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

Gene ID: 55650, updated on 3-Oct-2020

Summary

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
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

Genomic context

See PIGV in Genome Data Viewer
Location:
1p36.11
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (26787054..26800659)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27113739..27124894)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928728 Neighboring gene AT-rich interaction domain 1A Neighboring gene heart enhancer 10 Neighboring gene RNA, 7SL, cytoplasmic 165, pseudogene Neighboring gene zinc finger DHHC-type palmitoyltransferase 18

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

  • FLJ20477

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-1,6-mannosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
glycolipid mannosyltransferase activity TAS
Traceable Author Statement
more info
 
mannosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mannosyltransferase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
mannosyltransferase 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 IGI
Inferred from Genetic Interaction
more info
PubMed 
GPI anchor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
mannosylation IEA
Inferred from Electronic Annotation
more info
 
preassembly of GPI anchor in ER membrane TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
mannosyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
GPI mannosyltransferase 2
Names
GPI mannosyltransferase II
Ybr004c homolog
dol-P-Man dependent GPI mannosyltransferase
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)

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_028133.1 RefSeqGene

    Range
    5001..15441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001202554.2NP_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
    Q9NUD9
    Related
    ENSP00000501527.1, ENST00000674273.1
    Conserved Domains (1) summary
    pfam04188
    Location:8493
    Mannosyl_trans2; Mannosyltransferase (PIG-V)
  2. NM_001374478.1NP_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
    Related
    ENSP00000406080.2, ENST00000455364.2
    Conserved Domains (1) summary
    pfam04188
    Location:8493
    Mannosyl_trans2; Mannosyltransferase (PIG-V)
  3. NM_001374480.1NP_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
    Related
    ENSP00000501335.1, ENST00000674222.1
    Conserved Domains (1) summary
    pfam04188
    Location:8493
    Mannosyl_trans2; Mannosyltransferase (PIG-V)
  4. NM_001374481.1NP_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
    Conserved Domains (1) summary
    pfam04188
    Location:8493
    Mannosyl_trans2; Mannosyltransferase (PIG-V)
  5. NM_001374482.1NP_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
    Related
    ENSP00000363260.1, ENST00000374145.6
    Conserved Domains (1) summary
    pfam04188
    Location:8493
    Mannosyl_trans2; Mannosyltransferase (PIG-V)
  6. NM_001374483.1NP_001361412.1  GPI mannosyltransferase 2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL034380
    Related
    ENSP00000501446.1, ENST00000674335.1
    Conserved Domains (1) summary
    cl21590
    Location:1366
    PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
  7. NM_001374484.1NP_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
    Conserved Domains (1) summary
    cl21590
    Location:81284
    PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
  8. NM_001374485.1NP_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
    Conserved Domains (1) summary
    cl21590
    Location:81284
    PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
  9. NM_001374486.1NP_001361415.1  GPI mannosyltransferase 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL034380
  10. NM_017837.4NP_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
    Q9NUD9
    Related
    ENSP00000501479.1, ENST00000674202.1
    Conserved Domains (1) summary
    pfam04188
    Location:8493
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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