Human Gene LMF1 (ENST00000543238.5) from GENCODE V44
  Description: Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway (By similarity). (from UniProt Q96S06)
Gencode Transcript: ENST00000543238.5
Gencode Gene: ENSG00000103227.19
Transcript (Including UTRs)
   Position: hg38 chr16:853,643-970,960 Size: 117,318 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr16:854,532-893,024 Size: 38,493 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:853,643-970,960)mRNA (may differ from genome)Protein (330 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIneXtProtPubMedReactome
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: LMF1_HUMAN
DESCRIPTION: RecName: Full=Lipase maturation factor 1; AltName: Full=Transmembrane protein 112;
FUNCTION: Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
DISEASE: Defects in LMF1 are the cause of combined lipase deficiency (CLD) [MIM:246650]. CLD is characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL).
SIMILARITY: Belongs to the lipase maturation factor family.
SEQUENCE CAUTION: Sequence=BAB15295.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LMF1
Diseases sorted by gene-association score: lipase deficiency, combined* (1000), familial lipoprotein lipase deficiency (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.20 RPKM in Thyroid
Total median expression: 204.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -101.90221-0.461 Picture PostScript Text
3' UTR -337.70889-0.380 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009613 - LMF

Pfam Domains:
PF06762 - Lipase maturation factor

ModBase Predicted Comparative 3D Structure on Q96S06
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006641 triglyceride metabolic process
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0009306 protein secretion
GO:0033578 protein glycosylation in Golgi
GO:0034382 chylomicron remnant clearance
GO:0051004 regulation of lipoprotein lipase activity
GO:0051006 positive regulation of lipoprotein lipase activity
GO:0051604 protein maturation
GO:0090181 regulation of cholesterol metabolic process
GO:0090207 regulation of triglyceride metabolic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK022743 - Homo sapiens cDNA FLJ12681 fis, clone NT2RM4002446.
AK125201 - Homo sapiens cDNA FLJ43211 fis, clone FEBRA2020668.
AK093050 - Homo sapiens cDNA FLJ35731 fis, clone TESTI2003139.
AK025955 - Homo sapiens cDNA: FLJ22302 fis, clone HRC04795.
AK225065 - Homo sapiens mRNA for hypothetical protein LOC64788 variant, clone: CAE02915.
AB075873 - Homo sapiens mRNA for putative protein product of HMFN1876, partial cds.
AK225406 - Homo sapiens mRNA for hypothetical protein LOC64788 variant, clone: HRC08657.
BC010738 - Homo sapiens lipase maturation factor 1, mRNA (cDNA clone IMAGE:3900997), partial cds.
BC156645 - Synthetic construct Homo sapiens clone IMAGE:100062174, MGC:190191 lipase maturation factor 1 (LMF1) mRNA, encodes complete protein.
CU679807 - Synthetic construct Homo sapiens gateway clone IMAGE:100019490 5' read TMEM112 mRNA.
AK294329 - Homo sapiens cDNA FLJ52484 complete cds.
AK294932 - Homo sapiens cDNA FLJ53603 complete cds.
JD383973 - Sequence 364997 from Patent EP1572962.
JD050529 - Sequence 31553 from Patent EP1572962.
JD469858 - Sequence 450882 from Patent EP1572962.
JD122685 - Sequence 103709 from Patent EP1572962.
JD097349 - Sequence 78373 from Patent EP1572962.
JD454625 - Sequence 435649 from Patent EP1572962.
JD132008 - Sequence 113032 from Patent EP1572962.
JD365665 - Sequence 346689 from Patent EP1572962.
JD209468 - Sequence 190492 from Patent EP1572962.
JD399224 - Sequence 380248 from Patent EP1572962.
JD320181 - Sequence 301205 from Patent EP1572962.
JD336218 - Sequence 317242 from Patent EP1572962.
JD100066 - Sequence 81090 from Patent EP1572962.
JD544213 - Sequence 525237 from Patent EP1572962.
JD485062 - Sequence 466086 from Patent EP1572962.
JD427435 - Sequence 408459 from Patent EP1572962.
JD351625 - Sequence 332649 from Patent EP1572962.
BC014196 - Homo sapiens hypothetical protein FLJ12681, mRNA (cDNA clone IMAGE:4335771), partial cds.
AL832177 - Homo sapiens mRNA; cDNA DKFZp686M1216 (from clone DKFZp686M1216).
BC081535 - Homo sapiens cDNA clone IMAGE:30407489.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96S06 (Reactome details) participates in the following event(s):

R-HSA-6785181 LMF1,2 bind LIPC dimer
R-HSA-8963889 Assembly of active LPL and LIPC lipase complexes
R-HSA-8963899 Plasma lipoprotein remodeling
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: AK093050, C16orf26, ENST00000543238.1, ENST00000543238.2, ENST00000543238.3, ENST00000543238.4, HMFN1876, JFP11, LMF1_HUMAN, Q68CJ3, Q96FJ4, Q96S06, Q9H6G4, Q9H9K7, TMEM112, uc010bri.1, uc010bri.2, uc010bri.3, uc010bri.4
UCSC ID: ENST00000543238.5
RefSeq Accession: NM_022773
Protein: Q96S06 (aka LMF1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.