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    OTOL1 otolin 1 [ Homo sapiens (human) ]

    Gene ID: 131149, updated on 2-Nov-2024

    Summary

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    Official Symbol
    OTOL1provided by HGNC
    Official Full Name
    otolin 1provided by HGNC
    Primary source
    HGNC:HGNC:34071
    See related
    Ensembl:ENSG00000182447 AllianceGenome:HGNC:34071
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C1QTNF15; C1QTNF16
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See OTOL1 in Genome Data Viewer
    Location:
    3q26.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (161496808..161503942)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (164271581..164278718)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (161214596..161221730)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986150 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:161138438-161139086 Neighboring gene long intergenic non-protein coding RNA 2067 Neighboring gene ribosomal protein L23a pseudogene 42 Neighboring gene NANOG hESC enhancer GRCh37_chr3:161239249-161239878 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:161391567-161392552 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:161399217-161400416 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:161425075-161425576 Neighboring gene NANOG hESC enhancer GRCh37_chr3:161577576-161578142 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65796 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65864 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:161759312-161759863 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65908 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65925 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65935 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65957 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_66022 Neighboring gene uncharacterized LOC107986048 Neighboring gene uncharacterized LOC107986049

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1. Hołubowicz R, et al. Int J Mol Sci, 2021 Aug 23. PMID 34445792, Free PMC Article
    2. Serum otolin-1 as a biomarker for benign paroxysmal positional vertigo: a case-control study. Irugu DVK, et al. J Laryngol Otol, 2021 Jul. PMID 34137365
    3. C1q and tumor necrosis factor superfamily: modularity and versatility. Kishore U, et al. Trends Immunol, 2004 Oct. PMID 15364058
    4. A Relationship Between Blood Levels of Otolin-1 and Vitamin D. Parham K, et al. Otol Neurotol, 2018 Apr. PMID 29533337, Free PMC Article
    5. Age-Related Increase in Blood Levels of Otolin-1 in Humans. Tabtabai R, et al. Otol Neurotol, 2017 Jul. PMID 28498270, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A potential serological biomarker for inner ear pathologies: OTOLIN-1.
      Title: A potential serological biomarker for inner ear pathologies: OTOLIN-1.
    2. N'-terminal- and Ca(2+)-induced stabilization of high-order oligomers of full-length Danio rerio and Homo sapiens otolin-1.
      Title: N'-terminal- and Ca(2+)-induced stabilization of high-order oligomers of full-length Danio rerio and Homo sapiens otolin-1.
    3. Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1.
      Title: Natural Mutations Affect Structure and Function of gC1q Domain of Otolin-1.
    4. Molecular mechanism of calcium induced trimerization of C1q-like domain of otolin-1 from human and zebrafish.
      Title: Molecular mechanism of calcium induced trimerization of C1q-like domain of otolin-1 from human and zebrafish.
    5. Serum otolin-1 as a biomarker for benign paroxysmal positional vertigo: a case-control study.
      Title: Serum otolin-1 as a biomarker for benign paroxysmal positional vertigo: a case-control study.
    6. Our results demonstrate a relationship between vitamin D and otolin-1
      Title: A Relationship Between Blood Levels of Otolin-1 and Vitamin D.
    7. An expression and purification procedure for the C1q-like domain of human otolin-1 was developed. It forms stable trimers in solution in the presence of calcium ions. C1q-like domains were stabilized by the calcium ions.
      Title: Effect of calcium ions on structure and stability of the C1q-like domain of otolin-1 from human and zebrafish.
    8. calcium carbonate crystal growth data demonstrate that Otolin-1 and OC90 modulate in vitro calcite crystal morphology but neither protein is sufficient to produce the shape of otoconia
      Title: In vitro calcite crystal morphology is modulated by otoconial proteins otolin-1 and otoconin-90.
    9. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    10. Identification and functional characterization of a similar protein in zebrafish.
      Title: Otolith matrix proteins OMP-1 and Otolin-1 are necessary for normal otolith growth and their correct anchoring onto the sensory maculae.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of aging.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables extracellular matrix structural constituent conferring tensile strength IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in otolith mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein homooligomerization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    otolin-1
    Names
    C1q and TNF related 16
    C1q and tumor necrosis factor related protein 15

    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)

    1. NM_001080440.1 → NP_001073909.1  otolin-1 precursor

      See identical proteins and their annotated locations for NP_001073909.1

      Status: REVIEWED

      Source sequence(s)
      AC104471
      Consensus CDS
      CCDS46948.1
      UniProtKB/Swiss-Prot
      A6NHN0
      Related
      ENSP00000330808.4, ENST00000327928.4
      Conserved Domains (2) summary
      smart00110
      Location:341 → 469
      C1Q; Complement component C1q domain
      pfam01391
      Location:116 → 175
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      161496808..161503942
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      164271581..164278718
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NHN0.1 GenPept UniProtKB/Swiss-Prot:A6NHN0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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