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Entry version 128 (07 Oct 2020)
Sequence version 1 (01 Feb 1997)
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Protein

GPI mannosyltransferase 3

Gene

PIGB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the third alpha-1,2-mannose to Man2-GlcN-acyl-PI during GPI precursor assembly.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosyltransferase, Transferase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q92521

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI)

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00196

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT22, Glycosyltransferase Family 22

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
GPI mannosyltransferase 3Curated (EC:2.4.1.-)
Alternative name(s):
GPI mannosyltransferase III
Short name:
GPI-MT-III
Phosphatidylinositol-glycan biosynthesis class B protein
Short name:
PIG-B
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PIGBImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000069943.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8959, PIGB

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604122, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q92521

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei63 – 83HelicalSequence analysisAdd BLAST21
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Transmembranei192 – 212HelicalSequence analysisAdd BLAST21
Transmembranei224 – 244HelicalSequence analysisAdd BLAST21
Transmembranei255 – 275HelicalSequence analysisAdd BLAST21
Transmembranei315 – 335HelicalSequence analysisAdd BLAST21
Transmembranei340 – 360HelicalSequence analysisAdd BLAST21
Transmembranei362 – 382HelicalSequence analysisAdd BLAST21
Transmembranei387 – 407HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epileptic encephalopathy, early infantile, 80 (EIEE80)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE80 is an autosomal recessive form characterized by onset of refractory seizures in the first year of life, severe global developmental delay and/or intellectual disability. Additional variable features include polyneuropathy, hearing loss, visual impairment, dysmorphic or coarse facial features, and distal skeletal abnormalities.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08307071R → Q in EIEE80; strongly decreased protein levels; slightly decreased cell surface presence of GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs369838467EnsemblClinVar.1
Natural variantiVAR_08307190S → P in EIEE80. 1 Publication1
Natural variantiVAR_083073155D → H in EIEE80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372158001Ensembl.1
Natural variantiVAR_083074232R → H in EIEE80; no effect on protein levels; decreased cell surface presence of GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs758196959EnsemblClinVar.1
Natural variantiVAR_083075282Q → QRCQ in EIEE80; strongly decreased protein levels; decreased cell surface presence of GPI-anchored proteins. 1 Publication1
Natural variantiVAR_083076286V → L in EIEE80; decreased protein levels; decreased cell surface presence of GPI-anchored proteins. 1 Publication1
Natural variantiVAR_083077388A → P in EIEE80; decreased protein levels; decreased cell surface presence of GPI-anchored proteins. 1 Publication1
Natural variantiVAR_083078407H → R in EIEE80; decreased protein levels; slightly decreased cell surface presence of GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs1566960044EnsemblClinVar.1
Natural variantiVAR_083079537I → M in EIEE80; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
9488

MalaCards human disease database

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MalaCardsi
PIGB
MIMi618580, phenotype

Open Targets

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OpenTargetsi
ENSG00000069943

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33290

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q92521, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PIGB

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74716597

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002462511 – 554GPI mannosyltransferase 3Add BLAST554

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi26N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi427N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q92521

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q92521

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q92521

MaxQB - The MaxQuant DataBase

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MaxQBi
Q92521

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q92521

PeptideAtlas

More...
PeptideAtlasi
Q92521

PRoteomics IDEntifications database

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PRIDEi
Q92521

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
75280

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q92521, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q92521

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q92521

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000069943, Expressed in small intestine Peyer's patch and 211 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q92521, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92521, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000069943, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
114870, 13 interactors

Protein interaction database and analysis system

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IntActi
Q92521, 7 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000164305

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q92521, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1771, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00950000183090

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_012353_2_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q92521

KEGG Orthology (KO)

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KOi
K05286

Database of Orthologous Groups

More...
OrthoDBi
901894at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q92521

TreeFam database of animal gene trees

More...
TreeFami
TF313518

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR005599, GPI_mannosylTrfase
IPR039521, PIG-B/GPI10

