

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

Gene expression databases

Bgeeⁱ	ENSG00000131018.
ExpressionAtlasⁱ	Q8NF91. baseline and differential.
Genevisibleⁱ	Q8NF91. HS.

Organism-specific databases

HPAⁱ	HPA019113.

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

With	Entry	#Exp.	IntAct
DISC1	Q9NRI5	6	EBI-928867,EBI-529989
EMD	P50402	5	EBI-10760352,EBI-489887
SUN1	O94901	2	EBI-6170938,EBI-2796904
SUN2	Q9UH99	3	EBI-928867,EBI-1044964

With

Entry

#Exp.

IntAct

Notes

DISC1

Q9NRI5

6

EBI-928867,EBI-529989

EMD

P50402

5

EBI-10760352,EBI-489887

SUN1

O94901

2

EBI-6170938,EBI-2796904

SUN2

Q9UH99

3

EBI-928867,EBI-1044964

GO - Molecular functionⁱ

actin binding
Source: UniProtKB
Inferred from direct assayⁱ
- 12408964
actin filament binding Source: UniProtKB
identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 12163176
lamin binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 11801724
protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridⁱ	116928. 34 interactions.
IntActⁱ	Q8NF91. 20 interactions.
MINTⁱ	MINT-6489007.
STRINGⁱ	9606.ENSP00000356224.

Structureⁱ

Secondary structure

1

8797

Legend: HelixTurnBeta strand

Show more details

Feature key	Position(s)	Length	Description
Helixⁱ	8780 – 8782	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:4DXR
Beta strandⁱ	8783 – 8785	3	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:4DXR
Beta strandⁱ	8787 – 8793	7	Combined sources Manual assertion inferred from combination of experimental and computational evidenceⁱ PDB:4DXR

3D structure databases

Select the link destinations:
PDBeⁱ
RCSB PDBⁱ
PDBjⁱ

Links Updated

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
4DXR	X-ray	2.32	B	8769-8797	[»]

ProteinModelPortalⁱ

Q8NF91.

ModBaseⁱ

Search...

