Q96PQ0 (SORC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 86.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: VPS10 domain-containing receptor SorCS2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1159 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subcellular location | |
| Tissue specificity | Highly expressed in brain and kidney. Detected at low levels in heart, liver, small intestine, skeletal muscle and thymus. |
| Sequence similarities | Belongs to the VPS10-related sortilin family. SORCS subfamily. Contains 6 BNR repeats. Contains 1 PKD domain. |
| Caution | The N-terminus of the protein was constructed in analogy to that of the mouse ortholog using the sequence of chromosome 4. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Polymorphism |
| Domain | Repeat Signal Transmembrane Transmembrane helix |
| PTM | Glycoprotein |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | neuropeptide receptor activity Non-traceable author statement Ref.2. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 50 | 50 | Potential | |||||||||||||||||||||||
| Chain | 51 – 1159 | 1109 | VPS10 domain-containing receptor SorCS2 | PRO_0000033172 | ||||||||||||||||||||||
Regions | ||||||||||||||||||||||||||
| Topological domain | 51 – 1078 | 1028 | Lumenal Potential | |||||||||||||||||||||||
| Transmembrane | 1079 – 1099 | 21 | Helical; Potential | |||||||||||||||||||||||
| Topological domain | 1100 – 1159 | 60 | Cytoplasmic Potential | |||||||||||||||||||||||
| Repeat | 182 – 193 | 12 | BNR 1 | |||||||||||||||||||||||
| Repeat | 232 – 243 | 12 | BNR 2 | |||||||||||||||||||||||
| Repeat | 273 – 284 | 12 | BNR 3 | |||||||||||||||||||||||
| Repeat | 468 – 479 | 12 | BNR 4 | |||||||||||||||||||||||
| Repeat | 545 – 556 | 12 | BNR 5 | |||||||||||||||||||||||
| Repeat | 587 – 598 | 12 | BNR 6 | |||||||||||||||||||||||
| Domain | 786 – 876 | 91 | PKD | |||||||||||||||||||||||
| Compositional bias | 13 – 104 | 92 | Pro-rich | |||||||||||||||||||||||
Amino acid modifications | ||||||||||||||||||||||||||
| Glycosylation | 158 | 1 | N-linked (GlcNAc...) Potential | |||||||||||||||||||||||
| Glycosylation | 328 | 1 | N-linked (GlcNAc...) Potential | |||||||||||||||||||||||
| Glycosylation | 362 | 1 | N-linked (GlcNAc...) Potential | |||||||||||||||||||||||
| Glycosylation | 600 | 1 | N-linked (GlcNAc...) Potential | |||||||||||||||||||||||
| Glycosylation | 830 | 1 | N-linked (GlcNAc...) Potential | |||||||||||||||||||||||
| Glycosylation | 891 | 1 | N-linked (GlcNAc...) Potential | |||||||||||||||||||||||
| Glycosylation | 902 | 1 | N-linked (GlcNAc...) Potential | |||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||
| Natural variant | 345 | 1 | G → R. Corresponds to variant rs34058821 [ dbSNP | Ensembl ]. | VAR_060109 | ||||||||||||||||||||||
| Natural variant | 695 | 1 | T → M. Corresponds to variant rs16840892 [ dbSNP | Ensembl ]. | VAR_060110 | ||||||||||||||||||||||
| Natural variant | 745 | 1 | T → I. Corresponds to variant rs16840899 [ dbSNP | Ensembl ]. | VAR_060111 | ||||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||||
| Sequence conflict | 716 | 1 | S → P in BAA92567. Ref.3 | |||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||
| Beta strand | 782 – 789 | 8 | ||||||||||||||||||||||||
| Beta strand | 800 – 808 | 9 | ||||||||||||||||||||||||
| Beta strand | 815 – 819 | 5 | ||||||||||||||||||||||||
| Beta strand | 821 – 823 | 3 | ||||||||||||||||||||||||
| Beta strand | 825 – 830 | 6 | ||||||||||||||||||||||||
| Helix | 831 – 834 | 4 | ||||||||||||||||||||||||
| Beta strand | 838 – 840 | 3 | ||||||||||||||||||||||||
| Beta strand | 848 – 855 | 8 | ||||||||||||||||||||||||
| Beta strand | 860 – 867 | 8 | ||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | "The genes for the human VPS10 domain-containing receptors are large and contain many small exons." Hampe W., Rezgaoui M., Hermans-Borgmeyer I., Schaller H.C. Hum. Genet. 108:529-536(2001) [PubMed: 11499680] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 35-451. |
| [3] | "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:65-73(2000) [PubMed: 10718198] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 253-1159. Tissue: Brain. |
| [4] | "Solution structure of the PKD domain from human VPS10 domain-containing receptor SORCS2." RIKEN structural genomics initiative (RSGI) Submitted (NOV-2004) to the PDB data bank Cited for: STRUCTURE BY NMR OF 760-869. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AC004169 Genomic DNA. No translation available. AC080003 Genomic DNA. No translation available. AC097382 Genomic DNA. No translation available. AC112710 Genomic DNA. No translation available. AC116316 Genomic DNA. No translation available. AF286190 mRNA. Translation: AAL04014.1. AB037750 mRNA. Translation: BAA92567.1. | ||||||||||||
| IPI | IPI00044600. | ||||||||||||
| RefSeq | NP_065828.2. NM_020777.2. | ||||||||||||
| UniGene | Hs.479099. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q96PQ0. | ||||||||||||
| SMR | Q96PQ0. Positions 179-244, 250-289, 543-600, 764-872. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| STRING | Q96PQ0. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 296453015. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | Q96PQ0. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000403286; ENSP00000384595; ENSG00000184985. | ||||||||||||
| GeneID | 57537. | ||||||||||||
| KEGG | hsa:57537. | ||||||||||||
| UCSC | uc003gkb.2. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 57537. | ||||||||||||
| GeneCards | GC04P007259. | ||||||||||||
| H-InvDB | HIX0004076. | ||||||||||||
| HGNC | HGNC:16698. SORCS2. | ||||||||||||
| MIM | 606284. gene. | ||||||||||||
| neXtProt | NX_Q96PQ0. | ||||||||||||
| PharmGKB | PA134902026. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | prNOG16195. | ||||||||||||
| GeneTree | ENSGT00510000046443. | ||||||||||||
| HOGENOM | HBG445080. | ||||||||||||
| HOVERGEN | HBG059252. | ||||||||||||
| OMA | LIFHPKE. | ||||||||||||
| PhylomeDB | Q96PQ0. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q96PQ0. | ||||||||||||
| Bgee | Q96PQ0. | ||||||||||||
| CleanEx | HS_SORCS2. | ||||||||||||
| Genevestigator | Q96PQ0. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR022409. PKD/Chitinase_dom. IPR000601. PKD_dom. IPR006581. VPS10. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:2.60.40.670. PKD. 1 hit. | ||||||||||||
| Pfam | PF00801. PKD. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00089. PKD. 1 hit. SM00602. VPS10. 1 hit. [Graphical view] | ||||||||||||
| SUPFAM | SSF49299. PKD. 1 hit. | ||||||||||||
| PROSITE | PS50093. PKD. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| NextBio | 63960. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | SORC2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96PQ0 Secondary accession number(s): Q9P2L7 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 4 Human chromosome 4: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with