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Pnpla6 patatin-like phospholipase domain containing 6 [ Mus musculus (house mouse) ]

Gene ID: 50767, updated on 11-Jun-2024

Summary

Official Symbol
Pnpla6provided by MGI
Official Full Name
patatin-like phospholipase domain containing 6provided by MGI
Primary source
MGI:MGI:1354723
See related
Ensembl:ENSMUSG00000004565 AllianceGenome:MGI:1354723
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Nte; MSws
Summary
Enables lysophospholipase activity. Acts upstream of or within angiogenesis and animal organ morphogenesis. Located in membrane. Is expressed in several structures, including brain; cranial nerve; epithelium; extraembryonic component; and genitourinary system. Human ortholog(s) of this gene implicated in Boucher-Neuhauser syndrome; Laurence-Moon syndrome; Oliver-McFarlane syndrome; and hereditary spastic paraplegia 39. Orthologous to human PNPLA6 (patatin like phospholipase domain containing 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 16.7), colon adult (RPKM 15.6) and 28 other tissues See more
Orthologs
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Genomic context

See Pnpla6 in Genome Data Viewer
Location:
8 A1.1; 8 1.92 cM
Exon count:
36
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (3565341..3594267)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (3515235..3544267)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene zinc finger protein 358 Neighboring gene mucolipin 1 Neighboring gene STARR-positive B cell enhancer ABC_E2258 Neighboring gene STARR-seq mESC enhancer starr_20589 Neighboring gene STARR-seq mESC enhancer starr_20590 Neighboring gene STARR-seq mESC enhancer starr_20592 Neighboring gene ribosomal protein S23, retrogene 1 Neighboring gene ribosomal protein S23, pseudogene 2 Neighboring gene calmodulin regulated spectrin-associated protein family, member 3 Neighboring gene STARR-seq mESC enhancer starr_20594

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (3)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables carboxylic ester hydrolase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables lysophospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables lysophospholipase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables lysophospholipase activity ISO
Inferred from Sequence Orthology
more info
 
enables phosphatidyl phospholipase B activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within animal organ morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylcholine metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
patatin-like phospholipase domain-containing protein 6
Names
Swiss-cheese
neuropathy target esterase
NP_001116290.2
NP_001346050.1
NP_001346051.1
NP_001346052.1
NP_001346053.1
NP_001365880.1
NP_001365881.1
NP_001365882.1
NP_001365883.1
NP_001365884.1
NP_056616.2
XP_006508888.3
XP_006508890.1
XP_006508891.1
XP_006508892.1
XP_006508894.1
XP_006508895.1
XP_036010046.1
XP_036010047.1
XP_036010048.1
XP_036010049.1
XP_036010050.1
XP_036010051.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001122818.3NP_001116290.2  patatin-like phospholipase domain-containing protein 6 isoform 1

    See identical proteins and their annotated locations for NP_001116290.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC170806
    Consensus CDS
    CCDS85487.1
    UniProtKB/TrEMBL
    A0A140LI54
    Related
    ENSMUSP00000146680.2, ENSMUST00000208002.2
    Conserved Domains (2) summary
    cd07225
    Location:9341239
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:606714
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  2. NM_001359121.2NP_001346050.1  patatin-like phospholipase domain-containing protein 6 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variant 9, encodes isoform 3.
    Source sequence(s)
    AC170806
    Conserved Domains (2) summary
    cd07225
    Location:9121217
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:584692
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  3. NM_001359122.2NP_001346051.1  patatin-like phospholipase domain-containing protein 6 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC170806
    Conserved Domains (2) summary
    cd07225
    Location:9381243
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:610718
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  4. NM_001359123.2NP_001346052.1  patatin-like phospholipase domain-containing protein 6 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC170806
    Conserved Domains (2) summary
    cd07225
    Location:9481253
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:620728
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  5. NM_001359124.2NP_001346053.1  patatin-like phospholipase domain-containing protein 6 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC170806
    Conserved Domains (2) summary
    cd07225
    Location:9481253
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:620728
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  6. NM_001378951.1NP_001365880.1  patatin-like phospholipase domain-containing protein 6 isoform 13

