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Q14108

- SCRB2_HUMAN

UniProt

Q14108 - SCRB2_HUMAN

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Protein

Lysosome membrane protein 2

Gene

SCARB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.1 Publication

GO - Molecular functioni

  1. enzyme binding Source: BHF-UCL
  2. receptor activity Source: InterPro

GO - Biological processi

  1. cell adhesion Source: InterPro
  2. protein targeting to lysosome Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Names & Taxonomyi

Protein namesi
Recommended name:
Lysosome membrane protein 2
Alternative name(s):
85 kDa lysosomal membrane sialoglycoprotein
Short name:
LGP85
CD36 antigen-like 2
Lysosome membrane protein II
Short name:
LIMP II
Scavenger receptor class B member 2
CD_antigen: CD36
Gene namesi
Name:SCARB2
Synonyms:CD36L2, LIMP2, LIMPII
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:1665. SCARB2.

Subcellular locationi

Lysosome membrane 3 Publications; Multi-pass membrane protein 3 Publications

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProtKB
  2. focal adhesion Source: UniProtKB
  3. integral component of membrane Source: UniProtKB-KW
  4. lysosomal lumen Source: BHF-UCL
  5. lysosomal membrane Source: UniProtKB
  6. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) [MIM:254900]: An autosomal recessive progressive myoclonic epilepsy associated with renal failure in some cases. Cognitive function is preserved. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti363 – 3631H → N in EPM4; no renal failure. 1 Publication
VAR_066744
Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease.1 Publication

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi475 – 4751L → A, G, D or V: Prevents the targeting of the protein to lysosomes. 1 Publication
Mutagenesisi475 – 4751L → I: Some loss in the efficiency of targeting of the protein to lysosomes. 1 Publication
Mutagenesisi476 – 4761I → A or V: Does not prevent the targeting of the protein to lysosomes completely. 1 Publication
Mutagenesisi476 – 4761I → D, E or G: Prevents the targeting of the protein to lysosomes. 1 Publication
Mutagenesisi476 – 4761I → L: Normal targeting of the protein to lysosomes. 1 Publication
Mutagenesisi477 – 4771R → A, E, G, K or Q: Normal targeting of the protein to lysosomes. 1 Publication
Mutagenesisi478 – 4781T → G, I, S or V: Normal targeting of the protein to lysosomes. 1 Publication

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi254900. phenotype.
Orphaneti163696. Action myoclonus - renal failure syndrome.
77259. Gaucher disease type 1.
308. Unverricht-Lundborg disease.
PharmGKBiPA35038.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 478477Lysosome membrane protein 2PRO_0000144155Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi45 – 451N-linked (GlcNAc...)2 Publications
Glycosylationi68 – 681N-linked (GlcNAc...)2 Publications
Glycosylationi105 – 1051N-linked (GlcNAc...)1 Publication
Glycosylationi206 – 2061N-linked (GlcNAc...)2 Publications
Glycosylationi224 – 2241N-linked (GlcNAc...)1 Publication
Glycosylationi249 – 2491N-linked (GlcNAc...)3 Publications
Disulfide bondi274 ↔ 3291 Publication
Glycosylationi304 – 3041N-linked (GlcNAc...)2 Publications
Disulfide bondi312 ↔ 3181 Publication
Glycosylationi325 – 3251N-linked (GlcNAc...)2 Publications
Glycosylationi412 – 4121N-linked (GlcNAc...)2 Publications
Glycosylationi430 – 4301N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ14108.
PaxDbiQ14108.
PeptideAtlasiQ14108.
PRIDEiQ14108.

PTM databases

PhosphoSiteiQ14108.

Expressioni

Gene expression databases

BgeeiQ14108.
CleanExiHS_SCARB2.
ExpressionAtlasiQ14108. baseline and differential.
GenevestigatoriQ14108.

Organism-specific databases

HPAiCAB015415.
HPA018014.

Interactioni

Subunit structurei

Interacts with GBA.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PLCG1P191742EBI-1564650,EBI-79387

Protein-protein interaction databases

BioGridi107388. 16 interactions.
IntActiQ14108. 9 interactions.
MINTiMINT-4054592.
STRINGi9606.ENSP00000264896.

