PIGP

Protein-coding gene in the species Homo sapiens

PIGP

Identifiers
Aliases| PIGP, DCRC, DCRC-S, DSCR5, DSRC, PIG-P, phosphatidylinositol glycan anchor biosynthesis class P, EIEE55
External IDs| OMIM: 605938; MGI: 1860433; HomoloGene: 32444; GeneCards: PIGP; OMA:PIGP - orthologs
| Gene location (Human)

Chr.| Chromosome 21 (human)[1]

Band| 21q22.13| Start| 37,059,170 bp[1]
End| 37,073,170 bp[1]
| Gene location (Mouse)

Chr.| Chromosome 16 (mouse)[2]

Band| 16|16 C4| Start| 94,159,622 bp[2]
End| 94,172,701 bp[2]
| RNA expression pattern

Bgee| | Human| Mouse (ortholog)

|

| Top expressed in

* corpus epididymis

* Skeletal muscle tissue of biceps brachii

* tail of epididymis

* thoracic diaphragm

* myocardium

* retinal pigment epithelium

* vastus lateralis muscle

* caput epididymis

* bronchial epithelial cell

* myocardium of left ventricle

| Top expressed in

* quadriceps femoris muscle

* muscle tissue

* muscle of thigh

* skeletal muscle tissue

* zone of skin

* esophagus

* heart

* lens

* pancreas

* mesencephalon

More reference expression data
BioGPS| |

More reference expression data
| Gene ontology

Molecular function|

* transferase activity
* phosphatidylinositol N-acetylglucosaminyltransferase activity
* glycosyltransferase activity

Cellular component|

* integral component of membrane
* endoplasmic reticulum membrane
* glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex
* membrane

Biological process|

* preassembly of GPI anchor in ER membrane
* GPI anchor biosynthetic process

Sources:Amigo / QuickGO
| Orthologs

Species| Human| Mouse
Entrez| |

51227

56176

Ensembl| |

ENSG00000185808

ENSMUSG00000022940

UniProt| |

P57054

Q9JHG1

RefSeq (mRNA)| |

NM_153681
NM_153682
NM_001320480
NM_016430

| NM_001159616
NM_001159617
NM_001159618
NM_001159619
NM_001159620

NM_019543

RefSeq (protein)| |

NP_001307409
NP_057514
NP_710148
NP_710149

| NP_001153088
NP_001153089
NP_001153090
NP_001153091
NP_001153092

NP_062416

Location (UCSC)| Chr 21: 37.06 – 37.07 Mb| Chr 16: 94.16 – 94.17 Mb
PubMed search| [3]| [4]
Wikidata
| View/Edit Human| View/Edit Mouse

|

Subunit P of phosphatidylinositol N-acetylglucosaminyltransferase is an enzyme subunit that in humans is encoded by the PIGP gene.[5][6][7]

This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[7]

## References

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185808 - Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022940 - Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Shibuya K, Kudoh J, Minoshima S, Kawasaki K, Asakawa S, Shimizu N (Jun 2000). "Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2". Biochem Biophys Res Commun. 271 (3): 693–8\. doi:10.1006/bbrc.2000.2685. PMID 10814524.
6. ^ Ferrando-Miguel R, Cheon MS, Lubec G (Jun 2004). "Protein levels of genes encoded on chromosome 21 in fetal Down Syndrome brain (Part V): overexpression of phosphatidyl-inositol-glycan class P protein (DSCR5)". Amino Acids. 26 (3): 255–61\. doi:10.1007/s00726-004-0065-9. PMID 15221505. S2CID 42311306.
7. ^ a b "Entrez Gene: PIGP phosphatidylinositol glycan anchor biosynthesis, class P".

## Further reading

[edit]

* Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7\. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
* Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903\. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
* Choi DK, Suzuki Y, Yoshimura S, et al. (2001). "Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5)". Mamm. Genome. 12 (5): 347–51\. doi:10.1007/s003350010283. PMID 11331941. S2CID 41171148.
* Watanabe R, Murakami Y, Marmor MD, et al. (2000). "Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2". EMBO J. 19 (16): 4402–11\. doi:10.1093/emboj/19.16.4402. PMC 302040. PMID 10944123.
* Togashi T, Choi DK, Taylor TD, et al. (2001). "A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2". DNA Res. 7 (3): 207–12\. doi:10.1093/dnares/7.3.207. PMID 10907851.
* Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9\. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.

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