Pnpla1 (patatin like phospholipase domain containing 1)

Gene: Pnpla1 (patatin like phospholipase domain containing 1) Ictidomys tridecemlineatus

Analyze

Symbol:

Pnpla1

Name:

patatin like phospholipase domain containing 1

RGD ID:

12577100

Description:

ENCODES a protein that exhibits acyltransferase activity, transferring groups other than amino-acyl groups (inferred); catalytic activity (inferred); hydrolase activity (inferred); INVOLVED IN ceramide biosynthetic process (inferred); establishment of skin barrier (inferred); keratinocyte differentiation (inferred); ASSOCIATED WITH autosomal recessive congenital ichthyosis (ortholog); autosomal recessive congenital ichthyosis 10 (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); lipid droplet (inferred); membrane (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

omega-hydroxyceramide transacylase; patatin-like phospholipase domain-containing protein 1

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	40,859,983 - 40,899,613 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936476	23,061,854 - 23,099,720 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936476	23,066,840 - 23,100,126 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal recessive congenital ichthyosis (ISO)

autosomal recessive congenital ichthyosis 10 (ISO)

genetic disease (ISO)

ichthyosis (ISO)

proteasome-associated autoinflammatory syndrome 1 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

ceramide biosynthetic process (IEA)

establishment of skin barrier (IEA)

keratinocyte differentiation (IEA)

lipid catabolic process (IEA)

lipid homeostasis (IEA)

lipid metabolic process (IEA)

omega-hydroxyceramide biosynthetic process (IEA)

triglyceride catabolic process (IEA)

Cellular Component

cytoplasm (IEA)

lipid droplet (IEA)

membrane (IEA)

Molecular Function

acyltransferase activity, transferring groups other than amino-acyl groups (IEA)

catalytic activity (IEA)

hydrolase activity (IEA)

omega-hydroxyceramide transacylase activity (IEA)

structural constituent of skin epidermis (IEA)

triglyceride lipase activity (IEA)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

Pnpla1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	40,859,983 - 40,899,613 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936476	23,061,854 - 23,099,720 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936476	23,066,840 - 23,100,126 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PNPLA1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	36,243,168 - 36,313,955 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	36,243,203 - 36,313,955 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	36,210,945 - 36,281,732 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	36,318,923 - 36,384,350 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	36,318,922 - 36,384,350	NCBI
Celera	6	37,765,485 - 37,830,961 (+)	NCBI		Celera
Cytogenetic Map	6	p21.31	NCBI
HuRef	6	35,930,494 - 35,995,688 (+)	NCBI		HuRef
CHM1_1	6	36,212,708 - 36,278,194 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	36,059,864 - 36,134,277 (+)	NCBI		T2T-CHM13v2.0

Pnpla1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	29,077,262 - 29,109,282 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	29,077,385 - 29,109,283 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	28,858,286 - 28,890,308 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	28,858,411 - 28,890,309 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	28,995,356 - 29,027,253 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	28,586,000 - 28,617,897 (+)	NCBI		MGSCv36	mm8
Celera	17	29,412,978 - 29,445,667 (+)	NCBI		Celera
Cytogenetic Map	17	A3.3	NCBI
cM Map	17	15.03	NCBI

Pnpla1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	6,919,689 - 6,953,850 (+)	NCBI		GRCr8
mRatBN7.2	20	6,917,993 - 6,952,157 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	6,917,931 - 6,952,375 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	7,629,833 - 7,663,579 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	6,991,691 - 7,025,435 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	7,473,220 - 7,506,575 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	6,101,061 - 6,143,762 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	6,102,277 - 6,143,707 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	8,355,252 - 8,393,878 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	7,139,384 - 7,173,440 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	7,139,610 - 7,172,044 (+)	NCBI
Celera	20	8,471,789 - 8,505,049 (+)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

Pnpla1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955437	4,008,545 - 4,048,033 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955437	4,008,814 - 4,047,895 (+)	NCBI	ChiLan1.0	ChiLan1.0

PNPLA1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	50,734,769 - 50,778,413 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	46,604,554 - 46,648,196 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	35,828,778 - 35,872,129 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	37,002,466 - 37,067,190 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	37,002,466 - 37,067,190 (+)	Ensembl	panpan1.1		panPan2

