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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
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:75588097-75628804 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 45.92 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    135 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99887
protein coding gene Chr11:75588079-75628804 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018718
protein coding gene Chr11:76349433-76391683 (+)
A/J MGP_AJ_G0018684
protein coding gene Chr11:73505951-73546474 (+)
AKR/J MGP_AKRJ_G0018654
protein coding gene Chr11:75729801-75773688 (+)
BALB/cJ MGP_BALBcJ_G0018658
protein coding gene Chr11:73877526-73925819 (+)
C3H/HeJ MGP_C3HHeJ_G0018471
protein coding gene Chr11:75747666-75789975 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019109
protein coding gene Chr11:78760654-78804820 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016744
protein coding gene Chr11:70520650-70559893 (+)
CAST/EiJ MGP_CASTEiJ_G0018025
protein coding gene Chr11:76145699-76187664 (+)
CBA/J MGP_CBAJ_G0018441
protein coding gene Chr11:82205798-82249337 (+)
DBA/2J MGP_DBA2J_G0018550
protein coding gene Chr11:73109359-73150165 (+)
FVB/NJ MGP_FVBNJ_G0018540
protein coding gene Chr11:72671875-72712647 (+)
LP/J MGP_LPJ_G0018621
protein coding gene Chr11:76930994-76974339 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018566
protein coding gene Chr11:82750532-82794206 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019149
protein coding gene Chr11:75942326-75988106 (+)
PWK/PhJ MGP_PWKPhJ_G0017796
protein coding gene Chr11:73809477-73852747 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017587
protein coding gene Chr11:75498688-75540198 (+)
WSB/EiJ MGP_WSBEiJ_G0018078
protein coding gene Chr11:75753060-75799658 (+)



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
    UniProt: Q00169

  • Chr Location
    17p13.3; chr17:1517989-1562816 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pitpna mouse models

Human Disease Mouse Models
      
IDs
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
less
  • Phenotype Summary
    43 phenotypes from 3 alleles in 5 genetic backgrounds
    6 phenotypes from multigenic genotypes
    30 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mutations of this gene result in motor coordination abnormalities and early death.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000017781 Ensembl Gene Model | MGI Sequence Detail 40708 C57BL/6J ±  kb
transcript ENSMUST00000179521 Ensembl | MGI Sequence Detail 3727 Not Applicable  
polypeptide ENSMUSP00000137510 Ensembl | MGI Sequence Detail 272 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 204
    Genomic 4
    cDNA 200

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-15382, MGD-MRK-16680, MGI:98924
References
more
  • Summaries
    All 71
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 8
    Phenotypes 30
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:265911 Capitano M, et al., Phosphatidylinositol transfer proteins regulate megakaryocyte TGF-beta1 secretion and hematopoiesis in mice. Blood. 2018 Sep 6;132(10):1027-1038

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
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last database update
11/05/2019
MGI 6.14
The Jackson Laboratory