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    LMF1 lipase maturation factor 1 [ Homo sapiens (human) ]

    Gene ID: 64788, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LMF1provided by HGNC
    Official Full Name
    lipase maturation factor 1provided by HGNC
    Primary source
    HGNC:HGNC:14154
    See related
    Ensembl:ENSG00000103227 MIM:611761; AllianceGenome:HGNC:14154
    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
    JFP11; TMEM112; C16orf26; HMFN1876; TMEM112A
    Summary
    Involved in triglyceride metabolic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in familial lipase maturation factor 1 deficiency. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in brain (RPKM 6.7), salivary gland (RPKM 2.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LMF1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (853634..981613, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (860524..992407, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (903634..1031613, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:836847-837654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:844412-845141 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:850423-850972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:850973-851522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:851523-852072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:852890-853434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:853979-854522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10215 Neighboring gene RNA pseudouridine synthase domain containing 1 Neighboring gene chromosome transmission fidelity factor 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6961 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:867140-867640 Neighboring gene G protein subunit gamma 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:890022-890522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:935837-936415 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:936416-936993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:940581-941424 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:946091-946310 Neighboring gene peptidyl-prolyl cis-trans isomerase CYP95-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:951356-952074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:952075-952792 Neighboring gene uncharacterized LOC107984876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:966023-966972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:978795-979378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:979379-979960 Neighboring gene LMF1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:997219-998196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1009984-1010484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1019189-1020180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1022163-1023153 Neighboring gene uncharacterized LOC124903620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1038856-1039356 Neighboring gene cytoplasmic endogenous regulator of oxidative phosphorylation 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1051902-1052558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1059983-1060602 Neighboring gene SRY-box transcription factor 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1064356-1064557 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1074897-1075411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1075412-1075925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1087280-1087789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1097469-1098084 Neighboring gene Sharpr-MPRA regulatory region 13654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1113181-1113680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1119782-1120538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1121507-1122248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1128485-1129149 Neighboring gene SSTR5 antisense RNA 1 Neighboring gene somatostatin receptor 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Severe hypertriglyceridemia secondary to splice-site and missense variants in LMF1 in three patients from Ecuador. Garay-García K, et al. J Clin Lipidol, 2022 May-Jun. PMID 35246399
    2. Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking. Chen WW, et al. Lipids Health Dis, 2019 Mar 18. PMID 30885219, Free PMC Article
    3. Lipase maturation factor 1 affects redox homeostasis in the endoplasmic reticulum. Roberts BS, et al. EMBO J, 2018 Oct 1. PMID 30068531, Free PMC Article
    4. New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia. Serveaux Dancer M, et al. J Clin Lipidol, 2018 Sep-Oct. PMID 30037590
    5. A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient. Liu Y, et al. J Atheroscler Thromb, 2019 Feb 1. PMID 29910226, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Severe hypertriglyceridemia secondary to splice-site and missense variants in LMF1 in three patients from Ecuador.
      Title: Severe hypertriglyceridemia secondary to splice-site and missense variants in LMF1 in three patients from Ecuador.
    2. Assessment of Zinc- alpha2 glycoprotein (ZAG) and Lipase Maturation Factor 1 (LMF1) concentration in children with chronic kidney disease.
      Title: Assessment of Zinc- alpha2 glycoprotein (ZAG) and Lipase Maturation Factor 1 (LMF1) concentration in children with chronic kidney disease.
    3. rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia
      Title: New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.
    4. LMF1 is needed for secretion of some ER client proteins that require reduction of non-native disulfides during their folding.
      Title: Lipase maturation factor 1 affects redox homeostasis in the endoplasmic reticulum.
    5. A heterozygous LMF1 nonsense variant was found in a hypertriglyceridemia-acute pancreatitis patient with severe obesity and heavy smoking, highlighting an important interplay between genetic and lifestyle factors in the etiology of hypertriglyceridemia.
      Title: Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking.
    6. Compound heterozygous mutation of LMF1 gene is associated with Hypertriglyceridemia.
      Title: A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient.
    7. Triglyceride-raising variant alleles of the LMF1 encoding lipase maturation factor 1, associated with clinical Cardiovascular endpoints.
      Title: Genetics of Triglycerides and the Risk of Atherosclerosis.
    8. Our results suggest that LMF1 mutations are involved in a substantial proportion of cases with severe primary hypertriglyceridemia, putting together the moderate-aggressive effect of rare mutations with polymorphisms classically associated with this disease.
      Title: [Identification of variants in LMF1 gene associated with primary hypertriglyceridemia].
    9. Thus we provide evidence for the critical role of the N-terminus of LMF1 for the maturation of LPL and relevant ratio of chaperone to substrate.
      Title: Purification, cellular levels, and functional domains of lipase maturation factor 1.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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

