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

Gene ID: 23556, updated on 8-Jul-2019

Summary

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 MIM:606097
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]
Expression
Ubiquitous expression in esophagus (RPKM 8.5), thyroid (RPKM 7.2) and 25 other tissues See more
Orthologs

Genomic context

See PIGN in Genome Data Viewer
Location:
18q21.33
Exon count:
33
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (62041164..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 LOC105372158 Neighboring gene ribose 5-phosphate isomerase A pseudogene 1 Neighboring gene RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing Neighboring gene TNF receptor superfamily member 11a

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
mannose-ethanolamine phosphotransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
preassembly of GPI anchor in ER membrane TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
GPI ethanolamine phosphate transferase 1
Names
MCD4 homolog
phosphatidylinositol-glycan biosynthesis class N protein

NCBI Reference Sequences (RefSeq)

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_012327.6NP_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)
    AC090354, AC090396, FP340563
    Consensus CDS
    CCDS45879.1
    UniProtKB/Swiss-Prot
    O95427
    UniProtKB/TrEMBL
    A0A024R2C3
    Related
    ENSP00000383188.2, ENST00000400334.7
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
  2. NM_176787.5NP_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)
    AC090354, AC090396, FP340563
    Consensus CDS
    CCDS45879.1
    UniProtKB/Swiss-Prot
    O95427
    UniProtKB/TrEMBL
    A0A024R2C3
    Related
    ENSP00000492233.1, ENST00000640252.2
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    62041164..62187118 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525891.1XP_011524193.1  GPI ethanolamine phosphate transferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011524193.1

    UniProtKB/TrEMBL
    A0A1W2PQA9
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
  2. XM_011525894.1XP_011524196.1  GPI ethanolamine phosphate transferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011524196.1

    UniProtKB/TrEMBL
    A0A1W2PQA9
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
  3. XM_011525893.1XP_011524195.1  GPI ethanolamine phosphate transferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011524195.1

    UniProtKB/TrEMBL
    A0A1W2PQA9
    Related
    ENSP00000491475.1, ENST00000639758.1
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
  4. XM_011525892.1XP_011524194.1  GPI ethanolamine phosphate transferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011524194.1

    UniProtKB/TrEMBL
    A0A1W2PQA9
    Related
    ENSP00000490965.1, ENST00000639902.1
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
  5. XM_011525890.1XP_011524192.1  GPI ethanolamine phosphate transferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011524192.1

    UniProtKB/TrEMBL
    A0A1W2PQA9
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
  6. XM_011525895.1XP_011524197.1  GPI ethanolamine phosphate transferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011524197.1

    UniProtKB/TrEMBL
    A0A1W2PQA9
    Related
    ENSP00000491620.1, ENST00000640540.1
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
  7. XM_017025685.1XP_016881174.1  GPI ethanolamine phosphate transferase 1 isoform X4

  8. XM_011525896.1XP_011524198.1  GPI ethanolamine phosphate transferase 1 isoform X2

    Related
    ENSP00000491811.1, ENST00000638369.1
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
  9. XM_011525889.1XP_011524191.1  GPI ethanolamine phosphate transferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011524191.1

    UniProtKB/TrEMBL
    A0A1W2PQA9
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
  10. XM_017025686.1XP_016881175.1  GPI ethanolamine phosphate transferase 1 isoform X5

    UniProtKB/TrEMBL
    A0A1W2PPR7
    Related
    ENSP00000491549.1, ENST00000638167.1
  11. XM_011525898.1XP_011524200.1  GPI ethanolamine phosphate transferase 1 isoform X3

    Related
    ENSP00000492783.1, ENST00000639174.1
    Conserved Domains (3) summary
    COG1524
    Location:7280
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    pfam04987
    Location:431884
    PigN; Phosphatidylinositolglycan class N (PIG-N)
    cd16020
    Location:40345
    GPI_EPT_1; GPI ethanolamine phosphate transferase 1; PIG-N
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