Loxhd1 lipoxygenase homology domains 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Loxhd1provided by MGI
Official Full Name: lipoxygenase homology domains 1provided by MGI
Primary source: MGI:MGI:1914609
See related: Ensembl:ENSMUSG00000032818 AllianceGenome:MGI:1914609
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: sba; 4932417K07; 1700096C21Rik
Summary: Acts upstream of or within sensory perception of sound. Located in stereocilium. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; autosomal recessive nonsyndromic deafness 77; and orofacial cleft. Orthologous to human LOXHD1 (lipoxygenase homology PLAT domains 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 1.5), cerebellum adult (RPKM 0.1) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 18 E3; 18 52.2 cM

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (77369354..77530628)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (77281658..77442932)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loxhd1 Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells.
Title: Loxhd1 Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells.
Hearing loss in the ethylnitrosourea (ENU)-induced samba mouse line is caused by a mutation in Loxhd1.
Title: Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D18Dcr2 (e-PCR), detects polymorphism
- UniSTS:507537

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in stereocilium	IBA Inferred from Biological aspect of Ancestor more info
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: lipoxygenase homology domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001414399.1 → NP_001401328.1 lipoxygenase homology domain-containing protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC102124, AC102135

Related

ENSMUSP00000114988.3, ENSMUST00000148341.9
NM_172834.3 → NP_766422.2 lipoxygenase homology domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_766422.2

Status: VALIDATED

Source sequence(s)

AC102124, AC102135, FJ750876

Consensus CDS

CCDS50326.1

UniProtKB/Swiss-Prot

C8YR32, Q8BMY5

UniProtKB/TrEMBL

F6XPZ0

Related

ENSMUSP00000094294.4, ENSMUST00000096547.11

Conserved Domains (2) summary

cd01756
Location:970 → 1090

PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.

cl00011
Location:1424 → 1539

PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...