Q8NF91 (SYNE1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 124.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 8797 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. Ref.1 Ref.18 |
| Subunit structure | Dimer. Component of LINC complexes composed of SUN domain-containing proteins SUN1 or SUN2 coupled to KASH domain-containing proteins (SYNE1, SYNE2 or SYNE3) also called nesprins. May interact with MUSK By similarity. Interacts with F-actin via its N-terminal domain By similarity. Interacts with EMD and LMNA in vitro. Interacts with SYNE3. Ref.15 Ref.18 Ref.21 |
| Subcellular location | Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side Potential. 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. Ref.1 Ref.2 Ref.13 |
| Tissue specificity | 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. Ref.1 Ref.3 Ref.13 Ref.21 |
| Domain | 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. Ref.18 |
| Involvement in disease | Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8) [MIM:610743]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form. Emery-Dreifuss muscular dystrophy 4 (EDMD4) [MIM:612998]: 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. |
| Sequence similarities | Belongs to the nesprin family. Contains 1 actin-binding domain. Contains 2 CH (calponin-homology) domains. Contains 12 HAT repeats. Contains 1 KASH domain. Contains 31 spectrin repeats. |
| Sequence caution | The sequence AAC02992.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAL38031.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAM95335.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin. The sequence BAB71097.1 differs from that shown. Reason: Chimeric cDNA. The sequence BAC04284.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAD28486.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| DISC1 | Q9NRI5 | 6 | EBI-928867,EBI-529989 | |
| SUN1 | O94901 | 2 | EBI-6170938,EBI-2796904 | |
| SUN2 | Q9UH99 | 3 | EBI-928867,EBI-1044964 |
Alternative products
| This entry describes 9 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NF91-1) 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. | ||||||
| Isoform 2 (identifier: Q8NF91-2) Also known as: Beta; The sequence of this isoform differs from the canonical sequence as follows: 1-5476: Missing. | ||||||
| Isoform 3 (identifier: Q8NF91-3) Also known as: Alpha; The sequence of this isoform differs from the canonical sequence as follows: 1-7838: Missing. 8325-8325: S → SDVMIPESPEAYVKLTENAIKNTS | ||||||
| Isoform 4 (identifier: Q8NF91-4) 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 | ||||||
| Isoform 5 (identifier: Q8NF91-5) The sequence of this isoform differs from the canonical sequence as follows: 1437-1443: DIKTMEM → EYVIDKS 1444-8797: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q8NF91-6) The sequence of this isoform differs from the canonical sequence as follows: 1702-1725: LQNEVVSQASFYSKLLQLKESLFS → SSRKCEEGKNKMLFVTVTLFKIIK 1726-8797: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 7 (identifier: Q8NF91-7) The sequence of this isoform differs from the canonical sequence as follows: 5571-5580: TLLEESKEID → VTLGKIIFKK 5581-8797: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 8 (identifier: Q8NF91-8) Also known as: Beta 2; The sequence of this isoform differs from the canonical sequence as follows: 1-5585: Missing. | ||||||
| Isoform 9 (identifier: Q8NF91-9) 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 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||
