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Pitpnm1 Gene Detail
Summary
  • Symbol
    Pitpnm1
  • Name
    phosphatidylinositol transfer protein, membrane-associated 1
  • Synonyms
    DRES9, RdgB
  • Feature Type
    protein coding gene
  • IDs
    MGI:1197524
    NCBI Gene: 18739
  • Gene Overview
    MyGene.info: PITPNM1
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:4099998-4113965 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 3.81 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    58 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1197524
protein coding gene Chr19:4099998-4113965 (.)
129S1/SvImJ MGP_129S1SvImJ_G0024646
protein coding gene Chr19:932902-946861 (+)
A/J MGP_AJ_G0024612
protein coding gene Chr19:901994-915962 (+)
AKR/J MGP_AKRJ_G0024585
protein coding gene Chr19:926174-940139 (+)
BALB/cJ MGP_BALBcJ_G0024612
protein coding gene Chr19:890128-904088 (+)
C3H/HeJ MGP_C3HHeJ_G0024380
protein coding gene Chr19:920364-934325 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025060
protein coding gene Chr19:967795-981758 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022489
protein coding gene Chr19:843251-857895 (+)
CAST/EiJ MGP_CASTEiJ_G0023852
protein coding gene Chr19:928133-942079 (+)
CBA/J MGP_CBAJ_G0024351
protein coding gene Chr19:1028997-1042957 (+)
DBA/2J MGP_DBA2J_G0024479
protein coding gene Chr19:860977-874936 (+)
FVB/NJ MGP_FVBNJ_G0024446
protein coding gene Chr19:869256-883227 (+)
LP/J MGP_LPJ_G0024565
protein coding gene Chr19:928155-942127 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024476
protein coding gene Chr19:978039-992003 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025107
protein coding gene Chr19:920954-934945 (+)
PWK/PhJ MGP_PWKPhJ_G0023598
protein coding gene Chr19:911844-926044 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023403
protein coding gene Chr19:904079-917949 (+)
WSB/EiJ MGP_WSBEiJ_G0023914
protein coding gene Chr19:907879-923998 (+)



Homology
more
  • Human Ortholog
    PITPNM1, phosphatidylinositol transfer protein membrane associated 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PITPNM1, phosphatidylinositol transfer protein membrane associated 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DRES9, NIR2, PITPNM, Rd9, RDGB, RDGB1, RDGBA, RDGBA1
  • Links
    NCBI Gene ID: 9600
    neXtProt AC: NX_O00562
    UniProt: O00562

  • Chr Location
    11q13.2; chr11:67491760-67505391 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 2 genetic backgrounds
    5 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.
Mice homozygous for a knock-out allele exhibit male-specific decrease in circulating cholesterol and circulating calcium levels and female-specific decreased leukocyte cell numbers and a slight increase in auditory brainstem response.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell 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
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18739 NCBI Gene Model | MGI Sequence Detail 13968 C57BL/6J ±  kb
    transcript NM_008851 RefSeq | MGI Sequence Detail 4533 C57BL/6  
    polypeptide O35954 UniProt | EBI | MGI Sequence Detail 1243 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 112
      cDNA 109
      Primer pair 1
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1097685, MGI:2147812
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 9
      Gene Ontology 7
      Phenotypes 5
    • Earliest
      J:41770 Chang JT, et al., Mammalian homolog of Drosophila retinal degeneration B rescues the mutant fly phenotype. J Neurosci. 1997 Aug 1;17(15):5881-90
    • Latest
      J:207051 Carlisle FA, et al., Pitpnm1 is expressed in hair cells during development but is not required for hearing. Neuroscience. 2013 Jun 29;248C:620-625

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory