PIGZ (phosphatidylinositol glycan anchor biosynthesis class Z (Gwada blood group))

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene miRNA Gene ontology Other IDs Protein Pathways Related genes Diseases linked via similar genes

Gene

• Entrez ID: 80235
• Gene name: Phosphatidylinositol glycan anchor biosynthesis class Z (Gwada blood group)
• Gene symbol: PIGZ
• Synonyms (NCBI Gene): GPI-MT-IV, PIG-Z, SMP3
• Chromosome: 3
• Chromosome location: 3q29
• Summary: The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthe

miRNA Show/Hide all (29)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1233788	hsa-miR-1207-5p	CLIP-seq
MIRT1233789	hsa-miR-1267	CLIP-seq
MIRT1233790	hsa-miR-1304	CLIP-seq
MIRT1233791	hsa-miR-1827	CLIP-seq
MIRT1233792	hsa-miR-1909	CLIP-seq
MIRT1233793	hsa-miR-4763-3p	CLIP-seq
MIRT1233794	hsa-miR-550a	CLIP-seq
MIRT1233795	hsa-miR-940	CLIP-seq
MIRT2068818	hsa-miR-151-5p	CLIP-seq
MIRT2068819	hsa-miR-151b	CLIP-seq
MIRT2068820	hsa-miR-28-5p	CLIP-seq
MIRT2068821	hsa-miR-3139	CLIP-seq
MIRT2068822	hsa-miR-3154	CLIP-seq
MIRT2068823	hsa-miR-3160-5p	CLIP-seq
MIRT2068824	hsa-miR-3689d	CLIP-seq
MIRT2068825	hsa-miR-377	CLIP-seq
MIRT2068826	hsa-miR-4436b-3p	CLIP-seq
MIRT2068827	hsa-miR-4690-3p	CLIP-seq
MIRT2068828	hsa-miR-513c	CLIP-seq
MIRT2068829	hsa-miR-514b-5p	CLIP-seq
MIRT2068830	hsa-miR-627	CLIP-seq
MIRT2068831	hsa-miR-708	CLIP-seq
MIRT2068832	hsa-miR-873	CLIP-seq
MIRT2068833	hsa-miR-924	CLIP-seq
MIRT2295875	hsa-miR-1324	CLIP-seq
MIRT2068826	hsa-miR-4436b-3p	CLIP-seq
MIRT2295876	hsa-miR-552	CLIP-seq
MIRT2295877	hsa-miR-671-5p	CLIP-seq
MIRT2068832	hsa-miR-873	CLIP-seq

Gene ontology (GO) Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000026	Function	Alpha-1,2-mannosyltransferase activity	IBA
GO:0000026	Function	Alpha-1,2-mannosyltransferase activity	IMP	15208306
GO:0000030	Function	Mannosyltransferase activity	EXP	15208306
GO:0000030	Function	Mannosyltransferase activity	IGI	15208306
GO:0005783	Component	Endoplasmic reticulum	IDA	15208306
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	IGI	15208306
GO:0006506	Process	GPI anchor biosynthetic process	IMP	15208306
GO:0006506	Process	GPI anchor biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA

Other IDs

• MIM: 611671
• HGNC: 30596
• e!Ensembl: ENSG00000119227

Protein

• UniProt ID: Q86VD9
• Protein name: GPI alpha-1,2-mannosyltransferase 4 (EC 2.4.1.-) (GPI mannosyltransferase IV) (GPI-MT-IV) (Phosphatidylinositol-glycan biosynthesis class Z protein) (PIG-Z) (SMP3 homolog) (hSMP3)
• Protein function: Alpha-1,2-mannosyltransferase that catalyzes the transfer of the fourth mannose, via an alpha-1,2 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to an alpha-D-Man-(1->2)-alpha-D-Man-(1->6)-2-PEtn-alpha-D-Man-(1->4)-alpha-D-GlcN-(1->6)-(1-ra
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03901	Glyco_transf_22	37 → 473	Alg9-like mannosyltransferase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed at low level, with highest level in brain and colon. {ECO:0000269|PubMed:15208306}.
• Sequence:

