About   Help   FAQ
Pign Gene Detail
Summary
  • Symbol
    Pign
  • Name
    phosphatidylinositol glycan anchor biosynthesis, class N
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351629
    NCBI Gene: 27392
  • Gene Overview
    MyGene.info: PIGN
Location & Maps
more
  • Sequence Map
    Chr1:105518426-105663677 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      145252 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 49.63 cM, cytoband D
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PIGN, phosphatidylinositol glycan anchor biosynthesis class N
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PIGN, phosphatidylinositol glycan anchor biosynthesis class N
    Orthology source: HomoloGene
  • Synonyms
    MCAHS, MCAHS1, MCD4, MDC4, PIG-N
  • Links
    NCBI Gene ID: 23556
    neXtProt AC: NX_O95427

  • Chr Location
    18q21.33; chr18:62044224-62187118 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 6330
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PIGN
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PIGN associations

Human Disease Mouse Models
       Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1; MCAHS1   OMIM: 614080
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    3
  • Radiation induced
    1
  • Targeted
    1
  • Genomic Mutations
    3 involving Pign
  • Incidental Mutations
Mice homozygous for an ENU-induced allele exhibit abnormal gastrulation, forebrain hypoplasia, coloboma, and microphthalmia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000048961 VEGA Gene Model | MGI Sequence Detail 145252 C57BL/6J ±  kb
transcript OTTMUST00000125080 VEGA | MGI Sequence Detail 6759 Not Applicable  
polypeptide OTTMUSP00000067902 VEGA | MGI Sequence Detail 931 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    889 from dbSNP Build 142
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000012701 GPI ethanolamine phosphate transferase 1
  • EC
  • InterPro Domains
    IPR017849 Alkaline phosphatase-like, alpha/beta/alpha
    IPR017850 Alkaline-phosphatase-like, core domain
    IPR007070 GPI ethanolamine phosphate transferase 1
    IPR017852 GPI ethanolamine phosphate transferase 1, C-terminal
    IPR002591 Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
Molecular
Reagents
less
  • All nucleic 60
    cDNA 60

    Microarray probesets 6
References
more
  • Summaries
    All 34
    Developmental Gene Expression 4
    Gene Ontology 6
    Phenotypes 11
  • Earliest
    J:50570 Hong Y, et al., Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanol-amine to the first mannose of the glycosylphosphatidylinositol. J Biol Chem. 1999 Dec 3;274(49):35099-106
  • Latest
    J:187360 McKean DM, et al., Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly. Biol Open. 2012;1(9):874-883

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/15/2016
MGI 6.04
The Jackson Laboratory