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Q8WY21 (SORC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
VPS10 domain-containing receptor SorCS1

Short name=hSorCS
Gene names
Name:SORCS1
Synonyms:SORCS
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1168 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Single-pass type I membrane protein.

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 componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Signal
Transmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular componentintegral to membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functionneuropeptide receptor activity

Non-traceable author statement Ref.6. Source: UniProtKB

protein binding

Inferred 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3333 Potential
Chain34 – 11681135VPS10 domain-containing receptor SorCS1
PRO_0000033170

Regions

Topological domain34 – 10991066Lumenal Potential
Transmembrane1100 – 112021Helical; Potential
Topological domain1121 – 116848Cytoplasmic Potential
Repeat208 – 21912BNR 1
Repeat256 – 26712BNR 2
Repeat492 – 50312BNR 3
Repeat569 – 58012BNR 4
Repeat611 – 62212BNR 5
Domain803 – 89492PKD

Amino acid modifications

Glycosylation1841N-linked (GlcNAc...) Potential
Glycosylation3521N-linked (GlcNAc...) Potential
Glycosylation4331N-linked (GlcNAc...) Potential
Glycosylation7651N-linked (GlcNAc...) Potential
Glycosylation7761N-linked (GlcNAc...) Potential
Glycosylation8161N-linked (GlcNAc...) Potential
Glycosylation8471N-linked (GlcNAc...) Potential
Glycosylation9081N-linked (GlcNAc...) Potential
Glycosylation9291N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1125 – 116844RVALP…AQYAI → KIPGINVYAQMQNEKEQEMI SPVSHSESRPNVPQTELRRP GQLIDEKVESQLIGSISIVA ENQSTKEIPTYVNV in isoform 2.
VSP_006204
Alternative sequence1125 – 116844RVALP…AQYAI → KIPGINVYAQMQNEKEQEMI SPVSHSESRPNVPQTELRRP GQLIDEKVESQLIGK in isoform 3.
VSP_015140
Alternative sequence1125 – 116844RVALP…AQYAI → CVSLYPRSPTPDLFLLPDRF RSMCYSDVHSSDGFY in isoform 4.
VSP_015141
Natural variant2231K → N in a breast cancer sample; somatic mutation. Ref.7
VAR_036374

Experimental info

Sequence conflict2311S → G in AAL56667. Ref.1
Sequence conflict4871N → Y in AAL56667. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (B) [UniParc].

Last modified May 24, 2005. Version 3.
Checksum: BAF8D4FB87A4F998

FASTA1,168129,635
        10         20         30         40         50         60 
MGKVGAGGGS QARLSALLAG AGLLILCAPG VCGGGSCCPS PHPSSAPRSA STPRGFSHQG 

        70         80         90        100        110        120 
RPGRAPATPL PLVVRPLFSV APGDRALSLE RARGTGASMA VAARSGRRRR SGADQEKAER 

       130        140        150        160        170        180 
GEGASRSPRG VLRDGGQQEP GTRERDPDKA TRFRMEELRL TSTTFALTGD SAHNQAMVHW 

       190        200        210        220        230        240 
SGHNSSVILI LTKLYDYNLG SITESSLWRS TDYGTTYEKL NDKVGLKTIL SYLYVCPTNK 

       250        260        270        280        290        300 
RKIMLLTDPE IESSLLISSD EGATYQKYRL NFYIQSLLFH PKQEDWILAY SQDQKLYSSA 

       310        320        330        340        350        360 
EFGRRWQLIQ EGVVPNRFYW SVMGSNKEPD LVHLEARTVD GHSHYLTCRM QNCTEANRNQ 

       370        380        390        400        410        420 
PFPGYIDPDS LIVQDHYVFV QLTSGGRPHY YVSYRRNAFA QMKLPKYALP KDMHVISTDE 

       430        440        450        460        470        480 
NQVFAAVQEW NQNDTYNLYI SDTRGVYFTL ALENVQSSRG PEGNIMIDLY EVAGIKGMFL 

       490        500        510        520        530        540 
ANKKIDNQVK TFITYNKGRD WRLLQAPDTD LRGDPVHCLL PYCSLHLHLK VSENPYTSGI 

       550        560        570        580        590        600 
IASKDTAPSI IVASGNIGSE LSDTDISMFV SSDAGNTWRQ IFEEEHSVLY LDQGGVLVAM 

       610        620        630        640        650        660 
KHTSLPIRHL WLSFDEGRSW SKYSFTSIPL FVDGVLGEPG EETLIMTVFG HFSHRSEWQL 

       670        680        690        700        710        720 
VKVDYKSIFD RRCAEEDYRP WQLHSQGEAC IMGAKRIYKK RKSERKCMQG KYAGAMESEP 

