• Gene id: 6653

Gene Summary

• Gene Symbol: SORL1   Gene   UCSC   Ensembl
• Aliases: C11orf32, LR11, LRP9, SORLA, SorLA-1, gp250
• Gene name: sortilin related receptor 1
• Alternate names: sortilin-related receptor, LDLR relative with 11 ligand-binding repeats, low-density lipoprotein receptor relative with 11 ligand-binding repeats, mosaic protein LR11, sortilin-related receptor, L(DLR class) A repeats containing, sorting protein-related recept,
• Gene location: 11q24.1 (121452313: 121633762)     Exons: 48     NC_000011.10
• Gene summary(Entrez): This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type
• OMIM: 602005

Protein Summary

• Protein general information: Q92673  
  • Name: Sortilin related receptor (Low density lipoprotein receptor relative with 11 ligand binding repeats) (LDLR relative with 11 ligand binding repeats) (LR11) (SorLA 1) (Sorting protein related receptor containing LDLR class A repeats) (SorLA)
  • Length: 2214  
  • Mass: 248426
  • Tissue specificity: Highly expressed in brain (at protein level) (PubMed
• Sequence:

  MATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGASRADEK
  PLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISD
  KLNFGLGNRSEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRS
  HPNKQLWKSDDFGQTWIMIQEHVKSFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDF
  QLRDKYMFATKVVHLLGSEQQSSVQLWVSFGRKPMRAAQFVTRHPINEYYIADASEDQVFVCVSHSNNRTNLYIS
  EAEGLKFSLSLENVLYYSPGGAGSDTLVRYFANEPFADFHRVEGLQGVYIATLINGSMNEENMRSVITFDKGGTW
  EFLQAPAFTGYGEKINCELSQGCSLHLAQRLSQLLNLQLRRMPILSKESAPGLIIATGSVGKNLASKTNVYISSS
  AGARWREALPGPHYYTWGDHGGIITAIAQGMETNELKYSTNEGETWKTFIFSEKPVFVYGLLTEPGEKSTVFTIF
  GSNKENVHSWLILQVNATDALGVPCTENDYKLWSPSDERGNECLLGHKTVFKRRTPHATCFNGEDFDRPVVVSNC
  SCTREDYECDFGFKMSEDLSLEVCVPDPEFSGKSYSPPVPCPVGSTYRRTRGYRKISGDTCSGGDVEARLEGELV
  PCPLAEENEFILYAVRKSIYRYDLASGATEQLPLTGLRAAVALDFDYEHNCLYWSDLALDVIQRLCLNGSTGQEV
  IINSGLETVEALAFEPLSQLLYWVDAGFKKIEVANPDGDFRLTIVNSSVLDRPRALVLVPQEGVMFWTDWGDLKP
  GIYRSNMDGSAAYHLVSEDVKWPNGISVDDQWIYWTDAYLECIERITFSGQQRSVILDNLPHPYAIAVFKNEIYW
  DDWSQLSIFRASKYSGSQMEILANQLTGLMDMKIFYKGKNTGSNACVPRPCSLLCLPKANNSRSCRCPEDVSSSV
  LPSGDLMCDCPQGYQLKNNTCVKQENTCLRNQYRCSNGNCINSIWWCDFDNDCGDMSDERNCPTTICDLDTQFRC
  QESGTCIPLSYKCDLEDDCGDNSDESHCEMHQCRSDEYNCSSGMCIRSSWVCDGDNDCRDWSDEANCTAIYHTCE
  ASNFQCRNGHCIPQRWACDGDTDCQDGSDEDPVNCEKKCNGFRCPNGTCIPSSKHCDGLRDCSDGSDEQHCEPLC
  THFMDFVCKNRQQCLFHSMVCDGIIQCRDGSDEDAAFAGCSQDPEFHKVCDEFGFQCQNGVCISLIWKCDGMDDC
  GDYSDEANCENPTEAPNCSRYFQFRCENGHCIPNRWKCDRENDCGDWSDEKDCGDSHILPFSTPGPSTCLPNYYR
  CSSGTCVMDTWVCDGYRDCADGSDEEACPLLANVTAASTPTQLGRCDRFEFECHQPKTCIPNWKRCDGHQDCQDG
  RDEANCPTHSTLTCMSREFQCEDGEACIVLSERCDGFLDCSDESDEKACSDELTVYKVQNLQWTADFSGDVTLTW
  MRPKKMPSASCVYNVYYRVVGESIWKTLETHSNKTNTVLKVLKPDTTYQVKVQVQCLSKAHNTNDFVTLRTPEGL
  PDAPRNLQLSLPREAEGVIVGHWAPPIHTHGLIREYIVEYSRSGSKMWASQRAASNFTEIKNLLVNTLYTVRVAA
  VTSRGIGNWSDSKSITTIKGKVIPPPDIHIDSYGENYLSFTLTMESDIKVNGYVVNLFWAFDTHKQERRTLNFRG
  SILSHKVGNLTAHTSYEISAWAKTDLGDSPLAFEHVMTRGVRPPAPSLKAKAINQTAVECTWTGPRNVVYGIFYA
  TSFLDLYRNPKSLTTSLHNKTVIVSKDEQYLFLVRVVVPYQGPSSDYVVVKMIPDSRLPPRHLHVVHTGKTSVVI
  KWESPYDSPDQDLLYAVAVKDLIRKTDRSYKVKSRNSTVEYTLNKLEPGGKYHIIVQLGNMSKDSSIKITTVSLS
  APDALKIITENDHVLLFWKSLALKEKHFNESRGYEIHMFDSAMNITAYLGNTTDNFFKISNLKMGHNYTFTVQAR
  CLFGNQICGEPAILLYDELGSGADASATQAARSTDVAAVVVPILFLILLSLGVGFAILYTKHRRLQSSFTAFANS
  HYSSRLGSAIFSSGDDLGEDDEDAPMITGFSDDVPMVIA

