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Pitpnm1
Gene Detail
Symbol

Name
ID
Pitpnm1
phosphatidylinositol transfer protein, membrane-associated 1
MGI:1197524
Synonyms
DRES9, RdgB
Feature Type
protein coding gene
Genetic Map
Chromosome 19
3.81 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr19:4099998-4113965 bp, + strand
From VEGA annotation of GRCm38

  13968 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3608  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: Pitpnm1

Human
homologs
Human Homolog PITPNM1, phosphatidylinositol transfer protein, membrane-associated 1
NCBI Gene ID 9600
neXtProt AC  NX_O00562
Human Synonyms  DRES9, NIR2, PITPNM, Rd9, RDGB, RDGB1, RDGBA, RDGBA1
Human Chr (Location)  11q13; chr11:67491768-67505372 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Pitpnm1 interacts with 43 markers (Mir18b, Mir128-2, Mir134, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process protein transport, transport
Component cytoplasm, endoplasmic reticulum, ...
Function metal ion binding, phospholipid binding
External Resources: FuncBase
Expression
Literature Summary: (9 records)
Data Summary: Results (92)    Tissues (44)    Images (31)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 73
Northern blot 12
Western blot 6
RT-PCR 1
cDNA source data(108)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(110) cDNA(108) Primer pair(1) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000026157 (Evidence)
Ensembl Gene ModelENSMUSG00000024851 (Evidence)
Entrez Gene18739 (Evidence)
UniGene1860
DFCITC1572971, TC1610303
DoTSDT.110857181, DT.111180458, DT.55100460, DT.91306972, DT.94339073, DT.94339079, DT.97381371
NIA Mouse Gene IndexU038755
Consensus CDS ProjectCCDS37883.1
International Mouse Knockout Project StatusPitpnm1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026157 VEGA Gene Model | MGI Sequence Detail 13968 C57BL/6J ±  kb
transcript OTTMUST00000064614 VEGA | MGI Sequence Detail 4206 Not Applicable 
polypeptide OTTMUSP00000032116 VEGA | MGI Sequence Detail 1243 Not Applicable 

For the selected sequences
All sequences(101) RefSeq(12) UniProt(3)
Polymorphisms
RFLP(1) : SNPs within 2kb(58 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004177 DDHD
InterPro IPR023214 HAD-like domain
InterPro IPR013209 LNS2, Lipin/Ned1/Smp2
InterPro IPR001666 Phosphatidylinositol transfer protein
InterPro IPR023393 START-like domain
Protein Ontology PR:000012756 membrane-associated phosphatidylinositol transfer protein 1
References
(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
All references(37)
Other
accession IDs
MGI:1097685, MGI:2147812

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
10/21/2014
MGI 5.20
The Jackson Laboratory