LRFN1
Leucine-rich repeat and fibronectin type III domain-containing protein 1
Also known as: KIAA1484, LRFN1_HUMAN, SALM2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9P244
- Gene
- LRFN1
- Ensembl
- ENSG00000128011
- Chromosome
- 19
- Canonical length
- 771 aa
- Protein class
- Predicted membrane proteins
OverviewNCBI Gene
Predicted to be involved in regulation of postsynaptic density assembly. Predicted to be located in plasma membrane. Predicted to be active in postsynaptic density membrane. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
771 residues, UniProt reviewed canonical sequence.
>Q9P244|LRFN1
1 MAPGPFSSAL LSPPPAALPF LLLLWAGASR GQPCPGRCIC QNVAPTLTML CAKTGLLFVP
61 PAIDRRVVEL RLTDNFIAAV RRRDFANMTS LVHLTLSRNT IGQVAAGAFA DLRALRALHL
121 DSNRLAEVRG DQLRGLGNLR HLILGNNQIR RVESAAFDAF LSTVEDLDLS YNNLEALPWE
181 AVGQMVNLNT LTLDHNLIDH IAEGTFVQLH KLVRLDMTSN RLHKLPPDGL FLRSQGTGPK
241 PPTPLTVSFG GNPLHCNCEL LWLRRLTRED DLETCATPEH LTDRYFWSIP EEEFLCEPPL
301 ITRQAGGRAL VVEGQAVSLR CRAVGDPEPV VHWVAPDGRL LGNSSRTRVR GDGTLDVTIT
361 TLRDSGTFTC IASNAAGEAT APVEVCVVPL PLMAPPPAAP PPLTEPGSSD IATPGRPGAN
421 DSAAERRLVA AELTSNSVLI RWPAQRPVPG IRMYQVQYNS SVDDSLVYRM IPSTSQTFLV
481 NDLAAGRAYD LCVLAVYDDG ATALPATRVV GCVQFTTAGD PAPCRPLRAH FLGGTMIIAI
541 GGVIVASVLV FIVLLMIRYK VYGDGDSRRV KGSRSLPRVS HVCSQTNGAG TGAAQAPALP
601 AQDHYEALRE VESQAAPAVA VEAKAMEAET ASAEPEVVLG RSLGGSATSL CLLPSEETSG
661 EESRAAVGPR RSRSGALEPP TSAPPTLALV PGGAAARPRP QQRYSFDGDY GALFQSHSYP
721 RRARRTKRHR STPHLDGAGG GAAGEDGDLG LGSARACLAF TSTEWMLEST VLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LRFN1 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 14 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 14 nTPM
- cerebral cortex: 12 nTPM
- hypothalamus: 9.5 nTPM
- amygdala: 8 nTPM
- hippocampal formation: 7.9 nTPM
- basal ganglia: 5.2 nTPM
Single-cell type
- neutrophils: 34 nCPM
- retinal bipolar cells: 27 nCPM
- retinal amacrine cells: 11 nCPM
- other brain neurons: 11 nCPM
- brain excitatory neurons: 9.7 nCPM
- brain inhibitory neurons: 7.9 nCPM
Immune cell
- eosinophil: 0.9 nTPM
- neutrophil: 0.6 nTPM
- basophil: 0.5 nTPM
- NK-cell: 0.4 nTPM
- gdT-cell: 0.2 nTPM
- MAIT T-cell: 0.2 nTPM
Brain region
- cerebral cortex: 34 nTPM
- basal ganglia: 27 nTPM
- amygdala: 26 nTPM
- hypothalamus: 25 nTPM
- hippocampal formation: 24 nTPM
- cerebellum: 22 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LRFN1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 89 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- LRFN1
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)
- 0.39
- gnomAD pLI
- 0.9
- gnomAD missense Z
- 3.31
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cysteine-rich flanking region, C-terminal
- Leucine-rich repeat
- Leucine-rich repeat, typical subtype
- Immunoglobulin subtype 2
- Immunoglobulin domain subtype
- Fibronectin type III
- Immunoglobulin-like domain
- Immunoglobulin I-set
- Immunoglobulin-like fold
- Leucine-rich repeat domain superfamily
- Fibronectin type III superfamily
- Immunoglobulin-like domain superfamily
- Leucine-rich repeat and fibronectin type-III domain-containing
- Fibronectin type III domain
- Immunoglobulin I-set domain
- Leucine rich repeat
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LRFN1 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 LRFN1 as an antibody target. Whether an autoantibody or antibody against LRFN1 could matter depends on whether native LRFN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LRFN1 is annotated at the cell surface, where native LRFN1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label LRFN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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