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P14314

- GLU2B_HUMAN

UniProt

P14314 - GLU2B_HUMAN

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Protein
Glucosidase 2 subunit beta
Gene
PRKCSH, G19P1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Regulatory subunit of glucosidase II.1 Publication

Pathwayi

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi213 – 236241 Reviewed prediction
Add
BLAST

GO - Molecular functioni

  1. RNA binding Source: Ensembl
  2. calcium ion binding Source: InterPro
  3. ion channel binding Source: UniProt
  4. phosphoprotein binding Source: UniProt
  5. protein kinase C binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. N-glycan processing Source: InterPro
  2. cellular protein metabolic process Source: Reactome
  3. in utero embryonic development Source: Ensembl
  4. innate immune response Source: Reactome
  5. intracellular signal transduction Source: UniProtKB
  6. liver development Source: Ensembl
  7. negative regulation of neuron projection development Source: Ensembl
  8. nitrogen compound metabolic process Source: Ensembl
  9. post-translational protein modification Source: Reactome
  10. protein N-linked glycosylation via asparagine Source: Reactome
  11. protein folding Source: Reactome
  12. protein heterooligomerization Source: Ensembl
  13. renal system development Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BRENDAi3.2.1.84. 2681.
ReactomeiREACT_23810. Calnexin/calreticulin cycle.
REACT_23878. N-glycan trimming in the ER and Calnexin/Calreticulin cycle.
REACT_25195. Advanced glycosylation endproduct receptor signaling.
SignaLinkiP14314.
UniPathwayiUPA00957.

Names & Taxonomyi

Protein namesi
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 namesi
Name:PRKCSH
Synonyms:G19P1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:9411. PRKCSH.

Subcellular locationi

Endoplasmic reticulum Reviewed prediction 1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProt
  2. endoplasmic reticulum lumen Source: Reactome
  3. intracellular Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

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.2 Publications

Organism-specific databases

MIMi174050. phenotype.
Orphaneti2924. Isolated polycystic liver disease.
PharmGKBiPA33774.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 14141 Publication
Add
BLAST
Chaini15 – 528514Glucosidase 2 subunit beta
PRO_0000004143Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi72 – 721N-linked (GlcNAc...) Reviewed prediction
Modified residuei89 – 891Phosphoserine; by PKC Reviewed prediction
Modified residuei166 – 1661N6-succinyllysine By similarity
Modified residuei383 – 3831Phosphoserine; by PKC Reviewed prediction
Modified residuei390 – 3901Phosphoserine; by PKC Reviewed prediction
Modified residuei434 – 4341Phosphoserine; by PKC Reviewed prediction
Glycosylationi476 – 4761N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP14314.
PaxDbiP14314.
PRIDEiP14314.

PTM databases

PhosphoSiteiP14314.

Miscellaneous databases

PMAP-CutDBP14314.

Expressioni

Gene expression databases

ArrayExpressiP14314.
BgeeiP14314.
CleanExiHS_PRKCSH.
GenevestigatoriP14314.

Organism-specific databases

HPAiCAB004465.
HPA041940.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi111575. 28 interactions.
IntActiP14314. 13 interactions.
MINTiMINT-1380114.
STRINGi9606.ENSP00000252455.

Structurei

3D structure databases

ProteinModelPortaliP14314.
SMRiP14314. Positions 423-512.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini209 – 24436EF-hand 1
Add
BLAST
Domaini245 – 29046EF-hand 2
Add
BLAST
Domaini413 – 46856PRKCSH
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi525 – 5284Prevents secretion from ER Reviewed prediction

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi313 – 33624Glu-rich (acidic)
Add
BLAST

Sequence similaritiesi

Contains 2 EF-hand domains.
Contains 1 PRKCSH domain.

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiNOG289998.
HOGENOMiHOG000007805.
HOVERGENiHBG051738.
InParanoidiP14314.
KOiK08288.
OrthoDBiEOG7DZ8JX.
PhylomeDBiP14314.
TreeFamiTF329550.

Family and domain databases

Gene3Di2.70.130.10. 1 hit.
4.10.400.10. 2 hits.
InterProiIPR018247. 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]
PANTHERiPTHR12630:SF1. PTHR12630:SF1. 1 hit.
PfamiPF13202. EF-hand_5. 2 hits.
PF12999. PRKCSH-like. 1 hit.
[Graphical view]
SMARTiSM00192. LDLa. 1 hit.
[Graphical view]
SUPFAMiSSF50911. SSF50911. 1 hit.
SSF57424. SSF57424. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
PS00014. ER_TARGET. 1 hit.
[Graphical view]

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: P14314-1) [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

