PIGZ - phosphatidylinositol glycan anchor biosynthesis class Z Gene

Also Known as SMP3; PIG-Z; GPI-MT-IV

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 80235

About PIGZ

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:196,946,356-196,968,833 (from NCBI)

This gene has 4 transcripts (splice variants) and 43 orthologues. Broad expression in colon (RPKM 5.3), brain (RPKM 1.9) and 20 other tissues.

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 biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]

PIGZ Products (1)

mRNA Protein Name
NM_025163.4 NP_079439.2 GPI mannosyltransferase 4
Molecular Function GO Annotation Evidence 参考文献 由来
enables alpha-1,2-mannosyltransferase activity IMP
IMP: Inferred from mutant phenotype
15208306 GOA
enables mannosyltransferase activity EXP
EXP: Inferred from Experiment
15208306 GOA
enables mannosyltransferase activity IGI
IGI: Inferred from genetic interaction
15208306 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in GPI anchor biosynthetic process IGI
IGI: Inferred from genetic interaction
15208306 GOA
involved in GPI anchor biosynthetic process IMP
IMP: Inferred from mutant phenotype
15208306 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
15208306 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIGZ Protein Structure

Glyco_transf_22

Glyco_transf_22: Alg9-like mannosyltransferase family (43 - 449)

  • 0
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  • 500
  • 579 a.a.
Protein Preferred Names Protein Names

GPI mannosyltransferase 4

  • GPI mannosyltransferase IV

関連疾患

Diseases Alias
Thyroid Dyshormonogenesis 5
  • TDH5

  • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 5

  • Thyroid Hormonogenesis, Genetic Defect In, 5

  • Genetic Defect In Thyroid Hormonogenesis 5

  • Chdh5

  • Congenital Hypothyroidism Due To Dyshormonogenesis Type 5

  • Genetic Defect In Thyroid Hormonogenesis Type 5

Developmental And Epileptic Encephalopathy 80
  • DEE80

  • Glycosylphosphatidylinositol Biosynthesis Defect 20

  • Gpibd20

  • Epileptic Encephalopathy, Early Infantile, 80

  • Eiee80

  • Developmental And Epileptic Encephalopathy, 80

  • Early Infantile Epileptic Encephalopathy 80

Familial Thyroid Dyshormonogenesis
  • Thyroid Dyshormonogenesis

  • Familial Dyshormonogenetic Goiter

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Mus musculus PIGZ MGD MGI:2443822
Macaca mulatta PIGZ VGNC VGNC:75899
Rattus norvegicus PIGZ RGD RGD:1307107
Bos taurus PIGZ VGNC VGNC:32882
Others PIGZ NCBI