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PNPLA1 patatin like phospholipase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 285848, updated on 11-Jun-2021

Summary

Official Symbol
PNPLA1provided by HGNC
Official Full Name
patatin like phospholipase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:21246
See related
Ensembl:ENSG00000180316 MIM:612121
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARCI10; dJ50J22.1
Summary
The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
Expression
Biased expression in skin (RPKM 6.2), kidney (RPKM 1.5) and 2 other tissues See more
Orthologs
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Genomic context

See PNPLA1 in Genome Data Viewer
Location:
6p21.31
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (36242523..36313955)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (36210945..36281732)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BRPF3 antisense RNA 1 Neighboring gene bromodomain and PHD finger containing 3 Neighboring gene uncharacterized LOC105375036 Neighboring gene BCL2 interacting protein 5 Neighboring gene ETS variant transcription factor 7 Neighboring gene ETV7 and PTX1 antisense RNA 1

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38755, MGC119319, MGC119320, MGC119321

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in ceramide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in omega-hydroxyceramide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in triglyceride catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in lipid droplet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
omega-hydroxyceramide transacylase
Names
patatin-like phospholipase domain-containing protein 1
NP_001139188.1
NP_001139189.2
NP_001361552.1
NP_775947.2
XP_011512822.1
XP_016866265.1
XP_016866266.1
XP_016866267.1
XP_016866268.1

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_032813.1 RefSeqGene

    Range
    5001..70428
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145716.2NP_001139188.1  omega-hydroxyceramide transacylase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 1, which results in a longer isoform (2), containing an internal protein segment not found in isoform 1. Isoform 2, like isoform 1, lacks the N-terminal catalytic patatin domain, and thought unlikely to function as a lipolytic enzyme (PMID:16799181).
    Source sequence(s)
    AK096074, BC103905, BC103906
    Consensus CDS
    CCDS47416.1
    UniProtKB/Swiss-Prot
    Q8N8W4
    Related
    ENSP00000321116.5, ENST00000312917.9
    Conserved Domains (1) summary
    cl11396
    Location:1302
    Patatin_and_cPLA2; Patatins and Phospholipases
  2. NM_001145717.1NP_001139189.2  omega-hydroxyceramide transacylase isoform 3

    See identical proteins and their annotated locations for NP_001139189.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon compared to variant 1, resulting in translation initiation from an in-frame upstream start codon, and a longer isoform (3) with a distinct N-terminus compared to isoform 1. Isoform 3 contains the N-terminal catalytic patatin domain, that is conserved in other mammalian orthologs (mouse, rat, cow), and essential for lipase activity (PMIDS:16799181, 22246504).
    Source sequence(s)
    AK096074, AM182887, FJ457781
    Consensus CDS
    CCDS54997.1
    UniProtKB/Swiss-Prot
    Q8N8W4
    UniProtKB/TrEMBL
    B8XXQ3
    Related
    ENSP00000378072.2, ENST00000394571.3
    Conserved Domains (1) summary
    cd07219
    Location:2388
    Pat_PNPLA1; Patatin-like phospholipase domain containing protein 1
  3. NM_001374623.1NP_001361552.1  omega-hydroxyceramide transacylase isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
    Source sequence(s)
    Z84484
    Related
    ENSP00000490785.2, ENST00000636260.2
    Conserved Domains (2) summary
    cd07219
    Location:2388
    Pat_PNPLA1; Patatin-like phospholipase domain containing protein 1
    PHA03378
    Location:325476
    PHA03378; EBNA-3B; Provisional
  4. NM_173676.2NP_775947.2  omega-hydroxyceramide transacylase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the shortest isoform (1), which lacks the N-terminal catalytic patatin domain, and thought unlikely to function as a lipolytic enzyme (PMID:16799181).
    Source sequence(s)
    AK096074, BC103906, BC103907
    Consensus CDS
    CCDS34438.1
    UniProtKB/Swiss-Prot
    Q8N8W4
    Related
    ENSP00000373367.3, ENST00000388715.7
    Conserved Domains (1) summary
    cl11396
    Location:1293
    Patatin_and_cPLA2; Patatins and Phospholipases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    36242523..36313955
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010778.1XP_016866267.1  omega-hydroxyceramide transacylase isoform X4

  2. XM_011514520.2XP_011512822.1  omega-hydroxyceramide transacylase isoform X5

    See identical proteins and their annotated locations for XP_011512822.1

    Conserved Domains (1) summary
    cl11396
    Location:1293
    Patatin_and_cPLA2; Patatins and Phospholipases
  3. XM_017010776.1XP_016866265.1  omega-hydroxyceramide transacylase isoform X1

  4. XM_017010777.2XP_016866266.1  omega-hydroxyceramide transacylase isoform X3

  5. XM_017010779.1XP_016866268.1  omega-hydroxyceramide transacylase isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001039725.1: Suppressed sequence

    Description
    NM_001039725.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
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