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PIGH phosphatidylinositol glycan anchor biosynthesis class H [ Homo sapiens (human) ]

Gene ID: 5283, updated on 1-Jun-2020

Summary

Official Symbol
PIGHprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class Hprovided by HGNC
Primary source
HGNC:HGNC:8964
See related
Ensembl:ENSG00000100564 MIM:600154
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GPI-H
Summary
This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 16.9), prostate (RPKM 14.4) and 25 other tissues See more
Orthologs

Genomic context

See PIGH in Genome Data Viewer
Location:
14q24.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (67589306..67600302, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (68048225..68067017, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370542 Neighboring gene transmembrane protein 229B Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H1 Neighboring gene uncharacterized LOC105370543 Neighboring gene protein kinase C eta pseudogene Neighboring gene high mobility group box 1 pseudogene 34

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of phosphatidylinositol glycan anchor biosynthesis, class H (PIGH) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
catalytic activity TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol N-acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
preassembly of GPI anchor in ER membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phosphatidylinositol N-acetylglucosaminyltransferase subunit H
Names
phosphatidylinositol-glycan biosynthesis, class H protein
NP_001350623.1
NP_004560.1
XP_011535140.1
XP_016876860.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050632.2 RefSeqGene

    Range
    5035..15985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363694.1NP_001350623.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL132640, BI461097
    Consensus CDS
    CCDS86403.1
    Related
    ENSP00000453394.1, ENST00000560722.5
    Conserved Domains (1) summary
    pfam10181
    Location:89157
    PIG-H; GPI-GlcNAc transferase complex, PIG-H component
  2. NM_004569.5NP_004560.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform 1

    See identical proteins and their annotated locations for NP_004560.1

    Status: REVIEWED

    Source sequence(s)
    AI633958, AL132640, L19783
    Consensus CDS
    CCDS9784.1
    UniProtKB/Swiss-Prot
    Q14442
    Related
    ENSP00000216452.4, ENST00000216452.9
    Conserved Domains (1) summary
    pfam10181
    Location:89158
    PIG-H; GPI-GlcNAc transferase complex, PIG-H component

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    67589306..67600302 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021371.2XP_016876860.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform X2

  2. XM_011536838.3XP_011535140.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform X1

    See identical proteins and their annotated locations for XP_011535140.1

    Conserved Domains (2) summary
    pfam10181
    Location:90158
    PIG-H; GPI-GlcNAc transferase complex, PIG-H component
    pfam13900
    Location:176203
    GVQW; Putative domain of unknown function
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