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

Gene ID: 5283, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:8964
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
mouse all
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Genomic context

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See PIGH in Genome Data Viewer
Location:
14q24.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67589306..67600301, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61796426..61807421, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (68056023..68067018, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene uncharacterized LOC105370542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924223-67924724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67924725-67925224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:67955013-67955512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67958119-67958659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67958660-67959199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5858 Neighboring gene transmembrane protein 229B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8581 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:68023408-68024607 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68025967-68026468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68026469-68026968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8583 Neighboring gene protein kinase C eta pseudogene Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H1 Neighboring gene high mobility group box 1 pseudogene 34

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. An epigenetic GPI anchor defect impairs TLR4 signaling in the B cell transdifferentiation model for primary human monocytes BLaER1. Wegner J, et al. Sci Rep, 2021 Jul 22. PMID 34294787, Free PMC Article
  2. Correction of the class H defect in glycosylphosphatidylinositol anchor biosynthesis in Ltk- cells by a human cDNA clone. Kamitani T, et al. J Biol Chem, 1993 Oct 5. PMID 8407896
  3. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Tremblay-Laganière C, et al. Clin Genet, 2021 Feb. PMID 33156547, Free PMC Article
  4. A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. Pagnamenta AT, et al. Hum Mutat, 2018 Jun. PMID 29573052, Free PMC Article
  5. Loss of the GPI-anchor in B-lymphoblastic leukemia by epigenetic downregulation of PIGH expression. Loeff FC, et al. Am J Hematol, 2019 Jan. PMID 30370942, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
    Title: PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
  2. An epigenetic GPI anchor defect impairs TLR4 signaling in the B cell transdifferentiation model for primary human monocytes BLaER1.
    Title: An epigenetic GPI anchor defect impairs TLR4 signaling in the B cell transdifferentiation model for primary human monocytes BLaER1.
  3. The GPI-anchor negative phenotype results from loss of mRNA expression of the PIGH gene, which is involved in the first step of GPI-anchor synthesis. Loss of PIGH mRNA expression within these B-ALL cells follows epigenetic silencing rather than gene mutation or deletion.
    Title: Loss of the GPI-anchor in B-lymphoblastic leukemia by epigenetic downregulation of PIGH expression.
  4. Truncation of PIGH protein was consistent with the utilization of an in-frame start-site at codon 63. In summary, we describe siblings harboring a homozygous c.1A > T variant resulting in defective GPI-anchor biogenesis and highlight the importance of exploring low-coverage variants within autozygous regions.
    Title: A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
  5. This suggests that PIGH mutations may cause a syndrome with developmental delay and autism, but without an epileptic encephalopathy, and should increase the awareness of the potentially deleterious nature of biallelic variants in this gene.
    Title: A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.
  6. Results from a study on gene expression variability markers in early-stage human embryos shows that PIGH is a putative expression variability marker for the 3-day, 8-cell embryo stage.
    Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Glycosylphosphatidylinositol biosynthesis defect 17
MedGen: C4747891 OMIM: 618010 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables catalytic activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in GPI anchor biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in GPI anchor biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in protein modification process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum TAS
Traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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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
XP_054232198.1
XP_054232199.1

NCBI Reference Sequences (RefSeq)

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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_001363694.1 → NP_001350623.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL132640, BI461097
    Consensus CDS
    CCDS86403.1
    UniProtKB/TrEMBL
    H0YLY9
    Related
    ENSP00000453394.1, ENST00000560722.5
    Conserved Domains (1) summary
    pfam10181
    Location:89 → 157
    PIG-H; GPI-GlcNAc transferase complex, PIG-H component

  2. NM_004569.5 → NP_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
    B2RAA4, Q14442
    Related
    ENSP00000216452.4, ENST00000216452.9
    Conserved Domains (1) summary
    pfam10181
    Location:89 → 158
    PIG-H; GPI-GlcNAc transferase complex, PIG-H component

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    67589306..67600301 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021371.3 → XP_016876860.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform X2

  2. XM_011536838.4 → XP_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:90 → 158
    PIG-H; GPI-GlcNAc transferase complex, PIG-H component
    pfam13900
    Location:176 → 203
    GVQW; Putative domain of unknown function

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    61796426..61807421 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376224.1 → XP_054232199.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform X2

  2. XM_054376223.1 → XP_054232198.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14442.1 GenPept UniProtKB/Swiss-Prot:Q14442

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