MobiDBⁱ

Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	Length	Description	Actions
Domainⁱ	1 – 289	289	Actin-binding	Add BLAST
Domainⁱ	27 – 134	108	CH 1PROSITE-ProRule annotation Manual assertion according to rulesⁱ PROSITE-ProRule:PRU00044	Add BLAST
Domainⁱ	178 – 283	106	CH 2PROSITE-ProRule annotation Manual assertion according to rulesⁱ PROSITE-ProRule:PRU00044	Add BLAST
Repeatⁱ	314 – 397	84	Spectrin 1	Add BLAST
Repeatⁱ	398 – 502	105	Spectrin 2	Add BLAST
Repeatⁱ	503 – 609	107	Spectrin 3	Add BLAST
Repeatⁱ	610 – 703	94	Spectrin 4	Add BLAST
Repeatⁱ	704 – 815	112	Spectrin 5	Add BLAST
Repeatⁱ	816 – 923	108	Spectrin 6	Add BLAST
Repeatⁱ	924 – 1024	101	Spectrin 7	Add BLAST
Repeatⁱ	1025 – 1122	98	Spectrin 8	Add BLAST
Repeatⁱ	1123 – 1246	124	Spectrin 9	Add BLAST
Repeatⁱ	1247 – 1335	89	Spectrin 10	Add BLAST
Repeatⁱ	1336 – 1444	109	Spectrin 11	Add BLAST
Repeatⁱ	1445 – 1550	106	Spectrin 12	Add BLAST
Repeatⁱ	1551 – 1653	103	Spectrin 13	Add BLAST
Repeatⁱ	1654 – 1763	110	Spectrin 14	Add BLAST
Repeatⁱ	1764 – 1879	116	Spectrin 15	Add BLAST
Repeatⁱ	1880 – 1976	97	Spectrin 16	Add BLAST
Repeatⁱ	1977 – 2081	105	Spectrin 17	Add BLAST
Repeatⁱ	2082 – 2195	114	Spectrin 18	Add BLAST
Repeatⁱ	2196 – 2303	108	Spectrin 19	Add BLAST
Repeatⁱ	2304 – 2401	98	Spectrin 20	Add BLAST
Repeatⁱ	2402 – 2513	112	Spectrin 21	Add BLAST
Repeatⁱ	2514 – 2619	106	Spectrin 22	Add BLAST
Repeatⁱ	2620 – 2731	112	Spectrin 23	Add BLAST
Repeatⁱ	2732 – 2838	107	Spectrin 24	Add BLAST
Repeatⁱ	2839 – 2962	124	Spectrin 25	Add BLAST
Repeatⁱ	2963 – 3062	100	Spectrin 26	Add BLAST
Repeatⁱ	3063 – 3171	109	Spectrin 27	Add BLAST
Repeatⁱ	3172 – 3275	104	Spectrin 28	Add BLAST
Repeatⁱ	3276 – 3387	112	Spectrin 29	Add BLAST
Repeatⁱ	3388 – 3490	103	Spectrin 30	Add BLAST
Repeatⁱ	3491 – 3593	103	Spectrin 31	Add BLAST
Repeatⁱ	3594 – 3720	127	Spectrin 32	Add BLAST
Repeatⁱ	3721 – 3814	94	Spectrin 33	Add BLAST
Repeatⁱ	3815 – 3920	106	Spectrin 34	Add BLAST
Repeatⁱ	3921 – 4028	108	Spectrin 35	Add BLAST
Repeatⁱ	4029 – 4139	111	Spectrin 36	Add BLAST
Repeatⁱ	4140 – 4235	96	Spectrin 37	Add BLAST
Repeatⁱ	4236 – 4339	104	Spectrin 38	Add BLAST
Repeatⁱ	4340 – 4451	112	Spectrin 39	Add BLAST
Repeatⁱ	4452 – 4560	109	Spectrin 40	Add BLAST
Repeatⁱ	4561 – 4669	109	Spectrin 41	Add BLAST
Repeatⁱ	4670 – 4776	107	Spectrin 42	Add BLAST
Repeatⁱ	4777 – 4882	106	Spectrin 43	Add BLAST
Repeatⁱ	4883 – 4991	109	Spectrin 44	Add BLAST
Repeatⁱ	4992 – 5099	108	Spectrin 45	Add BLAST
Repeatⁱ	5100 – 5209	110	Spectrin 46	Add BLAST
Repeatⁱ	5210 – 5318	109	Spectrin 47	Add BLAST
Repeatⁱ	5319 – 5424	106	Spectrin 48	Add BLAST
Repeatⁱ	5425 – 5522	98	Spectrin 49	Add BLAST
Repeatⁱ	5523 – 5630	108	Spectrin 50	Add BLAST
Repeatⁱ	5631 – 5736	106	Spectrin 51	Add BLAST
Repeatⁱ	5737 – 5842	106	Spectrin 52	Add BLAST
Repeatⁱ	5962 – 6071	110	Spectrin 53	Add BLAST
Repeatⁱ	6072 – 6178	107	Spectrin 54	Add BLAST
Repeatⁱ	6374 – 6485	112	Spectrin 55	Add BLAST
Repeatⁱ	6486 – 6581	96	Spectrin 56	Add BLAST
Repeatⁱ	6582 – 6691	110	Spectrin 57	Add BLAST
Repeatⁱ	6692 – 6795	104	Spectrin 58	Add BLAST
Repeatⁱ	6796 – 6902	107	Spectrin 59	Add BLAST
Repeatⁱ	6903 – 7020	118	Spectrin 60	Add BLAST
Repeatⁱ	7021 – 7128	108	Spectrin 61	Add BLAST
Repeatⁱ	7129 – 7237	109	Spectrin 62	Add BLAST
Repeatⁱ	7238 – 7350	113	Spectrin 63	Add BLAST
Repeatⁱ	7351 – 7454	104	Spectrin 64	Add BLAST
Repeatⁱ	7455 – 7558	104	Spectrin 65	Add BLAST
Repeatⁱ	7559 – 7671	113	Spectrin 66	Add BLAST
Repeatⁱ	7672 – 7783	112	Spectrin 67	Add BLAST
Repeatⁱ	7784 – 7883	100	Spectrin 68	Add BLAST
Repeatⁱ	7884 – 7997	114	Spectrin 69	Add BLAST
Repeatⁱ	7998 – 8106	109	Spectrin 70	Add BLAST
Repeatⁱ	8107 – 8216	110	Spectrin 71	Add BLAST
Repeatⁱ	8329 – 8438	110	Spectrin 72	Add BLAST
Repeatⁱ	8439 – 8548	110	Spectrin 73	Add BLAST
Repeatⁱ	8549 – 8666	118	Spectrin 74	Add BLAST
Domainⁱ	8738 – 8797	60	KASHPROSITE-ProRule annotation Manual assertion according to rulesⁱ PROSITE-ProRule:PRU00385	Add BLAST

Coiled coil

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Coiled coilⁱ	314 – 8666	8353	Sequence analysis			Add BLAST

Compositional bias

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Compositional biasⁱ	8663 – 8729	67	Ser-rich			Add BLAST

Domainⁱ

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

Sequence similaritiesⁱ

Belongs to the nesprin family.Curated

Contains 1 actin-binding domain.Curated

Contains 2 CH (calponin-homology) domains.PROSITE-ProRule annotation

Contains 1 KASH domain.PROSITE-ProRule annotation

Contains 74 spectrin repeats.Curated

Keywords - Domainⁱ

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG0516. Eukaryota. COG5069. LUCA.
GeneTreeⁱ	ENSGT00760000118813.
HOVERGENⁱ	HBG066187.
InParanoidⁱ	Q8NF91.
KOⁱ	K19326.
OMAⁱ	QVRCAEG.
OrthoDBⁱ	EOG091G0007.
TreeFamⁱ	TF329280.

