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    PIGS phosphatidylinositol glycan anchor biosynthesis class S [ Homo sapiens (human) ]

    Gene ID: 94005, updated on 9-Dec-2024

    Summary

    Official Symbol
    PIGSprovided by HGNC
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis class Sprovided by HGNC
    Primary source
    HGNC:HGNC:14937
    See related
    Ensembl:ENSG00000087111 MIM:610271; AllianceGenome:HGNC:14937
    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
    DEE95; PIG-S; GPIBD18
    Summary
    This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 16.8), kidney (RPKM 16.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PIGS in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28553387..28571524, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29496010..29514149, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26880405..26898542, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26834617-26835569 Neighboring gene forkhead box N1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26873952-26874789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26874790-26875626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8343 Neighboring gene unc-119 lipid binding chaperone Neighboring gene ReSE screen-validated silencer GRCh37_chr17:26897886-26898082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11933 Neighboring gene aldolase, fructose-bisphosphate C Neighboring gene sperm associated antigen 5 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:26925705-26926249

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ45226, DKFZp686K20216

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in GPI anchor biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in attachment of GPI anchor to protein IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in attachment of GPI anchor to protein NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in attachment of GPI anchor to protein TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    GPI transamidase component PIG-S
    Names
    GPI transamidase subunit
    phosphatidylinositol glycan, class S
    phosphatidylinositol-glycan biosynthesis class S protein

    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.

    mRNA and Protein(s)

    1. NM_033198.4NP_149975.1  GPI transamidase component PIG-S

      See identical proteins and their annotated locations for NP_149975.1

      Status: REVIEWED

      Source sequence(s)
      AC005726, AK075428, AW084841, BC007301
      Consensus CDS
      CCDS11235.1
      UniProtKB/Swiss-Prot
      Q6UVX6, Q96S52
      UniProtKB/TrEMBL
      A0A994J801, Q8NBL9
      Related
      ENSP00000309430.7, ENST00000308360.8
      Conserved Domains (1) summary
      pfam10510
      Location:22550
      PIG-S; Phosphatidylinositol-glycan biosynthesis class S protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      28553387..28571524 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      29496010..29514149 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)