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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 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
7
Cytoband
q22.1
Chromosome location (bp)
103471381 - 103989658
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell adhesion
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Nervous system diseases Epilepsy 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:0000904[cell morphogenesis involved in differentiation] GO:0001764[neuron migration] GO:0001934[positive regulation of protein phosphorylation] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0006508[proteolysis] GO:0007155[cell adhesion] GO:0007411[axon guidance] GO:0007417[central nervous system development] GO:0007420[brain development] GO:0008233[peptidase activity] GO:0008236[serine-type peptidase activity] GO:0010001[glial cell differentiation] GO:0010976[positive regulation of neuron projection development] GO:0016787[hydrolase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0021511[spinal cord patterning] GO:0021766[hippocampus development] GO:0021800[cerebral cortex tangential migration] GO:0030425[dendrite] GO:0032793[positive regulation of CREB transcription factor activity] GO:0038026[reelin-mediated signaling pathway] GO:0043005[neuron projection] GO:0045664[regulation of neuron differentiation] GO:0045860[positive regulation of protein kinase activity] GO:0046872[metal ion binding] GO:0048265[response to pain] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0050795[regulation of behavior] GO:0050804[modulation of chemical synaptic transmission] GO:0051057[positive regulation of small GTPase mediated signal transduction] GO:0051968[positive regulation of synaptic transmission, glutamatergic] GO:0060025[regulation of synaptic activity] GO:0061003[positive regulation of dendritic spine morphogenesis] GO:0061098[positive regulation of protein tyrosine kinase activity] GO:0070325[lipoprotein particle receptor binding] GO:0070326[very-low-density lipoprotein particle receptor binding] GO:0090129[positive regulation of synapse maturation] GO:0110157[reelin complex] GO:1900273[positive regulation of long-term synaptic potentiation] GO:2000310[regulation of NMDA receptor activity] GO:2000463[positive regulation of excitatory postsynaptic potential] GO:2000969[positive regulation of AMPA receptor activity] GO:2001222[regulation of neuron migration]
SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the nervous system Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Nervous system diseases Epilepsy 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:0000904[cell morphogenesis involved in differentiation] GO:0001764[neuron migration] GO:0001934[positive regulation of protein phosphorylation] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0006508[proteolysis] GO:0007155[cell adhesion] GO:0007411[axon guidance] GO:0007417[central nervous system development] GO:0007420[brain development] GO:0007612[learning] GO:0007616[long-term memory] GO:0007626[locomotory behavior] GO:0008233[peptidase activity] GO:0008236[serine-type peptidase activity] GO:0008306[associative learning] GO:0010001[glial cell differentiation] GO:0010468[regulation of gene expression] GO:0010976[positive regulation of neuron projection development] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016358[dendrite development] GO:0016477[cell migration] GO:0016787[hydrolase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0021511[spinal cord patterning] GO:0021517[ventral spinal cord development] GO:0021766[hippocampus development] GO:0021800[cerebral cortex tangential migration] GO:0021819[layer formation in cerebral cortex] GO:0021987[cerebral cortex development] GO:0030425[dendrite] GO:0030900[forebrain development] GO:0031012[extracellular matrix] GO:0032008[positive regulation of TOR signaling] GO:0032793[positive regulation of CREB transcription factor activity] GO:0035418[protein localization to synapse] GO:0038026[reelin-mediated signaling pathway] GO:0043005[neuron projection] GO:0045664[regulation of neuron differentiation] GO:0045860[positive regulation of protein kinase activity] GO:0046872[metal ion binding] GO:0048265[response to pain] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0050795[regulation of behavior] GO:0050804[modulation of chemical synaptic transmission] GO:0051057[positive regulation of small GTPase mediated signal transduction] GO:0051968[positive regulation of synaptic transmission, glutamatergic] GO:0060025[regulation of synaptic activity] GO:0060291[long-term synaptic potentiation] GO:0061003[positive regulation of dendritic spine morphogenesis] GO:0061098[positive regulation of protein tyrosine kinase activity] GO:0070325[lipoprotein particle receptor binding] GO:0070326[very-low-density lipoprotein particle receptor binding] GO:0090129[positive regulation of synapse maturation] GO:0097114[NMDA glutamate receptor clustering] GO:0097119[postsynaptic density protein 95 clustering] GO:0097120[receptor localization to synapse] GO:0097475[motor neuron migration] GO:0097477[lateral motor column neuron migration] GO:0110157[reelin complex] GO:1900273[positive regulation of long-term synaptic potentiation] GO:1902078[positive regulation of lateral motor column neuron migration] GO:1904936[interneuron migration] GO:2000310[regulation of NMDA receptor activity] GO:2000463[positive regulation of excitatory postsynaptic potential] GO:2000969[positive regulation of AMPA receptor activity] GO:2001222[regulation of neuron migration]
The Human Protein Atlas project is funded
