LFNG
Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe
Also known as: LFNG_HUMAN, SCDO3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NES3
- Gene
- LFNG
- Ensembl
- ENSG00000106003
- Chromosome
- 7
- Canonical length
- 379 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nuclear membrane,Golgi apparatus
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]
Canonical amino-acid sequenceUniProt
379 residues, UniProt reviewed canonical sequence.
>Q8NES3|LFNG
1 MLKRCGRRLL LALAGALLAC LLVLTADPPP PPLPAERGRR ALRSLAGPAG AAPAPGLGAA
61 AAAPGALVRD VHSLSEYFSL LTRARRDAGP PPGAAPRPAD GHPRPLAEPL APRDVFIAVK
121 TTKKFHRARL DLLLETWISR HKEMTFIFTD GEDEALARHT GNVVITNCSA AHSRQALSCK
181 MAVEYDRFIE SGRKWFCHVD DDNYVNLRAL LRLLASYPHT RDVYVGKPSL DRPIQAMERV
241 SENKVRPVHF WFATGGAGFC ISRGLALKMS PWASGGHFMN TAERIRLPDD CTIGYIVEAL
301 LGVPLIRSGL FHSHLENLQQ VPTSELHEQV TLSYGMFENK RNAVHVKGPF SVEADPSRFR
361 SIHCHLYPDT PWCPRTAIFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LFNG 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
- 1
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 72 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 72 nTPM
- skin: 55 nTPM
- stomach: 36 nTPM
- salivary gland: 32 nTPM
- basal ganglia: 24 nTPM
- midbrain: 24 nTPM
Single-cell type
- monocytes: 79 nCPM
- bergmann glia: 52 nCPM
- astrocytes: 46 nCPM
- cdc: 41 nCPM
- neuroendocrine cells: 40 nCPM
- müller glia: 40 nCPM
Immune cell
- eosinophil: 13 nTPM
- intermediate monocyte: 7 nTPM
- non-classical monocyte: 6.6 nTPM
- basophil: 6.3 nTPM
- classical monocyte: 5.4 nTPM
- T-reg: 4.2 nTPM
Brain region
- thalamus: 64 nTPM
- midbrain: 60 nTPM
- medulla oblongata: 57 nTPM
- hypothalamus: 46 nTPM
- cerebellum: 46 nTPM
- basal ganglia: 38 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LFNG.
Disease | AllUniProt
Conditions LFNG is implicated in, by any mechanism.
- Spondylocostal dysostosis 3, autosomal recessive (SCDO3) MIM:609813
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 331 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spondylocostal dysostosis 3, autosomal recessive
- Spondylocostal dysostosis 2, autosomal recessive
- Fetal anomalies with a likely genetic cause
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)
- 0.69
- gnomAD pLI
- 0.1
- gnomAD missense Z
- 0.62
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- animal organ morphogenesis
- compartment pattern specification
- marginal zone B cell differentiation
- ovarian follicle development
- positive regulation of meiotic cell cycle
- positive regulation of Notch signaling pathway
- regulation of Notch signaling pathway
- regulation of somitogenesis
- somitogenesis
- T cell differentiation
- negative regulation of Notch signaling pathway involved in somitogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LFNG as an antibody target. Whether an autoantibody or antibody against LFNG could matter depends on whether native LFNG is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LFNG 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 LFNG as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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