P14314 (GLU2B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	528 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)

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 component	Endoplasmic reticulum
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Signal
Ligand	Calcium Metal-binding
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	N-glycan processing Inferred from electronic annotation. Source: InterPro innate immune response Traceable author statement. Source: Reactome intracellular protein kinase cascade Non-traceable author statement Ref.1Ref.2. Source: UniProtKB negative regulation of neuron projection development Inferred from electronic annotation. Source: Compara 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: Compara
Cellular_component	endoplasmic reticulum lumen Traceable author statement. Source: Reactome
Molecular_function	RNA binding Inferred from electronic annotation. Source: Compara calcium ion binding Inferred from electronic annotation. Source: InterPro
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 14	14	Ref.8
	Chain	15 – 528	514	Glucosidase 2 subunit beta		PRO_0000004143
Regions
	Domain	209 – 244	36	EF-hand 1
	Domain	245 – 290	46	EF-hand 2
	Domain	413 – 468	56	PRKCSH
	Calcium binding	213 – 236	24	1 Potential
	Motif	525 – 528	4	Prevents secretion from ER Potential
	Compositional bias	313 – 336	24	Glu-rich (acidic)
Amino acid modifications
	Modified residue	89	1	Phosphoserine; by PKC Potential
	Modified residue	383	1	Phosphoserine; by PKC Potential
	Modified residue	390	1	Phosphoserine; by PKC Potential
	Modified residue	434	1	Phosphoserine; by PKC Potential
	Glycosylation	72	1	N-linked (GlcNAc...) Potential
	Glycosylation	476	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	337 – 346	10	EAPPPLSPPQ → VQGEQPK in isoform 2.		VSP_043749
	Natural variant	74	1	S → N. Corresponds to variant rs10406672 [ dbSNP | Ensembl ].		VAR_028761
	Natural variant	291	1	A → T. Ref.4 Ref.7 Corresponds to variant rs11557488 [ dbSNP | Ensembl ].		VAR_028762
	Natural variant	338	1	A → G. Corresponds to variant rs35847588 [ dbSNP | Ensembl ].		VAR_048658
Experimental info
	Sequence conflict	325	1	Missing in AAA52493. Ref.1
	Sequence conflict	325	1	Missing in AAA98668. Ref.2
	Sequence conflict	325	1	Missing in AAP88860. Ref.4
	Sequence conflict	325	1	Missing in AAH13586. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 8DAD9776037E878E	FASTA	528	59,425
	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
	Isoform 2 [UniParc]. Checksum: ABACF156C534F30E	FASTA	525	59,178
	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 EEEDSEVQGE QPKPASPAEE DKMPPYDEQT 370 380 390 400 410 420 QAFIDAAQEA RNKFEEAERS LKDMEESIRN LEQEISFDFG PNGEFAYLYS QCYELTTNEY 430 440 450 460 470 480 VYRLCPFKLV SQKPKLGGSP TSLGTWGSWI GPDHDKFSAM KYEQGTGCWQ GPNRSTTVRL 490 500 510 520 LCGKETMVTS TTEPSRCEYL MELMTPAACP EPPPEAPTED DHDEL

References

	« Hide 'large scale' referencesShow '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. , 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. , 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

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	J03075 mRNA. Translation: AAA52493.1. U50326 , 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.
IPI	IPI00026154. IPI00792916.
PIR	A32469.
RefSeq	NP_001001329.1. NM_001001329.1. NP_002734.2. NM_002743.2.
UniGene	Hs.610830.
3D structure databases
ProteinModelPortal	P14314.
ModBase	Search...
Protein-protein interaction databases
IntAct	P14314. 11 interactions.
MINT	MINT-1380114.
STRING	9606.ENSP00000252455.
PTM databases
PhosphoSite	P14314.
Polymorphism databases
DMDM	116242499.
Proteomic databases
PaxDb	P14314.
PRIDE	P14314.
Protocols and materials databases
DNASU	5589.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000252455; ENSP00000252455; ENSG00000130175. ENST00000412601; ENSP00000395616; ENSG00000130175. ENST00000586486; ENSP00000465948; ENSG00000130175. ENST00000587327; ENSP00000466012; ENSG00000130175. ENST00000589838; ENSP00000465461; ENSG00000130175. ENST00000591462; ENSP00000465489; ENSG00000130175.
GeneID	5589.
KEGG	hsa:5589.
UCSC	uc002mrt.3. human.
Organism-specific databases
CTD	5589.
GeneCards	GC19P011546.
HGNC	HGNC:9411. PRKCSH.
HPA	CAB004465.
MIM	174050. phenotype. 177060. gene.
neXtProt	NX_P14314.
Orphanet	2924. Polycystic liver disease.
PharmGKB	PA33774.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG289998.
HOGENOM	HOG000007805.
HOVERGEN	HBG051738.
InParanoid	P14314.
KO	K08288.
OMA	CTNAGYK.
OrthoDB	EOG4DFPNG.
PhylomeDB	P14314.
Enzyme and pathway databases
BRENDA	3.2.1.84. 2681.
Reactome	REACT_17015. Metabolism of proteins. REACT_6900. Immune System.
UniPathway	UPA00957.
Gene expression databases
Bgee	P14314.
CleanEx	HS_PRKCSH.
Genevestigator	P14314.
GermOnline	ENSG00000130175. Homo sapiens.
Family and domain databases
Gene3D	4.10.400.10. 2 hits.
InterPro	IPR018247. EF_Hand_1_Ca_BS. IPR002048. EF_hand_dom. IPR026874. Glucosidase_2_bsu. IPR002172. LDrepeatLR_classA_rpt. IPR009011. Man6P_isomerase_rcpt-bd_dom. [Graphical view]
PANTHER	PTHR12630:SF1. PTHR12630:SF1. 1 hit.
Pfam	PF13202. EF_hand_3. 2 hits. [Graphical view]
SMART	SM00192. LDLa. 1 hit. [Graphical view]
SUPFAM	SSF57424. LDL_rcpt_classA_cys-rich. 1 hit. SSF50911. Man6php_recept. 1 hit.
PROSITE	PS00018. EF_HAND_1. 1 hit. PS50222. EF_HAND_2. 1 hit. PS00014. ER_TARGET. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL5242.
ChiTaRS	PRKCSH. human.
GenomeRNAi	5589.
NextBio	21678.
PMAP-CutDB	P14314.
SOURCE	Search...

Entry information

Entry name

GLU2B_HUMAN

Accession

Primary (citable) accession number: P14314
Secondary accession number(s): A8K318 , Q96BU9, Q96D06, Q9P0W9

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 1, 1990
Last sequence update:	October 17, 2006
Last modified:	May 1, 2013
This is version 146 of the entry and version 2 of the sequence. [Complete 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.