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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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