PNPLA1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	5,377,430 - 5,423,556 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	5,377,430 - 5,423,556 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	5,397,344 - 5,443,474 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	5,725,170 - 5,771,521 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	5,725,365 - 5,771,521 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	5,381,148 - 5,427,257 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	5,458,997 - 5,505,125 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	5,559,044 - 5,605,194 (+)	NCBI		UU_Cfam_GSD_1.0

PNPLA1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	31,988,197 - 32,025,245 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	31,987,596 - 32,025,673 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	36,888,056 - 36,925,909 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PNPLA1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	17	35,808,652 - 35,854,069 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	35,814,590 - 35,851,985 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	36,225,386 - 36,266,877 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pnpla1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624754	21,375,463 - 21,410,961 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624754	21,370,872 - 21,410,804 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005318761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040282570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010000005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSTOT00000019633 ⟹ ENSSTOP00000023435

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936476	23,061,854 - 23,099,720 (-)	Ensembl

RefSeq Acc Id:

XM_005318761 ⟹ XP_005318818

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404946	40,859,984 - 40,899,613 (+)	NCBI
SpeTri2.0	NW_004936476	23,066,840 - 23,100,126 (-)	NCBI

Sequence:

show sequence

GGCGCTGTGCAGGGAGCCGTGAACACTCCTAGGTGTTCCAGAGACAGGCAGAAGGCTGGGGAGC
CGGTGCCAGAGATGGATCCAGCCAGGCAGTGAAGCCAGCCGGAGGGTCGCCGGACCAGGACCCT
GCTCATGGATTTGGAGGACCTTCTGCACCTGATCCTGAGTCAGAGGCCCCTTTCCAACCTTTGA
GACTGCCACCTGGTAGAGTTGAACAGGCCCGGGCAGTGGCTGTCTGAACCACCCGTGGGTGCCC
GGGCCAACCCAGTAGAGACGGCCACATTCCAGGCTCTGGGCTGGCAGGGAAGCTGACAGTGAGT
TCCCACAGGGATTGGCAGGCCAGGCTGAGGCAAGCAGGCTCTGAACGGTGGTCCCTCCTCTCTG
TGGGAGGCCGGAGGCTGAGGCAATGGAAGAGCAGGTGTTCAAGGGGGACCCAGACACCCCTCAT
TCCATCTCCTTCTCGGGCAGTGGATTCCTCTCCTACTACCAGGCTGGGGTTGTGGATGCCCTTC
GGGATCTGGCGCCTCGGATGCTGGACACAGCCCATCGCTTCGCAGGAACGTCGGCGGGTGCTGT
GATAGCAGCCCTGGTCATCTGCGGGATCGAGATGGAAGTGTACCTCAGGTTCCTCAACAAGGGT
CTGGCCGAGGTGAAGAGGTTCTTCCTGGGGCCTCTGTCCCCATCCTGCAAGATGGTGCAGATGA
TGCGGCAGTTCCTGTACCAGGTCCTGCCCGAGGACTCCTACAAGTTCGCCTCCGGGAAGCTCCA
CGTGGGCCTCACCCGCTTCACGGACGGGGAGAGTGTGGTGGTCTCCGAGTACACGTCCAAGGAG
GAGCTCATCGAGGCCCTGTACTGCAGCTGCTTCGTCCCCGTGTACTGCGGCTTCATCCCCCCGA
CCTACCGCGGCGTGAGGTACATCGACGGGGGCTTCACGGGCATGCAGCCCTGCTCCTTCTGGAC
CGACTCCATCACCATCTCCACCTTCAGCGGGCAGCAGGACATCTGTCCCCGGGACTGCCCGGCC
ATCTTCCACGACTTCCGCATGTTCAACTGCTCCTTCCAGTTCTCCCTGGAGAACATCACCCGCA
TGACCCACGCGCTCTTCCCCCCGGACCTGGTGATCCTGCAGGATTACTACTACCGAGGCTACGA
GGACACAGTGATGTATTTGAGGAGGCTGAATGCTGCCTACCTGGATTCCCCGTCCAGGACAGTG
TTGTTCCCCCGCGTGGAAGTGTACTGCCAGATAGAACTCGCCCTTGGCAATGAGTGCCCTGAGC
GCAGCCAGCCGAGCCCCCCAACCCGGCGGGAGGAACCCTCAGAGCTTCGTCCCCAGGGGGCCGG
CAGGGATGGCCACCCGCCTGCACCCCAACCCGTGAAGACTCCTCAGTCCACGTGCGAGTGCCCT
GTGCAGTCACCTGCTTCTCCACCTGTCCCTACGTCCAAACCTCCACCTGCACCACCAAAGACCT
CATCACTGCCACTGTCTCCAGGTGATTTGCCACCTGTGCCACCAACCTCAGGCTCAGCTGGGCA
CTTATCACCCAGCCCAGTACCTGGCCCGCCACTGCCTTTTGTACCACCTGAGCTGTCACCTGTG
TCATCTGGGCAGCAGATACACCCATCGGGACTGCCACTCAGCTCACCACCCTCCCAGGCACACA
CATCACCCAGGCCACCCCTGGGGCCGTCAGCTGCGGGGACATCACAACCATCGCCTGGAGGCTC
TCCTTTAGCGTGGCCTGCACAACCACCTGTGGAGGAACTGGGCCCAGAACAGCCCCAAGTGGTT
GCTCCCCTCGCCTCTGCAAATCCCCAAAGTGCGGTACCTCGCGTCCTCGTCCCCGGGAAGGAAA
CCACCAGCCGGCCTCACGGGACGGAGAGCGCGGCTGAGGATGCAAACTGGGTGAACAAGGTATT
CAAGAAGAACAAACCAAAACCAAGCAGCACCCGAAAAGGCTTTCCAAGGCAACCGCGGGCCAAA
AAACCAGGCAGCAAAGTGCAGTGA

