Loxhd1 MGI Mouse Gene Detail - MGI:1914609 - lipoxygenase homology domains 1

Symbol

Loxhd1
Name

lipoxygenase homology domains 1
Synonyms

1700096C21Rik, sba

Feature Type

protein coding gene
IDs

MGI:1914609
NCBI Gene: 240411
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr18:77369654-77530626 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 52.20 cM
Mapping Data

1 experiment

SNPs within 2kb

5027 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914609	protein coding gene	Chr18:77369354-77530628 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024575	protein coding gene	Chr18:78029931-78209601 (+)
A/J	MGP_AJ_G0024542	protein coding gene	Chr18:74632274-74790404 (+)
AKR/J	MGP_AKRJ_G0024513	protein coding gene	Chr18:76813108-76974467 (+)
BALB/cJ	MGP_BALBcJ_G0024541	protein coding gene	Chr18:74839371-75003132 (+)
C3H/HeJ	MGP_C3HHeJ_G0024310	protein coding gene	Chr18:76932465-77101854 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024988	protein coding gene	Chr18:80084246-80262012 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022418	protein coding gene	Chr18:73625864-73784420 (+)
CAST/EiJ	MGP_CASTEiJ_G0023782	protein coding gene	Chr18:77218370-77409760 (+)
CBA/J	MGP_CBAJ_G0024279	protein coding gene	Chr18:82904946-83100479 (+)
DBA/2J	MGP_DBA2J_G0024409	protein coding gene	Chr18:74196860-74359367 (+)
FVB/NJ	MGP_FVBNJ_G0024375	protein coding gene	Chr18:73556231-73719145 (+)
LP/J	MGP_LPJ_G0024493	protein coding gene	Chr18:77925950-78099774 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024405	protein coding gene	Chr18:84185111-84363654 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025036	protein coding gene	Chr18:76991579-77168864 (+)
PWK/PhJ	MGP_PWKPhJ_G0023527	protein coding gene	Chr18:74610053-74774592 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023331	protein coding gene	Chr18:77174706-77345896 (+)
WSB/EiJ	MGP_WSBEiJ_G0023846	protein coding gene	Chr18:76949982-77124733 (+)

Human Ortholog

LOXHD1, lipoxygenase homology PLAT domains 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

LOXHD1, lipoxygenase homology PLAT domains 1
Synonyms

DFNB77, LH2D1
Links

HGNC:26521

NCBI Gene ID: 125336

neXtProt AC: NX_Q8IVV2

UniProt: Q8IVV2
Chr Location

18q21.1; chr18:46476961-46657220 (-) GRCh38

MGI Vertebrate Homology

Loxhd1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: LOXHD1
Gene Tree

Loxhd1

Diseases

3 with human LOXHD1 associations

				Human Disease	Mouse Models
				autosomal recessive nonsyndromic deafness 77 IDs autosomal recessive nonsyndromic deafness 77 DOID:0110525 ICD10CM:H90.3 OMIM:613079
				Fuchs' endothelial dystrophy IDs Fuchs' endothelial dystrophy DOID:11555 ICD10CM:H18.51 MESH:D005642 NCI:C84721 OMIM:136800 OMIM:610158 OMIM:613267 OMIM:613268 OMIM:613269 OMIM:613270 OMIM:613271 OMIM:615523 ORDO:98974 UMLS_CUI:C0016781
				orofacial cleft IDs orofacial cleft DOID:0050567 OMIM:PS119530

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

8 phenotypes from 3 alleles in 2 genetic backgrounds
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

6
Chemically induced (ENU)

3
Endonuclease-mediated

1
Targeted

1
Transposon induced

1
Genomic Mutations

1 involving Loxhd1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

104 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice honozygous for an ENU-induced mutation exhibit hearing loss associated with hair cell and spiral ganglion degeneration.

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All GO Annotations

5
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

5
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN loxhd1b

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All Sequences

41
RefSeq

4
UniProt

4
CCDS

CCDS50326.1

Ensembl

ENSMUSG00000032818 (Evidence)
NCBI Gene

240411

			Length	Strain/Species	Flank
genomic	ENSMUSG00000032818	Ensembl Gene Model \| MGI Sequence Detail	160973	C57BL/6J	± kb
transcript	ENSMUST00000148341	Ensembl \| MGI Sequence Detail	7036	Not Applicable
polypeptide	ENSMUSP00000114988	Ensembl \| MGI Sequence Detail	2216	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000031082 lipoxygenase homology domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR052970 Inner ear hair cell lipoxygenase homology domain-containing protein

IPR001024 PLAT/LH2 domain

IPR036392 PLAT/LH2 domain superfamily
GlyGen

C8YR32 1 site, 1 O-linked glycan (1 site)

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All nucleic 5

cDNA 5

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MGI:3708146

Summaries

All 24

Developmental Gene Expression 1

Gene Ontology 4

Phenotypes 7
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:354230 Wang P, et al., LOXHD1 is indispensable for maintaining TMC1 auditory mechanosensitive channels at the site of force transmission. Nat Commun. 2024 Sep 10;15(1):7865

TSS for Loxhd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr152036	Chr18:77369352-77369360 (+)	-298 bp
Tssr152037	Chr18:77369372-77369392 (+)	-272 bp
Tssr5381	Chr18:77503281-77503294 (+)	133,634 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24