Q8WY21 (SORC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 89.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: VPS10 domain-containing receptor SorCS1 Short name=hSorCS | ||||
| Gene names |
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| 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 | 1168 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Subcellular location | |
| Tissue specificity | Detected in fetal and infant brain and in fetal retina. |
| Sequence similarities | Belongs to the VPS10-related sortilin family. SORCS subfamily. Contains 5 BNR repeats. Contains 1 PKD domain. |
| Sequence caution | The sequence BAD92379.1 differs from that shown. Reason: Erroneous initiation. The sequence CAI40754.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI40755.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Signal Transmembrane Transmembrane helix |
| PTM | Glycoprotein |
| Technical term | 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.6. Source: UniProtKB protein bindingInferred from physical interaction Ref.1. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8WY21-1) Also known as: B; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8WY21-2) The sequence of this isoform differs from the canonical sequence as follows: 1125-1168: RVALPSPPSP...RGSAGAQYAI → KIPGINVYAQ...TKEIPTYVNV | ||||||
| Note: Gene prediction based on EST data. | ||||||
| Isoform 3 (identifier: Q8WY21-3) Also known as: C; The sequence of this isoform differs from the canonical sequence as follows: 1125-1168: RVALPSPPSP...RGSAGAQYAI → KIPGINVYAQ...EKVESQLIGK | ||||||
| Isoform 4 (identifier: Q8WY21-4) Also known as: A; The sequence of this isoform differs from the canonical sequence as follows: 1125-1168: RVALPSPPSP...RGSAGAQYAI → CVSLYPRSPTPDLFLLPDRFRSMCYSDVHSSDGFY | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 33 | 33 | Potential | ||||||
| Chain | 34 – 1168 | 1135 | VPS10 domain-containing receptor SorCS1 | PRO_0000033170 | |||||
Regions | |||||||||
| Topological domain | 34 – 1099 | 1066 | Lumenal Potential | ||||||
| Transmembrane | 1100 – 1120 | 21 | Helical; Potential | ||||||
| Topological domain | 1121 – 1168 | 48 | Cytoplasmic Potential | ||||||
| Repeat | 208 – 219 | 12 | BNR 1 | ||||||
| Repeat | 256 – 267 | 12 | BNR 2 | ||||||
| Repeat | 492 – 503 | 12 | BNR 3 | ||||||
| Repeat | 569 – 580 | 12 | BNR 4 | ||||||
| Repeat | 611 – 622 | 12 | BNR 5 | ||||||
| Domain | 803 – 894 | 92 | PKD | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 184 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 352 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 433 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 765 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 776 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 816 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 847 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 908 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 929 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1125 – 1168 | 44 | RVALP…AQYAI → KIPGINVYAQMQNEKEQEMI SPVSHSESRPNVPQTELRRP GQLIDEKVESQLIGSISIVA ENQSTKEIPTYVNV in isoform 2. | VSP_006204 | |||||
| Alternative sequence | 1125 – 1168 | 44 | RVALP…AQYAI → KIPGINVYAQMQNEKEQEMI SPVSHSESRPNVPQTELRRP GQLIDEKVESQLIGK in isoform 3. | VSP_015140 | |||||
| Alternative sequence | 1125 – 1168 | 44 | RVALP…AQYAI → CVSLYPRSPTPDLFLLPDRF RSMCYSDVHSSDGFY in isoform 4. | VSP_015141 | |||||
| Natural variant | 223 | 1 | K → N in a breast cancer sample; somatic mutation. Ref.7 | VAR_036374 | |||||
Experimental info | |||||||||
| Sequence conflict | 231 | 1 | S → G in AAL56667. Ref.1 | ||||||
| Sequence conflict | 487 | 1 | N → Y in AAL56667. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterization of sorCS1, an alternatively spliced receptor with completely different cytoplasmic domains that mediate different trafficking in cells." Hermey G., Keat S.J., Madsen P., Jacobsen C., Petersen C.M., Gliemann J. J. Biol. Chem. 278:7390-7396(2003) [PubMed: 12482870] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3 AND 4). |
| [2] | Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [3] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [6] | "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: REVIEW. |
| [7] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-223. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF284756 mRNA. Translation: AAL56667.1. AY099452 mRNA. Translation: AAM43811.1. AY099453 mRNA. Translation: AAM43812.1. AB209142 mRNA. Translation: BAD92379.1. Different initiation. AL160010 AL357333 Genomic DNA. Translation: CAH70582.1.AL356255 AL357333 Genomic DNA. Translation: CAH73442.1.AL356308 AL357333 Genomic DNA. Translation: CAI14367.1.AL357333 AL356308 Genomic DNA. Translation: CAI16407.1.AL133395 AL357333 Genomic DNA. Translation: CAI40753.1.AL133395 Genomic DNA. Translation: CAI40754.1. Sequence problems. AL133395 Genomic DNA. Translation: CAI40755.1. Sequence problems. CH471066 Genomic DNA. Translation: EAW49583.1. BC131597 mRNA. Translation: AAI31598.1. |
| IPI | IPI00103597. IPI00412910. IPI00644354. IPI00644454. |
| RefSeq | NP_001013049.1. NM_001013031.2. NP_001193498.1. NM_001206569.1. NP_001193499.1. NM_001206570.1. NP_001193500.1. NM_001206571.1. NP_001193501.1. NM_001206572.1. NP_443150.3. NM_052918.4. |
| UniGene | Hs.591915. |
3D structure databases | |
| ProteinModelPortal | Q8WY21. |
| SMR | Q8WY21. Positions 274-312, 565-627, 774-891, 917-975. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q8WY21. |
PTM databases | |
| PhosphoSite | Q8WY21. |
Polymorphism databases | |
| DMDM | 66774216. |
Proteomic databases | |
| PRIDE | Q8WY21. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000263054; ENSP00000263054; ENSG00000108018. |
| GeneID | 114815. |
| KEGG | hsa:114815. |
| UCSC | uc001kyl.1. human. uc001kym.1. human. uc001kyn.1. human. uc001kyo.2. human. |
Organism-specific databases | |
| CTD | 114815. |
| GeneCards | GC10M108323. |
| H-InvDB | HIX0025919. |
| HGNC | HGNC:16697. SORCS1. |
| HPA | HPA011948. |
| MIM | 606283. gene. |
| neXtProt | NX_Q8WY21. |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00510000046443. |
| HOVERGEN | HBG059252. |
| OMA | SGGRPHY. |
| PhylomeDB | Q8WY21. |
Gene expression databases | |
| ArrayExpress | Q8WY21. |
| Bgee | Q8WY21. |
| Genevestigator | Q8WY21. |
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. 2 hits. SM00602. VPS10. 1 hit. [Graphical view] |
| SUPFAM | SSF49299. PKD. 2 hits. |
| PROSITE | PS50093. PKD. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 79273. |
| SOURCE | Search... |
Entry information
| Entry name | SORC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8WY21 Secondary accession number(s): A2RRF4 Q9H1Y2 | ||||||||
| Entry history |
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| 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 10 Human chromosome 10: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with