LHFPL6
LHFPL tetraspan subfamily member 6 protein
Also known as: LHFP, LHPL6_HUMAN, MGC22429
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y693
- Gene
- LHFPL6
- Ensembl
- ENSG00000183722
- Chromosome
- 13
- Canonical length
- 200 aa
- Protein class
- Disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoli
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. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
200 residues, UniProt reviewed canonical sequence.
>Q9Y693|LHFPL6
1 MASSLTCTGV IWALLSFLCA ATSCVGFFMP YWLWGSQLGK PVSFGTFRRC SYPVHDESRQ
61 MMVMVEECGR YASFQGIPSA EWRICTIVTG LGCGLLLLVA LTALMGCCVS DLISRTVGRV
121 AGGIQFLGGL LIGAGCALYP LGWDSEEVRQ TCGYTSGQFD LGKCEIGWAY YCTGAGATAA
181 MLLCTWLACF SGKKQKHYPYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LHFPL6 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)
- 0.27
- Highest tissue expression
- 143 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 143 nTPM
- adipose tissue: 134 nTPM
- placenta: 127 nTPM
- breast: 122 nTPM
- heart muscle: 96 nTPM
- ovary: 92 nTPM
Single-cell type
- pericytes: 1,138 nCPM
- retinal horizontal cells: 948 nCPM
- fibro-adipogenic progenitors: 934 nCPM
- fibroblasts: 681 nCPM
- pituicytes/fscs: 644 nCPM
- choroid plexus epithelial cells: 627 nCPM
Immune cell
- myeloid DC: 6.2 nTPM
- plasmacytoid DC: 2.1 nTPM
- intermediate monocyte: 0.4 nTPM
- classical monocyte: 0.3 nTPM
- total PBMC: 0.3 nTPM
- naive B-cell: 0.1 nTPM
Brain region
- thalamus: 84 nTPM
- cerebellum: 69 nTPM
- midbrain: 68 nTPM
- hypothalamus: 67 nTPM
- choroid plexus: 67 nTPM
- medulla oblongata: 63 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)
- 0.6
- gnomAD pLI
- 0.67
- DepMap mean gene effect
- 0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LHFPL6 as an antibody target. Whether an autoantibody or antibody against LHFPL6 could matter depends on whether native LHFPL6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LHFPL6 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 LHFPL6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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