SORL_MOUSE O88307
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UniProt:O88307
Recommended name:Sortilin-related receptor
EC number:
Alternative names:(Gp250) (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) (mSorLA)
Cleaved into:
GeneID:20660
Gene names (primary ):Sorl1
Gene names (synonym ):
Gene names (ORF ):
Length:2215
Mass:247086
Sequence:MATRSSRRESRLPFLFALVALLPRGALGGGWTQRLHGGPAPLPQDRGFFVVQGDPRDLRLGTHGDAPGASPAARKPLRTRRSAALQPQPIQVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFSKISEKLNFGVGNNSEAVISQFYHSPADNKRYIFVDAYAQYLWITFDFCSTIHGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVKSFSWGIDPYDQPNAIYIERHEPFGFSTVLRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVHLPGSQQQSSVQLWVSFGRKPMRAAQFVTKHPINEYYIADAAEDQVFVCVSHSNNSTNLYISEAEGLKFSLSLENVLYYSPGGAGSDTLVRYFANEPFADFHRVEGLQGVYIATLINGSMNEENMRSVITFDKGGTWEFLQAPAFTGYGEKINCELSQGCSLHLAQRLSQLLNLQLRRMPILSKESAPGLIIATGSVGKNLASKTNVYISSSAGARWREALPGPHYYTWGDHGGIIMAIAQGMETNELKYSTNEGETWKTFVFSEKPVFVYGLLTEPGEKSTVFTIFGSNKESVHSWLILQVNATDALGVPCTENDYKLWSPSDERGNECLLGHKTVFKRRTPHATCFNGEDFDRPVVVSNCSCTREDYECDFGFKMSEDLSLEVCVPDPEFSGKPYSPPVPCPVGSSYRRTRGYRKISGDTCSGGDVEARLEGELVPCPLAEENEFILYAMRKSIYRYDLASGATEQLPLSGLRAAVALDFDYERNCLYWSDLALDTIQRLCLNGSTGQEVIINSGLETVEALAFEPLSQLLYWVDAGFKKIEVANPDGDFRLTIVNSSVLDRPRALVLVPQEGVMFWTDWGDLKPGIYRSYMDGSAAYRLVSEDVKWPNGISVDSQWIYWTDAYLDCIERITFSGQQRSVILDSLPHPYAIAVFKNEIYWDDWSQLSIFRASKHSRSQVEILASQLTGLMDMKVFYKGKNAGSNACVPQPCSLLCLPKANNSKSCRCPEGVASSVLPSGDLMCDCPQGYQRKNNTCVKEENTCLRNQYRCSNGNCINSIWWCDFDNDCGDMSDERNCPTTVCDADTQFRCQESGTCIPLSYKCDLEDDCGDNSDESHCEMHQCRSDEFNCSSGMCIRSSWVCDGDNDCRDWSDEANCTAIYHTCEASNFQCHNGHCIPQRWACDGDADCQDGSDEDPVSCEKKCNGFHCPNGTCIPSSKHCDGLRDCPDGSDEQHCEPFCTRFMDFVCKNRQQCLFHSMVCDGIVQCRDGSDEDAAFAGCSQDPEFHKECDEFGFQCQNGVCISLIWKCDGMDDCGDYSDEANCENPTEAPNCSRYFQFHCENGHCIPNRWKCDRENDCGDWSDEKDCGDSHVLPSPTPGPSTCLPNYFHCSSGACVMGTWVCDGYRDCADGSDEEACPSLANSTAASTPTQFGQCDRFEFECHQPKKCIPNWKRCDGHQDCQDGQDEANCPTHSTLTCTSREFKCEDGEACIVLSERCDGFLDCSDESDEKACSDELTVYKVQNLQWTADFSGDVTLTWMRPKKMPSASCVYNVYYRVVGESIWKTLETHSNKTSTVLKVLKPDTTYQVKVQVHCLNKVHNTNDFVTLRTPEGLPDAPRNLQLSLNSEEEGVILGHWAPPVHTHGLIREYIVEYSRSGSKMWASQRAASNSTEIKNLLLNALYTVRVAAVTSRGIGNWSDSKSITTIKGKVIQAPNIHIDSYDENSLSFTLTMDGDIKVNGYVVNLFWSFDAHKQEKKTLSFRGGSALSHRVSNLTAHTSYEISAWAKTDLGDSPLAFEHILTRGSSPPAPSLKAKAINQTAVECIWTGPKNVVYGIFYATSFLDLYRNPKSVTTSLHNKTVIVSKDEQYLFLVRVLIPYQGPSSDYVVVKMIPDSRLPPRHLHAVHIGKTSALIKWESPYDSPDQDLFYAIAVKDLIRKTDRSYKVRSRNSTVEYSLSKLEPGGKYHIIVQLGNMSKDSSIKITTVSLSAPDALKIITENDHVLLFWKSLALKEKQFNETRGYEIHMSDSAVNLTAYLGNTTDNFFKVSNLKMGHNYTFTVQARCLFGSQICGEPAVLLYDELSSGADAAVIQAARSTDVAAVVVPILFLILLSLGVGFAILYTKHRRLQSSFSAFANSHYSSRLGSAIFSSGDDLGEDDEDAPMITGFSDDVPMVIA
Tissue specificity:Highly expressed in the central nervous system, including in the brain and spinal cord, in neurons, as well as in glial cells (at protein level) (PubMed:9726247, PubMed:9510025, PubMed:11082041, PubMed:16174740, PubMed:21385844, PubMed:23333276, PubMed:23977241, PubMed:30679749). In the brain, mainly expressed in the cerebellum, hippocampus, dentate gyrus, hypothalamus, and in the cerebral cortex (at protein level) (PubMed:9726247, PubMed:9510025, PubMed:23333276, PubMed:27322061). Also detected in kidney, heart, lung and spleen (PubMed:9726247, PubMed:9510025). In the kidney, expressed in epithelial cells in the thick ascending limb of Henle's loop, the distal convoluted tubule, the connecting tubule and the cortical collecting duct (at protein level) (PubMed:20385770, PubMed:25967121). Expressed in skeletal muscle (at protein level) (PubMed:9726247, PubMed:9510025, PubMed:27322061). Expressed in adipose tissue, including in brown adipose tissue and subcutaneous white adipose tissue (PubMed:26584636, PubMed:27322061). Expressed in intimal smooth muscle cells (at protein level) (PubMed:14764453). {ECO:0000269|PubMed:11082041, ECO:0000269|PubMed:14764453, ECO:0000269|PubMed:16174740, ECO:0000269|PubMed:20385770, ECO:0000269|PubMed:21385844, ECO:0000269|PubMed:23333276, ECO:0000269|PubMed:23977241, ECO:0000269|PubMed:25967121, ECO:0000269|PubMed:26584636, ECO:0000269|PubMed:27322061, ECO:0000269|PubMed:30679749, ECO:0000269|PubMed:9510025, ECO:0000269|PubMed:9726247}.
