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Aliases for LOXHD1 Gene

Aliases for LOXHD1 Gene

  • Lipoxygenase Homology Domains 1 2 3
  • Deafness, Autosomal Recessive 77 2
  • DFNB77 3
  • LH2D1 3

External Ids for LOXHD1 Gene

Previous HGNC Symbols for LOXHD1 Gene

  • DFNB77

Previous GeneCards Identifiers for LOXHD1 Gene

  • GC18M042309
  • GC18M042310
  • GC18M044056
  • GC18M040914

Summaries for LOXHD1 Gene

Entrez Gene Summary for LOXHD1 Gene

  • This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for LOXHD1 Gene

LOXHD1 (Lipoxygenase Homology Domains 1) is a Protein Coding gene. Diseases associated with LOXHD1 include deafness, autosomal recessive 77 and dfnb77 nonsyndromic hearing loss and deafness. GO annotations related to this gene include calcium channel activity.

UniProtKB/Swiss-Prot for LOXHD1 Gene

  • Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOXHD1 Gene

Genomics for LOXHD1 Gene

Regulatory Elements for LOXHD1 Gene

Genomic Location for LOXHD1 Gene

Chromosome:
18
Start:
46,476,961 bp from pter
End:
46,657,114 bp from pter
Size:
180,154 bases
Orientation:
Minus strand

Genomic View for LOXHD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LOXHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOXHD1 Gene

Proteins for LOXHD1 Gene

  • Protein details for LOXHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVV2-LOXH1_HUMAN
    Recommended name:
    Lipoxygenase homology domain-containing protein 1
    Protein Accession:
    Q8IVV2
    Secondary Accessions:
    • B7WNN3
    • B7WNT1
    • B7WPI9
    • Q6ZRY7
    • Q86WW9
    • Q96DL7

    Protein attributes for LOXHD1 Gene

    Size:
    1947 amino acids
    Molecular mass:
    221947 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LOXHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LOXHD1 Gene

Proteomics data for LOXHD1 Gene at MOPED

Post-translational modifications for LOXHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LOXHD1 Gene

Domains & Families for LOXHD1 Gene

Protein Domains for LOXHD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LOXHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IVV2

UniProtKB/Swiss-Prot:

LOXH1_HUMAN :
  • Contains 14 PLAT domains.
Domain:
  • Contains 14 PLAT domains.
genes like me logo Genes that share domains with LOXHD1: view

No data available for Gene Families for LOXHD1 Gene

Function for LOXHD1 Gene

Molecular function for LOXHD1 Gene

UniProtKB/Swiss-Prot Function:
Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity).

Gene Ontology (GO) - Molecular Function for LOXHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IBA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with LOXHD1: view

Phenotypes for LOXHD1 Gene

genes like me logo Genes that share phenotypes with LOXHD1: view

Animal Model Products

miRNA for LOXHD1 Gene

miRTarBase miRNAs that target LOXHD1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LOXHD1 Gene

Localization for LOXHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LOXHD1 Gene

Cell projection, stereocilium.

Gene Ontology (GO) - Cellular Components for LOXHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IBA --
GO:0032420 stereocilium ISS --
genes like me logo Genes that share ontologies with LOXHD1: view

No data available for Subcellular locations from COMPARTMENTS for LOXHD1 Gene

Pathways & Interactions for LOXHD1 Gene

SuperPathways for LOXHD1 Gene

No Data Available

Interacting Proteins for LOXHD1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000300591%0d%0a9606.ENSP00000001008%0d%0a
Selected Interacting proteins: Q8IVV2-LOXH1_HUMAN ENSP00000300591 for LOXHD1 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for LOXHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IMP 19732867
GO:0050982 detection of mechanical stimulus IBA --
GO:0070588 calcium ion transmembrane transport IBA --
genes like me logo Genes that share ontologies with LOXHD1: view

No data available for Pathways by source and SIGNOR curated interactions for LOXHD1 Gene

Drugs & Compounds for LOXHD1 Gene

No Compound Related Data Available

Transcripts for LOXHD1 Gene

Unigene Clusters for LOXHD1 Gene

Lipoxygenase homology domains 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LOXHD1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LOXHD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^
SP1: - - - - - -
SP2: - - - -
SP3:
SP4:
SP5: - -
SP6: -
SP7:
SP8: - -

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c ^ 30a · 30b
SP1: - -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for LOXHD1 Gene

GeneLoc Exon Structure for
LOXHD1
ECgene alternative splicing isoforms for
LOXHD1

Expression for LOXHD1 Gene

mRNA expression in normal human tissues for LOXHD1 Gene

mRNA differential expression in normal tissues according to GTEx for LOXHD1 Gene

This gene is overexpressed in Testis (x18.1) and Whole Blood (x8.3).

