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PNPLA7 patatin like phospholipase domain containing 7 [ Homo sapiens (human) ]

Gene ID: 375775, updated on 21-Dec-2019

Summary

Official Symbol
PNPLA7provided by HGNC
Official Full Name
patatin like phospholipase domain containing 7provided by HGNC
Primary source
HGNC:HGNC:24768
See related
Ensembl:ENSG00000130653 MIM:612122
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NTEL1; NTE-R1; C9orf111
Summary
Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]
Expression
Ubiquitous expression in prostate (RPKM 6.3), skin (RPKM 4.2) and 24 other tissues See more
Orthologs

Genomic context

See PNPLA7 in Genome Data Viewer
Location:
9q34.3
Exon count:
38
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (137459399..137550666, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140354404..140445021, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene NADPH oxidase activator 1 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 8 Neighboring gene microRNA 7114 Neighboring gene NMDA receptor synaptonuclear signaling and neuronal migration factor Neighboring gene 9q34.3 PNPLA7 recombination region Neighboring gene mitochondrial ribosomal protein L41 Neighboring gene diphthamide biosynthesis 7 Neighboring gene Sharpr-MPRA regulatory region 4489

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31318, FLJ43070, FLJ44279

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lysophospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
patatin-like phospholipase domain-containing protein 7
NP_001092007.2
NP_689499.4
XP_006717165.1
XP_006717167.1
XP_011516966.1
XP_016870198.1

NCBI Reference Sequences (RefSeq)

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_001098537.3NP_001092007.2  patatin-like phospholipase domain-containing protein 7 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK125060, AK126267, AL365502, AL832944, DA963194
    Consensus CDS
    CCDS48070.1
    UniProtKB/Swiss-Prot
    Q6ZV29
    Related
    ENSP00000384610.1, ENST00000406427.6
    Conserved Domains (4) summary
    cd07225
    Location:9361241
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:484613
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:9411242
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:607715
    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_152286.5NP_689499.4  patatin-like phospholipase domain-containing protein 7 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AK125060, AL365502, AL832944, DA963194
    Consensus CDS
    CCDS7045.1
    UniProtKB/Swiss-Prot
    Q6ZV29
    Related
    ENSP00000277531.4, ENST00000277531.8
    Conserved Domains (2) summary
    cd07225
    Location:9111216
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    cd00038
    Location:582690
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    137459399..137550666 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014709.1XP_016870198.1  patatin-like phospholipase domain-containing protein 7 isoform X2

    Conserved Domains (4) summary
    cd07225
    Location:9031208
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:451580
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:9081209
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:574682
    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_006717104.3XP_006717167.1  patatin-like phospholipase domain-containing protein 7 isoform X2

    Conserved Domains (4) summary
    cd07225
    Location:9031208
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:451580
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:9081209
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:574682
    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_006717102.1XP_006717165.1  patatin-like phospholipase domain-containing protein 7 isoform X1

    Conserved Domains (4) summary
    cd07225
    Location:9371242
    Pat_PNPLA6_PNPLA7; Patatin-like phospholipase domain containing protein 6 and protein 7
    COG0664
    Location:485614
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    COG1752
    Location:9421243
    RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
    cd00038
    Location:608716
    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_011518664.2XP_011516966.1  patatin-like phospholipase domain-containing protein 7 isoform X3

    Conserved Domains (2) summary
    COG0664
    Location:485614
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:608716
    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_929791.3 RNA Sequence

  2. XR_929794.1 RNA Sequence

  3. XR_929793.1 RNA Sequence

  4. XR_001746292.1 RNA Sequence

  5. XR_929792.2 RNA Sequence

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