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Pign phosphatidylinositol glycan anchor biosynthesis, class N [ Mus musculus (house mouse) ]

Gene ID: 27392, updated on 11-Apr-2024

Summary

Official Symbol
Pignprovided by MGI
Official Full Name
phosphatidylinositol glycan anchor biosynthesis, class Nprovided by MGI
Primary source
MGI:MGI:1351629
See related
Ensembl:ENSMUSG00000056536 AllianceGenome:MGI:1351629
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
PIG-N; Gm20308
Summary
Predicted to enable mannose-ethanolamine phosphotransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Predicted to be located in cytosol and plasma membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in central nervous system and retina. Used to study holoprosencephaly. Human ortholog(s) of this gene implicated in multiple congenital anomalies-hypotonia-seizures syndrome 1. Orthologous to human PIGN (phosphatidylinositol glycan anchor biosynthesis class N). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in limb E14.5 (RPKM 3.0), testis adult (RPKM 2.6) and 28 other tissues See more
Orthologs
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Genomic context

See Pign in Genome Data Viewer
Location:
1 E2.1; 1 49.63 cM
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (105446147..105591466, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (105518421..105663741, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene 28403 Neighboring gene predicted gene, 57564 Neighboring gene STARR-seq mESC enhancer starr_01842 Neighboring gene 60S ribosomal protein L37a-like Neighboring gene STARR-positive B cell enhancer mm9_chr1:107527155-107527456 Neighboring gene ribosomal protein L7A pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:107559805-107559992 Neighboring gene STARR-positive B cell enhancer ABC_E988 Neighboring gene RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing Neighboring gene predicted gene 10193

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables mannose-ethanolamine phosphotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphotransferase activity, for other substituted phosphate groups TAS
Traceable Author Statement
more info
PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
GPI ethanolamine phosphate transferase 1
Names
phosphatidylinositol glycan, class N
phosphatidylinositol-glycan biosynthesis class N protein

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_013784.3NP_038812.2  GPI ethanolamine phosphate transferase 1

    See identical proteins and their annotated locations for NP_038812.2

    Status: VALIDATED

    Source sequence(s)
    AC132082, AC166354
    Consensus CDS
    CCDS15205.1
    UniProtKB/Swiss-Prot
    Q3V0S6, Q8VCC3, Q9R1S1, Q9R1S2, Q9R1S3
    UniProtKB/TrEMBL
    G3X9F1
    Related
    ENSMUSP00000139638.2, ENSMUST00000186485.7
    Conserved Domains (2) summary
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    105446147..105591466 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017321076.2XP_017176565.1  GPI ethanolamine phosphate transferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q3V0S6, Q8VCC3, Q9R1S1, Q9R1S2, Q9R1S3
    UniProtKB/TrEMBL
    G3X9F1
    Conserved Domains (2) summary
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
  2. XM_006529676.5XP_006529739.1  GPI ethanolamine phosphate transferase 1 isoform X2

    UniProtKB/TrEMBL
    A0A087WQ32, A0A087WS03
    Related
    ENSMUSP00000140020.2, ENSMUST00000187537.7
    Conserved Domains (2) summary
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
    pfam04987
    Location:431795
    PigN; Phosphatidylinositolglycan class N (PIG-N)

RNA

  1. XR_003955701.2 RNA Sequence

  2. XR_004942589.1 RNA Sequence

  3. XR_003955700.2 RNA Sequence

  4. XR_387175.4 RNA Sequence

  5. XR_387174.4 RNA Sequence