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Q9BRB3

- PIGQ_HUMAN

UniProt

Q9BRB3 - PIGQ_HUMAN

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Protein

Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q

Gene

PIGQ

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

Functioni

Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.

Catalytic activityi

UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol.

Pathwayi

GO - Molecular functioni

  1. phosphatidylinositol N-acetylglucosaminyltransferase activity Source: UniProtKB-EC

GO - Biological processi

  1. carbohydrate metabolic process Source: ProtInc
  2. cellular protein metabolic process Source: Reactome
  3. C-terminal protein lipidation Source: Reactome
  4. post-translational protein modification Source: Reactome
  5. preassembly of GPI anchor in ER membrane Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

GPI-anchor biosynthesis

Enzyme and pathway databases

BRENDAi2.4.1.198. 2681.
ReactomeiREACT_952. Synthesis of glycosylphosphatidylinositol (GPI).
UniPathwayiUPA00196.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q (EC:2.4.1.198)
Alternative name(s):
N-acetylglucosamyl transferase component GPI1
Phosphatidylinositol-glycan biosynthesis class Q protein
Short name:
PIG-Q
Gene namesi
Name:PIGQ
Synonyms:GPI1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:14135. PIGQ.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei278 – 29821HelicalSequence AnalysisAdd
BLAST
Transmembranei349 – 37123HelicalSequence AnalysisAdd
BLAST
Transmembranei378 – 40023HelicalSequence AnalysisAdd
BLAST
Transmembranei446 – 46823HelicalSequence AnalysisAdd
BLAST
Transmembranei475 – 49723HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex Source: Ensembl
  3. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

Orphaneti1934. Early infantile epileptic encephalopathy.
PharmGKBiPA33299.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 760759Phosphatidylinositol N-acetylglucosaminyltransferase subunit QPRO_0000215664Add
BLAST

Proteomic databases

MaxQBiQ9BRB3.
PaxDbiQ9BRB3.
PRIDEiQ9BRB3.

PTM databases

PhosphoSiteiQ9BRB3.

Expressioni

Gene expression databases

BgeeiQ9BRB3.
CleanExiHS_PIGQ.
ExpressionAtlasiQ9BRB3. baseline and differential.
GenevestigatoriQ9BRB3.

Organism-specific databases

HPAiHPA039105.
HPA039828.

Interactioni

Subunit structurei

Associates with PIGA, PIGC, PIGH, PIGP and DPM2. The latter is not essential for activity.

Protein-protein interaction databases

BioGridi114545. 7 interactions.
IntActiQ9BRB3. 3 interactions.
MINTiMINT-1182611.
STRINGi9606.ENSP00000026218.

Structurei

3D structure databases

ProteinModelPortaliQ9BRB3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi214 – 536323Leu-richAdd
BLAST

Sequence similaritiesi

Belongs to the PIGQ family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG242183.
GeneTreeiENSGT00390000004994.
HOVERGENiHBG036559.
InParanoidiQ9BRB3.
KOiK03860.
OrthoDBiEOG7K6PTR.
PhylomeDBiQ9BRB3.
TreeFamiTF321258.

Family and domain databases

InterProiIPR007720. GlcNAc_Gpi1.
[Graphical view]
PfamiPF05024. Gpi1. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BRB3-1) [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
MVLKAFFPTC CVSTDSGLLV GRWVPEQSSA VVLAVLHFPF IPIQVKQLLA
60 70 80 90 100
QVRQASQVGV AVLGTWCHCR QEPEESLGRF LESLGAVFPH EPWLRLCRER
110 120 130 140 150
GGTFWSCEAT HRQAPTAPGA PGEDQVMLIF YDQRQVLLSQ LHLPTVLPDR
160 170 180 190 200
QAGATTASTG GLAAVFDTVA RSEVLFRSDR FDEGPVRLSH WQSEGVEASI
210 220 230 240 250
LAELARRASG PICLLLASLL SLVSAVSACR VFKLWPLSFL GSKLSTCEQL
260 270 280 290 300
RHRLEHLTLI FSTRKAENPA QLMRKANTVA SVLLDVALGL MLLSWLHGRS
310 320 330 340 350
RIGHLADALV PVADHVAEEL QHLLQWLMGA PAGLKMNRAL DQVLGRFFLY
360 370 380 390 400
HIHLWISYIH LMSPFVEHIL WHVGLSACLG LTVALSLLSD IIALLTFHIY
410 420 430 440 450
CFYVYGARLY CLKIHGLSSL WRLFRGKKWN VLRQRVDSCS YDLDQLFIGT
460 470 480 490 500
LLFTILLFLL PTTALYYLVF TLLRLLVVAV QGLIHLLVDL INSLPLYSLG
510 520 530 540 550
LRLCRPYRLA DKPTALQPRG AHLPPPQLWL PPQALLGRPV PQAVPWGAHL
560 570 580 590 600
PLEAERGQAG LRELLARLAP PHGHSQPSAL PGWHQLSWRM SCALWTLLCA
610 620 630 640 650
PEHGRPCYHT LGLEVIGSEQ MWGWPARLAA LHHWHCLPWD PLPTCCGHHG
660 670 680 690 700
GEHSNPRCPE HCPMPTLCTQ VQRVRPPQQP QVEGWSPWGL PSGSALAVGV
710 720 730 740 750
EGPCQDEPPS PRHPLAPSAE QHPASGGLKQ SLTPVPSGPG PSLPEPHGVY
760
LRMFPGEVAL