The PANTHER Classification System

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PANTHERi
PTHR22760, PTHR22760, 1 hit
PTHR22760:SF4, PTHR22760:SF4, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03901, Glyco_transf_22, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q92521-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRRPLSKCGM EPGGGDASLT LHGLQNRSHG KIKLRKRKST LYFNTQEKSA
60 70 80 90 100
RRRGDLLGEN IYLLLFTIAL RILNCFLVQT SFVPDEYWQS LEVSHHMVFN
110 120 130 140 150
YGYLTWEWTE RLRSYTYPLI FASIYKILHL LGKDSVQLLI WIPRLAQALL
160 170 180 190 200
SAVADVRLYS LMKQLENQEV ARWVFFCQLC SWFTWYCCTR TLTNTMETVL
210 220 230 240 250
TIIALFYYPL EGSKSMNSVK YSSLVALAFI IRPTAVILWT PLLFRHFCQE
260 270 280 290 300
PRKLDLILHH FLPVGFVTLS LSLMIDRIFF GQWTLVQFNF LKFNVLQNWG
310 320 330 340 350
TFYGSHPWHW YFSQGFPVIL GTHLPFFIHG CYLAPKRYRI LLVTVLWTLL
360 370 380 390 400
VYSMLSHKEF RFIYPVLPFC MVFCGYSLTH LKTWKKPALS FLFLSNLFLA
410 420 430 440 450
LYTGLVHQRG TLDVMSHIQK VCYNNPNKSS ASIFIMMPCH STPYYSHVHC
460 470 480 490 500
PLPMRFLQCP PDLTGKSHYL DEADVFYLNP LNWLHREFHD DASLPTHLIT
510 520 530 540 550
FSILEEEISA FLISSNYKRT AVFFHTHLPE GRIGSHIYVY ERKLKGKFNM

KMKF
Length:554
Mass (Da):65,056
Last modified:February 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB2AF87D13ADF90B3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BS45H3BS45_HUMAN
Mannosyltransferase
PIGB
255Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BNW7H3BNW7_HUMAN
Mannosyltransferase
PIGB
88Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H1S1F5H1S1_HUMAN
Mannosyltransferase
PIGB
555Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BQU3H3BQU3_HUMAN
GPI mannosyltransferase 3
PIGB
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BRK6H3BRK6_HUMAN
GPI mannosyltransferase 3
PIGB
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti198T → I in BAD97050 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02702768I → L1 PublicationCorresponds to variant dbSNP:rs17851556Ensembl.1
Natural variantiVAR_08307071R → Q in EIEE80; strongly decreased protein levels; slightly decreased cell surface presence of GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs369838467EnsemblClinVar.1
Natural variantiVAR_08307190S → P in EIEE80. 1 Publication1
Natural variantiVAR_083072131 – 554Missing in EIEE8; unknown pathological significance. 1 PublicationAdd BLAST424
Natural variantiVAR_083073155D → H in EIEE80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372158001Ensembl.1
Natural variantiVAR_027028162M → T. Corresponds to variant dbSNP:rs2290344Ensembl.1
Natural variantiVAR_083074232R → H in EIEE80; no effect on protein levels; decreased cell surface presence of GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs758196959EnsemblClinVar.1
Natural variantiVAR_083075282Q → QRCQ in EIEE80; strongly decreased protein levels; decreased cell surface presence of GPI-anchored proteins. 1 Publication1
Natural variantiVAR_083076286V → L in EIEE80; decreased protein levels; decreased cell surface presence of GPI-anchored proteins. 1 Publication1
Natural variantiVAR_027029299W → L2 PublicationsCorresponds to variant dbSNP:rs678892Ensembl.1
Natural variantiVAR_083077388A → P in EIEE80; decreased protein levels; decreased cell surface presence of GPI-anchored proteins. 1 Publication1
Natural variantiVAR_083078407H → R in EIEE80; decreased protein levels; slightly decreased cell surface presence of GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs1566960044EnsemblClinVar.1
Natural variantiVAR_027030484L → S1 PublicationCorresponds to variant dbSNP:rs17851554Ensembl.1
Natural variantiVAR_049224502S → G. Corresponds to variant dbSNP:rs652397Ensembl.1
Natural variantiVAR_083079537I → M in EIEE80; unknown pathological significance. 1 Publication1
Natural variantiVAR_027031551K → T. Corresponds to variant dbSNP:rs2444042EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
D42138 mRNA Translation: BAA07709.1
AK223330 mRNA Translation: BAD97050.1
BC017711 mRNA Translation: AAH17711.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS61641.1