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. IPR030265. SYNE1. [Graphical view]
PANTHERⁱ	PTHR11915:SF267. PTHR11915:SF267. 10 hits.
Pfamⁱ	PF00307. CH. 2 hits. PF10541. KASH. 1 hit. PF00435. Spectrin. 10 hits. [Graphical view]
SMARTⁱ	SM00033. CH. 2 hits. SM01249. KASH. 1 hit. 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]

Sequences (12)ⁱ

Sequence statusⁱ: Complete.

This entry describes 12 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Sequence cautionⁱ

The sequence AAC02992 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

The sequence AAH39121 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

The sequence AAM95335 differs from that shown.Contaminating sequence. Sequence of unknown origin.Curated

The sequence BAB71097 differs from that shown.Chimeric cDNA.Curated

The sequence BAC04284 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

The sequence CAD28486 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature key	Position(s)	Length	Description
Sequence conflictⁱ	98 – 98	1	F → L in AAN60442 (PubMed:12408964).Curated
Sequence conflictⁱ	494 – 494	1	S → P in AAM95335 (PubMed:12808039).Curated
Sequence conflictⁱ	1440 – 1440	1	T → P in CAD28486 (PubMed:17974005).Curated
Sequence conflictⁱ	3096 – 3096	1	N → D in BAB71097 (PubMed:14702039).Curated
Sequence conflictⁱ	5526 – 5526	1	A → T in AAL33798 (PubMed:11792814).Curated
Sequence conflictⁱ	5564 – 5564	1	E → K in AAL33798 (PubMed:11792814).Curated
Sequence conflictⁱ	5735 – 5735	1	E → A in AAN03486 (PubMed:15093733).Curated
Sequence conflictⁱ	6549 – 6549	1	K → E in AAL33798 (PubMed:11792814).Curated
Sequence conflictⁱ	6549 – 6549	1	K → E in AAN60442 (PubMed:12408964).Curated
Sequence conflictⁱ	6549 – 6549	1	K → E in AAO27774 (Ref. 6) Curated
Sequence conflictⁱ	6626 – 6626	1	L → P in AAL33798 (PubMed:11792814).Curated
Sequence conflictⁱ	6626 – 6626	1	L → P in AAN60442 (PubMed:12408964).Curated
Sequence conflictⁱ	6626 – 6626	1	L → P in AAO27774 (Ref. 6) Curated
Sequence conflictⁱ	6645 – 6645	1	E → V in AAL33798 (PubMed:11792814).Curated
Sequence conflictⁱ	6645 – 6645	1	E → V in AAN60442 (PubMed:12408964).Curated
Sequence conflictⁱ	6645 – 6645	1	E → V in AAO27774 (Ref. 6) Curated
Sequence conflictⁱ	6923 – 6923	1	I → T in AAL33798 (PubMed:11792814).Curated
Sequence conflictⁱ	6923 – 6923	1	I → T in AAN60442 (PubMed:12408964).Curated
Sequence conflictⁱ	6923 – 6923	1	I → T in AAO27774 (Ref. 6) Curated
Sequence conflictⁱ	6929 – 6929	1	V → A in AAL33798 (PubMed:11792814).Curated
Sequence conflictⁱ	6929 – 6929	1	V → A in AAN60442 (PubMed:12408964).Curated
Sequence conflictⁱ	6929 – 6929	1	V → A in AAO27774 (Ref. 6) Curated
Sequence conflictⁱ	7075 – 7075	1	E → D in AAL33798 (PubMed:11792814).Curated
Sequence conflictⁱ	7075 – 7075	1	E → D in AAN60442 (PubMed:12408964).Curated
Sequence conflictⁱ	7075 – 7075	1	E → D in AAO27774 (Ref. 6) Curated
Sequence conflictⁱ	7091 – 7091	1	N → T in AAL33798 (PubMed:11792814).Curated
Sequence conflictⁱ	7091 – 7091	1	N → T in AAN60442 (PubMed:12408964).Curated
Sequence conflictⁱ	7091 – 7091	1	N → T in AAO27774 (Ref. 6) Curated