Molecule processing | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 8797 | 8797 | Nesprin-1 | PRO_0000163591 | ||||||||||
Regions | ||||||||||||||
| Topological domain | 1 – 8746 | 8746 | Cytoplasmic Potential | |||||||||||
| Transmembrane | 8747 – 8767 | 21 | Helical; Anchor for type IV membrane protein; Potential | |||||||||||
| Topological domain | 8768 – 8797 | 30 | Perinuclear space Potential | |||||||||||
| Domain | 1 – 289 | 289 | Actin-binding | |||||||||||
| Domain | 27 – 134 | 108 | CH 1 | |||||||||||
| Domain | 178 – 283 | 106 | CH 2 | |||||||||||
| Repeat | 592 – 624 | 33 | HAT 1 | |||||||||||
| Repeat | 1103 – 1135 | 33 | HAT 2 | |||||||||||
| Repeat | 1425 – 1457 | 33 | HAT 3 | |||||||||||
| Repeat | 1630 – 1652 | 23 | Spectrin 1 | |||||||||||
| Repeat | 1655 – 1762 | 108 | Spectrin 2 | |||||||||||
| Repeat | 2176 – 2208 | 33 | HAT 4 | |||||||||||
| Repeat | 2339 – 2405 | 67 | Spectrin 3 | |||||||||||
| Repeat | 2406 – 2512 | 107 | Spectrin 4 | |||||||||||
| Repeat | 2515 – 2615 | 101 | Spectrin 5 | |||||||||||
| Repeat | 2705 – 2744 | 40 | HAT 5 | |||||||||||
| Repeat | 3173 – 3277 | 105 | Spectrin 6 | |||||||||||
| Repeat | 3348 – 3386 | 39 | Spectrin 7 | |||||||||||
| Repeat | 3361 – 3400 | 40 | HAT 6 | |||||||||||
| Repeat | 3492 – 3510 | 19 | Spectrin 8 | |||||||||||
| Repeat | 3555 – 3588 | 34 | HAT 7 | |||||||||||
| Repeat | 3816 – 3907 | 92 | Spectrin 9 | |||||||||||
| Repeat | 3967 – 4033 | 67 | Spectrin 10 | |||||||||||
| Repeat | 4146 – 4238 | 93 | Spectrin 11 | |||||||||||
| Repeat | 4261 – 4337 | 77 | Spectrin 12 | |||||||||||
| Repeat | 4486 – 4559 | 74 | Spectrin 13 | |||||||||||
| Repeat | 4750 – 4775 | 26 | Spectrin 14 | |||||||||||
| Repeat | 4993 – 5035 | 43 | Spectrin 15 | |||||||||||
| Repeat | 5101 – 5208 | 108 | Spectrin 16 | |||||||||||
| Repeat | 5569 – 5629 | 61 | Spectrin 17 | |||||||||||
| Repeat | 5632 – 5690 | 59 | Spectrin 18 | |||||||||||
| Repeat | 5738 – 5799 | 62 | Spectrin 19 | |||||||||||
| Repeat | 5963 – 6070 | 108 | Spectrin 20 | |||||||||||
| Repeat | 6774 – 6806 | 33 | HAT 8 | |||||||||||
| Repeat | 6795 – 6904 | 110 | Spectrin 21 | |||||||||||
| Repeat | 7001 – 7033 | 33 | HAT 9 | |||||||||||
| Repeat | 7022 – 7127 | 106 | Spectrin 22 | |||||||||||
| Repeat | 7162 – 7230 | 69 | Spectrin 23 | |||||||||||
| Repeat | 7211 – 7250 | 40 | HAT 10 | |||||||||||
| Repeat | 7352 – 7453 | 102 | Spectrin 24 | |||||||||||
| Repeat | 7456 – 7560 | 105 | Spectrin 25 | |||||||||||
| Repeat | 7542 – 7574 | 33 | HAT 11 | |||||||||||
| Repeat | 7697 – 7777 | 81 | Spectrin 26 | |||||||||||
| Repeat | 7780 – 7882 | 103 | Spectrin 27 | |||||||||||
| Repeat | 7885 – 7996 | 112 | Spectrin 28 | |||||||||||
| Repeat | 7975 – 8007 | 33 | HAT 12 | |||||||||||
| Repeat | 7999 – 8105 | 107 | Spectrin 29 | |||||||||||
| Repeat | 8108 – 8212 | 105 | Spectrin 30 | |||||||||||
| Repeat | 8440 – 8547 | 108 | Spectrin 31 | |||||||||||
| Domain | 8738 – 8797 | 60 | KASH | |||||||||||
| Coiled coil | 327 – 347 | 21 | Potential | |||||||||||
| Coiled coil | 433 – 463 | 31 | Potential | |||||||||||
| Coiled coil | 625 – 650 | 26 | Potential | |||||||||||
| Coiled coil | 817 – 844 | 28 | Potential | |||||||||||
| Coiled coil | 925 – 955 | 31 | Potential | |||||||||||
| Coiled coil | 991 – 1011 | 21 | Potential | |||||||||||
| Coiled coil | 1197 – 1217 | 21 | Potential | |||||||||||
| Coiled coil | 1270 – 1447 | 178 | Potential | |||||||||||
| Coiled coil | 1549 – 1577 | 29 | Potential | |||||||||||
| Coiled coil | 1810 – 1830 | 21 | Potential | |||||||||||
| Coiled coil | 1899 – 1934 | 36 | Potential | |||||||||||
