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PIGG phosphatidylinositol glycan anchor biosynthesis class G [ Homo sapiens (human) ]

Gene ID: 54872, updated on 2-Aug-2021

Summary

Official Symbol
PIGGprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class Gprovided by HGNC
Primary source
HGNC:HGNC:25985
See related
Ensembl:ENSG00000174227 MIM:616918
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
GPI7; LAS21; MRT53; PRO4405; RLGS1930
Summary
This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Ubiquitous expression in skin (RPKM 5.1), thyroid (RPKM 4.0) and 25 other tissues See more
Orthologs
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Genomic context

See PIGG in Genome Data Viewer
Location:
4p16.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (499210..540200)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (492999..533989)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene HERV-FRD provirus ancestral Env polyprotein pseudogene Neighboring gene ATP binding cassette subfamily A member 11, pseudogene Neighboring gene zinc finger protein 721 Neighboring gene HERV-FRD provirus ancestral Env polyprotein pseudogene Neighboring gene uncharacterized LOC105374338 Neighboring gene transmembrane protein 271

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

  • FLJ20265, FLJ39925, MGC131903, DKFZp434A1810, DKFZp434C1712, DKFZp434M1131

General protein information

Preferred Names
GPI ethanolamine phosphate transferase 2
Names
phosphatidylinositol-glycan biosynthesis class G 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.

Genomic

  1. NG_051621.1 RefSeqGene

    Range
    5011..46001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127178.3NP_001120650.1  GPI ethanolamine phosphate transferase 2 isoform 1

    See identical proteins and their annotated locations for NP_001120650.1

    Status: REVIEWED

    Source sequence(s)
    AB162713, AC116565, AL162084, DA548833
    Consensus CDS
    CCDS46992.1
    UniProtKB/Swiss-Prot
    Q5H8A4
    Related
    ENSP00000415203.2, ENST00000453061.7
    Conserved Domains (1) summary
    cd16024
    Location:62335
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
  2. NM_001289051.2NP_001275980.1  GPI ethanolamine phosphate transferase 2 isoform 3

    See identical proteins and their annotated locations for NP_001275980.1

    Status: REVIEWED

    Source sequence(s)
    AC116565, AK074715, AL162084, BC001249, DA548833
    Consensus CDS
    CCDS75081.1
    UniProtKB/Swiss-Prot
    Q5H8A4
    UniProtKB/TrEMBL
    E7EWV1, Q8NCI4
    Related
    ENSP00000424800.1, ENST00000504346.5
    Conserved Domains (1) summary
    cd16024
    Location:1246
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
  3. NM_001289052.2NP_001275981.1  GPI ethanolamine phosphate transferase 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AB162713, AC116565, AL162084, BC110878, DA548833
    Consensus CDS
    CCDS75080.1
    UniProtKB/Swiss-Prot
    Q5H8A4
    Related
    ENSP00000372494.4, ENST00000383028.8
    Conserved Domains (1) summary
    cl23718
    Location:62202
    ALP_like; alkaline phosphatases and sulfatases
  4. NM_001289053.2NP_001275982.1  GPI ethanolamine phosphate transferase 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    BC050262, DA548833
    Consensus CDS
    CCDS75082.1
    UniProtKB/TrEMBL
    D6RFE8
    Related
    ENSP00000421550.1, ENST00000509768.1
    Conserved Domains (1) summary
    cd16024
    Location:1246
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
  5. NM_001289055.2NP_001275984.1  GPI ethanolamine phosphate transferase 2 isoform 6

    See identical proteins and their annotated locations for NP_001275984.1

    Status: REVIEWED

    Source sequence(s)
    AK296507, BC050262
    UniProtKB/Swiss-Prot
    Q5H8A4
    Conserved Domains (1) summary
    cd16024
    Location:1213
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
  6. NM_001289057.2NP_001275986.1  GPI ethanolamine phosphate transferase 2 isoform 7

    See identical proteins and their annotated locations for NP_001275986.1

    Status: REVIEWED

    Source sequence(s)
    AK097244, BC050262, DA548833
    Consensus CDS
    CCDS75083.1
    UniProtKB/Swiss-Prot
    Q5H8A4
    Related
    ENSP00000426002.1, ENST00000503111.5
    Conserved Domains (1) summary
    cd16024
    Location:1246
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
  7. NM_001345986.2NP_001332915.1  GPI ethanolamine phosphate transferase 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
    Consensus CDS
    CCDS75081.1
    UniProtKB/TrEMBL
    E7EWV1
  8. NM_001345987.2NP_001332916.1  GPI ethanolamine phosphate transferase 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  9. NM_001345988.2NP_001332917.1  GPI ethanolamine phosphate transferase 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  10. NM_001345989.2NP_001332918.1  GPI ethanolamine phosphate transferase 2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
    Conserved Domains (2) summary
    COG1524
    Location:43311
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    cd16024
    Location:62335
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
  11. NM_001345990.2NP_001332919.1  GPI ethanolamine phosphate transferase 2 isoform 11 precursor

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  12. NM_001345991.2NP_001332920.1  GPI ethanolamine phosphate transferase 2 isoform 11 precursor

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  13. NM_001345994.2NP_001332923.1  GPI ethanolamine phosphate transferase 2 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  14. NM_017733.5NP_060203.3  GPI ethanolamine phosphate transferase 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC116565, AK000272, AK074815, AL162084, DA548833
    Consensus CDS
    CCDS3336.1
    UniProtKB/Swiss-Prot
    Q5H8A4
    Related
    ENSP00000311750.5, ENST00000310340.9
    Conserved Domains (1) summary
    cd16024
    Location:62335
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

RNA

  1. NR_110293.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC116565, AL162084, BC144576, DA548833
  2. NR_144326.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  3. NR_144327.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  4. NR_144328.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  5. NR_144329.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  6. NR_144330.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  7. NR_144331.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  8. NR_144332.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  9. NR_144333.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
  10. NR_144334.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    499210..540200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513491.2XP_011511793.1  GPI ethanolamine phosphate transferase 2 isoform X2

    Conserved Domains (1) summary
    cd16024
    Location:1213
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
  2. XM_011513490.3XP_011511792.1  GPI ethanolamine phosphate transferase 2 isoform X1

    Conserved Domains (1) summary
    cd16024
    Location:62335
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
  3. XM_011513494.3XP_011511796.1  GPI ethanolamine phosphate transferase 2 isoform X4

    Related
    ENSP00000424619.1, ENST00000506402.5
    Conserved Domains (1) summary
    cd16024
    Location:62335
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
  4. XM_011513492.1XP_011511794.1  GPI ethanolamine phosphate transferase 2 isoform X3

RNA

  1. XR_001741262.2 RNA Sequence

  2. XR_002959737.1 RNA Sequence

  3. XR_001741251.2 RNA Sequence

  4. XR_924967.3 RNA Sequence

  5. XR_924965.3 RNA Sequence

  6. XR_001741253.2 RNA Sequence

  7. XR_001741254.2 RNA Sequence

  8. XR_001741255.2 RNA Sequence

  9. XR_924972.3 RNA Sequence

  10. XR_002959738.1 RNA Sequence

  11. XR_001741261.2 RNA Sequence

  12. XR_001741258.2 RNA Sequence

  13. XR_002959736.1 RNA Sequence

  14. XR_001741248.2 RNA Sequence

  15. XR_924969.3 RNA Sequence

  16. XR_001741259.2 RNA Sequence

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