LMF1
Lipase maturation factor 1
Also known as: C16orf26, FLJ12681, FLJ22302, JFP11, LMF1_HUMAN, TMEM112, TMEM112A
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96S06
- Gene
- LMF1
- Ensembl
- ENSG00000103227
- Chromosome
- 16
- Canonical length
- 567 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
OverviewNCBI Gene
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, Jul 2025]
Canonical amino-acid sequenceUniProt
567 residues, UniProt reviewed canonical sequence.
>Q96S06|LMF1
1 MRPDSPTMAA PAESLRRRKT GYSDPEPESP PAPGRGPAGS PAHLHTGTFW LTRIVLLKAL
61 AFVYFVAFLV AFHQNKQLIG DRGLLPCRVF LKNFQQYFQD RTSWEVFSYM PTILWLMDWS
121 DMNSNLDLLA LLGLGISSFV LITGCANMLL MAALWGLYMS LVNVGHVWYS FGWESQLLET
181 GFLGIFLCPL WTLSRLPQHT PTSRIVLWGF RWLIFRIMLG AGLIKIRGDR CWRDLTCMDF
241 HYETQPMPNP VAYYLHHSPW WFHRFETLSN HFIELLVPFF LFLGRRACII HGVLQILFQA
301 VLIVSGNLSF LNWLTMVPSL ACFDDATLGF LFPSGPGSLK DRVLQMQRDI RGARPEPRFG
361 SVVRRAANVS LGVLLAWLSV PVVLNLLSSR QVMNTHFNSL HIVNTYGAFG SITKERAEVI
421 LQGTASSNAS APDAMWEDYE FKCKPGDPSR RPCLISPYHY RLDWLMWFAA FQTYEHNDWI
481 IHLAGKLLAS DAEALSLLAH NPFAGRPPPR WVRGEHYRYK FSRPGGRHAA EGKWWVRKRI
541 GAYFPPLSLE ELRPYFRDRG WPLPGPLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LMF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 5
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 21 nTPM
- spinal cord: 15 nTPM
- salivary gland: 14 nTPM
- choroid plexus: 13 nTPM
- epididymis: 13 nTPM
- thyroid gland: 12 nTPM
Single-cell type
- retinal amacrine cells: 127 nCPM
- distal convoluted tubule cells: 90 nCPM
- proximal tubule cells: 86 nCPM
- oligodendrocytes: 85 nCPM
- renal collecting duct intercalated cells: 80 nCPM
- prostatic glandular cells: 80 nCPM
Immune cell
- myeloid DC: 8.3 nTPM
- plasmacytoid DC: 7.6 nTPM
- gdT-cell: 6.9 nTPM
- NK-cell: 6.2 nTPM
- intermediate monocyte: 5.9 nTPM
- classical monocyte: 5.4 nTPM
Brain region
- white matter: 45 nTPM
- basal ganglia: 37 nTPM
- medulla oblongata: 36 nTPM
- cerebral cortex: 35 nTPM
- amygdala: 32 nTPM
- midbrain: 30 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LMF1.
Disease | AllUniProt
Conditions LMF1 is implicated in, by any mechanism.
- Combined lipase deficiency (CLD) MIM:246650
Disease | GeneticClinVar
29 pathogenic / likely-pathogenic of 791 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Lipase deficiency, combined
- Cardiovascular phenotype
- Familial cancer of breast
- LMF1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.27
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.79
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chylomicron remnant clearance
- endoplasmic reticulum to Golgi vesicle-mediated transport
- protein maturation
- protein secretion
- regulation of cholesterol metabolic process
- regulation of triglyceride metabolic process
- triglyceride metabolic process
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LMF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LMF1 as an antibody target. Whether an autoantibody or antibody against LMF1 could matter depends on whether native LMF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LMF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LMF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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