| Coiled coil | 1969 – 2035 | 67 | Potential | |||||||||||
| Coiled coil | 2086 – 2106 | 21 | Potential | |||||||||||
| Coiled coil | 2166 – 2270 | 105 | Potential | |||||||||||
| Coiled coil | 2606 – 2636 | 31 | Potential | |||||||||||
| Coiled coil | 2780 – 2807 | 28 | Potential | |||||||||||
| Coiled coil | 2944 – 2992 | 49 | Potential | |||||||||||
| Coiled coil | 3773 – 3813 | 41 | Potential | |||||||||||
| Coiled coil | 4101 – 4130 | 30 | Potential | |||||||||||
| Coiled coil | 4590 – 4611 | 22 | Potential | |||||||||||
| Coiled coil | 4852 – 4872 | 21 | Potential | |||||||||||
| Coiled coil | 4913 – 4945 | 33 | Potential | |||||||||||
| Coiled coil | 5293 – 5313 | 21 | Potential | |||||||||||
| Coiled coil | 5350 – 5459 | 110 | Potential | |||||||||||
| Coiled coil | 6420 – 6438 | 19 | Potential | |||||||||||
| Coiled coil | 6524 – 6610 | 87 | Potential | |||||||||||
| Coiled coil | 6693 – 6712 | 20 | Potential | |||||||||||
| Coiled coil | 8327 – 8401 | 75 | Potential | |||||||||||
| Coiled coil | 8630 – 8662 | 33 | Potential | |||||||||||
| Compositional bias | 8663 – 8729 | 67 | Ser-rich | |||||||||||
Amino acid modifications | ||||||||||||||
| Modified residue | 8223 | 1 | Phosphoserine Ref.16 | |||||||||||
| Modified residue | 8274 | 1 | Phosphothreonine Ref.16 | |||||||||||
| Modified residue | 8277 | 1 | Phosphoserine Ref.16 | |||||||||||
| Modified residue | 8280 | 1 | Phosphoserine Ref.16 | |||||||||||
| Modified residue | 8305 | 1 | Phosphoserine By similarity | |||||||||||
Natural variations | ||||||||||||||
| Alternative sequence | 1 – 7843 | 7843 | Missing in isoform 9. | VSP_007133 | ||||||||||
| Alternative sequence | 1 – 7838 | 7838 | Missing in isoform 3. | VSP_007132 | ||||||||||
| Alternative sequence | 1 – 5585 | 5585 | Missing in isoform 8. | VSP_007131 | ||||||||||
| Alternative sequence | 1 – 5476 | 5476 | Missing in isoform 2. | VSP_007130 | ||||||||||
| Alternative sequence | 103 | 1 | K → KSMHRGSP in isoform 4. | VSP_007134 | ||||||||||
| Alternative sequence | 1437 – 1443 | 7 | DIKTMEM → EYVIDKS in isoform 5. | VSP_007135 | ||||||||||
| Alternative sequence | 1444 – 8797 | 7354 | Missing in isoform 5. | VSP_007136 | ||||||||||
| Alternative sequence | 1702 – 1725 | 24 | LQNEV…ESLFS → SSRKCEEGKNKMLFVTVTLF KIIK in isoform 6. | VSP_007137 | ||||||||||
| Alternative sequence | 1726 – 8797 | 7072 | Missing in isoform 6. | VSP_007138 | ||||||||||
| Alternative sequence | 3620 – 3641 | 22 | Missing in isoform 4. | VSP_007139 | ||||||||||
| Alternative sequence | 3912 – 3967 | 56 | Missing in isoform 4. | VSP_007140 | ||||||||||
| Alternative sequence | 5571 – 5580 | 10 | TLLEESKEID → VTLGKIIFKK in isoform 7. | VSP_007141 | ||||||||||
| Alternative sequence | 5581 – 8797 | 3217 | Missing in isoform 7. | VSP_007142 | ||||||||||
| Alternative sequence | 7844 – 7874 | 31 | AKASH…LDLIA → MVVAEDLSALRMAEDGCVDA DLPDCNCDVTR in isoform 9. | VSP_007143 | ||||||||||
| Alternative sequence | 8325 | 1 | S → SDVMIPESPEAYVKLTENAI KNTS in isoform 3, isoform 4 and isoform 9. | VSP_007144 | ||||||||||
| Natural variant | 655 | 1 | Q → R. Corresponds to variant rs9397509 [ dbSNP | Ensembl ]. | VAR_056211 | ||||||||||
| Natural variant | 885 | 1 | L → V. Corresponds to variant rs17082709 [ dbSNP | Ensembl ]. | VAR_056212 | ||||||||||
| Natural variant | 1035 | 1 | V → A. Corresponds to variant rs214976 [ dbSNP | Ensembl ]. | VAR_056213 | ||||||||||
| Natural variant | 2030 | 1 | S → G. Corresponds to variant rs35763277 [ dbSNP | Ensembl ]. | VAR_056214 | ||||||||||
| Natural variant | 2795 | 1 | A → V. Corresponds to variant rs214950 [ dbSNP | Ensembl ]. | VAR_056215 | ||||||||||
