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Aliases for OTOL1 Gene

Aliases for OTOL1 Gene

  • Otolin 1 2 3 5
  • C1q And Tumor Necrosis Factor Related Protein 15 2 3
  • Otolin 1 Homolog (Zebrafish) 2
  • Otolin 1 Homolog 3
  • C1QTNF15 3

External Ids for OTOL1 Gene

Previous GeneCards Identifiers for OTOL1 Gene

  • GC03P162698
  • GC03P161214
  • GC03P158613

Summaries for OTOL1 Gene

GeneCards Summary for OTOL1 Gene

OTOL1 (Otolin 1) is a Protein Coding gene. An important paralog of this gene is COL8A1.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTOL1 Gene

Genomics for OTOL1 Gene

Regulatory Elements for OTOL1 Gene

Promoters for OTOL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OTOL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for OTOL1 Gene

Chromosome:
3
Start:
161,429,601 bp from pter
End:
161,503,975 bp from pter
Size:
74,375 bases
Orientation:
Plus strand

Genomic View for OTOL1 Gene

Genes around OTOL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTOL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTOL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTOL1 Gene

Proteins for OTOL1 Gene

  • Protein details for OTOL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NHN0-OTOL1_HUMAN
    Recommended name:
    Otolin-1
    Protein Accession:
    A6NHN0

    Protein attributes for OTOL1 Gene

    Size:
    477 amino acids
    Molecular mass:
    49422 Da
    Quaternary structure:
    • Interacts with OC90.

neXtProt entry for OTOL1 Gene

Proteomics data for OTOL1 Gene at MOPED

Post-translational modifications for OTOL1 Gene

  • Glycosylation at Asn 202 and Asn 381
  • Modification sites at PhosphoSitePlus

Other Protein References for OTOL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OTOL1 Gene

Domains & Families for OTOL1 Gene

Protein Domains for OTOL1 Gene

Suggested Antigen Peptide Sequences for OTOL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NHN0

UniProtKB/Swiss-Prot:

OTOL1_HUMAN :
  • Contains 1 C1q domain.
  • Belongs to the OTOL1 family.
Domain:
  • Contains 1 C1q domain.
  • Contains 3 collagen-like domains.
Family:
  • Belongs to the OTOL1 family.
genes like me logo Genes that share domains with OTOL1: view

No data available for Gene Families for OTOL1 Gene

Function for OTOL1 Gene

Animal Model Products

miRNA for OTOL1 Gene

miRTarBase miRNAs that target OTOL1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OTOL1 Gene

Localization for OTOL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTOL1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OTOL1 Gene COMPARTMENTS Subcellular localization image for OTOL1 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for OTOL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005581 collagen trimer IEA --
genes like me logo Genes that share ontologies with OTOL1: view

Pathways & Interactions for OTOL1 Gene

SuperPathways for OTOL1 Gene

No Data Available

Interacting Proteins for OTOL1 Gene

Gene Ontology (GO) - Biological Process for OTOL1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for OTOL1 Gene

Drugs & Compounds for OTOL1 Gene

No Compound Related Data Available

Transcripts for OTOL1 Gene

mRNA/cDNA for OTOL1 Gene

(2) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OTOL1 Gene

Otolin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OTOL1 Gene

No ASD Table

Relevant External Links for OTOL1 Gene

GeneLoc Exon Structure for
OTOL1
ECgene alternative splicing isoforms for
OTOL1

Expression for OTOL1 Gene

mRNA expression in normal human tissues for OTOL1 Gene

mRNA differential expression in normal tissues according to GTEx for OTOL1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x13.0), Brain - Amygdala (x8.9), Brain - Anterior cingulate cortex (BA24) (x7.4), Brain - Hippocampus (x7.2), and Brain - Cortex (x7.1).

Protein differential expression in normal tissues from HIPED for OTOL1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OTOL1 Gene



SOURCE GeneReport for Unigene cluster for OTOL1 Gene Hs.585021

genes like me logo Genes that share expression patterns with OTOL1: view

Protein tissue co-expression partners for OTOL1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for OTOL1 Gene

Orthologs for OTOL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OTOL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia OTOL1 35
  • 82.77 (n)
  • 78.94 (a)
OTOL1 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OTOL1 35
  • 84.17 (n)
  • 81.48 (a)
OTOL1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Otol1 35
  • 76.57 (n)
  • 71.76 (a)
Otol1 16
Otol1 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OTOL1 35
  • 99.79 (n)
  • 99.79 (a)
OTOL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otol1 35
  • 77.28 (n)
  • 72.61 (a)
oppossum
(Monodelphis domestica)
Mammalia OTOL1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OTOL1 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTOL1 35
  • 62.07 (n)
  • 60.89 (a)
OTOL1 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTOL1 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495841 35
  • 64.66 (n)
  • 60.78 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC572364 35
  • 53.29 (n)
  • 49.34 (a)
CABZ01067232.1 36
  • 31 (a)
OneToMany
OTOL1 (3 of 3) 36
  • 43 (a)
OneToMany
otol1a 36
  • 45 (a)
OneToMany
Species with no ortholog for OTOL1:
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 OTOL1 Gene

ENSEMBL:
Gene Tree for OTOL1 (if available)
TreeFam:
Gene Tree for OTOL1 (if available)

Paralogs for OTOL1 Gene

(15) SIMAP similar genes for OTOL1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with OTOL1: view

Variants for OTOL1 Gene

Sequence variations from dbSNP and Humsavar for OTOL1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs3921595 - 161,503,917(+) CCCAG(A/C/T)GGAAA reference, missense
rs365018 -- 161,459,219(-) gattt(A/T)cttta intron-variant
rs336578 -- 161,463,108(-) tatac(C/G)cacca intron-variant
rs339110 -- 161,479,689(-) AGGAA(A/G)GTTAC intron-variant
rs395973 -- 161,479,263(-) tctgt(C/T)taaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OTOL1 Gene

Variant ID Type Subtype PubMed ID
nsv877710 CNV Gain 21882294
nsv829773 CNV Gain 17160897

Variation tolerance for OTOL1 Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.05; 96.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OTOL1 Gene

HapMap Linkage Disequilibrium report
OTOL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTOL1 Gene

Disorders for OTOL1 Gene

Relevant External Links for OTOL1

Genetic Association Database (GAD)
OTOL1
Human Genome Epidemiology (HuGE) Navigator
OTOL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OTOL1

No disorders were found for OTOL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OTOL1 Gene

Publications for OTOL1 Gene

  1. C1q and its growing family. (PMID: 17544811) Ghai R. … Kishore U. (Immunobiology 2007) 2 3 67
  2. Otolith matrix proteins OMP-1 and Otolin-1 are necessary for normal otolith growth and their correct anchoring onto the sensory maculae. (PMID: 15905077) Murayama E. … Nagasawa H. (Mech. Dev. 2005) 2 3
  3. In vitro calcite crystal morphology is modulated by otoconial proteins otolin-1 and otoconin-90. (PMID: 24748133) Moreland K.T. … Thalmann R. (PLoS ONE 2014) 3
  4. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PMID: 20966902) Croteau-Chonka D.C. … Mohlke K.L. (Obesity (Silver Spring) 2011) 3
  5. A genome-wide association study of aging. (PMID: 21782286) Walter S. … Franceschini N. (Neurobiol. Aging 2011) 3

Products for OTOL1 Gene

Sources for OTOL1 Gene

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