       730        740        750        760        770        780 
CVCTEADFDC DYGYERHSNG QCLPAFWFNP SSLSKDCSLG QSYLNSTGYR KVVSNNCTDG 

       790        800        810        820        830        840 
VREQYTAKPQ KCPGKAPRGL RIVTADGKLT AEQGHNVTLM VQLEEGDVQR TLIQVDFGDG 

       850        860        870        880        890        900 
IAVSYVNLSS MEDGIKHVYQ NVGIFRVTVQ VDNSLGSDSA VLYLHVTCPL EHVHLSLPFV 

       910        920        930        940        950        960 
TTKNKEVNAT AVLWPSQVGT LTYVWWYGNN TEPLITLEGS ISFRFTSEGM NTITVQVSAG 

       970        980        990       1000       1010       1020 
NAILQDTKTI AVYEEFRSLR LSFSPNLDDY NPDIPEWRRD IGRVIKKSLV EATGVPGQHI 

      1030       1040       1050       1060       1070       1080 
LVAVLPGLPT TAELFVLPYQ DPAGENKRST DDLEQISELL IHTLNQNSVH FELKPGVRVL 

      1090       1100       1110       1120       1130       1140 
VHAAHLTAAP LVDLTPTHSG SAMLMLLSVV FVGLAVFVIY KFKRRVALPS PPSPSTQPGD 

      1150       1160 
SSLRLQRARH ATPPSTPKRG SAGAQYAI 

« Hide

Isoform 2 [UniParc].

Checksum: 1B7EE3F03DC9CDE0
Show »

FASTA1,198133,373
Isoform 3 (C) [UniParc].

Checksum: 0C2E5DACD6A47209
Show »

FASTA1,179131,327
Isoform 4 (A) [UniParc].

Checksum: 46135ADD8F627AAE
Show »

FASTA1,159129,141

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. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., 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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., 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 expand/collapse EMBL AC list , AL133395, AL356255, AL356308, AL357333 Genomic DNA. Translation: CAH70582.1.
AL356255 expand/collapse EMBL AC list , AL133395, AL160010, AL356308, AL357333 Genomic DNA. Translation: CAH73442.1.
AL356308 expand/collapse EMBL AC list , AL133395, AL160010, AL356255, AL357333 Genomic DNA. Translation: CAI14367.1.
AL357333 expand/collapse EMBL AC list , AL133395, AL160010, AL356255, AL356308 Genomic DNA. Translation: CAI16407.1.
AL133395 expand/collapse EMBL AC list , AL160010, AL356255, AL356308, 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.
IPIIPI00103597.
IPI00412910.
IPI00644354.
IPI00644454.
RefSeqNP_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.
UniGeneHs.591915.

3D structure databases

ProteinModelPortalQ8WY21.
SMRQ8WY21. Positions 274-312, 565-627, 774-891, 917-975.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ8WY21.

PTM databases

PhosphoSiteQ8WY21.

Polymorphism databases

DMDM66774216.

Proteomic databases

PRIDEQ8WY21.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263054; ENSP00000263054; ENSG00000108018.
GeneID114815.
KEGGhsa:114815.
UCSCuc001kyl.1. human.
uc001kym.1. human.
uc001kyn.1. human.
uc001kyo.2. human.

Organism-specific databases

CTD114815.
GeneCardsGC10M108323.
H-InvDBHIX0025919.
HGNCHGNC:16697. SORCS1.
HPAHPA011948.
MIM606283. gene.
neXtProtNX_Q8WY21.
GenAtlasSearch...

Phylogenomic databases

GeneTreeENSGT00510000046443.
HOVERGENHBG059252.
OMASGGRPHY.
PhylomeDBQ8WY21.

Gene expression databases

ArrayExpressQ8WY21.
BgeeQ8WY21.
GenevestigatorQ8WY21.

Family and domain databases

InterProIPR022409. PKD/Chitinase_dom.
IPR000601. PKD_dom.
IPR006581. VPS10.
[Graphical view]
Gene3DG3DSA:2.60.40.670. PKD. 1 hit.
PfamPF00801. PKD. 1 hit.
[Graphical view]
SMARTSM00089. PKD. 2 hits.
SM00602. VPS10. 1 hit.
[Graphical view]
SUPFAMSSF49299. PKD. 2 hits.
PROSITEPS50093. PKD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio79273.
SOURCESearch...

Entry information

Entry nameSORC1_HUMAN
AccessionPrimary (citable) accession number: Q8WY21
Secondary accession number(s): A2RRF4 expand/collapse secondary AC list , Q59GG7, Q5JVT7, Q5JVT8, Q5VY14, Q86WQ1, Q86WQ2, Q9H1Y1, Q9H1Y2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 13, 2002
Last sequence update: May 24, 2005
Last modified: January 25, 2012
This is version 89 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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