Natural variant

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	655 – 655	1	Q → R Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 Publication Manual assertion based on experiment inⁱ Ref.28 "Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing." Schuurs-Hoeijmakers J.H., Vulto-van Silfhout A.T., Vissers L.E., van de Vondervoort I.I., van Bon B.W., de Ligt J., Gilissen C., Hehir-Kwa J.Y., Neveling K., del Rosario M., Hira G., Reitano S., Vitello A., Failla P., Greco D., Fichera M., Galesi O., Kleefstra T. de Brouwer A.P. J. Med. Genet. 50:802-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARG-655; THR-3088 AND SER-3892. Corresponds to variant rs9397509 [ dbSNP \| Ensembl ].	VAR_056211
Natural variantⁱ	885 – 885	1	L → V. Corresponds to variant rs17082709 [ dbSNP \| Ensembl ].	VAR_056212
Natural variantⁱ	1035 – 1035	1	V → A. Corresponds to variant rs214976 [ dbSNP \| Ensembl ].	VAR_056213
Natural variantⁱ	1062 – 1062	1	R → S.1 Publication Manual assertion based on experiment inⁱ Ref.29 "Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas." Cromer M.K., Choi M., Nelson-Williams C., Fonseca A.L., Kunstman J.W., Korah R.M., Overton J.D., Mane S., Kenney B., Malchoff C.D., Stalberg P., Akerstroem G., Westin G., Hellman P., Carling T., Bjoerklund P., Lifton R.P. Proc. Natl. Acad. Sci. U.S.A. 112:4062-4067(2015) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SER-1062.	VAR_074190
Natural variantⁱ	2030 – 2030	1	S → G. Corresponds to variant rs35763277 [ dbSNP \| Ensembl ].	VAR_056214
Natural variantⁱ	2795 – 2795	1	A → V. Corresponds to variant rs214950 [ dbSNP \| Ensembl ].	VAR_056215
Natural variantⁱ	3088 – 3088	1	A → T Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 Publication Manual assertion based on experiment inⁱ Ref.28 "Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing." Schuurs-Hoeijmakers J.H., Vulto-van Silfhout A.T., Vissers L.E., van de Vondervoort I.I., van Bon B.W., de Ligt J., Gilissen C., Hehir-Kwa J.Y., Neveling K., del Rosario M., Hira G., Reitano S., Vitello A., Failla P., Greco D., Fichera M., Galesi O., Kleefstra T. de Brouwer A.P. J. Med. Genet. 50:802-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARG-655; THR-3088 AND SER-3892. Corresponds to variant rs398123005 [ dbSNP \| Ensembl ].	VAR_070561
Natural variantⁱ	3671 – 3671	1	V → M in a colorectal cancer sample; somatic mutation. 1 Publication Manual assertion based on experiment inⁱ Ref.26 "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COLORECTAL CANCER [LARGE SCALE ANALYSIS] MET-3671; ASP-4210; HIS-4223; ARG-5507 AND HIS-8468. Corresponds to variant rs567753957 [ dbSNP \| Ensembl ].	VAR_036250
Natural variantⁱ	3874 – 3874	1	K → T. Corresponds to variant rs13210127 [ dbSNP \| Ensembl ].	VAR_056216
Natural variantⁱ	3892 – 3892	1	L → S Found in a patient with mild intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy; unknown pathological significance. 1 Publication Manual assertion based on experiment inⁱ Ref.28 "Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing." Schuurs-Hoeijmakers J.H., Vulto-van Silfhout A.T., Vissers L.E., van de Vondervoort I.I., van Bon B.W., de Ligt J., Gilissen C., Hehir-Kwa J.Y., Neveling K., del Rosario M., Hira G., Reitano S., Vitello A., Failla P., Greco D., Fichera M., Galesi O., Kleefstra T. de Brouwer A.P. J. Med. Genet. 50:802-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARG-655; THR-3088 AND SER-3892. Corresponds to variant rs180727534 [ dbSNP \| Ensembl ].	VAR_070562
Natural variantⁱ	3954 – 3954	1	S → T. Corresponds to variant rs7775119 [ dbSNP \| Ensembl ].	VAR_056217
Natural variantⁱ	4060 – 4060	1	E → D. Corresponds to variant rs4645434 [ dbSNP \| Ensembl ].	VAR_056218
Natural variantⁱ	4121 – 4121	1	K → N. Corresponds to variant rs28385621 [ dbSNP \| Ensembl ].	VAR_056219
Natural variantⁱ	4121 – 4121	1	K → R. Corresponds to variant rs9479297 [ dbSNP \| Ensembl ].	VAR_056220
Natural variantⁱ	4203 – 4203	1	E → K. Corresponds to variant rs2130262 [ dbSNP \| Ensembl ].	VAR_056221
Natural variantⁱ	4210 – 4210	1	E → D in a colorectal cancer sample; somatic mutation. 1 Publication Manual assertion based on experiment inⁱ Ref.26 "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COLORECTAL CANCER [LARGE SCALE ANALYSIS] MET-3671; ASP-4210; HIS-4223; ARG-5507 AND HIS-8468.	VAR_036251