Note: No experimental confirmation available.

Length:760
Mass (Da):84,082
Last modified:January 23, 2007 - v3
Checksum:iDBF900ADCE08DA98
GO
Isoform 2 (identifier: Q9BRB3-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     511-581: DKPTALQPRG...HGHSQPSALP → AGVKFRVLRH...PWRQRGDKQD
     582-760: Missing.

Show »
Length:581
Mass (Da):65,344
Checksum:iA5C055C7C144661D
GO
Isoform 3 (identifier: Q9BRB3-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     275-299: KANTVASVLLDVALGLMLLSWLHGR → CGPALVSAGLGACPLAPSPSPSAPR
     300-760: Missing.

Note: No experimental confirmation available.

Show »
Length:299
Mass (Da):32,471
Checksum:i260AA154769F6F41
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141T → A.2 Publications
Corresponds to variant rs2071979 [ dbSNP | Ensembl ].
VAR_015596
Natural varianti592 – 5921C → R.
Corresponds to variant rs1045277 [ dbSNP | Ensembl ].
VAR_053579
Natural varianti668 – 6681C → R.
Corresponds to variant rs710924 [ dbSNP | Ensembl ].
VAR_053580
Natural varianti668 – 6681C → Y.
Corresponds to variant rs710925 [ dbSNP | Ensembl ].
VAR_053581

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei275 – 29925KANTV…WLHGR → CGPALVSAGLGACPLAPSPS PSAPR in isoform 3. 1 PublicationVSP_007279Add
BLAST
Alternative sequencei300 – 760461Missing in isoform 3. 1 PublicationVSP_007280Add
BLAST
Alternative sequencei511 – 58171DKPTA…PSALP → AGVKFRVLRHEAGRPLRLLM QINPLPYSRVVHTYRLPSCG CHPKHSWGALCRKLFLGELI YPWRQRGDKQD in isoform 2. 2 PublicationsVSP_007281Add
BLAST
Alternative sequencei582 – 760179Missing in isoform 2. 2 PublicationsVSP_007282Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF030177 mRNA. Translation: AAC32661.1.
AB003723 mRNA. Translation: BAA24948.1.
AE006464 Genomic DNA. Translation: AAK61235.1.
Z98883 Genomic DNA. Translation: CAB56148.2.
Z98883 Genomic DNA. Translation: CAM26442.1.
CH471112 Genomic DNA. Translation: EAW85796.1.
CH471112 Genomic DNA. Translation: EAW85797.1.
CH471112 Genomic DNA. Translation: EAW85799.1.
BC006377 mRNA. Translation: AAH06377.1.
BC010094 mRNA. No translation available.
CCDSiCCDS10411.1. [Q9BRB3-1]
CCDS10412.1. [Q9BRB3-2]
RefSeqiNP_004195.2. NM_004204.3. [Q9BRB3-2]
NP_683721.1. NM_148920.2. [Q9BRB3-1]
UniGeneiHs.741878.
Hs.744949.

Genome annotation databases

EnsembliENST00000026218; ENSP00000026218; ENSG00000007541. [Q9BRB3-1]
ENST00000321878; ENSP00000326674; ENSG00000007541. [Q9BRB3-2]
ENST00000409527; ENSP00000386760; ENSG00000007541. [Q9BRB3-2]
ENST00000470411; ENSP00000439650; ENSG00000007541. [Q9BRB3-3]
GeneIDi9091.
KEGGihsa:9091.
UCSCiuc002chm.3. human. [Q9BRB3-3]
uc002chn.3. human. [Q9BRB3-2]
uc002cho.3. human. [Q9BRB3-1]

