Pitpna MGI Mouse Gene Detail - MGI:99887 - phosphatidylinositol transfer protein, alpha

Symbol

Pitpna
Name

phosphatidylinositol transfer protein, alpha
Synonyms

Pitp alpha, PITPalpha, Pitpn

Feature Type

protein coding gene
IDs

MGI:99887
NCBI Gene: 18738
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr11:75478923-75519630 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 45.92 cM
Mapping Data

17 experiments

SNPs within 2kb

843 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_99887	protein coding gene	Chr11:75478889-75519630 (+)
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 (+)

Human Ortholog

PITPNA, phosphatidylinositol transfer protein alpha

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PITPNA, phosphatidylinositol transfer protein alpha
Synonyms

HEL-S-36, PI-TPalpha, PITPN, VIB1A
Links

HGNC:9001

NCBI Gene ID: 5306

neXtProt AC: NX_Q00169

UniProt: Q00169
Chr Location

17p13.3; chr17:1517718-1562792 (-) GRCh38

MGI Vertebrate Homology

Pitpna stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PITPNA
Gene Tree

Pitpna

Diseases

1 with Pitpna mouse models

Human Disease

Mouse Models

chylomicron retention disease

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

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Phenotype Summary

44 phenotypes from 3 alleles in 5 genetic backgrounds
6 phenotypes from multigenic genotypes
35 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

552
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

541
Spontaneous

1
Targeted

5
Genomic Mutations

2 involving Pitpna
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

37 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutations of this gene result in motor coordination abnormalities and early death.

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All GO Annotations

34
GO References

11

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

708
Tissues

1
cDNA Data

199
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pitpna

ZFIN pitpnaa

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All Sequences

75
RefSeq

4
UniProt

6
CCDS

CCDS25052.1

Ensembl

ENSMUSG00000017781 (Evidence)
NCBI Gene

18738

			Length	Strain/Species	Flank
genomic	ENSMUSG00000017781	Ensembl Gene Model \| MGI Sequence Detail	40708	C57BL/6J	± kb
transcript	ENSMUST00000143219	Ensembl \| MGI Sequence Detail	3761	Not Applicable
polypeptide	ENSMUSP00000115723	Ensembl \| MGI Sequence Detail	271	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000012753 phosphatidylinositol transfer protein alpha isoform

(term hierarchy)
PDB

1KCM
InterPro Domains

IPR001666 Phosphatidylinositol transfer protein

IPR023393 START-like domain superfamily

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All nucleic 204

Genomic 4

cDNA 200

Microarray probesets 4

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MGD-MRK-15382, MGD-MRK-16680, MGI:98924

Summaries

All 78

Developmental Gene Expression 1

Diseases 1

Gene Ontology 11

Phenotypes 35
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

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

TSS for Pitpna:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr102991	Chr11:75478890-75478977 (+)	11 bp
Tssr102992	Chr11:75478979-75479003 (+)	68 bp
Tssr102993	Chr11:75485736-75485747 (+)	6,819 bp
Tssr102994	Chr11:75486950-75486972 (+)	8,038 bp
Tssr102995	Chr11:75486976-75486988 (+)	8,059 bp
Tssr102996	Chr11:75489059-75489091 (+)	10,152 bp
Tssr102997	Chr11:75489100-75489128 (+)	10,191 bp
Tssr102998	Chr11:75489721-75489733 (+)	10,804 bp
Tssr102999	Chr11:75492305-75492326 (+)	13,393 bp
Tssr103000	Chr11:75498708-75498721 (+)	19,792 bp
Tssr103001	Chr11:75503530-75503540 (+)	24,612 bp
Tssr103002	Chr11:75505870-75505873 (+)	26,949 bp
Tssr103003	Chr11:75510347-75510364 (+)	31,433 bp
Tssr103004	Chr11:75511486-75511508 (+)	32,574 bp
Tssr103005	Chr11:75511520-75511538 (+)	32,606 bp
Tssr103006	Chr11:75517117-75517155 (+)	38,213 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)
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