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

    Gene ID: 5283, updated on 10-Dec-2024

    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; 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
    NEW
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    Genomic context

    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

    Expression

    • 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

    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

    General gene information

    Gene Ontology Provided by GOA

    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
    XP_054232198.1
    XP_054232199.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

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