    Associated conditions

    Description Tests
    Lipase deficiency, combined
    MedGen: C1855498 OMIM: 246650 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: CEROX1

    Homology

    Clone Names

    • FLJ12681, FLJ22302

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in protein maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in triglyceride metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    lipase maturation factor 1
    Names
    transmembrane protein 112

    NCBI Reference Sequences (RefSeq)

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    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_021286.2 RefSeqGene

      Range
      15632..132982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001352017.2 → NP_001338946.1  lipase maturation factor 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009041, AK093050, AK125201, AK225065, CA427159
      Consensus CDS
      CCDS86488.1
      UniProtKB/TrEMBL
      B3KWK2, H3BVI4
      Conserved Domains (1) summary
      pfam06762
      Location:1 → 330
      LMF1; Lipase maturation factor

    2. NM_001352018.2 → NP_001338947.1  lipase maturation factor 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC009041, AL008727, AL031008, AL031716, CA427159, Z93041
      UniProtKB/TrEMBL
      B3KWK2
      Conserved Domains (1) summary
      pfam06762
      Location:41 → 414
      LMF1; Lipase maturation factor

    3. NM_001352019.2 → NP_001338948.1  lipase maturation factor 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC009041, AL008727, AL031008, AL031716, CA427159, Z93041
      Conserved Domains (1) summary
      pfam06762
      Location:65 → 438
      LMF1; Lipase maturation factor

    4. NM_001352020.1 → NP_001338949.1  lipase maturation factor 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC009041, AL008727, AL031008, AL031716, CA427159, Z93041
      Conserved Domains (1) summary
      pfam06762
      Location:174 → 465
      LMF1; Lipase maturation factor

    5. NM_001352021.2 → NP_001338950.1  lipase maturation factor 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009041, AL008727, AL031008, AL031716, CA427159, Z93041
      Consensus CDS
      CCDS86488.1
      UniProtKB/TrEMBL
      B3KWK2, H3BVI4
      Related
      ENSP00000458135.1, ENST00000568897.5
      Conserved Domains (1) summary
      pfam06762
      Location:1 → 330
      LMF1; Lipase maturation factor

    6. NM_022773.4 → NP_073610.2  lipase maturation factor 1 isoform 1

      See identical proteins and their annotated locations for NP_073610.2

      Status: REVIEWED

      Source sequence(s)
      AC009041, AL008727, AL031008, AL031716, Z93041
      Consensus CDS
      CCDS45373.1
      UniProtKB/Swiss-Prot
      B3KS80, Q68CJ3, Q96FJ4, Q96S06, Q9H6G4, Q9H9K7
      Related
      ENSP00000262301.12, ENST00000262301.16
      Conserved Domains (1) summary
      pfam06762
      Location:174 → 547
      LMF1; Lipase maturation factor

    RNA

    1. NR_147885.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC009041, AL008727, AL031008, AL031716, CA427159, Z93041

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      853634..981613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      860524..992407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_033646.1: Suppressed sequence

      Description
      NR_033646.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96S06.1 GenPept UniProtKB/Swiss-Prot:Q96S06

    Gene LinkOut

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

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