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PIGV phosphatidylinositol glycan anchor biosynthesis class V [ Homo sapiens (human) ]

Gene ID: 55650, updated on 27-Nov-2024

Summary

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Official Symbol
PIGVprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class Vprovided by HGNC
Primary source
HGNC:HGNC:26031
See related
Ensembl:ENSG00000060642 MIM:610274; AllianceGenome:HGNC:26031
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
PIG-V; HPMRS1; GPI-MT-II
Summary
This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Expression
Broad expression in testis (RPKM 19.4), thyroid (RPKM 7.7) and 25 other tissues See more
Orthologs
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Genomic context

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See PIGV in Genome Data Viewer
Location:
1p36.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26787054..26800659)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26625009..26638614)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27113545..27127150)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928728 Neighboring gene translation initiation factor IF-2-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27019176-27019690 Neighboring gene hESC enhancers GRCh37_chr1:27021339-27022275 and GRCh37_chr1:27022276-27023211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 489 Neighboring gene Sharpr-MPRA regulatory region 12508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27033907-27034406 Neighboring gene AT-rich interaction domain 1A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27048400-27048980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27048981-27049560 Neighboring gene heart enhancer 10 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:27051301-27051880 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27051881-27052460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27057943-27058472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 517 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:27098665-27099864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 519 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27114367-27115193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27130608-27131323 Neighboring gene RNA, 7SL, cytoplasmic 165, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:27152961-27153113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 523 Neighboring gene zinc finger DHHC-type palmitoyltransferase 18 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 525 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27179723-27180224 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:27181471-27181643

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. Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. Horn D, et al. Eur J Hum Genet, 2014 Jun. PMID 24129430, Free PMC Article
  2. Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability. Hirata T, et al. J Biochem, 2013 Sep. PMID 23694781
  3. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Horn D, et al. Am J Med Genet A, 2011 Aug. PMID 21739589
  4. Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. Murakami Y, et al. J Biol Chem, 2012 Feb 24. PMID 22228761, Free PMC Article
  5. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Krawitz PM, et al. Nat Genet, 2010 Oct. PMID 20802478

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data indicate that mannosyltransferases PIGV mutations are the major cause of hyperphosphatasia-mental retardation syndrome (HPMRS) which displays a broad clinical variability regarding associated malformations and growth patterns.
    Title: Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
  2. PIGV is the rate-limiting enzyme in GPI biosynthesis under limited dolicholphosphate mannose availability.
    Title: Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability.
  3. Hyperphosphatasia resulted from secretion of ALP, a GPI-anchored protein normally expressed on the cell surface, into serum due to PIGV deficiency.
    Title: Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.
  4. novel compound heterozygous mutations in the PIGV gene c.467G>A and c.1022C>A and a homozygous mutation c.1022C>A in hyperphosphatasia-mental retardation syndrome
    Title: Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
  5. PIGV mutations are associated with hyperphosphatasia mental retardation syndrome.
    Title: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
  6. PIG-V is the second mannosyltransferase in GPI anchor biosynthesis.
    Title: PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol.
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

Associated conditions

Description Tests
Hyperphosphatasia with intellectual disability syndrome 1
MedGen: C4551502 OMIM: 239300 GeneReviews: Not available
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EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20477

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-1,6-mannosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables glycolipid mannosyltransferase activity TAS
Traceable Author Statement
more info
  
enables mannosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables mannosyltransferase activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables mannosyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in GPI anchor biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in GPI anchor biosynthetic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in GPI anchor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in GPI anchor biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
part_of mannosyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
GPI mannosyltransferase 2
Names
GPI mannosyltransferase II
Ybr004c homolog
dol-P-Man dependent GPI mannosyltransferase
dol-P-Man dependent GPI mannosyltransferase II
NP_001189483.1
NP_001361407.1
NP_001361409.1
NP_001361410.1
NP_001361411.1
NP_001361412.1
NP_001361413.1
NP_001361414.1
NP_001361415.1
NP_060307.2

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_028133.2 RefSeqGene

    Range
    5898..18607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001202554.2 → NP_001189483.1  GPI mannosyltransferase 2 isoform a

    See identical proteins and their annotated locations for NP_001189483.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-6 all encode the same isoform (a).
    Source sequence(s)
    AL034380
    Consensus CDS
    CCDS287.1
    UniProtKB/Swiss-Prot
    D3DPL2, Q5JYG7, Q5JYG8, Q5JYG9, Q9NUD9, Q9NX26
    UniProtKB/TrEMBL
    A0A8I5KPJ1
    Related
    ENSP00000501527.1, ENST00000674273.1
    Conserved Domains (1) summary
    pfam04188
    Location:8 → 493
    Mannosyl_trans2; Mannosyltransferase (PIG-V)

