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

    Gene ID: 54872, updated on 5-Aug-2018

    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; Vega:OTTHUMG00000112457
    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

    Genomic context

    See PIGG in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (499200..540196)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (492989..533320)

    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 phosphodiesterase 6B Neighboring gene uncharacterized LOC101928521

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    GPI anchor biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GPI anchor biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    preassembly of GPI anchor in ER membrane TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane HDA PubMed 

    General protein information

    Preferred Names
    GPI ethanolamine phosphate transferase 2
    Names
    phosphatidylinositol-glycan biosynthesis class G 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_051621.1 RefSeqGene

      Range
      5001..45722
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127178.2NP_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, AL162084, DA548833
      Consensus CDS
      CCDS46992.1
      UniProtKB/Swiss-Prot
      Q5H8A4
      Related
      ENSP00000415203.2, OTTHUMP00000216586, ENST00000453061.6, OTTHUMT00000357494
      Conserved Domains (1) summary
      cd16024
      Location:62335
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
    2. NM_001289051.1NP_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)
      AK074715, AL162084, BC001249, DA548833
      Consensus CDS
      CCDS75081.1
      UniProtKB/Swiss-Prot
      Q5H8A4
      UniProtKB/TrEMBL
      E7EWV1, Q8NCI4
      Related
      ENSP00000424800.1, OTTHUMP00000216587, ENST00000504346.5, OTTHUMT00000357495
      Conserved Domains (1) summary
      cd16024
      Location:1246
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
    3. NM_001289052.1NP_001275981.1  GPI ethanolamine phosphate transferase 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AB162713, AL162084, BC110878, DA548833
      Consensus CDS
      CCDS75080.1
      UniProtKB/Swiss-Prot
      Q5H8A4
      Related
      ENSP00000372494.4, OTTHUMP00000216592, ENST00000383028.8, OTTHUMT00000357504
      Conserved Domains (1) summary
      cl23718
      Location:62202
      ALP_like; alkaline phosphatases and sulfatases
    4. NM_001289053.1NP_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, OTTHUMP00000216589, ENST00000509768.1, OTTHUMT00000357497
      Conserved Domains (1) summary
      cd16024
      Location:1246
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
    5. NM_001289055.1NP_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, DA548833
      UniProtKB/Swiss-Prot
      Q5H8A4
      Conserved Domains (1) summary
      cd16024
      Location:1213
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
    6. NM_001289057.1NP_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, OTTHUMP00000216590, ENST00000503111.5, OTTHUMT00000357498
      Conserved Domains (1) summary
      cd16024
      Location:1246
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G
    7. NM_001345986.1NP_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_001345987.1NP_001332916.1  GPI ethanolamine phosphate transferase 2 isoform 8

      Status: REVIEWED

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

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
    10. NM_001345989.1NP_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_001345990.1NP_001332919.1  GPI ethanolamine phosphate transferase 2 isoform 11 precursor

      Status: REVIEWED

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

      Status: REVIEWED

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

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
    14. NM_017733.4NP_060203.3  GPI ethanolamine phosphate transferase 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AK000272, AK074815, AL162084, DA548833
      Consensus CDS
      CCDS3336.1
      UniProtKB/Swiss-Prot
      Q5H8A4
      Related
      ENSP00000311750.5, OTTHUMP00000140261, ENST00000310340.9, OTTHUMT00000231928
      Conserved Domains (1) summary
      cd16024
      Location:62335
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

    RNA

    1. NR_110293.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL162084, BC144576, DA548833
    2. NR_144326.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
    3. NR_144327.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
    4. NR_144328.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
    5. NR_144329.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
    6. NR_144330.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
    7. NR_144331.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
    8. NR_144332.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
    9. NR_144333.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
    10. NR_144334.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      499200..540196
      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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