Induction:Up-regulated by BDNF in cortical neurons (at protein level) (PubMed:20007471). Up-regulated under hypoxic conditions in hematopoietic stem and progenitor cells, a physiological conditions encountered by these cells in the endosteum (at protein level) (PubMed:23486467). In brown and sucutaneous white adipose tissues, down-regulated when environmental temperature rises from cold to thermoneutrality (PubMed:26584636). Up-regulated in adipose tissue by insulin through a post-transcriptional mechanism (PubMed:27322061). Expression levels increase in the fed state and decline after fasting (PubMed:26584636). {ECO:0000269|PubMed:20007471, ECO:0000269|PubMed:23486467, ECO:0000269|PubMed:26584636, ECO:0000269|PubMed:27322061}.
Developmental stage:Expression starts at 6.5 dpc (PubMed:9726247, PubMed:9510025). At 7.5 dpc, expressed over the entire embryo, with highest levels in the amnion. Up to 8.5 dpc, expression further increases and becomes more restricted to the foregut and the amnion. At 9.5 dpc, expression increases in the somites, as well as the developing gut, and is observed over the facial-cranial mesenchyme and the branchial arches. At 10.5 dpc, expression in the mesenchyme and the somites reaches its maximal intensity. At this stage, highest expression level is observed over the ventral part of the neural tube, in the marginal zone, and extends throughout the hindbrain. Also expressed in motor neurons of the spinal cord. With ongoing development, the brain becomes the main site of expression. At 11.5 dpc, expressed in the telencephalon, being restricted to the lateral aspects of the developing cerebral cortex, with highest levels in the outer layer of the neuronal tissue of the developing cerebral cortex. Also observed in the myelencephalon and in a thin cell layer in the rhombic lip of the metencephalon. At 12.5 dpc, expression begins in the mesencephalon and the diencephalon. Up to 14.5 dpc, expression levels in the developing cerebral cortex become more even and spread to more dorsal and caudal locations. At 14.5 dpc, decreased expression in the metencephalon and the myelencephalon. At 16.5 dpc, expressed over the entire cortical area, although at a slightly lower intensity. Expressed in the hypothalamus. At this stage, expression begins in the peripheral nervous system, including in the trigeminal ganglion, the dorsal root ganglia, the cochlear-vestibular ganglia and the sympathetic ganglia chain, but at lower levels compared to the central nervous system. Expressed over the mitral cell layer of the olfactory bulb and between the 2 outer walls of the gut. The overall expression levels in the cortex decrease until birth. At 18.5 dpc, the outer aspects of the cortical plate shows lower expression levels than the subventricular zone. At 18.5 dpc, expressed in the retina and the geniculate nucleus of the thalamus; this expression increases towards P0. At P0, expression levels are higher in the outer aspects of the cortical plate than in the subventricular zone (PubMed:9510025). 1 week after birth, abundantly expressed in the cerebrum, then levels decrease and become nearly undetectable at 4 weeks. Expression increases again and reaches moderate levels at 12 weeks. In the cerebellum, expressed at high levels during the first 2 weeks. Expression decreases at 4 and 8 weeks, and then increases again at 12 weeks (PubMed:9726247). Expressed in many organs outside the nervous system during organogenesis, such as the primitive gut where expression is detected already at 8.5 dpc. Other SORL1-expressing organs include the genital bud, the mesenchymal tissue, the developing skeletal muscles, the myocardium, the pituitary, the pineal, the thyroid and the Haderian glands, as well as the developing serous glands of the nasal cavity, the salivary and the submandibular glands, the pancreas, the epithelia of the stomach, the tubules of the kidney, the tooth germ, the cochlea, the nasal cavity, the trachea, the lung, the bladder and urethra, the intestine and the rectum (PubMed:9510025). {ECO:0000269|PubMed:9510025, ECO:0000269|PubMed:9726247}.
Protein families:VPS10-related sortilin family, SORL1 subfamily