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

    Gene ID: 5283, updated on 10-Dec-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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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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