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    LIPM lipase family member M [ Homo sapiens (human) ]

    Gene ID: 340654, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LIPMprovided by HGNC
    Official Full Name
    lipase family member Mprovided by HGNC
    Primary source
    HGNC:HGNC:23455
    See related
    Ensembl:ENSG00000173239 MIM:613923; AllianceGenome:HGNC:23455
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LIPL3; bA304I5.1
    Summary
    Predicted to enable lipoprotein lipase activity. Predicted to be involved in cornification. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in skin (RPKM 5.3), stomach (RPKM 0.7) and 2 other tissues See more
    Orthologs
    all
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    Genomic context

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    See LIPM in Genome Data Viewer
    Location:
    10q23.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (88802730..88820546)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (89686676..89704478)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90562487..90580303)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:90518932-90520131 Neighboring gene lipase family member N Neighboring gene RCC1 and BTB domain containing protein 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3725 Neighboring gene ankyrin repeat domain 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3726 Neighboring gene uncharacterized LOC124902551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2589 Neighboring gene pentatricopeptide repeat domain 2 pseudogene 2 Neighboring gene STAM binding protein like 1

    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
    • 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. Large-scale identification of human genes implicated in epidermal barrier function. Toulza E, et al. Genome Biol, 2007. PMID 17562024, Free PMC Article
    2. Paralog knockout profiling identifies DUSP4 and DUSP6 as a digenic dependence in MAPK pathway-driven cancers. Ito T, et al. Nat Genet, 2021 Dec. PMID 34857952
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    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 M
    Names
    lipase M
    lipase-like abhydrolase domain-containing protein 3
    lipase-like, ab-hydrolase domain containing 3

    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.

    mRNA and Protein(s)

    1. NM_001128215.1 → NP_001121687.1  lipase member M precursor

      See identical proteins and their annotated locations for NP_001121687.1

      Status: VALIDATED

      Source sequence(s)
      AL358532, BC157888, EF426484
      Consensus CDS
      CCDS44457.1
      UniProtKB/Swiss-Prot
      A6PVS3, B2RXK7, B5MCR3, Q5VYY2
      Related
      ENSP00000383901.3, ENST00000404743.9
      Conserved Domains (3) summary
      pfam00561
      Location:92 → 392
      Abhydrolase_1; alpha/beta hydrolase fold
      pfam04083
      Location:49 → 111
      Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
      pfam12695
      Location:93 → 231
      Abhydrolase_5; Alpha/beta hydrolase family

    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
      88802730..88820546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539748.4 → XP_011538050.1  lipase member M isoform X1

      See identical proteins and their annotated locations for XP_011538050.1

      Conserved Domains (3) summary
      pfam00561
      Location:92 → 399
      Abhydrolase_1; alpha/beta hydrolase fold
      pfam04083
      Location:49 → 111
      Abhydro_lipase; Partial alpha/beta-hydrolase lipase region
      pfam12695
      Location:93 → 231
      Abhydrolase_5; Alpha/beta hydrolase family

    2. XM_011539751.4 → XP_011538053.1  lipase member M isoform X2

      Conserved Domains (1) summary
      PLN02872
      Location:1 → 283
      PLN02872; triacylglycerol lipase

    3. XM_011539752.4 → XP_011538054.1  lipase member M isoform X3

      Conserved Domains (1) summary
      PLN02872
      Location:1 → 221
      PLN02872; triacylglycerol lipase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      89686676..89704478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365721.1 → XP_054221696.1  lipase member M isoform X1

    2. XM_054365722.1 → XP_054221697.1  lipase member M isoform X2

    3. XM_054365723.1 → XP_054221698.1  lipase member M isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VYY2.2 GenPept UniProtKB/Swiss-Prot:Q5VYY2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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