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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 Potential drug targets Transporters
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)
46856717 - 46918642
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes. May play an essential role in the process of digit differentiation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]...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.
O75096 [Direct mapping] Low-density lipoprotein receptor-related protein 4
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Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Other nervous and sensory system 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:0001822[kidney development] GO:0001932[regulation of protein phosphorylation] GO:0001942[hair follicle development] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0006897[endocytosis] GO:0008104[protein localization] GO:0009953[dorsal/ventral pattern formation] GO:0009954[proximal/distal pattern formation] GO:0009986[cell surface] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0030154[cell differentiation] GO:0030279[negative regulation of ossification] GO:0030326[embryonic limb morphogenesis] GO:0030425[dendrite] GO:0030971[receptor tyrosine kinase binding] GO:0031594[neuromuscular junction] GO:0034185[apolipoprotein binding] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042733[embryonic digit morphogenesis] GO:0042803[protein homodimerization activity] GO:0043025[neuronal cell body] GO:0043113[receptor clustering] GO:0044853[plasma membrane raft] GO:0048699[generation of neurons] GO:0048813[dendrite morphogenesis] GO:0048856[anatomical structure development] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0050771[negative regulation of axonogenesis] GO:0050808[synapse organization] GO:0051124[synaptic assembly at neuromuscular junction] GO:0060173[limb development] GO:0071340[skeletal muscle acetylcholine-gated channel clustering] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0097060[synaptic membrane] GO:0097104[postsynaptic membrane assembly] GO:0097105[presynaptic membrane assembly] GO:0097110[scaffold protein binding] GO:0150094[amyloid-beta clearance by cellular catabolic process] GO:1901631[positive regulation of presynaptic membrane organization] GO:1904395[positive regulation of skeletal muscle acetylcholine-gated channel clustering]
E9PNJ5 [Direct mapping] Low-density lipoprotein receptor-related protein 4
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Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
