LHFPL1

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]

Description

LHFPL tetraspan subfamily member 1

Tissue specificity

Group enriched (brain, salivary gland)

Predicted location

Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins

Chromosome

X (112630648 - 112680054)

Ensembl ID

ENSG00000182508  (ver. 103.38)

Orthologs

Mouse Lhfpl1: ENSMUSG00000041700

UniProt

Q86WI0

neXtProt

NX_Q86WI0

Human splice variants
Mouse splice variants

Protein structure