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Aliases for OTOL1 Gene

Aliases for OTOL1 Gene

  • Otolin 1 2 3 5
  • C1q And TNF Related 16 2 3
  • C1q And Tumor Necrosis Factor Related Protein 15 3
  • Otolin 1 Homolog (Zebrafish) 2
  • C1QTNF15 3
  • C1QTNF16 3
  • Otolin-1 3

External Ids for OTOL1 Gene

Previous GeneCards Identifiers for OTOL1 Gene

  • GC03P162698
  • GC03P161214
  • GC03P158613

Summaries for OTOL1 Gene

Entrez Gene Summary for OTOL1 Gene

  • This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017]

GeneCards Summary for OTOL1 Gene

OTOL1 (Otolin 1) is a Protein Coding gene. An important paralog of this gene is COL10A1.

Additional gene information for OTOL1 Gene

No data available for CIViC 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

Enhancers for OTOL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H161861 0.3 FANTOM5 5.6 +432.2 432235 0 OTOL1 ENSG00000240354 GC03P161910
GH03H161803 0.3 FANTOM5 5.6 +374.3 374266 0 OTOL1 ENSG00000240354 RPL23AP42
GH03H161653 0.3 FANTOM5 4.4 +223.9 223940 0 OTOL1 ENSG00000240354 RPL23AP42
GH03H161231 0.5 FANTOM5 1.8 -198.1 -198062 0 NONO ZBTB40 PSMC1P7 RPL23AP42 OTOL1 ENSG00000271052 LOC105374187
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OTOL1 on UCSC Golden Path with GeneCards custom track

Promoters for OTOL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000161309 -200 399

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

Post-translational modifications for OTOL1 Gene

  • Glycosylation at Asn202 and Asn381
  • 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

Gene Families for OTOL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

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 :
  • Belongs to the OTOL1 family.
Family:
  • Belongs to the OTOL1 family.
genes like me logo Genes that share domains with OTOL1: view

Function for OTOL1 Gene

Phenotypes From GWAS Catalog for OTOL1 Gene

Animal Model Products

CRISPR Products

miRNA for OTOL1 Gene

miRTarBase miRNAs that target OTOL1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for OTOL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005576 extracellular region IEA --
GO:0005581 collagen trimer IEA --
genes like me logo Genes that share ontologies with OTOL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OTOL1 Gene

Pathways & Interactions for OTOL1 Gene

SuperPathways for OTOL1 Gene

No Data Available

Interacting Proteins for OTOL1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000330808%0d%0a9606.ENSP00000363019%0d%0a9606.ENSP00000379931%0d%0a
Selected Interacting proteins: A6NHN0-OTOL1_HUMAN ENSP00000330808 for OTOL1 Gene via IID STRING

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

(1) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for OTOL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for OTOL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OTOL1 Gene:

OTOL1

SOURCE GeneReport for Unigene cluster for OTOL1 Gene:

Hs.585021
genes like me logo Genes that share expression patterns with OTOL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia OTOL1 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia OTOL1 33 34
  • 84.17 (n)
cow
(Bos Taurus)
Mammalia OTOL1 33 34
  • 82.77 (n)
rat
(Rattus norvegicus)
Mammalia Otol1 33
  • 77.28 (n)
mouse
(Mus musculus)
Mammalia Otol1 33 16 34
  • 76.57 (n)
oppossum
(Monodelphis domestica)
Mammalia OTOL1 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OTOL1 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTOL1 33 34
  • 62.07 (n)
lizard
(Anolis carolinensis)
Reptilia OTOL1 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495841 33
  • 64.66 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC572364 33
  • 53.29 (n)
otol1a 34
  • 45 (a)
OneToMany
OTOL1 (3 of 3) 34
  • 43 (a)
OneToMany
CABZ01067232.1 34
  • 31 (a)
OneToMany
Species where no ortholog for OTOL1 was found in the sources mined by GeneCards:
  • 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
rs1000032899 -- 161,495,733(+) ATCAT(C/T)GTCAT upstream-variant-2KB
rs1000059774 -- 161,495,496(+) TTCTA(C/T)TCGTT upstream-variant-2KB
rs1000836708 -- 161,500,013(+) TAAAG(A/G)TACTG intron-variant
rs1000907687 -- 161,501,445(+) TTTTA(A/T)GGTAA intron-variant
rs1001283096 -- 161,498,153(+) AATTA(C/T)ATTTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv3598407 CNV gain 21293372
nsv592128 CNV loss 21841781
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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 60
  2. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 3 4 60
  3. 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 (Mechanisms of development 2005) 2 3 60
  4. Age-related Increase in Blood Levels of Otolin-1 in Humans. (PMID: 28498270) Tabtabai R … Parham K (Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2017) 3 60
  5. In vitro calcite crystal morphology is modulated by otoconial proteins otolin-1 and otoconin-90. (PMID: 24748133) Moreland KT … Thalmann R (PloS one 2014) 3 60

Products for OTOL1 Gene

Sources for OTOL1 Gene

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