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) encodes a protein (isoform 13) that is the same length as isoform 1 but has a distinct peptide sequence.
    Source sequence(s)
    AC170806
    Conserved Domains (2) summary
    cd07225
    Location:9341239
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:606714
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  7. NM_001378952.1NP_001365881.1  patatin-like phospholipase domain-containing protein 6 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variant 3, encodes isoform 3.
    Source sequence(s)
    AC170806
    Conserved Domains (2) summary
    cd07225
    Location:9121217
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:584692
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  8. NM_001378953.1NP_001365882.1  patatin-like phospholipase domain-containing protein 6 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC170806
    UniProtKB/Swiss-Prot
    Q3TRM4, Q7TQD6, Q9R114
    Conserved Domains (2) summary
    cd07225
    Location:9441249
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:616724
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  9. NM_001378954.1NP_001365883.1  patatin-like phospholipase domain-containing protein 6 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC170806
    Conserved Domains (2) summary
    cd07225
    Location:9111216
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:583691
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  10. NM_001378955.1NP_001365884.1  patatin-like phospholipase domain-containing protein 6 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC170806
    UniProtKB/TrEMBL
    A0A140LHU9
    Related
    ENSMUSP00000146555.2, ENSMUST00000207941.2
    Conserved Domains (2) summary
    cd07225
    Location:9441210
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:616724
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  11. NM_015801.3NP_056616.2  patatin-like phospholipase domain-containing protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC170806
    Consensus CDS
    CCDS40206.1
    UniProtKB/Swiss-Prot
    Q3TRM4
    Related
    ENSMUSP00000004681.8, ENSMUST00000004681.14
    Conserved Domains (4) summary
    cd07225
    Location:9161221
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:141283
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:9211205
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:588696
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

RNA

  1. NR_152827.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC170806

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    3565341..3594267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006508831.5XP_006508894.1  patatin-like phospholipase domain-containing protein 6 isoform X3

    See identical proteins and their annotated locations for XP_006508894.1

    UniProtKB/TrEMBL
    A0A140LI54
    Conserved Domains (2) summary
    cd07225
    Location:9341239
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:606714
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  2. XM_006508827.5XP_006508890.1  patatin-like phospholipase domain-containing protein 6 isoform X2

    See identical proteins and their annotated locations for XP_006508890.1

    Conserved Domains (2) summary
    cd07225
    Location:9381243
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:610718
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  3. XM_036154158.1XP_036010051.1  patatin-like phospholipase domain-containing protein 6 isoform X6

    Conserved Domains (2) summary
    cd07225
    Location:9031208
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:575683
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  4. XM_036154155.1XP_036010048.1  patatin-like phospholipase domain-containing protein 6 isoform X3

    UniProtKB/TrEMBL
    A0A140LI54
    Conserved Domains (2) summary
    cd07225
    Location:9341239
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:606714
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  5. XM_036154153.1XP_036010046.1  patatin-like phospholipase domain-containing protein 6 isoform X2

    Conserved Domains (2) summary
    cd07225
    Location:9381243
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:610718
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  6. XM_036154157.1XP_036010050.1  patatin-like phospholipase domain-containing protein 6 isoform X5

    Conserved Domains (2) summary
    cd07225
    Location:9271232
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:599707
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  7. XM_006508825.5XP_006508888.3  patatin-like phospholipase domain-containing protein 6 isoform X1

    Conserved Domains (2) summary
    cd07225
    Location:9401245
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:612720
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  8. XM_006508828.1XP_006508891.1  patatin-like phospholipase domain-containing protein 6 isoform X2

    See identical proteins and their annotated locations for XP_006508891.1

    Conserved Domains (2) summary
    cd07225
    Location:9381243
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:610718
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  9. XM_006508829.2XP_006508892.1  patatin-like phospholipase domain-containing protein 6 isoform X2

    See identical proteins and their annotated locations for XP_006508892.1

    Conserved Domains (2) summary
    cd07225
    Location:9381243
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:610718
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  10. XM_036154154.1XP_036010047.1  patatin-like phospholipase domain-containing protein 6 isoform X2

    Conserved Domains (2) summary
    cd07225
    Location:9381243
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:610718
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  11. XM_036154156.1XP_036010049.1  patatin-like phospholipase domain-containing protein 6 isoform X4

    Conserved Domains (2) summary
    cd07225
    Location:9231228
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:595703
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  12. XM_006508832.5XP_006508895.1  patatin-like phospholipase domain-containing protein 6 isoform X7

    Conserved Domains (2) summary
    cd07225
    Location:8891194
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:561669
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

RNA

  1. XR_004934859.1 RNA Sequence

  2. XR_378664.5 RNA Sequence

  3. XR_003947314.2 RNA Sequence

    Related
    ENSMUST00000208851.2