Protein differential expression in normal tissues from HIPED for LOXHD1 Gene

This gene is overexpressed in Urine (60.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LOXHD1 Gene



SOURCE GeneReport for Unigene cluster for LOXHD1 Gene Hs.345877

genes like me logo Genes that share expression patterns with LOXHD1: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for LOXHD1 Gene

Orthologs for LOXHD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LOXHD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOXHD1 35
  • 89.93 (n)
  • 93.27 (a)
LOXHD1 36
  • 9 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOXHD1 35
  • 90.31 (n)
  • 93.76 (a)
LOXHD1 36
  • 51 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOXHD1 35
  • 98.04 (n)
  • 97.69 (a)
LOXHD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Loxhd1 35
  • 88.09 (n)
  • 93.62 (a)
mouse
(Mus musculus)
Mammalia Loxhd1 16
Loxhd1 36
  • 50 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LOXHD1 36
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LOXHD1 36
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOXHD1 35
  • 68.53 (n)
  • 65.66 (a)
LOXHD1 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LOXHD1 36
  • 31 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia loxhd1 35
  • 65.83 (n)
  • 61.76 (a)
zebrafish
(Danio rerio)
Actinopterygii loxhd1b 35
  • 64.9 (n)
  • 59.9 (a)
loxhd1a 36
  • 29 (a)
OneToMany
loxhd1b 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 16 (a)
OneToOne
Species with no ortholog for LOXHD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LOXHD1 Gene

ENSEMBL:
Gene Tree for LOXHD1 (if available)
TreeFam:
Gene Tree for LOXHD1 (if available)

Paralogs for LOXHD1 Gene

Pseudogenes.org Pseudogenes for LOXHD1 Gene

genes like me logo Genes that share paralogs with LOXHD1: view

No data available for Paralogs for LOXHD1 Gene

Variants for LOXHD1 Gene

Sequence variations from dbSNP and Humsavar for LOXHD1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs101940 -- 46,588,291(-) TCCCT(A/G)GCTAT intron-variant
rs101941 -- 46,588,480(-) GCTCG(C/T)ACACA intron-variant
rs167872 -- 46,580,515(-) GCTTA(C/T)TTTAA intron-variant
rs167873 -- 46,622,593(+) TGGAC(C/T)AGGGT intron-variant
rs170590 -- 46,586,308(-) gaaca(C/T)tttca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LOXHD1 Gene

Variant ID Type Subtype PubMed ID
nsv428355 CNV Gain 18775914
esv259974 OTHER Complex 20981092
esv25184 CNV Gain 19812545
nsv515609 CNV Gain 19592680

Variation tolerance for LOXHD1 Gene

Gene Damage Index Score: 15.35; 97.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LOXHD1 Gene

HapMap Linkage Disequilibrium report
LOXHD1
Human Gene Mutation Database (HGMD)
LOXHD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LOXHD1 Gene

Disorders for LOXHD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for LOXHD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 77
  • deafness, autosomal recessive, 77
dfnb77 nonsyndromic hearing loss and deafness
  • dfnb 63 nonsyndromic hearing loss and deafness
fuchs' endothelial dystrophy
  • fced
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association

UniProtKB/Swiss-Prot

LOXH1_HUMAN
  • Deafness, autosomal recessive, 77 (DFNB77) [MIM:613079]: A form of non-syndromic deafness characterized by preserved low-frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood. {ECO:0000269 PubMed:19732867}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LOXHD1

Genetic Association Database (GAD)
LOXHD1
Human Genome Epidemiology (HuGE) Navigator
LOXHD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LOXHD1
genes like me logo Genes that share disorders with LOXHD1: view

No data available for Genatlas for LOXHD1 Gene

Publications for LOXHD1 Gene

  1. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. (PMID: 19732867) Grillet N. … Mueller U. (Am. J. Hum. Genet. 2009) 2 67
  2. Mutations in LOXHD1 gene cause various types and severities of hearing loss. (PMID: 25792669) Mori K. … Usami S. (Ann. Otol. Rhinol. Laryngol. 2015) 67
  3. Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. (PMID: 22341973) Riazuddin S.A. … Gottsch J.D. (Am. J. Hum. Genet. 2012) 67
  4. A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. (PMID: 21465660) Edvardson S. … Elpeleg O. (Am. J. Med. Genet. A 2011) 67
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 67

Products for LOXHD1 Gene

Sources for LOXHD1 Gene

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