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OTOL1 otolin 1 [ Homo sapiens (human) ]

Gene ID: 131149, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (161496808..161503942)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (164271581..164278718)
105.20220307 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
  • 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. A potential serological biomarker for inner ear pathologies: OTOLIN-1. Avallone E, et al. Acta Otorhinolaryngol Ital, 2022 Aug. PMID 36254652, Free PMC Article
  2. 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
  3. 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
  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_2023_10

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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