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PIGO phosphatidylinositol glycan anchor biosynthesis class O [ Homo sapiens (human) ]

Gene ID: 84720, updated on 1-Jun-2020

Summary

Official Symbol
PIGOprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class Oprovided by HGNC
Primary source
HGNC:HGNC:23215
See related
Ensembl:ENSG00000165282 MIM:614730
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
HPMRS2
Summary
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in thyroid (RPKM 6.9), testis (RPKM 4.4) and 25 other tissues See more
Orthologs

Genomic context

See PIGO in Genome Data Viewer
Location:
9p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (35085496..35096601, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35087028..35096598, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene valosin containing protein Neighboring gene FA complementation group G Neighboring gene stomatin like 2 Neighboring gene family with sequence similarity 214 member B Neighboring gene GATA motif-containing MPRA enhancer 90

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

Clone Names

  • MGC3079, FLJ00135, MGC20536, DKFZp434M222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mannose-ethanolamine phosphotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mannose-ethanolamine phosphotransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GPI anchor biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
GPI anchor biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
GPI ethanolamine phosphate transferase 3
Names
phosphatidylinositol-glycan biosynthesis class O protein

NCBI Reference Sequences (RefSeq)

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_031990.1 RefSeqGene

    Range
    5011..12914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001201484.1NP_001188413.1  GPI ethanolamine phosphate transferase 3 isoform 2

    See identical proteins and their annotated locations for NP_001188413.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (2) has the same N- and C-termini but lacks an internal segment compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    BC065282, BE139632, BU727886, CR985224
    Consensus CDS
    CCDS6576.1
    UniProtKB/Swiss-Prot
    Q8TEQ8
    Related
    ENSP00000298004.5, ENST00000298004.9
    Conserved Domains (2) summary
    COG1524
    Location:42299
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    cd16023
    Location:65344
    GPI_EPT_3; GPI ethanolamine phosphate transferase 3, PIG-O
  2. NM_032634.4NP_116023.2  GPI ethanolamine phosphate transferase 3 isoform 1

    See identical proteins and their annotated locations for NP_116023.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL353795, AY358472, BC029271, BE139632, BU727886, CR985224
    Consensus CDS
    CCDS6575.1
    UniProtKB/Swiss-Prot
    Q8TEQ8
    Related
    ENSP00000367880.3, ENST00000378617.4
    Conserved Domains (2) summary
    COG1524
    Location:42299
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    cd16023
    Location:65344
    GPI_EPT_3; GPI ethanolamine phosphate transferase 3, PIG-O
  3. NM_152850.3NP_690577.2  GPI ethanolamine phosphate transferase 3 isoform 2

    See identical proteins and their annotated locations for NP_690577.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (2) has the same N- and C-termini but lacks an internal segment compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    BC036916, BE139632, BU727886, CR991745
    Consensus CDS
    CCDS6576.1
    UniProtKB/Swiss-Prot
    Q8TEQ8
    Related
    ENSP00000354678.2, ENST00000361778.6
    Conserved Domains (2) summary
    COG1524
    Location:42299
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    cd16023
    Location:65344
    GPI_EPT_3; GPI ethanolamine phosphate transferase 3, PIG-O

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    35085496..35096601 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251619.3XP_005251676.1  GPI ethanolamine phosphate transferase 3 isoform X1

    See identical proteins and their annotated locations for XP_005251676.1

    UniProtKB/Swiss-Prot
    Q8TEQ8
    Conserved Domains (2) summary
    COG1524
    Location:42299
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    cd16023
    Location:65344
    GPI_EPT_3; GPI ethanolamine phosphate transferase 3, PIG-O
  2. XM_017015223.1XP_016870712.1  GPI ethanolamine phosphate transferase 3 isoform X2

    UniProtKB/Swiss-Prot
    Q8TEQ8
    Conserved Domains (2) summary
    COG1524
    Location:42299
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    cd16023
    Location:65344
    GPI_EPT_3; GPI ethanolamine phosphate transferase 3, PIG-O
  3. XM_017015222.2XP_016870711.1  GPI ethanolamine phosphate transferase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q8TEQ8
    Conserved Domains (2) summary
    COG1524
    Location:42299
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    cd16023
    Location:65344
    GPI_EPT_3; GPI ethanolamine phosphate transferase 3, PIG-O
  4. XM_017015224.1XP_016870713.1  GPI ethanolamine phosphate transferase 3 isoform X2

    UniProtKB/Swiss-Prot
    Q8TEQ8
    Conserved Domains (2) summary
    COG1524
    Location:42299
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    cd16023
    Location:65344
    GPI_EPT_3; GPI ethanolamine phosphate transferase 3, PIG-O

RNA

  1. XR_001746390.1 RNA Sequence

  2. XR_001746391.2 RNA Sequence

  3. XR_242515.3 RNA Sequence

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