MLLPLLLLLP MCWAVEVKRP RGVSLTNHHF YDESKPFTCL DGSATIPFDQ    50
VNDDYCDCKD GSDEPGTAAC PNGSFHCTNT GYKPLYIPSN RVNDGVCDCC 100
DGTDEYNSGV ICENTCKEKG RKERESLQQM AEVTREGFRL KKILIEDWKK 150
AREEKQKKLI ELQAGKKSLE DQVEMLRTVK EEAEKPEREA KEQHQKLWEE 200
QLAAAKAQQE QELAADAFKE LDDDMDGTVS VTELQTHPEL DTDGDGALSE 250
AEAQALLSGD TQTDATSFYD RVWAAIRDKY RSEALPTDLP APSAPDLTEP 300
KEEQPPVPSS PTEEEEEEEE EEEEEAEEEE EEEDSEEAPP PLSPPQPASP 350
AEEDKMPPYD EQTQAFIDAA QEARNKFEEA ERSLKDMEES IRNLEQEISF 400
DFGPNGEFAY LYSQCYELTT NEYVYRLCPF KLVSQKPKLG GSPTSLGTWG 450
SWIGPDHDKF SAMKYEQGTG CWQGPNRSTT VRLLCGKETM VTSTTEPSRC 500
EYLMELMTPA ACPEPPPEAP TEDDHDEL 528
Length:528
Mass (Da):59,425
Last modified:October 17, 2006 - v2
Checksum:i8DAD9776037E878E
GO
Isoform 2 (identifier: P14314-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:525
Mass (Da):59,178
Checksum:iABACF156C534F30E
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741S → N.
Corresponds to variant rs10406672 [ dbSNP | Ensembl ].
VAR_028761
Natural varianti291 – 2911A → T.2 Publications
Corresponds to variant rs11557488 [ dbSNP | Ensembl ].
VAR_028762
Natural varianti338 – 3381A → G.
Corresponds to variant rs35847588 [ dbSNP | Ensembl ].
VAR_048658

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei337 – 34610EAPPPLSPPQ → VQGEQPK in isoform 2.
VSP_043749

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti325 – 3251Missing in AAA52493. 1 Publication
Sequence conflicti325 – 3251Missing in AAA98668. 1 Publication
Sequence conflicti325 – 3251Missing in AAP88860. 1 Publication
Sequence conflicti325 – 3251Missing in AAH13586. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS32911.1. [P14314-1]
CCDS45977.1. [P14314-2]
PIRiA32469.
RefSeqiNP_001001329.1. NM_001001329.2. [P14314-2]
NP_001276031.1. NM_001289102.1. [P14314-2]
NP_002734.2. NM_002743.3. [P14314-1]
UniGeneiHs.610830.

Genome annotation databases

EnsembliENST00000252455; 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]
GeneIDi5589.
KEGGihsa:5589.
UCSCiuc002mrt.3. human. [P14314-1]
uc002mru.3. human. [P14314-2]

Polymorphism databases

DMDMi116242499.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS32911.1. [P14314-1 ]
CCDS45977.1. [P14314-2 ]
PIRi A32469.
RefSeqi NP_001001329.1. NM_001001329.2. [P14314-2 ]
NP_001276031.1. NM_001289102.1. [P14314-2 ]
NP_002734.2. NM_002743.3. [P14314-1 ]
UniGenei Hs.610830.

3D structure databases

ProteinModelPortali P14314.
SMRi P14314. Positions 423-512.
ModBasei Search...

Protein-protein interaction databases

BioGridi 111575. 28 interactions.
IntActi P14314. 13 interactions.
MINTi MINT-1380114.
STRINGi 9606.ENSP00000252455.

PTM databases

PhosphoSitei P14314.

Polymorphism databases

DMDMi 116242499.

Proteomic databases

MaxQBi P14314.
PaxDbi P14314.
PRIDEi P14314.

Protocols and materials databases

DNASUi 5589.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252455 ; 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 ]
GeneIDi 5589.
KEGGi hsa:5589.
UCSCi uc002mrt.3. human. [P14314-1 ]
uc002mru.3. human. [P14314-2 ]

Organism-specific databases

CTDi 5589.
GeneCardsi GC19P011546.
HGNCi HGNC:9411. PRKCSH.
HPAi CAB004465.
HPA041940.
MIMi 174050. phenotype.
177060. gene.
neXtProti NX_P14314.
Orphaneti 2924. Isolated polycystic liver disease.
PharmGKBi PA33774.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289998.
HOGENOMi HOG000007805.
HOVERGENi HBG051738.
InParanoidi P14314.
KOi K08288.
OrthoDBi EOG7DZ8JX.
PhylomeDBi P14314.
TreeFami TF329550.

Enzyme and pathway databases

UniPathwayi UPA00957 .
BRENDAi 3.2.1.84. 2681.
Reactomei REACT_23810. Calnexin/calreticulin cycle.
REACT_23878. N-glycan trimming in the ER and Calnexin/Calreticulin cycle.
REACT_25195. Advanced glycosylation endproduct receptor signaling.
SignaLinki P14314.

Miscellaneous databases

ChiTaRSi PRKCSH. human.
GeneWikii PRKCSH.
GenomeRNAii 5589.
NextBioi 21678.
PMAP-CutDB P14314.
PROi P14314.
SOURCEi Search...

Gene expression databases

ArrayExpressi P14314.
Bgeei P14314.
CleanExi HS_PRKCSH.
Genevestigatori P14314.

Family and domain databases

Gene3Di 2.70.130.10. 1 hit.
4.10.400.10. 2 hits.
InterProi IPR018247. 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 ]
PANTHERi PTHR12630:SF1. PTHR12630:SF1. 1 hit.
Pfami PF13202. EF-hand_5. 2 hits.
PF12999. PRKCSH-like. 1 hit.
[Graphical view ]
SMARTi SM00192. LDLa. 1 hit.
[Graphical view ]
SUPFAMi SSF50911. SSF50911. 1 hit.
SSF57424. SSF57424. 1 hit.
PROSITEi PS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
PS00014. ER_TARGET. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiGLU2B_HUMAN
AccessioniPrimary (citable) accession number: P14314
Secondary accession number(s): A8K318
, Q96BU9, Q96D06, Q9P0W9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: October 17, 2006
Last modified: September 3, 2014
This is version 160 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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