PNPLA6 (patatin like domain 6, lysophospholipase) - Rat Genome Database

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Gene: PNPLA6 (patatin like domain 6, lysophospholipase) Chlorocebus sabaeus
Analyze
Symbol: PNPLA6
Name: patatin like domain 6, lysophospholipase (Ensembl:patatin like phospholipase domain containing 6)
RGD ID: 18462384
Description: ENCODES a protein that exhibits hydrolase activity (inferred); lysophospholipase activity (inferred); INVOLVED IN angiogenesis (inferred); animal organ morphogenesis (inferred); lipid catabolic process (inferred); ASSOCIATED WITH amenorrhea (ortholog); amyotrophic lateral sclerosis (ortholog); Boucher-Neuhauser syndrome (ortholog); FOUND IN cytosol (inferred); endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: neuropathy target esterase; patatin like phospholipase domain containing 6; patatin-like phospholipase domain-containing protein 6
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: ChlSab1.1 - Green Monkey 1.1 Assembly
Position:
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.167,030,802 - 7,056,664 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl67,032,445 - 7,056,661 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666081809,119 - 837,403 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


1 to 20 of 24 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PNPLA6Green Monkeyamenorrhea  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: AmenorrheaClinVarPMID:28492532 and PMID:32870266
PNPLA6Green Monkeyamyotrophic lateral sclerosis  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosisClinVarPMID:25741868 more ...
PNPLA6Green MonkeyBoucher-Neuhauser syndrome  ISOPNPLA6 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:16199547 more ...
PNPLA6Green Monkeycerebellar ataxia  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Cerebellar ataxiaClinVarPMID:25033069 more ...
PNPLA6Green Monkeycone-rod dystrophy  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Rod-cone dystrophyClinVarPMID:18313024 more ...
PNPLA6Green MonkeyDysarthria  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: DysarthriaClinVarPMID:25033069 more ...
PNPLA6Green Monkeyfamilial hemophagocytic lymphohistiocytosis 5  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5ClinVarPMID:28492532
PNPLA6Green Monkeyfundus dystrophy  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Retinal dystrophyClinVarPMID:16199547 more ...
PNPLA6Green MonkeyGait Ataxia  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Gait ataxiaClinVarPMID:25033069 more ...
PNPLA6Green Monkeygenetic disease  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:17576681 more ...
PNPLA6Green MonkeyGordon Holmes syndrome  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndromeClinVarPMID:25741868
PNPLA6Green Monkeyhereditary spastic paraplegia  ISOPNPLA6 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:18313024 more ...
PNPLA6Green Monkeyhereditary spastic paraplegia 39  ISOPNPLA6 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:16199547 more ...
PNPLA6Green Monkeyhypogonadotropic hypogonadism 7 with or without anosmia  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmiaClinVarPMID:25033069 more ...
PNPLA6Green MonkeyKallmann syndrome  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Hypogonadism with anosmiaClinVarPMID:25741868
PNPLA6Green MonkeyLaurence-Moon syndrome  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Laurence-Moon syndromeClinVarPMID:18313024 more ...
PNPLA6Green MonkeyMarfanoid Mental Retardation Syndrome, Autosomal  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Marfanoid habitus and intellectual disabilityClinVarPMID:25741868 and PMID:28492532
PNPLA6Green Monkeymucolipidosis type IV  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Mucolipidosis type IVClinVarPMID:11030752 more ...
PNPLA6Green Monkeyneuropathy  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Peripheral neuropathyClinVarPMID:25741868 and PMID:28492532
PNPLA6Green MonkeyOliver-McFarlane syndrome  ISOPNPLA6 (Homo sapiens)8554872ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndromeClinVarPMID:18313024 more ...
1 to 20 of 24 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PNPLA6Green Monkeymotor neuron disease  ISOPNPLA6 (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTDPMID:18313024 and PMID:20603202
PNPLA6Green Monkeynervous system disease  ISOPNPLA6 (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTDPMID:8211998
PNPLA6Green Monkeypolyneuropathy  ISOPNPLA6 (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTDPMID:22819951
PNPLA6Green Monkeysick building syndrome  ISOPNPLA6 (Homo sapiens)9068941CTD Direct Evidence: marker/mechanismCTDPMID:23418070
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PNPLA6Green MonkeyBoucher-Neuhauser syndrome  ISOPNPLA6 (Homo sapiens)7240710 OMIM 
PNPLA6Green Monkeyhereditary spastic paraplegia 39  ISOPNPLA6 (Homo sapiens)7240710 OMIM 
PNPLA6Green MonkeyLaurence-Moon syndrome  ISOPNPLA6 (Homo sapiens)7240710 OMIM 
PNPLA6Green MonkeyOliver-McFarlane syndrome  ISOPNPLA6 (Homo sapiens)7240710 OMIM 


Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PNPLA6Green Monkeyangiogenesis acts_upstream_of_or_withinIEAUniProtKB:Q3TRM4 and ensembl:ENSMUSP00000106699150520179 EnsemblGO_REF:0000107
PNPLA6Green Monkeyanimal organ morphogenesis acts_upstream_of_or_withinIEAUniProtKB:Q3TRM4 and ensembl:ENSMUSP00000106699150520179 EnsemblGO_REF:0000107
PNPLA6Green Monkeylipid catabolic process involved_inIEAUniProtKB-KW:KW-0442150520179 UniProtGO_REF:0000043
PNPLA6Green Monkeylipid catabolic process involved_inIEAUniRule:UR000400242150520179 UniProtGO_REF:0000104
PNPLA6Green Monkeylipid metabolic process involved_inIEAInterPro:IPR002641150520179 InterProGO_REF:0000002
PNPLA6Green Monkeylipid metabolic process involved_inIEAUniProtKB-KW:KW-0443150520179 UniProtGO_REF:0000043
PNPLA6Green Monkeyphosphatidylcholine metabolic process involved_inIEAInterPro:IPR001423150520179 InterProGO_REF:0000002

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PNPLA6Green Monkeycytosol located_inIEAUniProtKB:A0A384DVU0 and ensembl:ENSP00000473211150520179 EnsemblGO_REF:0000107
PNPLA6Green Monkeyendoplasmic reticulum located_inIEAUniProtKB:A0A384DVU0 and ensembl:ENSP00000473211150520179 EnsemblGO_REF:0000107
PNPLA6Green Monkeyendoplasmic reticulum located_inIEAPANTHER:PTN000369215150520179 TreeGrafterGO_REF:0000118
PNPLA6Green Monkeyendoplasmic reticulum membrane located_inIEAUniProtKB-SubCell:SL-0097150520179 UniProtGO_REF:0000044
PNPLA6Green Monkeymembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
PNPLA6Green Monkeymembrane located_inIEAUniProtKB:Q3TRM4 and ensembl:ENSMUSP00000106699150520179 EnsemblGO_REF:0000107

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
PNPLA6Green Monkeyhydrolase activity enablesIEAUniRule:UR000400242150520179 UniProtGO_REF:0000104
PNPLA6Green Monkeyhydrolase activity enablesIEAUniProtKB-KW:KW-0378150520179 UniProtGO_REF:0000043
PNPLA6Green Monkeylysophospholipase activity enablesIEAARBA:ARBA00035748150520179 UniProtGO_REF:0000117
PNPLA6Green Monkeylysophospholipase activity enablesIEAPANTHER:PTN000369215150520179 TreeGrafterGO_REF:0000118
PNPLA6Green Monkeylysophospholipase activity enablesIEAInterPro:IPR001423150520179 InterProGO_REF:0000002
PNPLA6Green Monkeylysophospholipase activity enablesIEAEC:3.1.1.5150520179 UniProtGO_REF:0000003
PNPLA6Green Monkeylysophospholipase activity enablesIEAUniProtKB:Q3TRM4 and ensembl:ENSMUSP00000106699150520179 EnsemblGO_REF:0000107

PMID:22301074   PMID:30032202  



PNPLA6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.167,030,802 - 7,056,664 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl67,032,445 - 7,056,661 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666081809,119 - 837,403 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
PNPLA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38197,534,164 - 7,561,767 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl197,534,004 - 7,561,764 (+)EnsemblGRCh38hg38GRCh38
GRCh37197,599,050 - 7,626,653 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,505,043 - 7,532,652 (+)NCBINCBI36Build 36hg18NCBI36
Celera197,471,561 - 7,499,172 (+)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef197,270,194 - 7,297,789 (+)NCBIHuRef
CHM1_1197,598,956 - 7,626,567 (+)NCBICHM1_1
T2T-CHM13v2.0197,534,898 - 7,562,499 (+)NCBIT2T-CHM13v2.0
Pnpla6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3983,565,341 - 3,594,267 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl83,565,384 - 3,594,267 (+)EnsemblGRCm39 Ensembl
GRCm3883,515,235 - 3,544,267 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl83,515,384 - 3,544,267 (+)EnsemblGRCm38mm10GRCm38
MGSCv3783,515,384 - 3,544,267 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3683,515,384 - 3,544,267 (+)NCBIMGSCv36mm8
Celera83,741,358 - 3,770,284 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map81.92NCBI
Pnpla6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8126,372,284 - 6,401,632 (+)NCBIGRCr8
mRatBN7.2121,574,387 - 1,603,735 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl121,560,363 - 1,603,734 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0122,068,749 - 2,098,139 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl122,069,959 - 2,097,904 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0124,232,111 - 4,260,327 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4122,610,552 - 2,638,753 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera123,430,758 - 3,460,163 (+)NCBICelera
Cytogenetic Map12p12NCBI
Pnpla6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555631,680,818 - 1,703,287 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555631,681,112 - 1,703,287 (-)NCBIChiLan1.0ChiLan1.0
PNPLA6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22012,205,996 - 12,233,596 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11911,324,029 - 11,351,648 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0196,825,299 - 6,852,900 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1197,683,241 - 7,710,444 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl197,683,789 - 7,710,241 (+)Ensemblpanpan1.1panPan2
PNPLA6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12052,327,547 - 52,349,006 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2052,318,408 - 52,348,963 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2052,115,682 - 52,153,150 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02052,840,755 - 52,878,224 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2052,856,097 - 52,878,224 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12052,060,536 - 52,081,963 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02052,488,224 - 52,525,671 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02052,719,117 - 52,756,573 (+)NCBIUU_Cfam_GSD_1.0
Pnpla6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118213,202,585 - 213,225,879 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365884,608,963 - 4,632,183 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365884,608,856 - 4,632,198 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PNPLA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl271,577,168 - 71,602,777 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1271,577,165 - 71,602,756 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2272,031,152 - 72,056,544 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pnpla6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624828643,471 - 664,665 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624828643,552 - 664,665 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in PNPLA6
708 total Variants