hide sequence

RefSeq Acc Id:

XM_040282570 ⟹ XP_040138504

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404946	40,859,983 - 40,892,388 (+)	NCBI

Protein Sequences


Protein RefSeqs	XP_005318818	(Get FASTA)	NCBI Sequence Viewer
	XP_040138504	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000023435.2
GenBank Protein	KAG3289328	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

XP_005318818 ⟸ XM_005318761

- Peptide Label:

isoform X2

- Sequence:

show sequence

MEEQVFKGDPDTPHSISFSGSGFLSYYQAGVVDALRDLAPRMLDTAHRFAGTSAGAVIAALVIC
GIEMEVYLRFLNKGLAEVKRFFLGPLSPSCKMVQMMRQFLYQVLPEDSYKFASGKLHVGLTRFT
DGESVVVSEYTSKEELIEALYCSCFVPVYCGFIPPTYRGVRYIDGGFTGMQPCSFWTDSITIST
FSGQQDICPRDCPAIFHDFRMFNCSFQFSLENITRMTHALFPPDLVILQDYYYRGYEDTVMYLR
RLNAAYLDSPSRTVLFPRVEVYCQIELALGNECPERSQPSPPTRREEPSELRPQGAGRDGHPPA
PQPVKTPQSTCECPVQSPASPPVPTSKPPPAPPKTSSLPLSPGDLPPVPPTSGSAGHLSPSPVP
GPPLPFVPPELSPVSSGQQIHPSGLPLSSPPSQAHTSPRPPLGPSAAGTSQPSPGGSPLAWPAQ
PPVEELGPEQPQVVAPLASANPQSAVPRVLVPGKETTSRPHGTESAAEDANWVNKVFKKNKPKP
SSTRKGFPRQPRAKKPGSKVQ

hide sequence

RefSeq Acc Id:	XP_040138504 ⟸ XM_040282570
- Peptide Label:	isoform X1
- UniProtKB:	I3NGD8 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSSTOP00000023435 ⟸ ENSSTOT00000019633

Protein Domains

PNPLA

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000026201	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000019633.2	UniProtKB/TrEMBL
Gene3D-CATH	Cytosolic phospholipase A2 catalytic domain	UniProtKB/TrEMBL
InterPro	Acyl_Trfase/lysoPLipase	UniProtKB/TrEMBL
	PLPL	UniProtKB/TrEMBL
	PNPLA_dom	UniProtKB/TrEMBL
NCBI Gene	Pnpla1	ENTREZGENE
PANTHER	OMEGA-HYDROXYCERAMIDE TRANSACYLASE	UniProtKB/TrEMBL
	PTHR12406	UniProtKB/TrEMBL
Pfam	Patatin	UniProtKB/TrEMBL
PROSITE	PNPLA	UniProtKB/TrEMBL
Superfamily-SCOP	SSF52151	UniProtKB/TrEMBL
UniProt	I3NGD8	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM