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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.
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
1
Cytoband
q22
Chromosome location (bp)
156082573 - 156140081
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
[Lamin-A/C]: Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19. Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics 20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35. Lamin A and C also regulate matrix stiffness by conferring nuclear mechanical properties 36,37. The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively 38,39. Lamin A and C are present in equal amounts in the lamina of mammals 40,41,42,43,44,45,46,47,48,49,50,51,52. Also invoved in DNA repair: recruited by DNA repair proteins XRCC4 and IFFO1 to the DNA double-strand breaks (DSBs) to prevent chromosome translocation by immobilizing broken DNA ends 53. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation 54,55,56,57,58. Required for osteoblastogenesis and bone formation 59,60,61. Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone 62. Required for cardiac homeostasis 63,64,65,66....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations 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 COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations 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 Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0005200[structural constituent of cytoskeleton] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005652[nuclear lamina] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005882[intermediate filament] GO:0006998[nuclear envelope organization] GO:0007097[nuclear migration] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016607[nuclear speck] GO:0030334[regulation of cell migration] GO:0030951[establishment or maintenance of microtubule cytoskeleton polarity] GO:0031507[heterochromatin formation] GO:0031965[nuclear membrane] GO:0034504[protein localization to nucleus] GO:0035861[site of double-strand break] GO:0051664[nuclear pore localization] GO:0071456[cellular response to hypoxia] GO:0090398[cellular senescence] GO:0090435[protein localization to nuclear envelope] GO:1903243[negative regulation of cardiac muscle hypertrophy in response to stress] GO:1990683[DNA double-strand break attachment to nuclear envelope]
A0A384MQX1 [Target identity:100%; Query identity:100%] Epididymis secretory sperm binding protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations 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)
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GO:0005198[structural molecule activity] GO:0005200[structural constituent of cytoskeleton] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005638[lamin filament] GO:0005652[nuclear lamina] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005882[intermediate filament] GO:0006606[protein import into nucleus] GO:0006997[nucleus organization] GO:0006998[nuclear envelope organization] GO:0007097[nuclear migration] GO:0007517[muscle organ development] GO:0008104[protein localization] GO:0008285[negative regulation of cell population proliferation] GO:0010628[positive regulation of gene expression] GO:0016363[nuclear matrix] GO:0016607[nuclear speck] GO:0030334[regulation of cell migration] GO:0030951[establishment or maintenance of microtubule cytoskeleton polarity] GO:0031507[heterochromatin formation] GO:0031647[regulation of protein stability] GO:0031965[nuclear membrane] GO:0032204[regulation of telomere maintenance] GO:0034504[protein localization to nucleus] GO:0035861[site of double-strand break] GO:0048471[perinuclear region of cytoplasm] GO:0051664[nuclear pore localization] GO:0055015[ventricular cardiac muscle cell development] GO:0071456[cellular response to hypoxia] GO:0072201[negative regulation of mesenchymal cell proliferation] GO:0090201[negative regulation of release of cytochrome c from mitochondria] GO:0090398[cellular senescence] GO:0090435[protein localization to nuclear envelope] GO:1900114[positive regulation of histone H3-K9 trimethylation] GO:1900180[regulation of protein localization to nucleus] GO:1903243[negative regulation of cardiac muscle hypertrophy in response to stress] GO:1990683[DNA double-strand break attachment to nuclear envelope] GO:2001237[negative regulation of extrinsic apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0005198[structural molecule activity] GO:0005200[structural constituent of cytoskeleton] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005638[lamin filament] GO:0005652[nuclear lamina] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005882[intermediate filament] GO:0006998[nuclear envelope organization] GO:0007097[nuclear migration] GO:0007517[muscle organ development] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016607[nuclear speck] GO:0030334[regulation of cell migration] GO:0030951[establishment or maintenance of microtubule cytoskeleton polarity] GO:0031507[heterochromatin formation] GO:0031965[nuclear membrane] GO:0032204[regulation of telomere maintenance] GO:0034504[protein localization to nucleus] GO:0035861[site of double-strand break] GO:0042802[identical protein binding] GO:0048471[perinuclear region of cytoplasm] GO:0051664[nuclear pore localization] GO:0071456[cellular response to hypoxia] GO:0090398[cellular senescence] GO:0090435[protein localization to nuclear envelope] GO:1903243[negative regulation of cardiac muscle hypertrophy in response to stress] GO:1990683[DNA double-strand break attachment to nuclear envelope]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0005200[structural constituent of cytoskeleton] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005652[nuclear