Pnpla1 MGI Mouse Gene Detail - MGI:3617850 - patatin-like phospholipase domain containing 1

Symbol

Pnpla1
Name

patatin-like phospholipase domain containing 1

Feature Type

protein coding gene
IDs

MGI:3617850
NCBI Gene: 433091
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr17:29077385-29109283 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 15.03 cM
Mapping Data

1 experiment

SNPs within 2kb

271 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3617850	protein coding gene	Chr17:29077262-29109283 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023451	protein coding gene	Chr17:28321180-28355058 (+)
A/J	MGP_AJ_G0023409	protein coding gene	Chr17:27362062-27395620 (+)
AKR/J	MGP_AKRJ_G0023374	protein coding gene	Chr17:27580885-27616704 (+)
BALB/cJ	MGP_BALBcJ_G0023414	protein coding gene	Chr17:27648898-27683423 (+)
C3H/HeJ	MGP_C3HHeJ_G0023175	protein coding gene	Chr17:27972917-28007314 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023856	protein coding gene	Chr17:29455662-29494820 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021331	protein coding gene	Chr17:24718373-24753010 (+)
CAST/EiJ	MGP_CASTEiJ_G0022676	protein coding gene	Chr17:27955590-27989063 (+)
CBA/J	MGP_CBAJ_G0023149	protein coding gene	Chr17:30535940-30572002 (+)
DBA/2J	MGP_DBA2J_G0023280	protein coding gene	Chr17:26911692-26945221 (+)
FVB/NJ	MGP_FVBNJ_G0023250	protein coding gene	Chr17:26740824-26772782 (+)
LP/J	MGP_LPJ_G0023358	protein coding gene	Chr17:28585493-28620627 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023268	protein coding gene	Chr17:29919530-29953946 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023898	protein coding gene	Chr17:28025691-28067542 (+)
PWK/PhJ	MGP_PWKPhJ_G0022426	protein coding gene	Chr17:25739717-25772278 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022244	protein coding gene	Chr17:26039134-26075589 (+)
WSB/EiJ	MGP_WSBEiJ_G0022738	protein coding gene	Chr17:28007923-28040718 (+)

Human Ortholog

PNPLA1, patatin like phospholipase domain containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PNPLA1, patatin like phospholipase domain containing 1
Synonyms

ARCI10, dJ50J22.1
Links

HGNC:21246

NCBI Gene ID: 285848

neXtProt AC: NX_Q8N8W4

UniProt: Q8N8W4
Chr Location

6p21.31; chr6:36243168-36313955 (+) GRCh38

MGI Vertebrate Homology

Pnpla1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PNPLA1
Gene Tree

Pnpla1

Diseases

1 with Pnpla1 mouse models; 1 with human PNPLA1 associations

Human Disease

Mouse Models

autosomal recessive congenital ichthyosis 10

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

38 phenotypes from 5 alleles in 4 genetic backgrounds
9 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
Targeted

5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

28 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit neonatal lethality; shiny, red, dry, wrinkled and non-elastic skin; reduced size and weight at birth; fail to suckle; and exhibit skin defects associated with a lack of omega-O-acylceramides.

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All GO Annotations

25
GO References

7

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

727
Tissues

13
cDNA Data

10
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pnpla1

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All Sequences

37
RefSeq

8
UniProt

2
CCDS

CCDS37533.1

Ensembl

ENSMUSG00000043286 (Evidence)
NCBI Gene

433091

			Length	Strain/Species	Flank
genomic	ENSMUSG00000043286	Ensembl Gene Model \| MGI Sequence Detail	31899	C57BL/6J	± kb
transcript	ENSMUST00000056866	Ensembl \| MGI Sequence Detail	4484	Not Applicable
polypeptide	ENSMUSP00000050123	Ensembl \| MGI Sequence Detail	599	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000012941 omega-hydroxyceramide transacylase

(term hierarchy)
EC

2.3.1.296
InterPro Domains

IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase

IPR002641 Patatin-like phospholipase domain

IPR033562 Patatin-like phospholipase domain-containing protein
GlyGen

Q3V1D5 3 sites, 3 N-linked glycans (3 sites)

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All nucleic 13

cDNA 10

Primer pair 3

Microarray probesets 3

Summaries

All 36

Developmental Gene Expression 5

Diseases 1

Gene Ontology 7

Phenotypes 9
Earliest

J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
Latest

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

TSS for Pnpla1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr143479	Chr17:29077440-29077473 (+)	72 bp
Tssr143480	Chr17:29077485-29077527 (+)	121 bp
Tssr143481	Chr17:29077539-29077547 (+)	158 bp
Tssr5057	Chr17:29083720-29083721 (+)	6,336 bp
Tssr143482	Chr17:29091577-29091582 (+)	14,195 bp
Tssr143483	Chr17:29091592-29091601 (+)	14,212 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 12/17/2024 MGI 6.24