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

Gene ID: 51227, updated on 9-Oct-2021

Summary

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
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
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Genomic context

See PIGP in Genome Data Viewer
Location:
21q22.13
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (37065364..37073071, complement)
105.20201022 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 ripply transcriptional repressor 3 Neighboring gene RNA, U6 small nuclear 696, pseudogene Neighboring gene tetratricopeptide repeat domain 3 Neighboring gene GFI1 motif-containing MPRA enhancer 103 Neighboring gene TTC3 antisense RNA 1

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

Homology

General protein information

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
NP_001307409.1
NP_057514.2
NP_710148.1
NP_710149.1
XP_016883854.1

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_001320480.2NP_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:11124
    PIG-P
  2. NM_016430.4NP_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:298
    PIG-P; PIG-P
  3. NM_153681.2NP_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
    P57054
    UniProtKB/TrEMBL
    A0A0C4DH71
    Related
    ENSP00000420037.1, ENST00000464265.5
    Conserved Domains (1) summary
    pfam08510
    Location:35148
    PIG-P; PIG-P
  4. NM_153682.3NP_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:11124
    PIG-P

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017028365.1XP_016883854.1  phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform X1

    UniProtKB/Swiss-Prot
    P57054
    Conserved Domains (1) summary
    pfam08510
    Location:298
    PIG-P; PIG-P

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.
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