Human Gene LMF1 (ENST00000543238.5) from GENCODE V44
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Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
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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;
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Primer design for this transcript
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MalaCards Disease Associations
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Comparative Toxicogenomics Database (CTD)
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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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.
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Protein Domain and Structure Information
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InterPro Domains: Graphical view of domain structure IPR009613 - LMF
Pfam Domains: PF06762 - Lipase maturation factor
ModBase Predicted Comparative 3D Structure on Q96S06
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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Orthologous Genes in Other Species
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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.
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Gene Ontology (GO) Annotations with Structured Vocabulary
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Descriptions from all associated GenBank mRNAs
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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.
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Biochemical and Signaling Pathways
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Other Names for This Gene
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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)
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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