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PIGN phosphatidylinositol glycan anchor biosynthesis class N [ Homo sapiens (human) ]

Gene ID: 23556, updated on 8-May-2016
Official Symbol
PIGNprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class Nprovided by HGNC
Primary source
HGNC:HGNC:8967
See related
Ensembl:ENSG00000197563 HPRD:12085; MIM:606097; Vega:OTTHUMG00000180098
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MCD4; MDC4; MCAHS; PIG-N; MCAHS1
Summary
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
Orthologs
Location:
18q21.33
Exon count:
33
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 18 NC_000018.10 (62044224..62187118, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (59711457..59854289, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372159 Neighboring gene uncharacterized LOC105372158 Neighboring gene ribose 5-phosphate isomerase A pseudogene 1 Neighboring gene KIAA1468 Neighboring gene tumor necrosis factor receptor superfamily member 11a

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC26427

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mannose-ethanolamine phosphotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
phosphotransferase activity, for other substituted phosphate groups TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
preassembly of GPI anchor in ER membrane TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
GPI ethanolamine phosphate transferase 1
Names
MCD4 homolog
phosphatidylinositol glycan anchor biosynthesis, class N
phosphatidylinositol-glycan biosynthesis class N protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033144.1 RefSeqGene

    Range
    5001..147835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012327.5NP_036459.1  GPI ethanolamine phosphate transferase 1

    See identical proteins and their annotated locations for NP_036459.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AF109219, AL137607, BC028363, BM830623, BQ023276, BU739970, DB239067
    Consensus CDS
    CCDS45879.1
    UniProtKB/Swiss-Prot
    O95427
    UniProtKB/TrEMBL
    A0A024R2C3
    Related
    ENSP00000383188, OTTHUMP00000263336, ENST00000400334, OTTHUMT00000449760
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:430884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  2. NM_176787.4NP_789744.1  GPI ethanolamine phosphate transferase 1

    See identical proteins and their annotated locations for NP_789744.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer variant. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AL137607, BC028363, BM830623, BQ023276, BU739970, DB239067
    Consensus CDS
    CCDS45879.1
    UniProtKB/Swiss-Prot
    O95427
    UniProtKB/TrEMBL
    A0A024R2C3
    Related
    ENSP00000350263, OTTHUMP00000263333, ENST00000357637, OTTHUMT00000449757
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:430884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p2 Primary Assembly

    Range
    62044224..62187118 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525891.1XP_011524193.1  

    See identical proteins and their annotated locations for XP_011524193.1

    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:430884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  2. XM_011525894.1XP_011524196.1  

    See identical proteins and their annotated locations for XP_011524196.1

    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:430884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  3. XM_011525893.1XP_011524195.1  

    See identical proteins and their annotated locations for XP_011524195.1

    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:430884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  4. XM_011525892.1XP_011524194.1  

    See identical proteins and their annotated locations for XP_011524194.1

    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:430884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  5. XM_011525890.1XP_011524192.1  

    See identical proteins and their annotated locations for XP_011524192.1

    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:430884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  6. XM_011525895.1XP_011524197.1  

    See identical proteins and their annotated locations for XP_011524197.1

    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:430884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  7. XM_011525897.1XP_011524199.1  

    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:410864
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  8. XM_011525896.1XP_011524198.1  

    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:430884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  9. XM_011525889.1XP_011524191.1  

    See identical proteins and their annotated locations for XP_011524191.1

    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:430884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  10. XM_011525898.1XP_011524200.1  

    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:430884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cl21476
    Location:46267
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 Alternate CHM1_1.1

    Range
    59707055..59849802 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)