Polymorphism databases

DMDMi30173119.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF030177 mRNA. Translation: AAC32661.1 .
AB003723 mRNA. Translation: BAA24948.1 .
AE006464 Genomic DNA. Translation: AAK61235.1 .
Z98883 Genomic DNA. Translation: CAB56148.2 .
Z98883 Genomic DNA. Translation: CAM26442.1 .
CH471112 Genomic DNA. Translation: EAW85796.1 .
CH471112 Genomic DNA. Translation: EAW85797.1 .
CH471112 Genomic DNA. Translation: EAW85799.1 .
BC006377 mRNA. Translation: AAH06377.1 .
BC010094 mRNA. No translation available.
CCDSi CCDS10411.1. [Q9BRB3-1 ]
CCDS10412.1. [Q9BRB3-2 ]
RefSeqi NP_004195.2. NM_004204.3. [Q9BRB3-2 ]
NP_683721.1. NM_148920.2. [Q9BRB3-1 ]
UniGenei Hs.741878.
Hs.744949.

3D structure databases

ProteinModelPortali Q9BRB3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114545. 7 interactions.
IntActi Q9BRB3. 3 interactions.
MINTi MINT-1182611.
STRINGi 9606.ENSP00000026218.

PTM databases

PhosphoSitei Q9BRB3.

Polymorphism databases

DMDMi 30173119.

Proteomic databases

MaxQBi Q9BRB3.
PaxDbi Q9BRB3.
PRIDEi Q9BRB3.

Protocols and materials databases

DNASUi 9091.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000026218 ; ENSP00000026218 ; ENSG00000007541 . [Q9BRB3-1 ]
ENST00000321878 ; ENSP00000326674 ; ENSG00000007541 . [Q9BRB3-2 ]
ENST00000409527 ; ENSP00000386760 ; ENSG00000007541 . [Q9BRB3-2 ]
ENST00000470411 ; ENSP00000439650 ; ENSG00000007541 . [Q9BRB3-3 ]
GeneIDi 9091.
KEGGi hsa:9091.
UCSCi uc002chm.3. human. [Q9BRB3-3 ]
uc002chn.3. human. [Q9BRB3-2 ]
uc002cho.3. human. [Q9BRB3-1 ]

Organism-specific databases

CTDi 9091.
GeneCardsi GC16P000616.
HGNCi HGNC:14135. PIGQ.
HPAi HPA039105.
HPA039828.
MIMi 605754. gene.
neXtProti NX_Q9BRB3.
Orphaneti 1934. Early infantile epileptic encephalopathy.
PharmGKBi PA33299.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG242183.
GeneTreei ENSGT00390000004994.
HOVERGENi HBG036559.
InParanoidi Q9BRB3.
KOi K03860.
OrthoDBi EOG7K6PTR.
PhylomeDBi Q9BRB3.
TreeFami TF321258.

Enzyme and pathway databases

UniPathwayi UPA00196 .
BRENDAi 2.4.1.198. 2681.
Reactomei REACT_952. Synthesis of glycosylphosphatidylinositol (GPI).

Miscellaneous databases

ChiTaRSi PIGQ. human.
GeneWikii PIGQ.
GenomeRNAii 9091.
NextBioi 34061.
PROi Q9BRB3.
SOURCEi Search...

Gene expression databases

Bgeei Q9BRB3.
CleanExi HS_PIGQ.
ExpressionAtlasi Q9BRB3. baseline and differential.
Genevestigatori Q9BRB3.

Family and domain databases

InterProi IPR007720. GlcNAc_Gpi1.
[Graphical view ]
Pfami PF05024. Gpi1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants."
    Tiede A., Schubert J., Nischan C., Jensen I., Westfall B., Taron C.H., Orlean P., Schmidt R.E.
    Biochem. J. 334:609-616(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. "The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1."
    Watanabe R., Inoue N., Westfall B., Taron C.H., Orlean P., Takeda J., Kinoshita T.
    EMBO J. 17:877-885(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  3. "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
    Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.
    Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-14.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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] (ISOFORMS 1 AND 3), VARIANT ALA-14.
    Tissue: Melanoma and Retinoblastoma.
  7. "Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2."
    Watanabe R., Murakami Y., Marmor M.D., Inoue N., Maeda Y., Hino J., Kangawa K., Julius M., Kinoshita T.
    EMBO J. 19:4402-4411(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2-6.

Entry informationi

Entry nameiPIGQ_HUMAN
AccessioniPrimary (citable) accession number: Q9BRB3
Secondary accession number(s): A2IDE1
, D3DU52, O14927, Q96G00, Q96S22, Q9UJH4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 23, 2003
Last sequence update: January 23, 2007
Last modified: October 29, 2014
This is version 117 of the entry and version 3 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 16
    Human chromosome 16: 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