Structurei

Secondary structure

1
478
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi38 – 403
Helixi48 – 547
Beta strandi60 – 7011
Helixi72 – 765
Beta strandi82 – 10322
Turni104 – 1074
Beta strandi108 – 11912
Helixi121 – 1233
Beta strandi124 – 1263
Turni128 – 1303
Beta strandi132 – 1365
Helixi138 – 1469
Helixi150 – 16213
Beta strandi167 – 1726
Helixi173 – 1786
Helixi183 – 1919
Beta strandi197 – 1993
Turni201 – 2044
Beta strandi213 – 2164
Helixi222 – 2243
Beta strandi227 – 2315
Beta strandi234 – 2363
Beta strandi238 – 2425
Turni243 – 2464
Beta strandi266 – 2683
Helixi271 – 2733
Beta strandi277 – 28711
Beta strandi290 – 2967
Helixi299 – 3024
Helixi306 – 3116
Turni313 – 3164
Beta strandi323 – 3253
Turni327 – 3326
Beta strandi335 – 3384
Helixi340 – 3423
Helixi347 – 3515
Helixi360 – 3634
Beta strandi366 – 3694
Turni371 – 3733
Beta strandi376 – 38914
Helixi396 – 3983
Beta strandi403 – 41614
Helixi419 – 4268

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4F7BX-ray3.00A/B/C/D/E/F35-430[»]
4Q4BX-ray2.82A28-431[»]
4Q4FX-ray2.80A28-432[»]
ProteinModelPortaliQ14108.
SMRiQ14108. Positions 36-428.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 43CytoplasmicSequence Analysis
Topological domaini28 – 433406LumenalSequence AnalysisAdd
BLAST
Topological domaini460 – 47819CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei5 – 2723HelicalSequence AnalysisAdd
BLAST
Transmembranei434 – 45926HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni155 – 19137Important for interaction with GBAAdd
BLAST

Sequence similaritiesi

Belongs to the CD36 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG257244.
GeneTreeiENSGT00530000062927.
HOGENOMiHOG000252951.
HOVERGENiHBG106707.
InParanoidiQ14108.
KOiK12384.
OMAiLNESVHI.
OrthoDBiEOG79SDWX.
PhylomeDBiQ14108.
TreeFamiTF317925.

Family and domain databases

InterProiIPR002159. CD36.
IPR005429. LimpII.
[Graphical view]
PANTHERiPTHR11923. PTHR11923. 1 hit.
PfamiPF01130. CD36. 1 hit.
[Graphical view]
PRINTSiPR01609. CD36FAMILY.
PR01611. LIMPII.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q14108-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MGRCCFYTAG TLSLLLLVTS VTLLVARVFQ KAVDQSIEKK IVLRNGTEAF
60 70 80 90 100
DSWEKPPLPV YTQFYFFNVT NPEEILRGET PRVEEVGPYT YRELRNKANI
110 120 130 140 150
QFGDNGTTIS AVSNKAYVFE RDQSVGDPKI DLIRTLNIPV LTVIEWSQVH
160 170 180 190 200
FLREIIEAML KAYQQKLFVT HTVDELLWGY KDEILSLIHV FRPDISPYFG
210 220 230 240 250
LFYEKNGTND GDYVFLTGED SYLNFTKIVE WNGKTSLDWW ITDKCNMING
260 270 280 290 300
TDGDSFHPLI TKDEVLYVFP SDFCRSVYIT FSDYESVQGL PAFRYKVPAE
310 320 330 340 350
ILANTSDNAG FCIPEGNCLG SGVLNVSICK NGAPIIMSFP HFYQADERFV
360 370 380 390 400
SAIEGMHPNQ EDHETFVDIN PLTGIILKAA KRFQINIYVK KLDDFVETGD
410 420 430 440 450
IRTMVFPVMY LNESVHIDKE TASRLKSMIN TTLIITNIPY IIMALGVFFG
460 470
LVFTWLACKG QGSMDEGTAD ERAPLIRT
Length:478
Mass (Da):54,290
Last modified:January 23, 2007 - v2
Checksum:iFDCF27F3BA337B2C
GO
Isoform 2 (identifier: Q14108-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-235: Missing.

Note: No experimental confirmation available.