• Structural information:
  • Protein Domains: (1026..107-)
    (/note="EGF-like-)
    (1076..111-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (1115..115-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (1156-)
  • Interpro: IPR011042  IPR003961  IPR036116  IPR013783  IPR036055   IPR023415  IPR000033  IPR002172  IPR031777  IPR031778  IPR006581  IPR015943  
  • Prosite: PS01186 PS50853 PS01209 PS50068 PS51120
  • CDD: cd00063 cd00112
  • PDB: 2DM4 3G2S 3G2T 3WSX 3WSY 3WSZ
  • PDBsum: 2DM4 3G2S 3G2T 3WSX 3WSY 3WSZ
  • DIP: 41229
  • STRING: ENSP00000260197
• Other Databases: GeneCards:  SORL1  Malacards:  SORL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005041	low-density lipoprotein particle receptor activity	TAS	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0045053	protein retention in Golgi apparatus	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0006892	post-Golgi vesicle-mediated transport	IBA	biological process
GO:0006622	protein targeting to lysosome	IBA	biological process
GO:0006605	protein targeting	IDA	biological process
GO:0038020	insulin receptor recycling	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:1900168	positive regulation of glial cell-derived neurotrophic factor secretion	IDA	biological process
GO:0005771	multivesicular body	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0006605	protein targeting	IDA	biological process
GO:0014910	regulation of smooth muscle cell migration	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0046628	positive regulation of insulin receptor signaling pathway	IDA	biological process
GO:1904179	positive regulation of adipose tissue development	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0010897	negative regulation of triglyceride catabolic process	ISS	biological process
GO:1990845	adaptive thermogenesis	ISS	biological process
GO:0002024	diet induced thermogenesis	ISS	biological process
GO:0006605	protein targeting	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030514	negative regulation of BMP signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002024	diet induced thermogenesis	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0006605	protein targeting	IEA	biological process
GO:0010897	negative regulation of triglyceride catabolic process	IEA	biological process
GO:0038020	insulin receptor recycling	IEA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0097356	perinucleolar compartment	IEA	cellular component
GO:1900168	positive regulation of glial cell-derived neurotrophic factor secretion	IEA	biological process
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:1902948	negative regulation of tau-protein kinase activity	IEA	biological process
GO:1902960	negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IEA	biological process
GO:1902963	negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process	IEA	biological process
GO:1902997	negative regulation of neurofibrillary tangle assembly	IEA	biological process
GO:1990845	adaptive thermogenesis	IEA	biological process
GO:0005641	nuclear envelope lumen	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030514	negative regulation of BMP signaling pathway	IEA	biological process
GO:0043407	negative regulation of MAP kinase activity	IEA	biological process
GO:0045053	protein retention in Golgi apparatus	IEA	biological process
GO:0046628	positive regulation of insulin receptor signaling pathway	IEA	biological process
GO:1902430	negative regulation of amyloid-beta formation	IEA	biological process
GO:1902771	positive regulation of choline O-acetyltransferase activity	IEA	biological process
GO:1904179	positive regulation of adipose tissue development	IEA	biological process
GO:0030169	low-density lipoprotein particle binding	IPI	molecular function
