PIGV | ENSG00000060642 | NCBI 55650

Details for: PIGV

Gene ID: 55650

Symbol: PIGV

Ensembl ID: ENSG00000060642

Description: phosphatidylinositol glycan anchor biosynthesis class V

Associated with

Metabolism of proteins
(R-HSA-392499)
Post-translational modification: synthesis of gpi-anchored proteins
(R-HSA-163125)
Post-translational protein modification
(R-HSA-597592)
Synthesis of glycosylphosphatidylinositol (gpi)
(R-HSA-162710)
Alpha-1,6-mannosyltransferase activity
(GO:0000009)
Endoplasmic reticulum membrane
(GO:0005789)
Glycolipid mannosyltransferase activity
(GO:0004376)
Gpi anchor biosynthetic process
(GO:0006506)
Mannosyltransferase activity
(GO:0000030)
Mannosyltransferase complex
(GO:0031501)
Membrane
(GO:0016020)
Preassembly of gpi anchor in er membrane
(GO:0016254)
Protein binding
(GO:0005515)

Other Information

Proteins

GPI mannosyltransferase 2

Genular Protein ID: 3520287968

Symbol: PIGV_HUMAN

Name: GPI mannosyltransferase 2

UniProtKB Accession Codes:

Q9NUD9 D3DPL2 Q5JYG7 Q5JYG8 Q5JYG9 Q9NX26

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 5465362

Title: Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits.

PubMed ID: 5465362

DOI: 10.1016/s0022-3476(70)80047-6

PubMed ID: 15720390

Title: Saccharomyces cerevisiae Ybr004c and its human homologue are required for addition of the second mannose during glycosylphosphatidylinositol precursor assembly.

PubMed ID: 15720390

DOI: 10.1111/j.1742-4658.2005.04551.x

PubMed ID: 15623507

Title: PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol.

PubMed ID: 15623507

DOI: 10.1074/jbc.m413867200

PubMed ID: 20802478

Title: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

PubMed ID: 20802478

DOI: 10.1038/ng.653

Sequence Information:

Length: 493
Mass: 55713
Checksum: 087AE31E51BDD519
Sequence:

MWPQDPSRKE VLRFAVSCRI LTLMLQALFN AIIPDHHAEA FSPPRLAPSG FVDQLVEGLL 
GGLSHWDAEH FLFIAEHGYL YEHNFAFFPG FPLALLVGTE LLRPLRGLLS LRSCLLISVA 
SLNFLFFMLA AVALHDLGCL VLHCPHQSFY AALLFCLSPA NVFLAAGYSE ALFALLTFSA 
MGQLERGRVW TSVLLFAFAT GVRSNGLVSV GFLMHSQCQG FFSSLTMLNP LRQLFKLMAS 
LFLSVFTLGL PFALFQYYAY TQFCLPGSAR PIPEPLVQLA VDKGYRIAEG NEPPWCFWDV 
PLIYSYIQDV YWNVGFLKYY ELKQVPNFLL AAPVAILVAW ATWTYVTTHP WLCLTLGLQR 
SKNNKTLEKP DLGFLSPQVF VYVVHAAVLL LFGGLCMHVQ VLTRFLGSST PIMYWFPAHL 
LQDQEPLLRS LKTVPWKPLA EDSPPGQKVP RNPIMGLLYH WKTCSPVTRY ILGYFLTYWL 
LGLLLHCNFL PWT

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: PIGV

Associated with

Other Information

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits. PubMed ID: 5465362

Saccharomyces cerevisiae Ybr004c and its human homologue are required for addition of the second mannose during glycosylphosphatidylinositol precursor assembly. PubMed ID: 15720390

PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol. PubMed ID: 15623507

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. PubMed ID: 20802478