ENSG00000134243


Homo sapiens

Features
Gene ID: ENSG00000134243
  
Biological name :SORT1
  
Synonyms : Q99523 / SORT1 / sortilin 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p13.3
Gene start: 109309568
Gene end: 109397951
  
Corresponding Affymetrix probe sets: 212797_at (Human Genome U133 Plus 2.0 Array)   212807_s_at (Human Genome U133 Plus 2.0 Array)   224818_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000488262
Ensembl peptide - ENSP00000256637
Ensembl peptide - ENSP00000488662
Ensembl peptide - ENSP00000438597
Ensembl peptide - ENSP00000487712
Ensembl peptide - ENSP00000487674
NCBI entrez gene - 6272     See in Manteia.
OMIM - 602458
RefSeq - XM_005271100
RefSeq - XM_006710812
RefSeq - XM_005271102
RefSeq - XM_005271101
RefSeq - NM_001205228
RefSeq - NM_002959
RefSeq Peptide - NP_001192157
RefSeq Peptide - NP_002950
swissprot - Q99523
swissprot - A0A0J9YY30
swissprot - A0A0J9YVU2
swissprot - A0A0J9YVX1
swissprot - A0A0J9YX61
Ensembl - ENSG00000134243
  
Related genetic diseases (OMIM): 613589 - [Low density lipoprotein cholesterol level QTL6], 613589
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
 sort1aENSDARG00000029402Danio rerio
 sort1bENSDARG00000056252Danio rerio
 SORT1ENSGALG00000033572Gallus gallus
 Sort1ENSMUSG00000068747Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SORL1 / Q92673 / sortilin related receptor 1ENSG0000013764226
Q96PQ0 / SORCS2 / sortilin related VPS10 domain containing receptor 2ENSG0000018498524
Q8WY21 / SORCS1 / sortilin related VPS10 domain containing receptor 1ENSG0000010801823
Q9UPU3 / SORCS3 / sortilin related VPS10 domain containing receptor 3ENSG0000015639522


Protein motifs (from Interpro)
Interpro ID Name
 IPR002860  BNR repeat
 IPR006581  VPS10
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR031777  Sortilin, C-terminal
 IPR031778  Sortilin, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001503 ossification IEA
 biological_processGO:0006895 Golgi to endosome transport IDA
 biological_processGO:0006897 endocytosis IDA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IMP
 biological_processGO:0007218 neuropeptide signaling pathway IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008333 endosome to lysosome transport IDA
 biological_processGO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IDA
 biological_processGO:0010468 regulation of gene expression IMP
 biological_processGO:0014902 myotube differentiation IMP
 biological_processGO:0016050 vesicle organization IDA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0032509 endosome transport via multivesicular body sorting pathway IDA
 biological_processGO:0032868 response to insulin IMP
 biological_processGO:0038180 nerve growth factor signaling pathway IEA
 biological_processGO:0045599 negative regulation of fat cell differentiation IEA
 biological_processGO:0046323 glucose import IMP
 biological_processGO:0048011 neurotrophin TRK receptor signaling pathway IMP
 biological_processGO:0048227 plasma membrane to endosome transport IDA
 biological_processGO:0051005 negative regulation of lipoprotein lipase activity IDA
 biological_processGO:1904037 positive regulation of epithelial cell apoptotic process IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane NAS
 cellular_componentGO:0005905 clathrin-coated pit IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IDA
 cellular_componentGO:0030136 clathrin-coated vesicle IDA
 cellular_componentGO:0030140 trans-Golgi network transport vesicle IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0032580 Golgi cisterna membrane IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0010465 nerve growth factor receptor activity IDA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0030379 neurotensin receptor activity, non-G-protein coupled IDA
 molecular_functionGO:0048406 nerve growth factor binding IPI


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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