| Natural variant | 3671 | 1 | V → M in a colorectal cancer sample; somatic mutation. Ref.22 | VAR_036250 | ||||||||||
| Natural variant | 3874 | 1 | K → T. Corresponds to variant rs13210127 [ dbSNP | Ensembl ]. | VAR_056216 | ||||||||||
| Natural variant | 3954 | 1 | S → T. Corresponds to variant rs7775119 [ dbSNP | Ensembl ]. | VAR_056217 | ||||||||||
| Natural variant | 4060 | 1 | E → D. Corresponds to variant rs4645434 [ dbSNP | Ensembl ]. | VAR_056218 | ||||||||||
| Natural variant | 4121 | 1 | K → N. Corresponds to variant rs28385621 [ dbSNP | Ensembl ]. | VAR_056219 | ||||||||||
| Natural variant | 4121 | 1 | K → R. Corresponds to variant rs9479297 [ dbSNP | Ensembl ]. | VAR_056220 | ||||||||||
| Natural variant | 4203 | 1 | E → K. Corresponds to variant rs2130262 [ dbSNP | Ensembl ]. | VAR_056221 | ||||||||||
| Natural variant | 4210 | 1 | E → D in a colorectal cancer sample; somatic mutation. Ref.22 | VAR_036251 | ||||||||||
| Natural variant | 4223 | 1 | R → H in a colorectal cancer sample; somatic mutation. Ref.22 | VAR_036252 | ||||||||||
| Natural variant | 4546 | 1 | V → I. Corresponds to variant rs4870093 [ dbSNP | Ensembl ]. | VAR_056222 | ||||||||||
| Natural variant | 4596 | 1 | S → T. Ref.2 Ref.10 Corresponds to variant rs6911096 [ dbSNP | Ensembl ]. | VAR_056223 | ||||||||||
| Natural variant | 4944 | 1 | L → M. Corresponds to variant rs2306916 [ dbSNP | Ensembl ]. | VAR_056224 | ||||||||||
| Natural variant | 5015 | 1 | L → M. Ref.2 Ref.10 Corresponds to variant rs2306916 [ dbSNP | Ensembl ]. | VAR_056225 | ||||||||||
| Natural variant | 5377 | 1 | M → L. Corresponds to variant rs35987150 [ dbSNP | Ensembl ]. | VAR_056226 | ||||||||||
| Natural variant | 5426 | 1 | T → M. Corresponds to variant rs2306914 [ dbSNP | Ensembl ]. | VAR_056227 | ||||||||||
| Natural variant | 5507 | 1 | L → R in a colorectal cancer sample; somatic mutation. Ref.22 | VAR_036253 | ||||||||||
| Natural variant | 6566 | 1 | M → I. Corresponds to variant rs35654757 [ dbSNP | Ensembl ]. | VAR_056228 | ||||||||||
| Natural variant | 6664 | 1 | T → I. Corresponds to variant rs35079654 [ dbSNP | Ensembl ]. | VAR_056229 | ||||||||||
| Natural variant | 6951 | 1 | Q → H. Corresponds to variant rs3945783 [ dbSNP | Ensembl ]. | VAR_056230 | ||||||||||
| Natural variant | 7302 | 1 | F → V. Ref.1 Ref.2 Ref.4 Ref.11 Corresponds to variant rs2147377 [ dbSNP | Ensembl ]. | VAR_056231 | ||||||||||
| Natural variant | 7506 | 1 | S → G. Corresponds to variant rs35763277 [ dbSNP | Ensembl ]. | VAR_056232 | ||||||||||
| Natural variant | 8095 | 1 | R → H in EDMD4. Ref.23 | VAR_062974 | ||||||||||
| Natural variant | 8161 | 1 | N → H. Corresponds to variant rs36215251 [ dbSNP | Ensembl ]. | VAR_056233 | ||||||||||
| Natural variant | 8168 | 1 | A → S. Corresponds to variant rs17082236 [ dbSNP | Ensembl ]. | VAR_056234 | ||||||||||
| Natural variant | 8323 | 1 | G → A. Ref.1 Ref.2 Ref.4 Ref.11 Ref.13 Corresponds to variant rs2252755 [ dbSNP | Ensembl ]. | VAR_015548 | ||||||||||
| Natural variant | 8387 | 1 | V → L in EDMD4. Ref.23 | VAR_062975 | ||||||||||
| Natural variant | 8461 | 1 | E → K in EDMD4. Ref.23 | VAR_062976 | ||||||||||
| Natural variant | 8468 | 1 | R → H in a colorectal cancer sample; somatic mutation. Ref.22 | VAR_036254 | ||||||||||
| Natural variant | 8687 | 1 | T → I. Corresponds to variant rs35591210 [ dbSNP | Ensembl ]. | VAR_056235 | ||||||||||
| Natural variant | 8741 | 1 | L → M. Corresponds to variant rs2295190 [ dbSNP | Ensembl ]. | VAR_056236 | ||||||||||
Experimental info | ||||||||||||||
