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P14314 (GLU2B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 156. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glucosidase 2 subunit beta
Alternative name(s):
80K-H protein
Glucosidase II subunit beta
Protein kinase C substrate 60.1 kDa protein heavy chain
Short name=PKCSH
Gene names
Name:PRKCSH
Synonyms:G19P1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length528 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Regulatory subunit of glucosidase II. Ref.3

Pathway

Glycan metabolism; N-glycan metabolism.

Subunit structure

Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC By similarity.

Subcellular location

Endoplasmic reticulum Potential Ref.3.

Involvement in disease

Polycystic liver disease (PCLD) [MIM:174050]: A hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10

Sequence similarities

Contains 2 EF-hand domains.

Contains 1 PRKCSH domain.

Sequence caution

The sequence AAH15154.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Signal
   LigandCalcium
Metal-binding
   PTMGlycoprotein
Phosphoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processN-glycan processing

Inferred from electronic annotation. Source: InterPro

cellular protein metabolic process

Traceable author statement. Source: Reactome

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

innate immune response

Traceable author statement. Source: Reactome

intracellular signal transduction

Non-traceable author statement Ref.1Ref.2. Source: UniProtKB

liver development

Inferred from electronic annotation. Source: Ensembl

negative regulation of neuron projection development

Inferred from electronic annotation. Source: Ensembl

nitrogen compound metabolic process

Inferred from electronic annotation. Source: Ensembl

post-translational protein modification

Traceable author statement. Source: Reactome

protein N-linked glycosylation via asparagine

Traceable author statement. Source: Reactome

protein folding

Traceable author statement. Source: Reactome

protein heterooligomerization

Inferred from electronic annotation. Source: Ensembl

renal system development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentendoplasmic reticulum

Inferred from direct assay PubMed 19801576. Source: UniProt

endoplasmic reticulum lumen

Traceable author statement. Source: Reactome

intracellular

Non-traceable author statement Ref.1. Source: UniProtKB

   Molecular_functionRNA binding

Inferred from electronic annotation. Source: Ensembl

calcium ion binding

Inferred from electronic annotation. Source: InterPro

ion channel binding

Inferred from physical interaction PubMed 19801576. Source: UniProt

phosphoprotein binding

Inferred from physical interaction PubMed 19801576. Source: UniProt

protein kinase C binding

Inferred from physical interaction PubMed 15707389. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P14314-1)

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: P14314-2)

The sequence of this isoform differs from the canonical sequence as follows:
     337-346: EAPPPLSPPQ → VQGEQPK

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1414 Ref.8
Chain15 – 528514Glucosidase 2 subunit beta
PRO_0000004143

Regions

Domain209 – 24436EF-hand 1
Domain245 – 29046EF-hand 2
Domain413 – 46856PRKCSH
Calcium binding213 – 236241 Potential
Motif525 – 5284Prevents secretion from ER Potential
Compositional bias313 – 33624Glu-rich (acidic)

Amino acid modifications

Modified residue891Phosphoserine; by PKC Potential
Modified residue1661N6-succinyllysine By similarity
Modified residue3831Phosphoserine; by PKC Potential
Modified residue3901Phosphoserine; by PKC Potential
Modified residue4341Phosphoserine; by PKC Potential
Glycosylation721N-linked (GlcNAc...) Potential
Glycosylation4761N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence337 – 34610EAPPPLSPPQ → VQGEQPK in isoform 2.
VSP_043749
Natural variant741S → N.
Corresponds to variant rs10406672 [ dbSNP | Ensembl ].
VAR_028761
Natural variant2911A → T. Ref.4 Ref.7
Corresponds to variant rs11557488 [ dbSNP | Ensembl ].
VAR_028762
Natural variant3381A → G.
Corresponds to variant rs35847588 [ dbSNP | Ensembl ].
VAR_048658

