Pitpnm1 MGI Mouse Gene Detail - MGI:1197524 - phosphatidylinositol transfer protein, membrane-associated 1

Symbol

Pitpnm1
Name

phosphatidylinositol transfer protein, membrane-associated 1
Synonyms

DRES9, RdgB

Feature Type

protein coding gene
IDs

MGI:1197524
NCBI Gene: 18739
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr19:4150012-4163966 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 3.81 cM
Mapping Data

2 experiments

SNPs within 2kb

58 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1197524	protein coding gene	Chr19:4149998-4163966 (+)
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 (+)

Human Ortholog

PITPNM1, phosphatidylinositol transfer protein membrane associated 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PITPNM1, phosphatidylinositol transfer protein membrane associated 1
Synonyms

DRES9, NIR2, PITPNM, Rd9, RDGB, RDGB1, RDGBA, RDGBA1
Links

HGNC:9003

NCBI Gene ID: 9600

neXtProt AC: NX_O00562

UniProt: O00562
Chr Location

11q13.2; chr11:67491768-67506266 (-) GRCh38

MGI Vertebrate Homology

Pitpnm1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: PITPNM1
Gene Tree

Pitpnm1

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Phenotype Summary

8 phenotypes from 1 allele in 2 genetic backgrounds
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

5
Endonuclease-mediated

2
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

53 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

32
GO References

9

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

876
Tissues

90
cDNA Data

110
Literature Summary

11

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

99
RefSeq

12
UniProt

4
CCDS

CCDS37883.1

Ensembl

ENSMUSG00000024851 (Evidence)
NCBI Gene

18739

			Length	Strain/Species	Flank
genomic	18739	NCBI Gene Model \| MGI Sequence Detail	13955	C57BL/6J	± kb
transcript	NM_008851	RefSeq \| MGI Sequence Detail	4533	ZRU/MplStud
polypeptide	O35954	UniProt \| EBI \| MGI Sequence Detail	1243	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000012756 membrane-associated phosphatidylinositol transfer protein 1

(term hierarchy)
InterPro Domains

IPR004177 DDHD domain

IPR036412 HAD-like superfamily

IPR023214 HAD superfamily

IPR031315 LNS2/PITP

IPR001666 Phosphatidylinositol transfer protein

IPR023393 START-like domain superfamily
GlyGen

O35954 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)

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All nucleic 115

cDNA 110

Primer pair 2

Other 3

Microarray probesets 5

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MGI:1097685, MGI:2147812

Summaries

All 45

Developmental Gene Expression 11

Gene Ontology 9

Phenotypes 7
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Pitpnm1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154269	Chr19:4150000-4150083 (+)	30 bp
Tssr154270	Chr19:4150936-4150987 (+)	950 bp
Tssr154271	Chr19:4151005-4151008 (+)	995 bp
Tssr154272	Chr19:4154421-4154423 (+)	4,410 bp
Tssr154273	Chr19:4163389-4163408 (+)	13,387 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24