Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
We will be switching to the new UniProt website on Tuesday, June 28. Please explore and share your feedback. Take me to UniProt BETA

UniProtKB - Q14442 (PIGH_HUMAN)

Entry version 154 (25 May 2022)
Sequence version 1 (01 Nov 1996)
Previous versions | rss
Add a publicationFeedback
Protein

Phosphatidylinositol N-acetylglucosaminyltransferase subunit H

Gene

PIGH

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

Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.

2 Publications

<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.2 Publications
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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q14442

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q14442

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

More...UniPathwayi		UPA00196

<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:
Phosphatidylinositol N-acetylglucosaminyltransferase subunit HCurated
Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class H protein
Short name:
PIG-H
<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:PIGHImported
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8964, PIGH

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600154, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q14442

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000100564

<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

<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>Keywords - Cellular componenti

Cytoplasm

<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

Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features.
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_080993103S → P in GPIBD17; decreased expression of GPI-anchored proteins, including FCGR3B/CD16B and CD55, in patient's granulocytes. 1 PublicationCorresponds to variant dbSNP:rs776038451EnsemblClinVar.1

Keywords - Diseasei

Autism spectrum disorder, Disease variant, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		5283

MalaCards human disease database

More...MalaCardsi		PIGH
MIMi618010, phenotype

Open Targets

More...OpenTargetsi		ENSG00000100564

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33295

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q14442, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PIGH

Domain mapping of disease mutations (DMDM)

More...DMDMi		27151659

<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_00000584351 – 188Phosphatidylinositol N-acetylglucosaminyltransferase subunit HAdd BLAST188

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q14442

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q14442

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q14442

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q14442

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

More...PaxDbi		Q14442

PeptideAtlas

More...PeptideAtlasi		Q14442

PRoteomics IDEntifications database

More...PRIDEi		Q14442

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59991

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q14442

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

More...PhosphoSitePlusi		Q14442

<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

More...Bgeei		ENSG00000100564, Expressed in left lobe of thyroid gland and 226 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q14442, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q14442, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000100564, 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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PubMed:16162815, PubMed:9463366).

Interacts with PIGQ (PubMed:9463366).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111301, 180 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q14442

Protein interaction database and analysis system

More...IntActi		Q14442, 9 interactors

Molecular INTeraction database

More...MINTi		Q14442

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000216452

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q14442, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q14442

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

<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

Belongs to the PIGH family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4551, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000011890

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q14442

Identification of Orthologs from Complete Genome Data

More...OMAi		FVKIDHE

Database of Orthologous Groups

More...OrthoDBi		1431299at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q14442

TreeFam database of animal gene trees

More...TreeFami		TF324479

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019328, GPI-GlcNAc_Trfase_PIG-H_dom
IPR044215, PIG-H

The PANTHER Classification System

More...PANTHERi		PTHR15231, PTHR15231, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF10181, PIG-H, 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 8 potential isoforms that are computationally mapped.Show allAlign All

Q14442-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEDERSFSDI CGGRLALQRR YYSPSCREFC LSCPRLSLRS LTAVTCTVWL 
        60         70         80         90        100
AAYGLFTLCE NSMILSAAIF ITLLGLLGYL HFVKIDQETL LIIDSLGIQM 
       110        120        130        140        150
TSSYASGKES TTFIEMGKVK DIVINEAIYM QKVIYYLCIL LKDPVEPHGI 
       160        170        180 
SQVVPVFQSA KPRLDCLIEV YRSCQEILAH QKATSTSP
Length:188
Mass (Da):21,081
Last modified:November 1, 1996 - 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:iEE70E4156272AC8B
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DEE2B4DEE2_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGH
133Annotation 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>
H0YLY9H0YLY9_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGH
187Annotation 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>
H0YLD0H0YLD0_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGH
137Annotation 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>
H0YMV4H0YMV4_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGH
182Annotation 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>
H0YMT4H0YMT4_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGH
183Annotation 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>
H0YKI1H0YKI1_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGH
136Annotation 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>
H0YKZ3H0YKZ3_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGH
137Annotation 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>
H0YNL7H0YNL7_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGH
83Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080993103S → P in GPIBD17; decreased expression of GPI-anchored proteins, including FCGR3B/CD16B and CD55, in patient's granulocytes. 1 PublicationCorresponds to variant dbSNP:rs776038451EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
L19783 mRNA Translation: AAA03545.1
BT006804 mRNA Translation: AAP35450.1
AK314108 mRNA Translation: BAG36801.1
CH471061 Genomic DNA Translation: EAW80942.1
BC004100 mRNA Translation: AAH04100.1
BC071849 mRNA Translation: AAH71849.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9784.1

