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

Gene ID: 64788, updated on 2-Nov-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, Nov 2024]
Expression
Broad expression in brain (RPKM 6.7), salivary gland (RPKM 2.6) and 25 other tissues See more
Orthologs
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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: 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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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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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
Compare labs

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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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

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