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LIPN lipase family member N [ Homo sapiens (human) ]

Gene ID: 643418, updated on 23-Nov-2021

Summary

Official Symbol
LIPNprovided by HGNC
Official Full Name
lipase family member Nprovided by HGNC
Primary source
HGNC:HGNC:23452
See related
Ensembl:ENSG00000204020 MIM:613924
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
LI4; ARCI8; LIPL4; bA186O14.3
Summary
The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]
Expression
Biased expression in skin (RPKM 5.7), appendix (RPKM 0.9) and 1 other tissue See more
Orthologs
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Genomic context

See LIPN in Genome Data Viewer
Location:
10q23.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (88757226..88783662)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90519777..90539383)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 1 Neighboring gene lipase family member K Neighboring gene keratin 8 pseudogene 38 Neighboring gene RCC1 and BTB domain containing protein 2 pseudogene 1 Neighboring gene lipase family member M Neighboring gene ankyrin repeat domain 22

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

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipoprotein lipase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in cornification TAS
Traceable Author Statement
more info
 
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
lipase member N
Names
lipase-like abhydrolase domain-containing protein 4

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_031911.1 RefSeqGene

    Range
    5001..21837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001102469.2NP_001095939.1  lipase member N precursor

    See identical proteins and their annotated locations for NP_001095939.1

    Status: REVIEWED

    Source sequence(s)
    AL358532
    Consensus CDS
    CCDS44456.1
    UniProtKB/Swiss-Prot
    Q5VXI9
    Related
    ENSP00000383923.1, ENST00000404459.2
    Conserved Domains (4) summary
    pfam00561
    Location:79379
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam04083
    Location:3697
    Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
    pfam12695
    Location:322374
    Abhydrolase_5; Alpha/beta hydrolase family
    cl21494
    Location:149234
    Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    88757226..88783662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540083.2XP_011538385.1  lipase member N isoform X1

    See identical proteins and their annotated locations for XP_011538385.1

    UniProtKB/Swiss-Prot
    Q5VXI9
    Conserved Domains (4) summary
    pfam00561
    Location:79379
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam04083
    Location:3697
    Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
    pfam12695
    Location:322374
    Abhydrolase_5; Alpha/beta hydrolase family
    cl21494
    Location:149234
    Abhydrolase; alpha/beta hydrolases
  2. XM_011540085.2XP_011538387.1  lipase member N isoform X2

    Conserved Domains (4) summary
    pfam00561
    Location:79355
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam04083
    Location:3697
    Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
    pfam12695
    Location:298350
    Abhydrolase_5; Alpha/beta hydrolase family
    cl21494
    Location:149234
    Abhydrolase; alpha/beta hydrolases
  3. XM_011540086.2XP_011538388.1  lipase member N isoform X3

    Conserved Domains (3) summary
    pfam00561
    Location:79331
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam04083
    Location:3697
    Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
    pfam12695
    Location:79326
    Abhydrolase_5; Alpha/beta hydrolase family
  4. XM_005270049.3XP_005270106.1  lipase member N isoform X1

    See identical proteins and their annotated locations for XP_005270106.1

    UniProtKB/Swiss-Prot
    Q5VXI9
    Conserved Domains (4) summary
    pfam00561
    Location:79379
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam04083
    Location:3697
    Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
    pfam12695
    Location:322374
    Abhydrolase_5; Alpha/beta hydrolase family
    cl21494
    Location:149234
    Abhydrolase; alpha/beta hydrolases
  5. XM_011540084.2XP_011538386.1  lipase member N isoform X1

    See identical proteins and their annotated locations for XP_011538386.1

    UniProtKB/Swiss-Prot
    Q5VXI9
    Conserved Domains (4) summary
    pfam00561
    Location:79379
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam04083
    Location:3697
    Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
    pfam12695
    Location:322374
    Abhydrolase_5; Alpha/beta hydrolase family
    cl21494
    Location:149234
    Abhydrolase; alpha/beta hydrolases
  6. XM_017016549.1XP_016872038.1  lipase member N isoform X4

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