| Mutagenesis | 8758 – 8763 | 6 | Missing: Abolishes the nuclear envelope targeting, induces a cytoplasmic localization. Ref.1 | |||||||||||
| Sequence conflict | 98 | 1 | F → L in AAN60442. Ref.2 | |||||||||||
| Sequence conflict | 494 | 1 | S → P in AAM95335. Ref.6 | |||||||||||
| Sequence conflict | 1440 | 1 | T → P in CAD28486. Ref.9 | |||||||||||
| Sequence conflict | 3096 | 1 | N → D in BAB71097. Ref.7 | |||||||||||
| Sequence conflict | 5526 | 1 | A → T in AAL33798. Ref.1 | |||||||||||
| Sequence conflict | 5564 | 1 | E → K in AAL33798. Ref.1 | |||||||||||
| Sequence conflict | 5735 | 1 | E → A in AAN03486. Ref.3 | |||||||||||
| Sequence conflict | 6549 | 1 | K → E in AAL33798. Ref.1 | |||||||||||
| Sequence conflict | 6549 | 1 | K → E in AAN60442. Ref.2 | |||||||||||
| Sequence conflict | 6549 | 1 | K → E in AAO27774. Ref.4 | |||||||||||
| Sequence conflict | 6626 | 1 | L → P in AAL33798. Ref.1 | |||||||||||
| Sequence conflict | 6626 | 1 | L → P in AAN60442. Ref.2 | |||||||||||
| Sequence conflict | 6626 | 1 | L → P in AAO27774. Ref.4 | |||||||||||
| Sequence conflict | 6645 | 1 | E → V in AAL33798. Ref.1 | |||||||||||
| Sequence conflict | 6645 | 1 | E → V in AAN60442. Ref.2 | |||||||||||
| Sequence conflict | 6645 | 1 | E → V in AAO27774. Ref.4 | |||||||||||
| Sequence conflict | 6923 | 1 | I → T in AAL33798. Ref.1 | |||||||||||
| Sequence conflict | 6923 | 1 | I → T in AAN60442. Ref.2 | |||||||||||
| Sequence conflict | 6923 | 1 | I → T in AAO27774. Ref.4 | |||||||||||
| Sequence conflict | 6929 | 1 | V → A in AAL33798. Ref.1 | |||||||||||
| Sequence conflict | 6929 | 1 | V → A in AAN60442. Ref.2 | |||||||||||
| Sequence conflict | 6929 | 1 | V → A in AAO27774. Ref.4 | |||||||||||
| Sequence conflict | 7075 | 1 | E → D in AAL33798. Ref.1 | |||||||||||
| Sequence conflict | 7075 | 1 | E → D in AAN60442. Ref.2 | |||||||||||
| Sequence conflict | 7075 | 1 | E → D in AAO27774. Ref.4 | |||||||||||
| Sequence conflict | 7091 | 1 | N → T in AAL33798. Ref.1 | |||||||||||
| Sequence conflict | 7091 | 1 | N → T in AAN60442. Ref.2 | |||||||||||
| Sequence conflict | 7091 | 1 | N → T in AAO27774. Ref.4 | |||||||||||
Secondary structure | ||||||||||||||
Helix Strand Turn | ||||||||||||||
| Helix | 8780 – 8782 | 3 | ||||||||||||
| Beta strand | 8783 – 8785 | 3 | ||||||||||||
| Beta strand | 8787 – 8793 | 7 | ||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "Golgi localization of Syne-1." Gough L.L., Fan J., Chu S., Winnick S., Beck K.A. Mol. Biol. Cell 14:2410-2424(2003) [PubMed] [Europe PMC] [Abstract] 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. 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] | "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). 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, MASS SPECTROMETRY. 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] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [21] | "Cytoskeletal interactions at the nuclear envelope mediated by nesprins." Taranum S., Sur I., Muller R., Lu W., Rashmi R.N., Munck M., Neumann S., Karakesisoglou I., Noegel A.A. Int. J. Cell Biol. 2012:736524-736524(2012) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, INTERACTION WITH SYNE3. |
| [22] | "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. |
| [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. |
| + | Additional computationally mapped references. |
Web resources
| GeneReviews |
