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PGAP6 post-GPI attachment to proteins 6 [ Homo sapiens (human) ]

Gene ID: 58986, updated on 7-Apr-2024

Summary

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Official Symbol
PGAP6provided by HGNC
Official Full Name
post-GPI attachment to proteins 6provided by HGNC
Primary source
HGNC:HGNC:17205
See related
Ensembl:ENSG00000129925 MIM:619342; AllianceGenome:HGNC:17205
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
M83; TMEM6; TMEM8; TMEM8A; GPI-PLA2
Summary
Predicted to enable phospholipase A2 activity. Located in extracellular exosome and lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 24.1), placenta (RPKM 22.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16p13.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (370788..386979, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (366436..382868, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (420788..431978, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene axin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:359414-359928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:359929-360443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:366745-367498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:367499-368250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:368251-369004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:374949-375556 Neighboring gene Sharpr-MPRA regulatory region 4309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:389458-390182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:391465-392016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:410874-411722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:411723-412570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:413199-413706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:413707-414213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:414214-414720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:422268-422839 Neighboring gene mitochondrial ribosomal protein L28 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:431071-431970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6916 Neighboring gene uncharacterized LOC100134368 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:440484-440661 Neighboring gene ribosomal protein L23a pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:449109-449694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:450865-451450 Neighboring gene NME/NM23 nucleoside diphosphate kinase 4 Neighboring gene 2,4-dienoyl-CoA reductase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. PGAP6, a GPI-specific phospholipase A2, has narrow substrate specificity against GPI-anchored proteins. Lee GH, et al. J Biol Chem, 2020 Oct 16. PMID 32816994, Free PMC Article
  2. Molecular cloning and chromosomal mapping of a novel five-span transmembrane protein gene, M83. Motohashi T, et al. Biochem Biophys Res Commun, 2000 Sep 16. PMID 11006113
  3. A GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTO. Lee GH, et al. J Cell Biol, 2016 Dec 5. PMID 27881714, Free PMC Article
  4. Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Palmieri M, et al. Hum Mol Genet, 2011 Oct 1. PMID 21752829
  5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Daniels RJ, et al. Hum Mol Genet, 2001 Feb 15. PMID 11157797

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PGAP6, a GPI-specific phospholipase A2, has narrow substrate specificity against GPI-anchored proteins.
    Title: PGAP6, a GPI-specific phospholipase A2, has narrow substrate specificity against GPI-anchored proteins.
  2. PGAP6 plays a critical role in Nodal signaling modulation through CRIPTO shedding.
    Title: A GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTO.
  3. TMEM8A protein localizes in lysosomes in HeLa cells
    Title: Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables phospholipase A2 activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in lysosomal membrane HDA PubMed 
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
post-GPI attachment to proteins factor 6
Names
GPI processing phospholipase A2
five-span transmembrane protein M83
post-glycosylphosphatidylinositol attachment to proteins 6
transmembrane protein 6
transmembrane protein 8 (five membrane-spanning domains)
transmembrane protein 8A
NP_067082.2
XP_047290369.1
XP_054169546.1

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_021259.3 → NP_067082.2  post-GPI attachment to proteins factor 6 precursor

    See identical proteins and their annotated locations for NP_067082.2

    Status: VALIDATED

    Source sequence(s)
    AB045292, AI678371, AL537021, AL546643, BC004276, BC021557, DB224383, Z97634
    Consensus CDS
    CCDS10407.1
    UniProtKB/Swiss-Prot
    D3DU49, Q4TT35, Q8WU24, Q96S25, Q9BR03, Q9BT97, Q9H7B9, Q9HCN3
    Related
    ENSP00000401338.2, ENST00000431232.7
    Conserved Domains (1) summary
    pfam12036
    Location:547 → 727
    DUF3522; Protein of unknown function (DUF3522)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    370788..386979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434413.1 → XP_047290369.1  post-GPI attachment to proteins factor 6 isoform X1

    UniProtKB/TrEMBL
    K4DI83
    Related
    ENSP00000250930.3, ENST00000250930.7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    366436..382868 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313571.1 → XP_054169546.1  post-GPI attachment to proteins factor 6 isoform X1

    UniProtKB/TrEMBL
    K4DI83
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HCN3.3 GenPept UniProtKB/Swiss-Prot:Q9HCN3

Gene LinkOut

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