Show »
Length:335
Mass (Da):37,767
Checksum:i41D643B2B222B187
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti351 – 3511S → P in BAG59150. (PubMed:14702039)Curated

Mass spectrometryi

Molecular mass is 54158.97 Da from positions 2 - 478. Determined by MALDI. 1 Publication

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti363 – 3631H → N in EPM4; no renal failure. 1 Publication
VAR_066744
Natural varianti471 – 4711E → G May act as a modifier of Gaucher disease. 1 Publication
VAR_066745

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei93 – 235143Missing in isoform 2. 1 PublicationVSP_044826Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D12676 mRNA. Translation: BAA02177.1.
BT006939 mRNA. Translation: AAP35585.1.
AK296519 mRNA. Translation: BAG59150.1.
AK313016 mRNA. Translation: BAG35851.1.
AC034139 Genomic DNA. No translation available.
AC110795 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX05779.1.
BC021892 mRNA. Translation: AAH21892.1.
CCDSiCCDS3577.1. [Q14108-1]
CCDS56335.1. [Q14108-2]
PIRiA56525.
RefSeqiNP_001191184.1. NM_001204255.1. [Q14108-2]
NP_005497.1. NM_005506.3. [Q14108-1]
UniGeneiHs.349656.

Genome annotation databases

EnsembliENST00000264896; ENSP00000264896; ENSG00000138760. [Q14108-1]
ENST00000452464; ENSP00000399154; ENSG00000138760. [Q14108-2]
GeneIDi950.
KEGGihsa:950.
UCSCiuc003hju.2. human. [Q14108-1]

Polymorphism databases

DMDMi2498525.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D12676 mRNA. Translation: BAA02177.1 .
BT006939 mRNA. Translation: AAP35585.1 .
AK296519 mRNA. Translation: BAG59150.1 .
AK313016 mRNA. Translation: BAG35851.1 .
AC034139 Genomic DNA. No translation available.
AC110795 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX05779.1 .
BC021892 mRNA. Translation: AAH21892.1 .
CCDSi CCDS3577.1. [Q14108-1 ]
CCDS56335.1. [Q14108-2 ]
PIRi A56525.
RefSeqi NP_001191184.1. NM_001204255.1. [Q14108-2 ]
NP_005497.1. NM_005506.3. [Q14108-1 ]
UniGenei Hs.349656.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4F7B X-ray 3.00 A/B/C/D/E/F 35-430 [» ]
4Q4B X-ray 2.82 A 28-431 [» ]
4Q4F X-ray 2.80 A 28-432 [» ]
ProteinModelPortali Q14108.
SMRi Q14108. Positions 36-428.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107388. 16 interactions.
IntActi Q14108. 9 interactions.
MINTi MINT-4054592.
STRINGi 9606.ENSP00000264896.

PTM databases

PhosphoSitei Q14108.

Polymorphism databases

DMDMi 2498525.

Proteomic databases

MaxQBi Q14108.
PaxDbi Q14108.
PeptideAtlasi Q14108.
PRIDEi Q14108.

Protocols and materials databases

DNASUi 950.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264896 ; ENSP00000264896 ; ENSG00000138760 . [Q14108-1 ]
ENST00000452464 ; ENSP00000399154 ; ENSG00000138760 . [Q14108-2 ]
GeneIDi 950.
KEGGi hsa:950.
UCSCi uc003hju.2. human. [Q14108-1 ]

Organism-specific databases

CTDi 950.
GeneCardsi GC04M077079.
HGNCi HGNC:1665. SCARB2.
HPAi CAB015415.
HPA018014.
MIMi 254900. phenotype.
602257. gene.
neXtProti NX_Q14108.
Orphaneti 163696. Action myoclonus - renal failure syndrome.
77259. Gaucher disease type 1.
308. Unverricht-Lundborg disease.
PharmGKBi PA35038.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG257244.
GeneTreei ENSGT00530000062927.
HOGENOMi HOG000252951.
HOVERGENi HBG106707.
InParanoidi Q14108.
KOi K12384.
OMAi LNESVHI.
OrthoDBi EOG79SDWX.
PhylomeDBi Q14108.
TreeFami TF317925.