Natural variantⁱ	4223 – 4223	1	R → H in a colorectal cancer sample; somatic mutation. 1 Publication Manual assertion based on experiment inⁱ Ref.26 "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COLORECTAL CANCER [LARGE SCALE ANALYSIS] MET-3671; ASP-4210; HIS-4223; ARG-5507 AND HIS-8468. Corresponds to variant rs140492158 [ dbSNP \| Ensembl ].	VAR_036252
Natural variantⁱ	4546 – 4546	1	V → I. Corresponds to variant rs4870093 [ dbSNP \| Ensembl ].	VAR_056222
Natural variantⁱ	4596 – 4596	1	S → T.2 Publications Manual assertion based on experiment inⁱ Ref.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. Ref.13 "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. Corresponds to variant rs6911096 [ dbSNP \| Ensembl ].	VAR_056223
Natural variantⁱ	4944 – 4944	1	L → M. Corresponds to variant rs2306916 [ dbSNP \| Ensembl ].	VAR_056224
Natural variantⁱ	5015 – 5015	1	L → M.2 Publications Manual assertion based on experiment inⁱ Ref.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. Ref.13 "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. Corresponds to variant rs2306916 [ dbSNP \| Ensembl ].	VAR_056225
Natural variantⁱ	5377 – 5377	1	M → L. Corresponds to variant rs35987150 [ dbSNP \| Ensembl ].	VAR_056226
Natural variantⁱ	5426 – 5426	1	T → M. Corresponds to variant rs2306914 [ dbSNP \| Ensembl ].	VAR_056227
Natural variantⁱ	5507 – 5507	1	L → R in a colorectal cancer sample; somatic mutation. 1 Publication Manual assertion based on experiment inⁱ Ref.26 "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COLORECTAL CANCER [LARGE SCALE ANALYSIS] MET-3671; ASP-4210; HIS-4223; ARG-5507 AND HIS-8468.	VAR_036253
Natural variantⁱ	6566 – 6566	1	M → I. Corresponds to variant rs35654757 [ dbSNP \| Ensembl ].	VAR_056228
Natural variantⁱ	6664 – 6664	1	T → I. Corresponds to variant rs35079654 [ dbSNP \| Ensembl ].	VAR_056229
Natural variantⁱ	6951 – 6951	1	Q → H. Corresponds to variant rs3945783 [ dbSNP \| Ensembl ].	VAR_056230
Natural variantⁱ	7302 – 7302	1	F → V.4 Publications Manual assertion based on experiment inⁱ Ref.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. Ref.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. Ref.6 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. Ref.14 "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. Corresponds to variant rs2147377 [ dbSNP \| Ensembl ].	VAR_056231
Natural variantⁱ	7506 – 7506	1	S → G. Corresponds to variant rs35763277 [ dbSNP \| Ensembl ].	VAR_056232
Natural variantⁱ	8095 – 8095	1	R → H in EDMD4. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "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. Corresponds to variant rs119103246 [ dbSNP \| Ensembl ].	VAR_062974
Natural variantⁱ	8161 – 8161	1	N → H. Corresponds to variant rs36215251 [ dbSNP \| Ensembl ].	VAR_056233
Natural variantⁱ	8168 – 8168	1	A → S. Corresponds to variant rs17082236 [ dbSNP \| Ensembl ].	VAR_056234
Natural variantⁱ	8323 – 8323	1	G → A.5 Publications Manual assertion based on experiment inⁱ Ref.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. Ref.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. Ref.3 "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] (ISOFORM 11), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ALA-8323. Ref.6 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. Ref.14 "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. Corresponds to variant rs2252755 [ dbSNP \| Ensembl ].	VAR_015548
Natural variantⁱ	8387 – 8387	1	V → L in EDMD4. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "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. Corresponds to variant rs119103247 [ dbSNP \| Ensembl ].	VAR_062975
Natural variantⁱ	8461 – 8461	1	E → K in EDMD4. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "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. Corresponds to variant rs119103248 [ dbSNP \| Ensembl ].	VAR_062976
Natural variantⁱ	8468 – 8468	1	R → H in a colorectal cancer sample; somatic mutation. 1 Publication Manual assertion based on experiment inⁱ Ref.26 "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COLORECTAL CANCER [LARGE SCALE ANALYSIS] MET-3671; ASP-4210; HIS-4223; ARG-5507 AND HIS-8468. Corresponds to variant rs143049227 [ dbSNP \| Ensembl ].	VAR_036254
Natural variantⁱ	8687 – 8687	1	T → I. Corresponds to variant rs35591210 [ dbSNP \| Ensembl ].	VAR_056235
Natural variantⁱ	8741 – 8741	1	L → M. Corresponds to variant rs2295190 [ dbSNP \| Ensembl ].	VAR_056236