| Wikipedia Enaptin entry |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | 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 AL357081 Genomic DNA. Translation: CAI40729.1.AL357081 AL450401 Genomic DNA. Translation: CAI41322.1.AL078582, AL138832, AL450401 Genomic DNA. Translation: CAI42283.1. AL078582 AL450401 Genomic DNA. Translation: CAI42284.1.AL138832, AL078582, AL450401 Genomic DNA. Translation: CAI42785.1. AL138832 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. | ||||||||||||
| IPI | IPI00170463. IPI00247295. IPI00247296. IPI00247300. IPI00386444. IPI00396977. IPI00647370. IPI00940636. IPI00943590. | ||||||||||||
| RefSeq | NP_149062.1. NM_033071.3. NP_892006.3. NM_182961.3. | ||||||||||||
| UniGene | Hs.12967. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q8NF91. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q8NF91. 13 interactions. | ||||||||||||
| MINT | MINT-6489007. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q8NF91. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 257051067. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q8NF91. | ||||||||||||
| PRIDE | Q8NF91. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000356820; ENSP00000349276; ENSG00000131018. ENST00000367253; ENSP00000356222; ENSG00000131018. ENST00000367255; ENSP00000356224; ENSG00000131018. ENST00000413186; ENSP00000414510; ENSG00000131018. ENST00000423061; ENSP00000396024; ENSG00000131018. | ||||||||||||
| GeneID | 23345. | ||||||||||||
| KEGG | hsa:23345. | ||||||||||||
| UCSC | uc003qos.4. human. uc003qot.4. human. uc003qow.3. human. uc021zhb.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 23345. | ||||||||||||
| GeneCards | GC06M152485. | ||||||||||||
| HGNC | HGNC:17089. SYNE1. | ||||||||||||
| HPA | HPA019113. | ||||||||||||
| MIM | 608441. gene. 610743. phenotype. 612998. phenotype. | ||||||||||||
| neXtProt | NX_Q8NF91. | ||||||||||||
| Orphanet | 1037. Arthrogryposis multiplex congenita. 98853. Autosomal dominant Emery-Dreifuss muscular dystrophy. 88644. Autosomal recessive ataxia, Beauce type. | ||||||||||||
| PharmGKB | PA134975331. | ||||||||||||
| HUGE | Search... Search... Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | COG5069. | ||||||||||||
| HOVERGEN | HBG066187. | ||||||||||||
| OMA | LMEARYS. | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| Reactome | REACT_111183. Meiosis. REACT_115566. Cell Cycle. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q8NF91. | ||||||||||||
| Bgee | Q8NF91. | ||||||||||||
| Genevestigator | Q8NF91. | ||||||||||||
| GermOnline | ENSG00000131018. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 1.10.418.10. 2 hits. | ||||||||||||
| InterPro | IPR001589. Actinin_actin-bd_CS. IPR001715. CH-domain. IPR012315. KASH. IPR018159. Spectrin/alpha-actinin. IPR002017. Spectrin_repeat. [Graphical view] | ||||||||||||
| Pfam | PF00307. CH. 2 hits. PF10541. KASH. 1 hit. PF00435. Spectrin. 10 hits. [Graphical view] | ||||||||||||
| SMART | SM00033. CH. 2 hits. SM00150. SPEC. 45 hits. [Graphical view] | ||||||||||||
| SUPFAM | SSF47576. Calponin-homology. 1 hit. | ||||||||||||
| PROSITE | PS00019. ACTININ_1. 1 hit. PS00020. ACTININ_2. 1 hit. PS50021. CH. 2 hits. PS51049. KASH. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| ChiTaRS | SYNE1. human. | ||||||||||||
| GenomeRNAi | 23345. | ||||||||||||
| NextBio | 45305. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | SYNE1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NF91 Secondary accession number(s): E7EQI5 Q9ULF8 | ||||||||
| Entry history |
| ||||||||
| Entry status | 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. | ||||||||
Relevant 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 |

Clusters with
