SORCS1 (sortilin related VPS10 domain containing receptor 1)

Gene

• Entrez ID: 114815
• Gene name: Sortilin related VPS10 domain containing receptor 1
• Gene symbol: SORCS1
• Synonyms (NCBI Gene): hSorCS
• Chromosome: 10
• Chromosome location: 10q25.1
• Summary: This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many e

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT622145	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT622145	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT1379523	hsa-miR-1253	CLIP-seq
MIRT1379524	hsa-miR-1290	CLIP-seq
MIRT1379525	hsa-miR-1303	CLIP-seq
MIRT1379526	hsa-miR-193a-3p	CLIP-seq
MIRT1379527	hsa-miR-193b	CLIP-seq
MIRT1379528	hsa-miR-194	CLIP-seq
MIRT1379529	hsa-miR-3120-3p	CLIP-seq
MIRT1379530	hsa-miR-3148	CLIP-seq
MIRT1379531	hsa-miR-3173-3p	CLIP-seq
MIRT1379532	hsa-miR-3185	CLIP-seq
MIRT1379533	hsa-miR-361-5p	CLIP-seq
MIRT1379534	hsa-miR-383	CLIP-seq
MIRT1379535	hsa-miR-3919	CLIP-seq
MIRT1379536	hsa-miR-3929	CLIP-seq
MIRT1379537	hsa-miR-3978	CLIP-seq
MIRT1379538	hsa-miR-4257	CLIP-seq
MIRT1379539	hsa-miR-4311	CLIP-seq
MIRT1379540	hsa-miR-4419a	CLIP-seq
MIRT1379541	hsa-miR-4419b	CLIP-seq
MIRT1379542	hsa-miR-4478	CLIP-seq
MIRT1379543	hsa-miR-4510	CLIP-seq
MIRT1379544	hsa-miR-4643	CLIP-seq
MIRT1379545	hsa-miR-4663	CLIP-seq
MIRT1379546	hsa-miR-4691-5p	CLIP-seq
MIRT1379547	hsa-miR-4693-3p	CLIP-seq
MIRT1379548	hsa-miR-4695-5p	CLIP-seq
MIRT1379549	hsa-miR-4756-3p	CLIP-seq
MIRT1379550	hsa-miR-485-5p	CLIP-seq
MIRT1379551	hsa-miR-583	CLIP-seq
MIRT1379552	hsa-miR-892b	CLIP-seq
MIRT1379553	hsa-miR-1468	CLIP-seq
MIRT1379526	hsa-miR-193a-3p	CLIP-seq
MIRT1379527	hsa-miR-193b	CLIP-seq
MIRT1379554	hsa-miR-2052	CLIP-seq
MIRT1379555	hsa-miR-3591-3p	CLIP-seq
MIRT1379556	hsa-miR-4496	CLIP-seq
MIRT1379557	hsa-miR-664	CLIP-seq
MIRT1379552	hsa-miR-892b	CLIP-seq
MIRT2336419	hsa-miR-511	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12482870, 24128306
GO:0005794	Component	Golgi apparatus	IBA
GO:0006892	Process	Post-Golgi vesicle-mediated transport	IBA
GO:0007218	Process	Neuropeptide signaling pathway	NAS	11499680
GO:0008188	Function	Neuropeptide receptor activity	NAS	11499680
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	12482870
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 606283
• HGNC: 16697
• e!Ensembl: ENSG00000108018

Protein

• UniProt ID: Q8WY21
• Protein name: VPS10 domain-containing receptor SorCS1 (hSorCS)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15902	Sortilin-Vps10	205 → 635	Sortilin, neurotensin receptor 3,	Domain
  PF15901	Sortilin_C	637 → 792	Sortilin, neurotensin receptor 3, C-terminal	Domain
  PF00801	PKD	803 → 880	PKD domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in fetal and infant brain and in fetal retina.
• Sequence:

  MGKVGAGGGSQARLSALLAGAGLLILCAPGVCGGGSCCPSPHPSSAPRSASTPRGFSHQG
  RPGRAPATPLPLVVRPLFSVAPGDRALSLERARGTGASMAVAARSGRRRRSGADQEKAER
  GEGASRSPRGVLRDGGQQEPGTRERDPDKATRFRMEELRLTSTTFALTGDSAHNQAMVHW
  SGHNSSVILILTKLYDYNLGSITESSLWRSTDYGTTYEKLNDKVGLKTILSYLYVCPTNK
  RKIMLLTDPEIESSLLISSDEGATYQKYRLNFYIQSLLFHPKQEDWILAYSQDQKLYSSA
  EFGRRWQLIQEGVVPNRFYWSVMGSNKEPDLVHLEARTVDGHSHYLTCRMQNCTEANRNQ
  PFPGYIDPDSLIVQDHYVFVQLTSGGRPHYYVSYRRNAFAQMKLPKYALPKDMHVISTDE
  NQVFAAVQEWNQNDTYNLYISDTRGVYFTLALENVQSSRGPEGNIMIDLYEVAGIKGMFL
  ANKKIDNQVKTFITYNKGRDWRLLQAPDTDLRGDPVHCLLPYCSLHLHLKVSENPYTSGI
  IASKDTAPSIIVASGNIGSELSDTDISMFVSSDAGNTWRQIFEEEHSVLYLDQGGVLVAM
  KHTSLPIRHLWLSFDEGRSWSKYSFTSIPLFVDGVLGEPGEETLIMTVFGHFSHRSEWQL
  VKVDYKSIFDRRCAEEDYRPWQLHSQGEACIMGAKRIYKKRKSERKCMQGKYAGAMESEP
  CVCTEADFDCDYGYERHSNGQCLPAFWFNPSSLSKDCSLGQSYLNSTGYRKVVSNNCTDG
  VREQYTAKPQKCPGKAPRGLRIVTADGKLTAEQGHNVTLMVQLEEGDVQRTLIQVDFGDG
  IAVSYVNLSSMEDGIKHVYQNVGIFRVTVQVDNSLGSDSAVLYLHVTCPLEHVHLSLPFV
  TTKNKEVNATAVLWPSQVGTLTYVWWYGNNTEPLITLEGSISFRFTSEGMNTITVQVSAG
  NAILQDTKTIAVYEEFRSLRLSFSPNLDDYNPDIPEWRRDIGRVIKKSLVEATGVPGQHI
  LVAVLPGLPTTAELFVLPYQDPAGENKRSTDDLEQISELLIHTLNQNSVHFELKPGVRVL
  VHAAHLTAAPLVDLTPTHSGSAMLMLLSVVFVGLAVFVIYKFKRRVALPSPPSPSTQPGD
  SSLRLQRARHATPPSTPKRGSAGAQYAI

• Sequence length: 1168

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Alzheimer disease 6	Likely pathogenic	rs1844748933	RCV002254415	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE 6, LATE-ONSET	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	18830724, 19241460, 21280075, 23279143, 23595767, 23673467, 23700427, 24731980, 26166206, 36697254	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	22353753, 23700427		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GWASDB_DG	22843504		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28350845	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23673467	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31829024		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33858496	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17426289, 19875614, 20881129, 22555376, 26916443		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	19875614	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17426289, 19875614, 20881129, 22555376, 26916443		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19875614	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23279143	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17426289, 21294870, 23279143, 26916443		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	26166206	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	19875614		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	19875614	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23780848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28827148, 30061605		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36232761	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24752583		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27052493, 33921825	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27052493		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	27052493	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	19875614	Stimulate	★☆☆☆☆ Found in Text Mining only