Alternative sequence

Feature key	Position(s)	Length	Description	Feature identifier	Actions
Alternative sequenceⁱ	1 – 7843	7843	Missing in isoform 9. 1 Publication Manual assertion based on opinion inⁱ Ref.6 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.	VSP_007133	Add BLAST
Alternative sequenceⁱ	1 – 7838	7838	Missing in isoform 3. 1 Publication Manual assertion based on opinion inⁱ Ref.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.	VSP_007132	Add BLAST
Alternative sequenceⁱ	1 – 7658	7658	Missing in isoform 11. 1 Publication Manual assertion based on opinion inⁱ Ref.3 "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] (ISOFORM 11), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ALA-8323.	VSP_057476	Add BLAST
Alternative sequenceⁱ	1 – 5585	5585	Missing in isoform 8. 1 Publication Manual assertion based on opinion inⁱ Ref.6 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.	VSP_007131	Add BLAST
Alternative sequenceⁱ	1 – 5476	5476	Missing in isoform 2. 1 Publication Manual assertion based on opinion inⁱ Ref.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.	VSP_007130	Add BLAST
Alternative sequenceⁱ	1 – 2918	2918	Missing in isoform GSRP-56. 1 Publication Manual assertion based on opinion inⁱ Ref.7 "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM GSRP-56).	VSP_057477	Add BLAST
Alternative sequenceⁱ	103 – 103	1	K → KSMHRGSP in isoform 4. 1 Publication Manual assertion based on opinion inⁱ Ref.5 "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.	VSP_007134
Alternative sequenceⁱ	297 – 313	17	Missing in isoform 10. 1 Publication Manual assertion based on opinion inⁱ Ref.4 "Loss of Drop1 expression already at early tumor stages in a wide range of human carcinomas." Marme A., Zimmermann H.P., Moldenhauer G., Schorpp-Kistner M., Muller C., Keberlein O., Giersch A., Kretschmer J., Seib B., Spiess E., Hunziker A., Merchan F., Moller P., Hahn U., Kurek R., Marme F., Bastert G., Wallwiener D., Ponstingl H. Int. J. Cancer 123:2048-2056(2008) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 10).	VSP_057478	Add BLAST
Alternative sequenceⁱ	1437 – 1443	7	DIKTMEM → EYVIDKS in isoform 5. 1 Publication Manual assertion based on opinion inⁱ Ref.11 "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).	VSP_007135
Alternative sequenceⁱ	1444 – 8797	7354	Missing in isoform 5. 1 Publication Manual assertion based on opinion inⁱ Ref.11 "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).	VSP_007136	Add BLAST
Alternative sequenceⁱ	1702 – 1725	24	LQNEV…ESLFS → SSRKCEEGKNKMLFVTVTLF KIIK in isoform 6. 1 Publication Manual assertion based on opinion inⁱ Ref.12 "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 743-8797 (ISOFORM 6).	VSP_007137	Add BLAST
Alternative sequenceⁱ	1726 – 8797	7072	Missing in isoform 6. 1 Publication Manual assertion based on opinion inⁱ Ref.12 "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 743-8797 (ISOFORM 6).	VSP_007138	Add BLAST
Alternative sequenceⁱ	3049 – 3049	1	C → W in isoform 10. 1 Publication Manual assertion based on opinion inⁱ Ref.4 "Loss of Drop1 expression already at early tumor stages in a wide range of human carcinomas." Marme A., Zimmermann H.P., Moldenhauer G., Schorpp-Kistner M., Muller C., Keberlein O., Giersch A., Kretschmer J., Seib B., Spiess E., Hunziker A., Merchan F., Moller P., Hahn U., Kurek R., Marme F., Bastert G., Wallwiener D., Ponstingl H. Int. J. Cancer 123:2048-2056(2008) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 10).	VSP_057479
Alternative sequenceⁱ	3050 – 8797	5748	Missing in isoform 10. 1 Publication Manual assertion based on opinion inⁱ Ref.4 "Loss of Drop1 expression already at early tumor stages in a wide range of human carcinomas." Marme A., Zimmermann H.P., Moldenhauer G., Schorpp-Kistner M., Muller C., Keberlein O., Giersch A., Kretschmer J., Seib B., Spiess E., Hunziker A., Merchan F., Moller P., Hahn U., Kurek R., Marme F., Bastert G., Wallwiener D., Ponstingl H. Int. J. Cancer 123:2048-2056(2008) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 10).	VSP_057480	Add BLAST
Alternative sequenceⁱ	3325 – 3394	70	ALLSV…KWTSY → VCIFTQKYLQPTEFVFLKIS RLHPPGVMMSHSLHDKSQML CECNAVCLGCTCQRIPESSD PGCFPKNKIK in isoform GSRP-56. 1 Publication Manual assertion based on opinion inⁱ Ref.7 "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM GSRP-56).	VSP_057481	Add BLAST
Alternative sequenceⁱ	3395 – 8797	5403	Missing in isoform GSRP-56. 1 Publication Manual assertion based on opinion inⁱ Ref.7 "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM GSRP-56).	VSP_057482	Add BLAST
Alternative sequenceⁱ	3620 – 3641	22	Missing in isoform 4. 1 Publication Manual assertion based on opinion inⁱ Ref.5 "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.	VSP_007139	Add BLAST
Alternative sequenceⁱ	3912 – 3967	56	Missing in isoform 4. 1 Publication Manual assertion based on opinion inⁱ Ref.5 "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.	VSP_007140	Add BLAST
Alternative sequenceⁱ	5571 – 5580	10	TLLEESKEID → VTLGKIIFKK in isoform 7. 1 Publication Manual assertion based on opinion inⁱ Ref.13 "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.	VSP_007141
Alternative sequenceⁱ	5581 – 8797	3217	Missing in isoform 7. 1 Publication Manual assertion based on opinion inⁱ Ref.13 "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.	VSP_007142	Add BLAST
Alternative sequenceⁱ	7844 – 7874	31	AKASH…LDLIA → MVVAEDLSALRMAEDGCVDA DLPDCNCDVTR in isoform 9. 1 Publication Manual assertion based on opinion inⁱ Ref.6 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.	VSP_007143	Add BLAST
Alternative sequenceⁱ	8325 – 8325	1	S → SDVMIPESPEAYVKLTENAI KNTS in isoform 3, isoform 4 and isoform 9. 3 Publications Manual assertion based on opinion inⁱ Ref.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. Ref.5 "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. Ref.6 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.	VSP_007144

