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

    Gene ID: 643418, updated on 5-Mar-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LIPN in Genome Data Viewer
    Location:
    10q23.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (88757226..88779626)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (89641224..89663572)
    105.20220307 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

    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

    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

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

    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.

    Genomic

    1. NG_031911.1 RefSeqGene

      Range
      3615..23221
      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
      A7KIH9, 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: GCF_000001405.40-RS_2023_10

    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_005270049.4XP_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: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_011540084.3XP_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: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
    3. XM_047425642.1XP_047281598.1  lipase member N isoform X1

      UniProtKB/Swiss-Prot
      A7KIH9, Q5VXI9
    4. XM_047425643.1XP_047281599.1  lipase member N isoform X2

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

    6. XM_017016549.2XP_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_054366579.1XP_054222554.1  lipase member N isoform X1

      UniProtKB/Swiss-Prot
      A7KIH9, Q5VXI9
    2. XM_054366577.1XP_054222552.1  lipase member N isoform X1

      UniProtKB/Swiss-Prot
      A7KIH9, Q5VXI9
    3. XM_054366581.1XP_054222556.1  lipase member N isoform X2

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

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

      UniProtKB/Swiss-Prot
      A7KIH9, Q5VXI9
    6. XM_054366580.1XP_054222555.1  lipase member N isoform X1

      UniProtKB/Swiss-Prot
      A7KIH9, Q5VXI9
    7. XM_054366583.1XP_054222558.1  lipase member N isoform X4