ENSG00000137642


Homo sapiens

Features
Gene ID: ENSG00000137642
  
Biological name :SORL1
  
Synonyms : Q92673 / SORL1 / sortilin related receptor 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q24.1
Gene start: 121452203
Gene end: 121633693
  
Corresponding Affymetrix probe sets: 203509_at (Human Genome U133 Plus 2.0 Array)   212560_at (Human Genome U133 Plus 2.0 Array)   230707_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000260197
Ensembl peptide - ENSP00000436447
Ensembl peptide - ENSP00000435405
Ensembl peptide - ENSP00000434634
Ensembl peptide - ENSP00000432131
NCBI entrez gene - 6653     See in Manteia.
OMIM - 602005
RefSeq - XM_017018172
RefSeq - XM_011542963
RefSeq - XM_011542965
RefSeq - XM_011542967
RefSeq - XM_017018169
RefSeq - XM_017018170
RefSeq - XM_017018171
RefSeq - NM_003105
RefSeq Peptide - NP_003096
swissprot - E9PPB3
swissprot - E9PP43
swissprot - E9PKB0
swissprot - E9PS32
swissprot - Q92673
Ensembl - ENSG00000137642
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sorl1ENSDARG00000013892Danio rerio
 SORL1ENSGALG00000006598Gallus gallus
 Sorl1ENSMUSG00000049313Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q96PQ0 / SORCS2 / sortilin related VPS10 domain containing receptor 2ENSG0000018498512
Q8WY21 / SORCS1 / sortilin related VPS10 domain containing receptor 1ENSG0000010801812
Q9UPU3 / SORCS3 / sortilin related VPS10 domain containing receptor 3ENSG0000015639512
SORT1 / Q99523 / sortilin 1ENSG0000013424310


Protein motifs (from Interpro)
Interpro ID Name
 IPR000033  LDLR class B repeat
 IPR002172  Low-density lipoprotein (LDL) receptor class A repeat
 IPR003961  Fibronectin type III
 IPR006581  VPS10
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR013783  Immunoglobulin-like fold
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR023415  Low-density lipoprotein (LDL) receptor class A, conserved site
 IPR031777  Sortilin, C-terminal
 IPR031778  Sortilin, N-terminal
 IPR036055  LDL receptor-like superfamily
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006605 protein targeting IDA
 biological_processGO:0006622 protein targeting to lysosome IDA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0006892 post-Golgi vesicle-mediated transport IDA
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0006898 receptor-mediated endocytosis TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0014910 regulation of smooth muscle cell migration IDA
 biological_processGO:0032091 negative regulation of protein binding IDA
 biological_processGO:0032460 negative regulation of protein oligomerization IMP
 biological_processGO:0034067 protein localization to Golgi apparatus IDA
 biological_processGO:0043407 negative regulation of MAP kinase activity IEA
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0045053 protein retention in Golgi apparatus IDA
 biological_processGO:0045732 positive regulation of protein catabolic process IDA
 biological_processGO:0050768 negative regulation of neurogenesis IEA
 biological_processGO:0051604 protein maturation IDA
 biological_processGO:0070863 positive regulation of protein exit from endoplasmic reticulum IMP
 biological_processGO:1901215 negative regulation of neuron death IEA
 biological_processGO:1902430 negative regulation of amyloid-beta formation IEA
 biological_processGO:1902771 positive regulation of choline O-acetyltransferase activity IEA
 biological_processGO:1902948 negative regulation of tau-protein kinase activity IEA
 biological_processGO:1902953 positive regulation of ER to Golgi vesicle-mediated transport IMP
 biological_processGO:1902955 positive regulation of early endosome to recycling endosome transport IMP
 biological_processGO:1902960 negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IMP
 biological_processGO:1902963 negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process IEA
 biological_processGO:1902966 positive regulation of protein localization to early endosome IMP
 biological_processGO:1902997 negative regulation of neurofibrillary tangle assembly IEA
 biological_processGO:2001137 positive regulation of endocytic recycling IMP
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005641 nuclear envelope lumen IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IMP
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005802 trans-Golgi network IDA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0010008 endosome membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031985 Golgi cisterna IDA
 cellular_componentGO:0034362 low-density lipoprotein particle IEA
 cellular_componentGO:0055037 recycling endosome IMP
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0001540 amyloid-beta binding IPI
 molecular_functionGO:0004888 transmembrane signaling receptor activity TAS
 molecular_functionGO:0005041 low-density lipoprotein particle receptor activity TAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030169 low-density lipoprotein particle binding IPI
 molecular_functionGO:0030306 ADP-ribosylation factor binding IPI


Pathways (from Reactome)
Pathway description
Amyloid fiber formation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000504 Abnormality of vision "Abnormality of eyesight (visual perception)." [HPO:curators]
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 HP:0000657 Oculomotor apraxia 
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 HP:0000713 Agitation 
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 HP:0000734 Disinhibition 
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 HP:0000738 Hallucinations 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001276 Hypertonia 
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 HP:0001289 Confusion "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators]
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 HP:0001300 Parkinsonism 
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 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
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 HP:0002120 Cerebral cortical atrophy 
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 HP:0002185 Neurofibrillary tangles 
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 HP:0002354 Memory impairment 
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 HP:0002381 Aphasia 
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 HP:0002463 Language impairment 
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 HP:0003791 Deposits immunoreactive to beta-amyloid protein 
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 HP:0010525 Finger agnosia "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others." [HPO:curators]
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 HP:0010526 Dysgraphia "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators]
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 HP:0012433 Abnormal social behavior "An abnormality of actions or reactions of a person taking place during interactions with others." [HPO:probinson]
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 HP:0030219 Semantic dementia "A progressive loss of the ability to remember the meaning of words, faces and objects." [ICM:PCaroppo, pmid:24966676]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000142192 APP / P05067 / amyloid beta precursor protein  / reaction / complex






 

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