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY061755 mRNA. Translation: AAL33798.1. AY061756 mRNA. Translation: AAL33799.1. AY184203 mRNA. Translation: AAO27771.1. AY184206 mRNA. Translation: AAO27774.1. AF535142 mRNA. Translation: AAN03486.1. AF444779 mRNA. Translation: AAL38031.1. FM162565 mRNA. Translation: CAQ57272.1. AF495910 mRNA. Translation: AAN60442.1. AL049548 Genomic DNA. No translation available. AL136079 Genomic DNA. No translation available. AL589963 Genomic DNA. No translation available. AL591507 Genomic DNA. No translation available. AL450401, AL078582, AL138832 Genomic DNA. Translation: CAI40728.1. AL450401 , AL078582, AL138832, AL357081 Genomic DNA. Translation: CAI40729.1. AL357081 , AL078582, AL138832, AL450401 Genomic DNA. Translation: CAI41322.1. AL078582, AL138832, AL450401 Genomic DNA. Translation: CAI42283.1. AL078582 , AL138832, AL357081, AL450401 Genomic DNA. Translation: CAI42284.1. AL138832, AL078582, AL450401 Genomic DNA. Translation: CAI42785.1. AL138832 , AL078582, AL357081, AL450401 Genomic DNA. Translation: CAI42786.1. KF458330 Genomic DNA. No translation available. BC039121 mRNA. Translation: AAH39121.1. Different initiation. AY135172 mRNA. Translation: AAM95335.1. Sequence problems. AY183142 mRNA. Translation: AAO23669.1. AK056122 mRNA. Translation: BAB71097.1. Sequence problems. AK094094 mRNA. Translation: BAC04284.1. Different initiation. AB051543 mRNA. Translation: BAB21847.1. AL713682 mRNA. Translation: CAD28486.2. Different initiation. AB033088 mRNA. Translation: BAA86576.1. AB018339 mRNA. Translation: BAA34516.2. AF043290 mRNA. Translation: AAC02992.2. Different initiation.
CCDSⁱ	CCDS5235.1. [Q8NF91-4] CCDS5236.2. [Q8NF91-1]
RefSeqⁱ	NP_149062.1. NM_033071.3. NP_892006.3. NM_182961.3. [Q8NF91-1]
UniGeneⁱ	Hs.12967.

Genome annotation databases

Ensemblⁱ	ENST00000367253; ENSP00000356222; ENSG00000131018. [Q8NF91-6] ENST00000367255; ENSP00000356224; ENSG00000131018. [Q8NF91-1] ENST00000413186; ENSP00000414510; ENSG00000131018. [Q8NF91-5]
GeneIDⁱ	23345.
KEGGⁱ	hsa:23345.
UCSCⁱ	uc003qot.5. human. [Q8NF91-1] uc003qov.4. human.