Experimental info

Sequence conflict3251Missing in AAA52493. Ref.1
Sequence conflict3251Missing in AAA98668. Ref.2
Sequence conflict3251Missing in AAP88860. Ref.4
Sequence conflict3251Missing in AAH13586. Ref.6

Sequences

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

Last modified October 17, 2006. Version 2.
Checksum: 8DAD9776037E878E

FASTA52859,425
        10         20         30         40         50         60 
MLLPLLLLLP MCWAVEVKRP RGVSLTNHHF YDESKPFTCL DGSATIPFDQ VNDDYCDCKD 

        70         80         90        100        110        120 
GSDEPGTAAC PNGSFHCTNT GYKPLYIPSN RVNDGVCDCC DGTDEYNSGV ICENTCKEKG 

       130        140        150        160        170        180 
RKERESLQQM AEVTREGFRL KKILIEDWKK AREEKQKKLI ELQAGKKSLE DQVEMLRTVK 

       190        200        210        220        230        240 
EEAEKPEREA KEQHQKLWEE QLAAAKAQQE QELAADAFKE LDDDMDGTVS VTELQTHPEL 

       250        260        270        280        290        300 
DTDGDGALSE AEAQALLSGD TQTDATSFYD RVWAAIRDKY RSEALPTDLP APSAPDLTEP 

       310        320        330        340        350        360 
KEEQPPVPSS PTEEEEEEEE EEEEEAEEEE EEEDSEEAPP PLSPPQPASP AEEDKMPPYD 

       370        380        390        400        410        420 
EQTQAFIDAA QEARNKFEEA ERSLKDMEES IRNLEQEISF DFGPNGEFAY LYSQCYELTT 

       430        440        450        460        470        480 
NEYVYRLCPF KLVSQKPKLG GSPTSLGTWG SWIGPDHDKF SAMKYEQGTG CWQGPNRSTT 

       490        500        510        520 
VRLLCGKETM VTSTTEPSRC EYLMELMTPA ACPEPPPEAP TEDDHDEL 

« Hide

Isoform 2 [UniParc].

Checksum: ABACF156C534F30E
Show »

FASTA52559,178

References

« Hide 'large scale' references
[1]"Isolation of cDNAs encoding a substrate for protein kinase C: nucleotide sequence and chromosomal mapping of the gene for a human 80K protein."
Sakai K., Masamichi H., Minoshima S., Kudoh J., Fukuyama R., Shimizu N.
Genomics 5:309-315(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE.
[2]"A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene."
Ophoff R.A., Terwindt G.M., Vergouwe M.N., van Eijk R., Mohrenweiser H., Litt M., Hofker M.H., Haan J., Ferrari M.D., Frants R.R.
Eur. J. Hum. Genet. 4:321-328(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"The heterodimeric structure of glucosidase II is required for its activity, solubility, and localization in vivo."
Pelletier M.F., Marcil A., Sevigny G., Jakob C.A., Tessier D.C., Chevet E., Menard R., Bergeron J.J.M., Thomas D.Y.
Glycobiology 10:815-827(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH GANAB, SUBCELLULAR LOCATION.
Tissue: Lymphocyte.
[4]"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 (AUG-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 130-528 (ISOFORM 1), VARIANT THR-291.
[5]"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. expand/collapse author list , 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] (ISOFORM 2).
[6]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
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] OF 22-528 (ISOFORM 2), VARIANT THR-291.
Tissue: Lung.
[8]"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J.
Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 15-21.
Tissue: Platelet.
[9]"Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease."
Li A., Davila S., Furu L., Qian Q., Tian X., Kamath P.S., King B.F., Torres V.E., Somlo S.
Am. J. Hum. Genet. 72:691-703(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PCLD.
[10]"Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease."
Drenth J.P.H., te Morsche R.H.M., Smink R., Bonifacino J.S., Jansen J.B.M.J.
Nat. Genet. 33:345-347(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PCLD.
[11]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
J03075 mRNA. Translation: AAA52493.1.
U50326 expand/collapse EMBL AC list , U50317, U50318, U50319, U50320, U50321, U50322, U50323, U50324, U50325 Genomic DNA. Translation: AAA98668.1.
AF144075 mRNA. Translation: AAF66686.1.
BT009858 mRNA. Translation: AAP88860.1.
AK290433 mRNA. Translation: BAF83122.1.
AC008481 Genomic DNA. No translation available.
AC024575 Genomic DNA. No translation available.
BC013586 mRNA. Translation: AAH13586.2.
BC015154 mRNA. Translation: AAH15154.1. Different initiation.
PIRA32469.
RefSeqNP_001001329.1. NM_001001329.2.
NP_002734.2. NM_002743.3.
UniGeneHs.610830.