ectoderm
endocrine system
hemolymphoid system
mesenchyme
mesoderm
nervous system
reproductive system
76 36 20 36 36 60 20



Ensembl Acc Id: ENSCSAT00000006522   ⟹   ENSCSAP00000004725
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1 Ensembl67,032,445 - 7,056,661 (+)Ensembl
RefSeq Acc Id: XM_007995048   ⟹   XP_007993239
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.167,032,367 - 7,056,664 (+)NCBI
Vero_WHO_p1.0NW_023666081809,119 - 835,715 (-)NCBI
Sequence:
RefSeq Acc Id: XM_007995049   ⟹   XP_007993240
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.167,032,368 - 7,056,664 (+)NCBI
Vero_WHO_p1.0NW_023666081809,119 - 835,715 (-)NCBI
Sequence:
RefSeq Acc Id: XM_007995052   ⟹   XP_007993243
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.167,030,802 - 7,056,664 (+)NCBI
Vero_WHO_p1.0NW_023666081809,119 - 837,403 (-)NCBI
Sequence:
RefSeq Acc Id: XM_007995053   ⟹   XP_007993244
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.167,030,802 - 7,056,664 (+)NCBI
Vero_WHO_p1.0NW_023666081809,119 - 837,403 (-)NCBI
Sequence:
RefSeq Acc Id: XM_037994346   ⟹   XP_037850274
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
Vero_WHO_p1.0NW_023666081809,119 - 837,283 (-)NCBI
Protein RefSeqs XP_007993239 (Get FASTA)   NCBI Sequence Viewer  
  XP_007993240 (Get FASTA)   NCBI Sequence Viewer  
  XP_007993243 (Get FASTA)   NCBI Sequence Viewer  
  XP_007993244 (Get FASTA)   NCBI Sequence Viewer  
  XP_037850274 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSCSAP00000004725
  ENSCSAP00000004725.1
RefSeq Acc Id: XP_007993243   ⟸   XM_007995052
- Peptide Label: isoform X3
RefSeq Acc Id: XP_007993244   ⟸   XM_007995053
- Peptide Label: isoform X4
RefSeq Acc Id: XP_007993239   ⟸   XM_007995048
- Peptide Label: isoform X1
RefSeq Acc Id: XP_007993240   ⟸   XM_007995049
- Peptide Label: isoform X2
- UniProtKB: A0A0D9R7Y6 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSCSAP00000004725   ⟸   ENSCSAT00000006522



1 to 23 of 23 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSCSAG00000008640 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCSAT00000006522.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.10 UniProtKB/TrEMBL
  Cytosolic phospholipase A2 catalytic domain UniProtKB/TrEMBL
InterPro Acyl_Trfase/lysoPLipase UniProtKB/TrEMBL
  cNMP-bd-like UniProtKB/TrEMBL
  cNMP-bd_dom UniProtKB/TrEMBL
  LysoPLipase_patatin_CS UniProtKB/TrEMBL
  NTE UniProtKB/TrEMBL
  PNPLA_dom UniProtKB/TrEMBL
  RmlC-like_jellyroll UniProtKB/TrEMBL
NCBI Gene PNPLA6 ENTREZGENE
PANTHER NEUROPATHY TARGET ESTERASE/SWISS CHEESE D.MELANOGASTER UniProtKB/TrEMBL
  PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6 UniProtKB/TrEMBL
Pfam cNMP_binding UniProtKB/TrEMBL
  Patatin UniProtKB/TrEMBL
PROSITE CNMP_BINDING_3 UniProtKB/TrEMBL
  PNPLA UniProtKB/TrEMBL
  UPF0028 UniProtKB/TrEMBL
SMART cNMP UniProtKB/TrEMBL
Superfamily-SCOP SSF51206 UniProtKB/TrEMBL
  SSF52151 UniProtKB/TrEMBL
UniProt A0A0D9R7Y6 ENTREZGENE, UniProtKB/TrEMBL
1 to 23 of 23 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2025-02-25 PNPLA6  patatin like domain 6, lysophospholipase  PNPLA6  patatin like phospholipase domain containing 6  Symbol and/or name change 5135510 APPROVED