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

Gene ID: 643418, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:23452
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
all
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Genomic context

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See LIPN in Genome Data Viewer
Location:
10q23.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (88757226..88779626)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (89641224..89663572)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90519777..90539383)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:90462586-90463435 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 BRD4-independent group 4 enhancer GRCh37_chr10:90518932-90520131 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Israeli S, et al. Am J Hum Genet, 2011 Apr 8. PMID 21439540, Free PMC Article
  2. Autosomal Recessive Congenital Ichthyosis. Adam MP, et al. , 1993. PMID 20301593
  3. Large-scale identification of human genes implicated in epidermal barrier function. Toulza E, et al. Genome Biol, 2007. PMID 17562024, Free PMC Article
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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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
  

General protein information

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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
    3615..23221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001102469.2 → NP_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
    A7KIH9, Q5VXI9
    Related
    ENSP00000383923.1, ENST00000404459.2
    Conserved Domains (4) summary
    pfam00561
    Location:79 → 379
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam04083
    Location:36 → 97
    Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
    pfam12695
    Location:322 → 374
    Abhydrolase_5; Alpha/beta hydrolase family
    cl21494
    Location:149 → 234
    Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    88757226..88779626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270049.4 → XP_005270106.1  lipase member N isoform X1

    See identical proteins and their annotated locations for XP_005270106.1

    UniProtKB/Swiss-Prot
    A7KIH9, Q5VXI9
    Conserved Domains (4) summary
    pfam00561
    Location:79 → 379
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam04083
    Location:36 → 97
    Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
    pfam12695
    Location:322 → 374
    Abhydrolase_5; Alpha/beta hydrolase family
    cl21494
    Location:149 → 234
    Abhydrolase; alpha/beta hydrolases

  2. XM_011540084.3 → XP_011538386.1  lipase member N isoform X1

    See identical proteins and their annotated locations for XP_011538386.1

    UniProtKB/Swiss-Prot
    A7KIH9, Q5VXI9
    Conserved Domains (4) summary
    pfam00561
    Location:79 → 379
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam04083
    Location:36 → 97
    Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
    pfam12695
    Location:322 → 374
    Abhydrolase_5; Alpha/beta hydrolase family
    cl21494
    Location:149 → 234
    Abhydrolase; alpha/beta hydrolases

  3. XM_047425642.1 → XP_047281598.1  lipase member N isoform X1

    UniProtKB/Swiss-Prot
    A7KIH9, Q5VXI9

  4. XM_047425643.1 → XP_047281599.1  lipase member N isoform X2

  5. XM_047425644.1 → XP_047281600.1  lipase member N isoform X3

  6. XM_017016549.2 → XP_016872038.1  lipase member N isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    89641224..89663572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366579.1 → XP_054222554.1  lipase member N isoform X1

    UniProtKB/Swiss-Prot
    A7KIH9, Q5VXI9

  2. XM_054366577.1 → XP_054222552.1  lipase member N isoform X1

    UniProtKB/Swiss-Prot
    A7KIH9, Q5VXI9

  3. XM_054366581.1 → XP_054222556.1  lipase member N isoform X2

  4. XM_054366582.1 → XP_054222557.1  lipase member N isoform X3

  5. XM_054366578.1 → XP_054222553.1  lipase member N isoform X1

    UniProtKB/Swiss-Prot
    A7KIH9, Q5VXI9

  6. XM_054366580.1 → XP_054222555.1  lipase member N isoform X1

    UniProtKB/Swiss-Prot
    A7KIH9, Q5VXI9

  7. XM_054366583.1 → XP_054222558.1  lipase member N isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VXI9.2 GenPept UniProtKB/Swiss-Prot:Q5VXI9

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