Protein sequence database of the Protein Information Resource

More...PIRi		A48024

NCBI Reference Sequences

More...RefSeqi		NP_004560.1, NM_004569.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000216452.9; ENSP00000216452.4; ENSG00000100564.9

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5283

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5283

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000216452.9; ENSP00000216452.4; NM_004569.5; NP_004560.1

UCSC genome browser

More...UCSCi		uc001xjr.2, human

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Functional Glycomics Gateway - GTase

Phosphatidylinositol N-acetylglucosaminyltransferase subunit H

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L19783 mRNA Translation: AAA03545.1
BT006804 mRNA Translation: AAP35450.1
AK314108 mRNA Translation: BAG36801.1
CH471061 Genomic DNA Translation: EAW80942.1
BC004100 mRNA Translation: AAH04100.1
BC071849 mRNA Translation: AAH71849.1
CCDSiCCDS9784.1
PIRiA48024
RefSeqiNP_004560.1, NM_004569.3

3D structure databases

AlphaFoldDBiQ14442
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...

Protein-protein interaction databases

BioGRIDi111301, 180 interactors
CORUMiQ14442
IntActiQ14442, 9 interactors
MINTiQ14442
STRINGi9606.ENSP00000216452

PTM databases

iPTMnetiQ14442
PhosphoSitePlusiQ14442

Genetic variation databases

BioMutaiPIGH
DMDMi27151659

Proteomic databases

EPDiQ14442
jPOSTiQ14442
MassIVEiQ14442
MaxQBiQ14442
PaxDbiQ14442
PeptideAtlasiQ14442
PRIDEiQ14442
ProteomicsDBi59991

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		24854, 152 antibodies from 22 providers

The DNASU plasmid repository

More...DNASUi		5283

Genome annotation databases

EnsembliENST00000216452.9; ENSP00000216452.4; ENSG00000100564.9
GeneIDi5283
KEGGihsa:5283
MANE-SelectiENST00000216452.9; ENSP00000216452.4; NM_004569.5; NP_004560.1
UCSCiuc001xjr.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5283
DisGeNETi5283

GeneCards: human genes, protein and diseases

More...GeneCardsi		PIGH
HGNCiHGNC:8964, PIGH
HPAiENSG00000100564, Low tissue specificity
MalaCardsiPIGH
MIMi600154, gene
618010, phenotype
neXtProtiNX_Q14442
OpenTargetsiENSG00000100564
PharmGKBiPA33295
VEuPathDBiHostDB:ENSG00000100564

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4551, Eukaryota
GeneTreeiENSGT00390000011890
InParanoidiQ14442
OMAiFVKIDHE
OrthoDBi1431299at2759
PhylomeDBiQ14442
TreeFamiTF324479

Enzyme and pathway databases

UniPathwayiUPA00196
PathwayCommonsiQ14442
ReactomeiR-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI)
SignaLinkiQ14442

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5283, 90 hits in 1072 CRISPR screens

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

More...ChiTaRSi		PIGH, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PIGH

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

More...GenomeRNAii		5283
PharosiQ14442, Tbio

Protein Ontology

More...PROi		PR:Q14442
RNActiQ14442, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100564, Expressed in left lobe of thyroid gland and 226 other tissues
ExpressionAtlasiQ14442, baseline and differential
GenevisibleiQ14442, HS

Family and domain databases

InterProiView protein in InterPro
IPR019328, GPI-GlcNAc_Trfase_PIG-H_dom
IPR044215, PIG-H
PANTHERiPTHR15231, PTHR15231, 1 hit
PfamiView protein in Pfam
PF10181, PIG-H, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiPIGH_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: Q14442
Secondary accession number(s): B2RAA4
<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: December 13, 2002
Last sequence update: November 1, 1996
Last modified: May 25, 2022
This is version 154 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 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again