Miscellaneous databases

ChiTaRSi SCARB2. human.
GeneWikii SCARB2.
GenomeRNAii 950.
NextBioi 3952.
PROi Q14108.
SOURCEi Search...

Gene expression databases

Bgeei Q14108.
CleanExi HS_SCARB2.
ExpressionAtlasi Q14108. baseline and differential.
Genevestigatori Q14108.

Family and domain databases

InterProi IPR002159. CD36.
IPR005429. LimpII.
[Graphical view ]
PANTHERi PTHR11923. PTHR11923. 1 hit.
Pfami PF01130. CD36. 1 hit.
[Graphical view ]
PRINTSi PR01609. CD36FAMILY.
PR01611. LIMPII.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and sequencing of a cDNA clone encoding the 85 kDa human lysosomal sialoglycoprotein (hLGP85) in human metastatic pancreas islet tumor cells."
    Fujita H., Takata Y., Kono A., Tanaka Y., Takahashi T., Himeno M., Kato K.
    Biochem. Biophys. Res. Commun. 184:604-611(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution."
    Calvo D., Dopazo J., Vega M.A.
    Genomics 25:100-106(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Cerebellum and Thalamus.
  5. "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.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Eye.
  8. "The residues Leu(Ile)475-Ile(Leu, Val, Ala)476, contained in the extended carboxyl cytoplasmic tail, are critical for targeting of the resident lysosomal membrane protein LIMP II to lysosomes."
    Sandoval I.V., Arredondo J.J., Alcalde J., Gonzalez Noriega A., Vandekerckhove J., Jimenez M.A., Rico M.
    J. Biol. Chem. 269:6622-6631(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: MUTAGENESIS OF LEU-475; ILE-476; ARG-477 AND THR-478, SUBCELLULAR LOCATION.
  9. "Cluster analysis of an extensive human breast cancer cell line protein expression map database."
    Harris R.A., Yang A., Stein R.C., Lucy K., Brusten L., Herath A., Parekh R., Waterfield M.D., O'Hare M.J., Neville M.A., Page M.J., Zvelebil M.J.
    Proteomics 2:212-223(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: MASS SPECTROMETRY.
    Tissue: Mammary cancer.
  10. "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
    Zhang H., Li X.-J., Martin D.B., Aebersold R.
    Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-249 AND ASN-412.
  11. "LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase."
    Reczek D., Schwake M., Schroder J., Hughes H., Blanz J., Jin X., Brondyk W., Van Patten S., Edmunds T., Saftig P.
    Cell 131:770-783(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, REGION, INTERACTION WITH GBA.
  12. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Placenta.
  13. Cited for: INVOLVEMENT IN EPM4.
  14. "A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome."
    Balreira A., Gaspar P., Caiola D., Chaves J., Beirao I., Lima J.L., Azevedo J.E., Miranda M.C.
    Hum. Mol. Genet. 17:2238-2243(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN EPM4.
  15. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-45; ASN-68; ASN-105; ASN-206; ASN-249; ASN-304 AND ASN-325.
    Tissue: Liver.
  16. "Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy."
    Dibbens L.M., Karakis I., Bayly M.A., Costello D.J., Cole A.J., Berkovic S.F.
    Arch. Neurol. 68:812-813(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN EPM4.
  17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  18. Cited for: INVOLVEMENT IN GAUCHER DISEASE AS MODIFIER GENE, VARIANT GLY-471.
  19. Cited for: X-RAY CRYSTALLOGRAPHY (3.00 ANGSTROMS) OF 35-430, DISULFIDE BOND, GLYCOSYLATION AT ASN-45; ASN-68; ASN-206; ASN-224; ASN-249; ASN-304; ASN-325 AND ASN-412, INTERACTION WITH GBA.
  20. "Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme."
    Dardis A., Filocamo M., Grossi S., Ciana G., Franceschetti S., Dominissini S., Rubboli G., Di Rocco M., Bembi B.
    Mol. Genet. Metab. 97:309-311(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPM4 ASN-363.

Entry informationi

Entry nameiSCRB2_HUMAN
AccessioniPrimary (citable) accession number: Q14108
Secondary accession number(s): B4DKD8, E7EM68, Q53Y63
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 23, 2007
Last modified: October 29, 2014
This is version 140 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3