GO:0030169	low-density lipoprotein particle binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0032585	multivesicular body membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030658	transport vesicle membrane	IEA	cellular component
GO:0030306	ADP-ribosylation factor binding	IPI	molecular function
GO:0006605	protein targeting	IDA	biological process
GO:1902960	negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0045732	positive regulation of protein catabolic process	IDA	biological process
GO:0051604	protein maturation	IDA	biological process
GO:0032091	negative regulation of protein binding	IDA	biological process
GO:0034067	protein localization to Golgi apparatus	IDA	biological process
GO:1901215	negative regulation of neuron death	ISS	biological process
GO:2001137	positive regulation of endocytic recycling	IMP	biological process
GO:1902948	negative regulation of tau-protein kinase activity	ISS	biological process
GO:1902960	negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IMP	biological process
GO:1902960	negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	IMP	biological process
GO:1902963	negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process	IMP	biological process
GO:1902963	negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process	IMP	biological process
GO:1902966	positive regulation of protein localization to early endosome	IMP	biological process
GO:1902997	negative regulation of neurofibrillary tangle assembly	ISS	biological process
GO:0055037	recycling endosome	IMP	cellular component
GO:0050768	negative regulation of neurogenesis	ISS	biological process
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0001540	amyloid-beta binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902771	positive regulation of choline O-acetyltransferase activity	ISS	biological process
GO:0043407	negative regulation of MAP kinase activity	ISS	biological process
GO:0005769	early endosome	IMP	cellular component
GO:1902953	positive regulation of ER to Golgi vesicle-mediated transport	IMP	biological process
GO:0006622	protein targeting to lysosome	IDA	biological process
GO:0006892	post-Golgi vesicle-mediated transport	IDA	biological process
GO:0045053	protein retention in Golgi apparatus	IDA	biological process
GO:0005641	nuclear envelope lumen	IDA	cellular component
GO:0005641	nuclear envelope lumen	IDA	cellular component
GO:1902955	positive regulation of early endosome to recycling endosome transport	IMP	biological process
GO:0005769	early endosome	IDA	cellular component
GO:0031985	Golgi cisterna	IDA	cellular component
GO:1902430	negative regulation of amyloid-beta formation	IDA	biological process
GO:1902430	negative regulation of amyloid-beta formation	IDA	biological process
GO:1902430	negative regulation of amyloid-beta formation	IMP	biological process
GO:1902430	negative regulation of amyloid-beta formation	IMP	biological process
GO:1902430	negative regulation of amyloid-beta formation	IMP	biological process
GO:1902430	negative regulation of amyloid-beta formation	IMP	biological process
GO:0070863	positive regulation of protein exit from endoplasmic reticulum	IMP	biological process
GO:0031333	negative regulation of protein-containing complex assembly	IMP	biological process
GO:0006898	receptor-mediated endocytosis	IDA	biological process
GO:0004888	transmembrane signaling receptor activity	IDA	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0007218	neuropeptide signaling pathway	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042923	neuropeptide binding	IPI	molecular function
GO:0042923	neuropeptide binding	IPI	molecular function
GO:0042923	neuropeptide binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Alzheimer's disease	PMID:15313836
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881