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Cross-referencesⁱ

Web resourcesⁱ

Wikipedia

Enaptin entry

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY061755 mRNA. Translation: AAL33798.1. AY061756 mRNA. Translation: AAL33799.1. AY184203 mRNA. Translation: AAO27771.1. AY184206 mRNA. Translation: AAO27774.1. AF535142 mRNA. Translation: AAN03486.1. AF444779 mRNA. Translation: AAL38031.1. FM162565 mRNA. Translation: CAQ57272.1. AF495910 mRNA. Translation: AAN60442.1. AL049548 Genomic DNA. No translation available. AL136079 Genomic DNA. No translation available. AL589963 Genomic DNA. No translation available. AL591507 Genomic DNA. No translation available. AL450401, AL078582, AL138832 Genomic DNA. Translation: CAI40728.1. AL450401 , AL078582, AL138832, AL357081 Genomic DNA. Translation: CAI40729.1. AL357081 , AL078582, AL138832, AL450401 Genomic DNA. Translation: CAI41322.1. AL078582, AL138832, AL450401 Genomic DNA. Translation: CAI42283.1. AL078582 , AL138832, AL357081, AL450401 Genomic DNA. Translation: CAI42284.1. AL138832, AL078582, AL450401 Genomic DNA. Translation: CAI42785.1. AL138832 , AL078582, AL357081, AL450401 Genomic DNA. Translation: CAI42786.1. KF458330 Genomic DNA. No translation available. BC039121 mRNA. Translation: AAH39121.1. Different initiation. AY135172 mRNA. Translation: AAM95335.1. Sequence problems. AY183142 mRNA. Translation: AAO23669.1. AK056122 mRNA. Translation: BAB71097.1. Sequence problems. AK094094 mRNA. Translation: BAC04284.1. Different initiation. AB051543 mRNA. Translation: BAB21847.1. AL713682 mRNA. Translation: CAD28486.2. Different initiation. AB033088 mRNA. Translation: BAA86576.1. AB018339 mRNA. Translation: BAA34516.2. AF043290 mRNA. Translation: AAC02992.2. Different initiation.
CCDSⁱ	CCDS5235.1. [Q8NF91-4] CCDS5236.2. [Q8NF91-1]
RefSeqⁱ	NP_149062.1. NM_033071.3. NP_892006.3. NM_182961.3. [Q8NF91-1]
UniGeneⁱ	Hs.12967.

3D structure databases

Select the link destinations:
PDBeⁱ
RCSB PDBⁱ
PDBjⁱ

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. 34 interactions.
IntActⁱ	Q8NF91. 20 interactions.
MINTⁱ	MINT-6489007.
STRINGⁱ	9606.ENSP00000356224.

PTM databases

iPTMnetⁱ	Q8NF91.
PhosphoSiteⁱ	Q8NF91.

Polymorphism and mutation databases

BioMutaⁱ	SYNE1.
DMDMⁱ	425906075.

Proteomic databases

EPDⁱ	Q8NF91.
MaxQBⁱ	Q8NF91.
PaxDbⁱ	Q8NF91.
PeptideAtlasⁱ	Q8NF91.
PRIDEⁱ	Q8NF91.

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000367253; ENSP00000356222; ENSG00000131018. [Q8NF91-6] ENST00000367255; ENSP00000356224; ENSG00000131018. [Q8NF91-1] ENST00000413186; ENSP00000414510; ENSG00000131018. [Q8NF91-5]
GeneIDⁱ	23345.
KEGGⁱ	hsa:23345.
UCSCⁱ	uc003qot.5. human. [Q8NF91-1] uc003qov.4. human.

Organism-specific databases

CTDⁱ	23345.
GeneCardsⁱ	SYNE1.
GeneReviewsⁱ	SYNE1.
HGNCⁱ	HGNC:17089. SYNE1.
HPAⁱ	HPA019113.
MalaCardsⁱ	SYNE1.
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	KOG0516. Eukaryota. COG5069. LUCA.
GeneTreeⁱ	ENSGT00760000118813.
HOVERGENⁱ	HBG066187.
InParanoidⁱ	Q8NF91.
KOⁱ	K19326.
OMAⁱ	QVRCAEG.
OrthoDBⁱ	EOG091G0007.
TreeFamⁱ	TF329280.

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1221632. Meiotic synapsis.

Reactomeⁱ

R-HSA-1221632. Meiotic synapsis.

Miscellaneous databases

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

Gene expression databases

Bgeeⁱ	ENSG00000131018.
ExpressionAtlasⁱ	Q8NF91. baseline and differential.
Genevisibleⁱ	Q8NF91. HS.

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. IPR030265. SYNE1. [Graphical view]
PANTHERⁱ	PTHR11915:SF267. PTHR11915:SF267. 10 hits.
Pfamⁱ	PF00307. CH. 2 hits. PF10541. KASH. 1 hit. PF00435. Spectrin. 10 hits. [Graphical view]
SMARTⁱ	SM00033. CH. 2 hits. SM01249. KASH. 1 hit. 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...

Entry informationⁱ

Entry nameⁱ

SYNE1_HUMAN

Accessionⁱ

Primary (citable) accession number: Q8NF91
Secondary accession number(s): B3W695

Q9ULF8

Entry historyⁱ

Integrated into UniProtKB/Swiss-Prot:	April 11, 2003
Last sequence update:	November 28, 2012
Last modified:	September 7, 2016
This is version 159 of the entry and version 4 of the sequence. [Complete history]

Entry statusⁱ

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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

Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q8NF91 (SYNE1_HUMAN)

UniProt

Q8NF91 - SYNE1_HUMAN

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Nesprin-1

Select a section on the left to see content.

<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>Provides information on the disease(s) and phenotype(s) associated with a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Organism-specific databases

Polymorphism and mutation databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Protein-protein interaction databases

<p>Provides information on the tertiary and secondary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Coiled coil

Compositional bias

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequences (12)i

<p>Reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.</p><p><a href='../manual/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>Provides links to various web resources that are relevant for a specific protein.</p><p><a href='../manual/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequences (12)ⁱ

Sequence cautionⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