  MQICGSSVASVAAGTSFQVLGPVCWQQLDLKMAVRVLWGGLSLLRVLWCLLPQTGYVHPD
  EFFQSPEVMAEDILGVQAARPWEFYPSSSCRSVLFPLLISGSTFWLLRLWEELGPWPGLV
  SGYALLVGPRLLLTALSFALDGAVYHLAPPMGADRWNALALLSGSYVTLVFYTRTFSNTI
  EGLLFTWLLVLVSSHVTWGPTRKEPAPGPRWRSWLLGGIVAAGFFNRPTFLAFAVVPLYL
  WGTRGATNPGLKSLTREALVLLPGAALTAAVFVATDSWYFSSPATSRNLVLTPVNFLHYN
  LNPQNLARHGTHARLTHLAVNGFLLFGVLHAQALQAAWQRLQVGLQASAQMGLLRALGAR
  SLLSSPRSYLLLLYFMPLALLSAFSHQEARFLIPLLVPLVLLCSPQTQPVPWKGTVVLFN
  ALGALLFGCLHQGGLVPGLEYLEQVVHAPVLPSTPTHYTLLFTHTYMPPRHLLHLPGLGA
  PVEVVDMGGTEDWALCQTLKSFTRQPACQVAGGPWLCRLFVVTPGTTRRAVEKCSFPFKN
  ETLLFPHLTLEDPPALSSLLSGAWRDHLSLHIVELGEET

• Sequence length: 579

Pathways

KEGG Pathway	Reactome Pathway
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis	Synthesis of glycosylphosphatidylinositol (GPI)
Metabolic pathways

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PIGN 2 shared pathwaysGlycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) Related via 2 shared pathways including Glycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI). PIGW 2 shared pathwaysGlycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) Related via 2 shared pathways including Glycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI). PIGP 2 shared pathwaysGlycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) Related via 2 shared pathways including Glycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI). PIGA 2 shared pathwaysGlycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) Related via 2 shared pathways including Glycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI). PIGC 2 shared pathwaysGlycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI) Related via 2 shared pathways including Glycosylphosphatidylinositol (GPI)-anchor biosynthesis, Synthesis of glycosylphosphatidylinositol (GPI).

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PIGN	0	[]	2	["Glycosylphosphatidylinositol (GPI)-anchor biosynthesis","Synthesis of glycosylphosphatidylinositol (GPI)"]	0	[]
PIGW	0	[]	2	["Glycosylphosphatidylinositol (GPI)-anchor biosynthesis","Synthesis of glycosylphosphatidylinositol (GPI)"]	0	[]
PIGP	0	[]	2	["Glycosylphosphatidylinositol (GPI)-anchor biosynthesis","Synthesis of glycosylphosphatidylinositol (GPI)"]	0	[]
PIGA	0	[]	2	["Glycosylphosphatidylinositol (GPI)-anchor biosynthesis","Synthesis of glycosylphosphatidylinositol (GPI)"]	0	[]
PIGC	0	[]	2	["Glycosylphosphatidylinositol (GPI)-anchor biosynthesis","Synthesis of glycosylphosphatidylinositol (GPI)"]	0	[]

Diseases Linked via Similar Genes

Global developmental delay Linked via 2 of 5 related genesPIGW, PIGC Glycosylphosphatidylinositol biosynthesis defect Linked via 2 of 5 related genesPIGW, PIGC Congenital disorder of glycosylation Linked via 2 of 5 related genesPIGW, PIGC Developmental and epileptic encephalopathy Linked via 2 of 5 related genesPIGP, PIGA Endocrine system disease Linked via 1 of 5 related genesPIGN

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Global developmental delay	2	["PIGW","PIGC"]
Glycosylphosphatidylinositol biosynthesis defect	2	["PIGW","PIGC"]
Congenital disorder of glycosylation	2	["PIGW","PIGC"]
Developmental and epileptic encephalopathy	2	["PIGP","PIGA"]
Endocrine system disease	1	["PIGN"]