lamina] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005882[intermediate filament] GO:0006998[nuclear envelope organization] GO:0007097[nuclear migration] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016607[nuclear speck] GO:0030334[regulation of cell migration] GO:0030951[establishment or maintenance of microtubule cytoskeleton polarity] GO:0031507[heterochromatin formation] GO:0031965[nuclear membrane] GO:0034504[protein localization to nucleus] GO:0035861[site of double-strand break] GO:0051664[nuclear pore localization] GO:0071456[cellular response to hypoxia] GO:0090398[cellular senescence] GO:0090435[protein localization to nuclear envelope] GO:1903243[negative regulation of cardiac muscle hypertrophy in response to stress] GO:1990683[DNA double-strand break attachment to nuclear envelope]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005200[structural constituent of cytoskeleton] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005652[nuclear lamina] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005882[intermediate filament] GO:0006998[nuclear envelope organization] GO:0007097[nuclear migration] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016607[nuclear speck] GO:0030334[regulation of cell migration] GO:0030951[establishment or maintenance of microtubule cytoskeleton polarity] GO:0031507[heterochromatin formation] GO:0031965[nuclear membrane] GO:0034504[protein localization to nucleus] GO:0035861[site of double-strand break] GO:0051664[nuclear pore localization] GO:0071456[cellular response to hypoxia] GO:0090398[cellular senescence] GO:0090435[protein localization to nuclear envelope] GO:1903243[negative regulation of cardiac muscle hypertrophy in response to stress] GO:1990683[DNA double-strand break attachment to nuclear envelope]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations 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 COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
A0A384MQX1 [Target identity:100%; Query identity:100%] Epididymis secretory sperm binding protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations 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 Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005200[structural constituent of cytoskeleton] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005652[nuclear lamina] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005882[intermediate filament] GO:0006998[nuclear envelope organization] GO:0007097[nuclear migration] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016607[nuclear speck] GO:0030334[regulation of cell migration] GO:0030951[establishment or maintenance of microtubule cytoskeleton polarity] GO:0031507[heterochromatin formation] GO:0031965[nuclear membrane] GO:0034504[protein localization to nucleus] GO:0035861[site of double-strand break] GO:0051664[nuclear pore localization] GO:0071456[cellular response to hypoxia] GO:0090398[cellular senescence] GO:0090435[protein localization to nuclear envelope] GO:1903243[negative regulation of cardiac muscle hypertrophy in response to stress] GO:1990683[DNA double-strand break attachment to nuclear envelope]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations 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)
Show all
GO:0005198[structural molecule activity] GO:0005200[structural constituent of cytoskeleton] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005638[lamin filament] GO:0005652[nuclear lamina] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005882[intermediate filament] GO:0006998[nuclear envelope organization] GO:0007097[nuclear migration] GO:0007517[muscle organ development] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016607[nuclear speck] GO:0030334[regulation of cell migration] GO:0030951[establishment or maintenance of microtubule cytoskeleton polarity] GO:0031507[heterochromatin formation] GO:0031965[nuclear membrane] GO:0032204[regulation of telomere maintenance] GO:0034504[protein localization to nucleus] GO:0035861[site of double-strand break] GO:0042802[identical protein binding] GO:0048471[perinuclear region of cytoplasm] GO:0051664[nuclear pore localization] GO:0071456[cellular response to hypoxia] GO:0090398[cellular senescence] GO:0090435[protein localization to nuclear envelope] GO:1903243[negative regulation of cardiac muscle hypertrophy in response to stress] GO:1990683[DNA double-strand break attachment to nuclear envelope]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations 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)
Show all
GO:0005200[structural constituent of cytoskeleton] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005652[nuclear lamina] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0005882[intermediate filament] GO:0006998[nuclear envelope organization] GO:0007097[nuclear migration] GO:0008285[negative regulation of cell population proliferation] GO:0016363[nuclear matrix] GO:0016607[nuclear speck] GO:0030334[regulation of cell migration] GO:0030951[establishment or maintenance of microtubule cytoskeleton polarity] GO:0031507[heterochromatin formation] GO:0031965[nuclear membrane] GO:0034504[protein localization to nucleus] GO:0035861[site of double-strand break] GO:0051664[nuclear pore localization] GO:0071456[cellular response to hypoxia] GO:0090398[cellular senescence] GO:0090435[protein localization to nuclear envelope] GO:1903243[negative regulation of cardiac muscle hypertrophy in response to stress] GO:1990683[DNA double-strand break attachment to nuclear envelope]
A0A384MQX1 [Target identity:100%; Query identity:100%] Epididymis secretory sperm binding protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
