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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Spectrin repeat containing nuclear envelope protein 1
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
q25.2
Chromosome location (bp)
152121687 - 152637801
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenesis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Actin-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Differentiation, Spermatogenesis
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
B7Z9Y6 [Target identity:100%; Query identity:100%] cDNA, FLJ79000, highly similar to Nesprin-1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)