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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).
Disease related genes Human disease related genes
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
11
Cytoband
p11.2
Chromosome location (bp)
47269161 - 47330031
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Guanyl-nucleotide exchange factor that regulates small GTPases of the Rab family 1,2. Converts GDP-bound inactive form of RAB27A and RAB27B to the GTP-bound active forms 3,4. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms, GTPases involved in synaptic vesicle exocytosis and vesicle secretion (By similarity). Plays a role in synaptic vesicle formation and in vesicle trafficking at the neuromuscular junction (By similarity). Involved in up-regulating a post-docking step of synaptic exocytosis in central synapses (By similarity). Probably by binding to the motor proteins KIF1B and KIF1A, mediates motor-dependent transport of GTP-RAB3A-positive vesicles to the presynaptic nerve terminals (By similarity). Plays a role in TNFA-mediated activation of the MAPK pathway, including ERK1/2 5. May link TNFRSF1A with MAP kinase activation 6. May be involved in the regulation of TNFA-induced apoptosis 7,8....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Guanine-nucleotide releasing factor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis
Gene summary (Entrez)i
Useful information about the gene from Entrez
Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [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.
Q8WXG6 [Direct mapping] MAP kinase-activating death domain protein
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Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system 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:0005085[guanyl-nucleotide exchange factor activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006915[apoptotic process] GO:0007166[cell surface receptor signaling pathway] GO:0016020[membrane] GO:0030295[protein kinase activator activity] GO:0030424[axon] GO:0032483[regulation of Rab protein signal transduction] GO:0042981[regulation of apoptotic process] GO:0042995[cell projection] GO:0043410[positive regulation of MAPK cascade] GO:0051726[regulation of cell cycle] GO:0097194[execution phase of apoptosis] GO:1902041[regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:2001236[regulation of extrinsic apoptotic signaling pathway]
A0A0A0MRB5 [Direct mapping] MAP kinase-activating death domain protein
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Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q8WXG6 [Direct mapping] MAP kinase-activating death domain protein
Show all
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006915[apoptotic process] GO:0007166[cell surface receptor signaling pathway] GO:0016020[membrane] GO:0030295[protein kinase activator activity] GO:0030424[axon] GO:0032483[regulation of Rab protein signal transduction] GO:0042981[regulation of apoptotic process] GO:0042995[cell projection] GO:0043410[positive regulation of MAPK cascade] GO:0051726[regulation of cell cycle] GO:0097194[execution phase of apoptosis] GO:1902041[regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:2001236[regulation of extrinsic apoptotic signaling pathway]
Q8WXG6 [Direct mapping] MAP kinase-activating death domain protein
Show all
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006915[apoptotic process] GO:0007166[cell surface receptor signaling pathway] GO:0016020[membrane] GO:0030295[protein kinase activator activity] GO:0030424[axon] GO:0032483[regulation of Rab protein signal transduction] GO:0042981[regulation of apoptotic process] GO:0042995[cell projection] GO:0043410[positive regulation of MAPK cascade] GO:0051726[regulation of cell cycle] GO:0097194[execution phase of apoptosis] GO:1902041[regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:2001236[regulation of extrinsic apoptotic signaling pathway]
Q8WXG6 [Direct mapping] MAP kinase-activating death domain protein
Show all
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006915[apoptotic process] GO:0007166[cell surface receptor signaling pathway] GO:0016020[membrane] GO:0030295[protein kinase activator activity] GO:0030424[axon] GO:0032483[regulation of Rab protein signal transduction] GO:0042981[regulation of apoptotic process] GO:0042995[cell projection] GO:0043410[positive regulation of MAPK cascade] GO:0051726[regulation of cell cycle] GO:0097194[execution phase of apoptosis] GO:1902041[regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:2001236[regulation of extrinsic apoptotic signaling pathway]
Q8WXG6 [Direct mapping] MAP kinase-activating death domain protein
Show all
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006915[apoptotic process] GO:0007166[cell surface receptor signaling pathway] GO:0016020[membrane] GO:0030295[protein kinase activator activity] GO:0030424[axon] GO:0032483[regulation of Rab protein signal transduction] GO:0042981[regulation of apoptotic process] GO:0042995[cell projection] GO:0043410[positive regulation of MAPK cascade] GO:0051726[regulation of cell cycle] GO:0097194[execution phase of apoptosis] GO:1902041[regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:2001236[regulation of extrinsic apoptotic signaling pathway]
Q8WXG6 [Direct mapping] MAP kinase-activating death domain protein
Show all
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006915[apoptotic process] GO:0007166[cell surface receptor signaling pathway] GO:0016020[membrane] GO:0030295[protein kinase activator activity] GO:0030424[axon] GO:0032483[regulation of Rab protein signal transduction] GO:0042981[regulation of apoptotic process] GO:0042995[cell projection] GO:0043410[positive regulation of MAPK cascade] GO:0051726[regulation of cell cycle] GO:0097194[execution phase of apoptosis] GO:1902041[regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:2001236[regulation of extrinsic apoptotic signaling pathway]
Q8WXG6 [Direct mapping] MAP kinase-activating death domain protein
Show all
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006915[apoptotic process] GO:0007166[cell surface receptor signaling pathway] GO:0016020[membrane] GO:0030295[protein kinase activator activity] GO:0030424[axon] GO:0032483[regulation of Rab protein signal transduction] GO:0042981[regulation of apoptotic process] GO:0042995[cell projection] GO:0043410[positive regulation of MAPK cascade] GO:0051726[regulation of cell cycle] GO:0097194[execution phase of apoptosis] GO:1902041[regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:2001236[regulation of extrinsic apoptotic signaling pathway]
Q8WXG6 [Direct mapping] MAP kinase-activating death domain protein
Show all
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005123[death receptor binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006915[apoptotic process] GO:0007166[cell surface receptor signaling pathway] GO:0016020[membrane] GO:0030295[protein kinase activator activity] GO:0030424[axon] GO:0032483[regulation of Rab protein signal transduction] GO:0042981[regulation of apoptotic process] GO:0042995[cell projection] GO:0043410[positive regulation of MAPK cascade] GO:0051726[regulation of cell cycle] GO:0097194[execution phase of apoptosis] GO:1902041[regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:2001236[regulation of extrinsic apoptotic signaling pathway]
C9JLZ9 [Direct mapping] MAP kinase-activating death domain protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
C9K0L0 [Direct mapping] MAP kinase-activating death domain protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
C9JM97 [Direct mapping] MAP kinase-activating death domain protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
