Details for: PIGG

Gene ID: 54872

Symbol: PIGG

Ensembl ID: ENSG00000174227

Description: phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

Associated with

Other Information

Genular Protein ID: 1610268718

Symbol: PIGG_HUMAN

Name: GPI ethanolamine phosphate transferase 2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15632136

Title: GPI7 is the second partner of PIG-F and involved in modification of glycosylphosphatidylinositol.

PubMed ID: 15632136

DOI: 10.1074/jbc.m413755200

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 16303743

Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

PubMed ID: 16303743

DOI: 10.1093/dnares/12.2.117

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 26996948

Title: Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia.

PubMed ID: 26996948

DOI: 10.1016/j.ajhg.2016.02.007

PubMed ID: 28581210

Title: Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.

PubMed ID: 28581210

DOI: 10.1002/humu.23268

PubMed ID: 33763700

Title: Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

PubMed ID: 33763700

DOI: 10.1182/blood.2020009810

PubMed ID: 34113002

Title: PIGG variant pathogenicity assessment reveals characteristic features within 19 families.

PubMed ID: 34113002

DOI: 10.1038/s41436-021-01215-9

PubMed ID: 34535746

Title: PIGG defines the Emm blood group system.

PubMed ID: 34535746

DOI: 10.1038/s41598-021-98090-w

Sequence Information:

  • Length: 983
  • Mass: 108173
  • Checksum: 18D5DF737B000D2D
  • Sequence:
  • MRLGSGTFAT CCVAIEVLGI AVFLRGFFPA PVRSSARAEH GAEPPAPEPS AGASSNWTTL 
    PPPLFSKVVI VLIDALRDDF VFGSKGVKFM PYTTYLVEKG ASHSFVAEAK PPTVTMPRIK 
    ALMTGSLPGF VDVIRNLNSP ALLEDSVIRQ AKAAGKRIVF YGDETWVKLF PKHFVEYDGT 
    TSFFVSDYTE VDNNVTRHLD KVLKRGDWDI LILHYLGLDH IGHISGPNSP LIGQKLSEMD 
    SVLMKIHTSL QSKERETPLP NLLVLCGDHG MSETGSHGAS STEEVNTPLI LISSAFERKP 
    GDIRHPKHVQ QTDVAATLAI ALGLPIPKDS VGSLLFPVVE GRPMREQLRF LHLNTVQLSK 
    LLQENVPSYE KDPGFEQFKM SERLHGNWIR LYLEEKHSEV LFNLGSKVLR QYLDALKTLS 
    LSLSAQVAQY DIYSMMVGTV VVLEVLTLLL LSVPQALRRK AELEVPLSSP GFSLLFYLVI 
    LVLSAVHVIV CTSAESSCYF CGLSWLAAGG VMVLASALLC VIVSVLTNVL VGGNTPRKNP 
    MHPSSRWSEL DLLILLGTAG HVLSLGASSF VEEEHQTWYF LVNTLCLALS QETYRNYFLG 
    DDGEPPCGLC VEQGHDGATA AWQDGPGCDV LERDKGHGSP STSEVLRGRE KWMVLASPWL 
    ILACCRLLRS LNQTGVQWAH RPDLGHWLTS SDHKAELSVL AALSLLVVFV LVQRGCSPVS 
    KAALALGLLG VYCYRAAIGS VRFPWRPDSK DISKGIIEAR FVYVFVLGIL FTGTKDLLKS 
    QVIAADFKLK TVGLWEIYSG LVLLAALLFR PHNLPVLAFS LLIQTLMTKF IWKPLRHDAA 
    EITVMHYWFG QAFFYFQGNS NNIATVDISA GFVGLDTYVE IPAVLLTAFG TYAGPVLWAS 
    HLVHFLSSET RSGSALSHAC FCYALICSIP VFTYIVLVTS LRYHLFIWSV FSPKLLYEGM 
    HLLITAAVCV FFTAMDQTRL TQS

Genular Protein ID: 3348537882

Symbol: Q8NCI4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16303743

Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

PubMed ID: 16303743

DOI: 10.1093/dnares/12.2.117

Sequence Information:

  • Length: 894
  • Mass: 98815
  • Checksum: 5ACBE169CF33888A
  • Sequence:
  • MPYTTYLVEK GASHSFVAEA KPPTVTMPRI KALMTGSLPG FVDVIRNLNS PALLEDSVIR 
    QAKAAGKRIV FYGDETWVKL FPKHFVEYDG TTSFFVSDYT EVDNNVTRHL DKVLKRGDWD 
    ILILHYLGLD HIGHISGPNS PLIGQKLSEM DSVLMKIHTS LQSKERETPL PNLLVLCGDH 
    GMSETGSHGA SSTEEVNTPL ILISSAFERK PGDIRHPKHV QQTDVAATLA IALGLPIPKD 
    SVGSLLFPVV EGRPMREQLR FLHLNTVQLS KLLQENVPSY EKDPGFEQFK MSERLHGNWI 
    RLYLEEKHSE VLFNLGSKVL RQYLDALKTL SLSLSAQVAQ YDIYSMMVGT VVVLEVLTLL 
    LLSVPQALRR KAELEVPLSS PGFSLLFYLV ILVLSAVHVI VCTSAESSCY FCGLSWLAAG 
    GVMVLASALL CVIVSVLTNV LVGGNTPRKN PMHPSSRWSE LDLLILLGTA GHVLSLGASS 
    FVEEEHQTWY FLVNTLCLAL SQETYRNYFL GDDGEPPCGL CVEQGHDGAT AAWQDGPGCD 
    VLERDKGHGS PSTSEVLRGR EKWMVLASPW LILACCRLLR SLNQTGVQWA HRPDLGHWLT 
    SSDHKAELSV LAALSLLVVF VLVQRGCSPV SKAALALGLL GVYCYRAAIG SVRFPWRPDS 
    KDISKGIIEA RFVYVFVLGI LFTGTKDLLK SQVIAADFKL KTVGLWEIYS GLVLLAALLF 
    RPHNLPVLAF SLLIQTLMTK FIWKPLRHDA AEITVMHYWF GQAFFYFQGN SNNIATVDIS 
    AGFVGLDTYV EIPAVLLTAF GTYAGPVLWA SHLVHFLSSE TRSGSALSHA CFCYALICSI 
    PVFTYIALVT SLRYHLFIWS VFSPKLLYEG MHLLITAAVC VFFTAMDQTR LTQS

Genular Protein ID: 444554500

Symbol: E7EWV1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 894
  • Mass: 98843
  • Checksum: B77D2339CF338899
  • Sequence:
  • MPYTTYLVEK GASHSFVAEA KPPTVTMPRI KALMTGSLPG FVDVIRNLNS PALLEDSVIR 
    QAKAAGKRIV FYGDETWVKL FPKHFVEYDG TTSFFVSDYT EVDNNVTRHL DKVLKRGDWD 
    ILILHYLGLD HIGHISGPNS PLIGQKLSEM DSVLMKIHTS LQSKERETPL PNLLVLCGDH 
    GMSETGSHGA SSTEEVNTPL ILISSAFERK PGDIRHPKHV QQTDVAATLA IALGLPIPKD 
    SVGSLLFPVV EGRPMREQLR FLHLNTVQLS KLLQENVPSY EKDPGFEQFK MSERLHGNWI 
    RLYLEEKHSE VLFNLGSKVL RQYLDALKTL SLSLSAQVAQ YDIYSMMVGT VVVLEVLTLL 
    LLSVPQALRR KAELEVPLSS PGFSLLFYLV ILVLSAVHVI VCTSAESSCY FCGLSWLAAG 
    GVMVLASALL CVIVSVLTNV LVGGNTPRKN PMHPSSRWSE LDLLILLGTA GHVLSLGASS 
    FVEEEHQTWY FLVNTLCLAL SQETYRNYFL GDDGEPPCGL CVEQGHDGAT AAWQDGPGCD 
    VLERDKGHGS PSTSEVLRGR EKWMVLASPW LILACCRLLR SLNQTGVQWA HRPDLGHWLT 
    SSDHKAELSV LAALSLLVVF VLVQRGCSPV SKAALALGLL GVYCYRAAIG SVRFPWRPDS 
    KDISKGIIEA RFVYVFVLGI LFTGTKDLLK SQVIAADFKL KTVGLWEIYS GLVLLAALLF 
    RPHNLPVLAF SLLIQTLMTK FIWKPLRHDA AEITVMHYWF GQAFFYFQGN SNNIATVDIS 
    AGFVGLDTYV EIPAVLLTAF GTYAGPVLWA SHLVHFLSSE TRSGSALSHA CFCYALICSI 
    PVFTYIVLVT SLRYHLFIWS VFSPKLLYEG MHLLITAAVC VFFTAMDQTR LTQS

Genular Protein ID: 875036318

Symbol: D6RFE8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 480
  • Mass: 53020
  • Checksum: 30339DAB3FA0798E
  • Sequence:
  • MPYTTYLVEK GASHSFVAEA KPPTVTMPRI KALMTGSLPG FVDVIRNLNS PALLEDSVIR 
    QAKAAGKRIV FYGDETWVKL FPKHFVEYDG TTSFFVSDYT EVDNNVTRHL DKVLKRGDWD 
    ILILHYLGLD HIGHISGPNS PLIGQKLSEM DSVLMKIHTS LQSKERETPL PNLLVLCGDH 
    GMSETGSHGA SSTEEVNTPL ILISSAFERK PGDIRHPKHV QQTDVAATLA IALGLPIPKD 
    SVGSLLFPVV EGRPMREQLR FLHLNTVQLS KLLQENVPSY EKDPGFEQFK MSERLHGNWI 
    RLYLEEKHSE VLFNLGSKVL RQYLDALKTL SLSLSAQVAQ YDIYSMMVGT VVVLEVLTLL 
    LLSVPQALRR KAELEVPLSS PGFSLLFYLV ILVLSAVHVI VCTSAESSCY FCGLSWLAAG 
    GVMVLASALL CVIVSVLTNV LVGGNTPRKV RTAGSWECDV VLLLRLFLLF QAAFRLPDSG

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.