Protein sequence database of the Protein Information Resource

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PIRi
S71751

NCBI Reference Sequences

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RefSeqi
NP_004846.4, NM_004855.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000164305; ENSP00000164305; ENSG00000069943

Database of genes from NCBI RefSeq genomes

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GeneIDi
9488

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9488

UCSC genome browser

More...
UCSCi
uc002act.4, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D42138 mRNA Translation: BAA07709.1
AK223330 mRNA Translation: BAD97050.1
BC017711 mRNA Translation: AAH17711.1
CCDSiCCDS61641.1
PIRiS71751
RefSeqiNP_004846.4, NM_004855.4

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi114870, 13 interactors
IntActiQ92521, 7 interactors
STRINGi9606.ENSP00000164305

Protein family/group databases

CAZyiGT22, Glycosyltransferase Family 22

PTM databases

GlyGeniQ92521, 2 sites
iPTMnetiQ92521
PhosphoSitePlusiQ92521

Polymorphism and mutation databases

BioMutaiPIGB
DMDMi74716597

Proteomic databases

EPDiQ92521
jPOSTiQ92521
MassIVEiQ92521
MaxQBiQ92521
PaxDbiQ92521
PeptideAtlasiQ92521
PRIDEiQ92521
ProteomicsDBi75280

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
25067, 89 antibodies

Genome annotation databases

EnsembliENST00000164305; ENSP00000164305; ENSG00000069943
GeneIDi9488
KEGGihsa:9488
UCSCiuc002act.4, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9488
DisGeNETi9488
EuPathDBiHostDB:ENSG00000069943.9

GeneCards: human genes, protein and diseases

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GeneCardsi
PIGB
HGNCiHGNC:8959, PIGB
HPAiENSG00000069943, Low tissue specificity
MalaCardsiPIGB
MIMi604122, gene
618580, phenotype
neXtProtiNX_Q92521
OpenTargetsiENSG00000069943
PharmGKBiPA33290

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1771, Eukaryota
GeneTreeiENSGT00950000183090
HOGENOMiCLU_012353_2_0_1
InParanoidiQ92521
KOiK05286
OrthoDBi901894at2759
PhylomeDBiQ92521
TreeFamiTF313518

Enzyme and pathway databases

UniPathwayiUPA00196
PathwayCommonsiQ92521
ReactomeiR-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI)

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
9488, 53 hits in 852 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PIGB, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PIGB

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9488
PharosiQ92521, Tbio

Protein Ontology

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PROi
PR:Q92521
RNActiQ92521, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000069943, Expressed in small intestine Peyer's patch and 211 other tissues
ExpressionAtlasiQ92521, baseline and differential
GenevisibleiQ92521, HS

Family and domain databases

InterProiView protein in InterPro
IPR005599, GPI_mannosylTrfase
IPR039521, PIG-B/GPI10
PANTHERiPTHR22760, PTHR22760, 1 hit
PTHR22760:SF4, PTHR22760:SF4, 1 hit
PfamiView protein in Pfam
PF03901, Glyco_transf_22, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPIGB_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92521
Secondary accession number(s): Q53FF9, Q8WVN7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: February 1, 1997
Last modified: October 7, 2020
This is version 128 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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