Seroatlas · Human Serome Atlas

LHFPL1

LHFPL tetraspan subfamily member 1 protein

Also known as: LHPL1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q86WI0
Gene: LHFPL1
Ensembl: ENSG00000182508
Chromosome: X
Canonical length: 220 aa
Protein class: Predicted membrane proteins

OverviewNCBI Gene

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

220 residues, UniProt reviewed canonical sequence.

>Q86WI0|LHFPL1
     1  MRSSLTMVGT LWAFLSLVTA VTSSTSYFLP YWLFGSQMGK PVSFSTFRRC NYPVRGEGHS
    61  LIMVEECGRY ASFNAIPSLA WQMCTVVTGA GCALLLLVAL AAVLGCCMEE LISRMMGRCM
   121  GAAQFVGGLL ISSGCALYPL GWNSPEIMQT CGNVSNQFQL GTCRLGWAYY CAGGGAAAAM
   181  LICTWLSCFA GRNPKPVILV ESIMRNTNSY AMELDHCLKP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LHFPL1 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: Unknown
Secreted: No
Transmembrane segments: 3
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 2.7 nTPM

Expression across tissuesHPA

Tissue

salivary gland: 2.7 nTPM
basal ganglia: 2.5 nTPM
midbrain: 2.1 nTPM
pituitary gland: 1.3 nTPM
amygdala: 1.1 nTPM
blood vessel: 1.1 nTPM

Single-cell type

pituitary stem cells: 149 nCPM
astrocytes: 17 nCPM
lacrimal acinar cells: 9.1 nCPM
microglia: 6.6 nCPM
medullary thymic epithelial cells: 4.8 nCPM
respiratory deuterosomal cells: 4.1 nCPM

Immune cell

memory CD8 T-cell: 0.4 nTPM
gdT-cell: 0.2 nTPM
memory B-cell: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM
naive B-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM

Brain region

midbrain: 26 nTPM
hypothalamus: 17 nTPM
thalamus: 17 nTPM
basal ganglia: 13 nTPM
pons: 12 nTPM
amygdala: 10 nTPM

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): 1.11
gnomAD pLI: 0.14
gnomAD missense Z: 0.47
DepMap mean gene effect: -0.01
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LHFPL1 as an antibody target. Whether an autoantibody or antibody against LHFPL1 could matter depends on whether native LHFPL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LHFPL1 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 LHFPL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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