Details for: PIGQ
Associated with
Other Information
Genular Protein ID: 2449152123
Symbol: PIGQ_HUMAN
Name: N-acetylglucosamyl transferase component GPI1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9729469
Title: Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.
PubMed ID: 9729469
DOI: 10.1042/bj3340609
PubMed ID: 9463366
Title: The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.
PubMed ID: 9463366
PubMed ID: 11157797
Title: Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
PubMed ID: 11157797
DOI: 10.1093/hmg/10.4.339
PubMed ID: 15616553
Title: The sequence and analysis of duplication-rich human chromosome 16.
PubMed ID: 15616553
DOI: 10.1038/nature03187
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: 10944123
Title: Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2.
PubMed ID: 10944123
PubMed ID: 16162815
Title: The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.
PubMed ID: 16162815
PubMed ID: 24463883
Title: Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
PubMed ID: 24463883
DOI: 10.1093/hmg/ddu030
PubMed ID: 25558065
Title: Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PubMed ID: 25558065
PubMed ID: 27513193
Title: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
PubMed ID: 27513193
DOI: 10.1038/gim.2016.95
PubMed ID: 29388939
PubMed ID: 31148362
Title: PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.
PubMed ID: 31148362
DOI: 10.1002/ajmg.a.61185
Sequence Information:
- Length: 760
- Mass: 84082
- Checksum: DBF900ADCE08DA98
- Sequence:
MVLKAFFPTC CVSTDSGLLV GRWVPEQSSA VVLAVLHFPF IPIQVKQLLA QVRQASQVGV AVLGTWCHCR QEPEESLGRF LESLGAVFPH EPWLRLCRER GGTFWSCEAT HRQAPTAPGA PGEDQVMLIF YDQRQVLLSQ LHLPTVLPDR QAGATTASTG GLAAVFDTVA RSEVLFRSDR FDEGPVRLSH WQSEGVEASI LAELARRASG PICLLLASLL SLVSAVSACR VFKLWPLSFL GSKLSTCEQL RHRLEHLTLI FSTRKAENPA QLMRKANTVA SVLLDVALGL MLLSWLHGRS RIGHLADALV PVADHVAEEL QHLLQWLMGA PAGLKMNRAL DQVLGRFFLY HIHLWISYIH LMSPFVEHIL WHVGLSACLG LTVALSLLSD IIALLTFHIY CFYVYGARLY CLKIHGLSSL WRLFRGKKWN VLRQRVDSCS YDLDQLFIGT LLFTILLFLL PTTALYYLVF TLLRLLVVAV QGLIHLLVDL INSLPLYSLG LRLCRPYRLA DKPTALQPRG AHLPPPQLWL PPQALLGRPV PQAVPWGAHL PLEAERGQAG LRELLARLAP PHGHSQPSAL PGWHQLSWRM SCALWTLLCA PEHGRPCYHT LGLEVIGSEQ MWGWPARLAA LHHWHCLPWD PLPTCCGHHG GEHSNPRCPE HCPMPTLCTQ VQRVRPPQQP QVEGWSPWGL PSGSALAVGV EGPCQDEPPS PRHPLAPSAE QHPASGGLKQ SLTPVPSGPG PSLPEPHGVY LRMFPGEVAL
Genular Protein ID: 3628813947
Symbol: B2RAU6_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 581
- Mass: 65314
- Checksum: 4315A6E114B16619
- Sequence:
MVLKAFFPTC CVSADSGLLV GRWVPEQSSA VVLAVLHFPF IPIQVKQLLA QVRQASQVGV AVLGTWCHCR QEPEESLGRF LESLGAVFPH EPWLRLCRER GGTFWSCEAT HRQAPTAPGA PGEDQVMLIF YDQRQVLLSQ LHLPTVLPDR QAGATTASTG GLAAVFDTVA RSEVLFRSDR FDEGPVRLSH WQSEGVEASI LAELARRASG PICLLLASLL SLVSAVSACR VFKLWPLSFL GSKLSTCEQL RHRLEHLTLI FSTRKAENPA QLMRKANTVA SVLLDVALGL MLLSWLHGRS RIGHLADALV PVADHVAEEL QHLLQWLMGA PAGLKMNRAL DQVLGRFFLY HIHLWISYIH LMSPFVEHIL WHVGLSACLG LTVALSLLSD IIALLTFHIY CFYVYGARLY CLKIHGLSSL WRLFRGKKWN VLRQRVDSCS YDLDQLFIGT LLFTILLFLL PTTALYYLVF TLLRLLVVAV QGLIHLLVDL INSLPLYSLG LRLCRPYRLA AGVKFRVLRH EAGRPLRLLM QINPLPYSRV VHTYRLPSCG CHPKHSWGAL CRKLFLGELI YPWRQRGDKQ D
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.