  2. NM_001374478.1 → NP_001361407.1  GPI mannosyltransferase 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).
    Source sequence(s)
    AL034380
    Consensus CDS
    CCDS287.1
    UniProtKB/Swiss-Prot
    D3DPL2, Q5JYG7, Q5JYG8, Q5JYG9, Q9NUD9, Q9NX26
    UniProtKB/TrEMBL
    A0A8I5KPJ1
    Related
    ENSP00000406080.2, ENST00000455364.2
    Conserved Domains (1) summary
    pfam04188
    Location:8 → 493
    Mannosyl_trans2; Mannosyltransferase (PIG-V)

  3. NM_001374480.1 → NP_001361409.1  GPI mannosyltransferase 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).
    Source sequence(s)
    AL034380
    Consensus CDS
    CCDS287.1
    UniProtKB/Swiss-Prot
    D3DPL2, Q5JYG7, Q5JYG8, Q5JYG9, Q9NUD9, Q9NX26
    UniProtKB/TrEMBL
    A0A8I5KPJ1
    Related
    ENSP00000501335.1, ENST00000674222.1
    Conserved Domains (1) summary
    pfam04188
    Location:8 → 493
    Mannosyl_trans2; Mannosyltransferase (PIG-V)

  4. NM_001374481.1 → NP_001361410.1  GPI mannosyltransferase 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).
    Source sequence(s)
    AL034380
    Consensus CDS
    CCDS287.1
    UniProtKB/Swiss-Prot
    D3DPL2, Q5JYG7, Q5JYG8, Q5JYG9, Q9NUD9, Q9NX26
    UniProtKB/TrEMBL
    A0A8I5KPJ1
    Conserved Domains (1) summary
    pfam04188
    Location:8 → 493
    Mannosyl_trans2; Mannosyltransferase (PIG-V)

  5. NM_001374482.1 → NP_001361411.1  GPI mannosyltransferase 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).
    Source sequence(s)
    AL034380
    Consensus CDS
    CCDS287.1
    UniProtKB/Swiss-Prot
    D3DPL2, Q5JYG7, Q5JYG8, Q5JYG9, Q9NUD9, Q9NX26
    UniProtKB/TrEMBL
    A0A8I5KPJ1
    Related
    ENSP00000363260.1, ENST00000374145.6
    Conserved Domains (1) summary
    pfam04188
    Location:8 → 493
    Mannosyl_trans2; Mannosyltransferase (PIG-V)

  6. NM_001374483.1 → NP_001361412.1  GPI mannosyltransferase 2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL034380
    Consensus CDS
    CCDS90894.1
    UniProtKB/TrEMBL
    A0A6I8PU65
    Related
    ENSP00000501446.1, ENST00000674335.1
    Conserved Domains (1) summary
    cl21590
    Location:1 → 366
    PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

  7. NM_001374484.1 → NP_001361413.1  GPI mannosyltransferase 2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 9, encodes isoform c.
    Source sequence(s)
    AL034380
    Consensus CDS
    CCDS90892.1
    UniProtKB/TrEMBL
    A0A8I5KQ29, B4DWP9
    Related
    ENSP00000509240.1, ENST00000686194.1
    Conserved Domains (1) summary
    cl21590
    Location:81 → 284
    PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

  8. NM_001374485.1 → NP_001361414.1  GPI mannosyltransferase 2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variant 8, encodes isoform c.
    Source sequence(s)
    AL034380
    Consensus CDS
    CCDS90892.1
    UniProtKB/TrEMBL
    A0A8I5KQ29, B4DWP9
    Conserved Domains (1) summary
    cl21590
    Location:81 → 284
    PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

  9. NM_001374486.1 → NP_001361415.1  GPI mannosyltransferase 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL034380
    Consensus CDS
    CCDS90893.1
    UniProtKB/TrEMBL
    A0A8I5KRV8
    Related
    ENSP00000509280.1, ENST00000693629.1
    Conserved Domains (1) summary
    cl21590
    Location:12 → 119
    PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase

  10. NM_017837.4 → NP_060307.2  GPI mannosyltransferase 2 isoform a

    See identical proteins and their annotated locations for NP_060307.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-6 all encode the same isoform (a).
    Source sequence(s)
    AL034380
    Consensus CDS
    CCDS287.1
    UniProtKB/Swiss-Prot
    D3DPL2, Q5JYG7, Q5JYG8, Q5JYG9, Q9NUD9, Q9NX26
    UniProtKB/TrEMBL
    A0A8I5KPJ1
    Related
    ENSP00000501479.1, ENST00000674202.1
    Conserved Domains (1) summary
    pfam04188
    Location:8 → 493
    Mannosyl_trans2; Mannosyltransferase (PIG-V)

RNA

  1. NR_164651.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL034380

  2. NR_164652.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL034380

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    26787054..26800659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    26625009..26638614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NUD9.1 GenPept UniProtKB/Swiss-Prot:Q9NUD9

Gene LinkOut

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