3D structure databases

ProteinModelPortalP14314.
SMRP14314. Positions 33-107, 423-512.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111575. 26 interactions.
IntActP14314. 13 interactions.
MINTMINT-1380114.
STRING9606.ENSP00000252455.

PTM databases

PhosphoSiteP14314.

Polymorphism databases

DMDM116242499.

Proteomic databases

PaxDbP14314.
PRIDEP14314.

Protocols and materials databases

DNASU5589.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252455; ENSP00000252455; ENSG00000130175. [P14314-1]
ENST00000412601; ENSP00000395616; ENSG00000130175. [P14314-2]
ENST00000586486; ENSP00000465948; ENSG00000130175.
ENST00000587327; ENSP00000466012; ENSG00000130175. [P14314-2]
ENST00000589838; ENSP00000465461; ENSG00000130175. [P14314-1]
ENST00000591462; ENSP00000465489; ENSG00000130175. [P14314-2]
GeneID5589.
KEGGhsa:5589.
UCSCuc002mrt.3. human. [P14314-1]
uc002mru.3. human. [P14314-2]

Organism-specific databases

CTD5589.
GeneCardsGC19P011546.
HGNCHGNC:9411. PRKCSH.
HPACAB004465.
HPA041940.
MIM174050. phenotype.
177060. gene.
neXtProtNX_P14314.
Orphanet2924. Isolated polycystic liver disease.
PharmGKBPA33774.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG289998.
HOGENOMHOG000007805.
HOVERGENHBG051738.
InParanoidP14314.
KOK08288.
OrthoDBEOG7DZ8JX.
PhylomeDBP14314.
TreeFamTF329550.

Enzyme and pathway databases

BRENDA3.2.1.84. 2681.
ReactomeREACT_17015. Metabolism of proteins.
REACT_6900. Immune System.
SignaLinkP14314.
UniPathwayUPA00957.

Gene expression databases

ArrayExpressP14314.
BgeeP14314.
CleanExHS_PRKCSH.
GenevestigatorP14314.

Family and domain databases

Gene3D2.70.130.10. 1 hit.
4.10.400.10. 2 hits.
InterProIPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR026874. Glucosidase_2_bsu.
IPR002172. LDrepeatLR_classA_rpt.
IPR009011. Man6P_isomerase_rcpt-bd_dom.
IPR028146. PRKCSH_N.
[Graphical view]
PANTHERPTHR12630:SF1. PTHR12630:SF1. 1 hit.
PfamPF13202. EF-hand_5. 2 hits.
PF12999. PRKCSH-like. 1 hit.
[Graphical view]
SMARTSM00192. LDLa. 1 hit.
[Graphical view]
SUPFAMSSF50911. SSF50911. 1 hit.
SSF57424. SSF57424. 1 hit.
PROSITEPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
PS00014. ER_TARGET. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPRKCSH. human.
GeneWikiPRKCSH.
GenomeRNAi5589.
NextBio21678.
PMAP-CutDBP14314.
PROP14314.
SOURCESearch...

Entry information

Entry nameGLU2B_HUMAN
AccessionPrimary (citable) accession number: P14314
Secondary accession number(s): A8K318 expand/collapse secondary AC list , Q96BU9, Q96D06, Q9P0W9
Entry history
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 156 of the entry and version 2 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

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM