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Pitpna Gene Detail
Summary
  • Symbol
    Pitpna
  • Name
    phosphatidylinositol transfer protein, alpha
  • Synonyms
    Pitp alpha, PITPalpha, Pitpn
  • Feature Type
    protein coding gene
  • IDs
    MGI:99887
    NCBI Gene: 18738
Location & Maps
more
  • Sequence Map
    Chr11:75588097-75628804 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      40708 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 45.92 cM
  • Mapping Data
    17 experiments
Homology
more
  • Human Ortholog
    PITPNA, phosphatidylinositol transfer protein alpha
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PITPNA, phosphatidylinositol transfer protein alpha
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HEL-S-36, PI-TPalpha, PITPN, VIB1A
  • Links
    NCBI Gene ID: 5306
    neXtProt AC: NX_Q00169

  • Chr Location
    17p13.3; chr17:1517989-1562816 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pitpna mouse models

Human Disease Mouse Models
       Chylomicron Retention Disease; CMRD   OMIM: 246700 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 3 alleles in 4 genetic backgrounds
    7 phenotypes from multigenic genotypes
    29 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
    567
  • Chemically induced (other)
    1
  • Gene trapped
    561
  • Spontaneous
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Pitpna
  • Incidental Mutations
Mutations of this gene result in motor coordination abnormalities and early death.
Gene Ontology
(GO)
Classifications
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  • 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
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006217 VEGA Gene Model | MGI Sequence Detail 40708 C57BL/6J ±  kb
transcript OTTMUST00000014037 VEGA | MGI Sequence Detail 3761 Not Applicable  
polypeptide OTTMUSP00000006520 VEGA | MGI Sequence Detail 271 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    135 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 203
    Genomic 4
    cDNA 199

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-15382, MGD-MRK-16680, MGI:98924
References
more
  • Summaries
    All 58
    Diseases 1
    Gene Ontology 8
    Phenotypes 29
  • Earliest
    J:24779 Lane PW, Vibrator (vb). Mouse News Lett. 1965;32:47
  • Latest
    J:219914 Concepcion D, et al., Nxf1 Natural Variant E610G Is a Semi-dominant Suppressor of IAP-Induced RNA Processing Defects. PLoS Genet. 2015 Apr;11(4):e1005123

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory