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    PIGP phosphatidylinositol glycan anchor biosynthesis class P [ Homo sapiens (human) ]

    Gene ID: 51227, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PIGPprovided by HGNC
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis class Pprovided by HGNC
    Primary source
    HGNC:HGNC:3046
    See related
    Ensembl:ENSG00000185808 MIM:605938; AllianceGenome:HGNC:3046
    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
    DCRC; DSRC; DEE55; DSCR5; PIG-P; DCRC-S; EIEE55
    Summary
    This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in fat (RPKM 11.1), adrenal (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    21q22.13
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (37065364..37073071, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (35447555..35455253, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38437664..38445371, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38414477-38414978 Neighboring gene RNA, U6 small nuclear 696, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13296 Neighboring gene Sharpr-MPRA regulatory region 5899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13298 Neighboring gene tetratricopeptide repeat domain 3 Neighboring gene GFI1 motif-containing MPRA enhancer 103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38519638-38520138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18443 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:38567734-38568933 Neighboring gene TTC3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38579468-38580304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18444 Neighboring gene RNA, 7SL, cytoplasmic 678, pseudogene Neighboring gene Down syndrome critical region 9

    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
    • 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. Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome. Martín-Grau C, et al. Clin Genet, 2023 Aug. PMID 37125481
    2. Protein levels of genes encoded on chromosome 21 in fetal Down Syndrome brain (Part V): overexpression of phosphatidyl-inositol-glycan class P protein (DSCR5). Ferrando-Miguel R, et al. Amino Acids, 2004 Jun. PMID 15221505
    3. A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2. Togashi T, et al. DNA Res, 2000 Jun 30. PMID 10907851
    4. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. Johnstone DL, et al. Hum Mol Genet, 2017 May 1. PMID 28334793
    5. Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2. Shibuya K, et al. Biochem Biophys Res Commun, 2000 May 19. PMID 10814524

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
      Title: Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Results in mouse suggest that this is the only gene from the Down Syndrome Critical Region expressed in the developing tongue and that the encoded protein may be involved in pathophysiology of tongue malformation seen in Down syndrome.
      Title: Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5).
    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
    Developmental and epileptic encephalopathy, 55
    MedGen: C4539843 OMIM: 617599 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)

    Genotypes

    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
    contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity IDA
    Inferred from Direct Assay
    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 GPI anchor biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 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 P
    Names
    Down syndrome critical region gene 5
    Down syndrome critical region protein 5
    Down syndrome critical region protein C
    phosphatidylinositol glycan, class P
    phosphatidylinositol-glycan biosynthesis class P protein
    phosphatidylinositol-n-acetylglucosaminyltranferase subunit
    phosphatidylinositol-n-acetylglucosaminyltranferase subunit P
    NP_001307409.1
    NP_057514.2
    NP_710148.1
    NP_710149.1

    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.

    mRNA and Protein(s)

    1. NM_001320480.2 → NP_001307409.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice donor site at a 5' exon, compared to variant 1. Variants 2 and 5 encode the same protein (isoform 2).
      Source sequence(s)
      AB035744, AI127387, BE275469, DB449102
      Consensus CDS
      CCDS13650.1
      UniProtKB/Swiss-Prot
      P57054
      Related
      ENSP00000382053.1, ENST00000399102.5
      Conserved Domains (1) summary
      pfam08510
      Location:11 → 124
      PIG-P

    2. NM_016430.4 → NP_057514.2  phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (3) that has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB035744, AF216305, AI127387
      Consensus CDS
      CCDS82670.1
      UniProtKB/Swiss-Prot
      P57054
      Related
      ENSP00000382049.1, ENST00000399098.5
      Conserved Domains (1) summary
      pfam08510
      Location:2 → 98
      PIG-P; PIG-P

    3. NM_153681.2 → NP_710148.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 1

      See identical proteins and their annotated locations for NP_710148.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB035745, AI127387, AP001429
      Consensus CDS
      CCDS13649.1
      UniProtKB/Swiss-Prot
      A0A0C4DH71, B2RB18, B2RE99, B5BU92, D3DSG7, J3KR75, P57054, Q53Y28, Q96KI1, Q9NZA6
      Related
      ENSP00000420037.1, ENST00000464265.5
      Conserved Domains (1) summary
      pfam08510
      Location:35 → 148
      PIG-P; PIG-P

    4. NM_153682.3 → NP_710149.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2

      See identical proteins and their annotated locations for NP_710149.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and initiates translation from a downstream start codon, compared to variant 1. The encoded protein (isoform 2) has a shorter N-terminus compared to isoform 1. Variants 2 and 5 encode the same protein (isoform 2).
      Source sequence(s)
      AB037162, AI127387, BE275469
      Consensus CDS
      CCDS13650.1
      UniProtKB/Swiss-Prot
      P57054
      Related
      ENSP00000353719.3, ENST00000360525.9
      Conserved Domains (1) summary
      pfam08510
      Location:11 → 124
      PIG-P

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      37065364..37073071 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      35447555..35455253 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_028352.1: Suppressed sequence

      Description
      NR_028352.1: This RefSeq was removed because it is now thought that this transcript does encode a protein.

    2. NR_131189.1: Suppressed sequence

      Description
      NR_131189.1: This RefSeq was removed because it is primarily UTR sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P57054.4 GenPept UniProtKB/Swiss-Prot:P57054

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