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Q7RTM1 (OTOP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Otopetrin-1
Gene names
Name:OTOP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length612 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Required for normal formation of otoconia in the inner ear. Inhibits P2Y purinoceptors. Modulates calcium homeostasis and influx of calcium in response to extracellular ATP By similarity.

Subcellular location

Membrane; Multi-pass membrane protein. Secretedextracellular space. Note: Detected in the gelatinous membrane overlying the inner ear macular epithelium By similarity.

Miscellaneous

Otoconia are minute biomineral particles embedded in a gelatinous membrane that overlies the sensory epithelium in the inner ear. Gravity and acceleration cause the octoconia to deflect the stereocilia of sensory hair cells. Otoconia are required for normal processing of information regarding spatial orientation and acceleration.

Sequence similarities

Belongs to the otopetrin family.

Ontologies

Keywords
   Biological processBiomineralization
   Cellular componentMembrane
Secreted
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbiomineral tissue development

Inferred from electronic annotation. Source: UniProtKB-KW

detection of gravity

Inferred from electronic annotation. Source: Ensembl

inner ear morphogenesis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentextracellular space

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 612612Otopetrin-1
PRO_0000313816

Regions

Transmembrane67 – 8721Helical; Potential
Transmembrane92 – 11221Helical; Potential
Transmembrane137 – 15721Helical; Potential
Transmembrane168 – 18821Helical; Potential
Transmembrane269 – 28921Helical; Potential
Transmembrane311 – 33121Helical; Potential
Transmembrane346 – 36621Helical; Potential
Transmembrane393 – 41321Helical; Potential
Transmembrane545 – 56521Helical; Potential
Transmembrane576 – 59621Helical; Potential

Natural variations

Natural variant2411I → V.
Corresponds to variant rs28394859 [ dbSNP | Ensembl ].
VAR_037755
Natural variant3091D → E.
Corresponds to variant rs2916414 [ dbSNP | Ensembl ].
VAR_037756
Natural variant4341V → M.
Corresponds to variant rs11736799 [ dbSNP | Ensembl ].
VAR_037757
Natural variant4931K → T.
Corresponds to variant rs34666677 [ dbSNP | Ensembl ].
VAR_037758
Natural variant5161Q → H.
Corresponds to variant rs35106142 [ dbSNP | Ensembl ].
VAR_037759

Experimental info

Sequence conflict401E → K in AAI30431. Ref.1
Sequence conflict401E → K in AAI30433. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q7RTM1 [UniParc].

Last modified December 15, 2003. Version 1.
Checksum: 7EF5C9F676D20D0F

FASTA61267,353
        10         20         30         40         50         60 
MLEGLGSPAS PRAAASASVA GSSGPAACSP PSSSAPRSPE SPAPRRGGVR ASVPQKLAEM 

        70         80         90        100        110        120 
LSSQYGLIVF VAGLLLLLAW AVHAAGVSKS DLLCFLTALM LLQLLWMLWY VGRSSAHRRL 

       130        140        150        160        170        180 
FRLKDTHAGA GWLRGSITLF AVITVILGCL KIGYFIGFSE CLSATEGVFP VTHSVHTLLQ 

       190        200        210        220        230        240 
VYFLWGHAKD IIQSFKTLER FGVIHSVFTN LLLWANGVLN ESKHQLNEHK ERLITLGFGN 

       250        260        270        280        290        300 
ITTVLDDHTP QCNCTPPTLC TAISHGIYYL YPFNIEYQIL ASTMLYVLWK NIGRKVDSHQ 

       310        320        330        340        350        360 
HQKMQFKSDG VMVGAVLGLT VLAATIAVVV VYLIHIGRSK TKSESALIMF YLYAITLLML 

       370        380        390        400        410        420 
MGAAGLAGIR IYRIDEKSLD ESKNPARKLD SDLLVGTASG SWLISWGSIL AILCAEGHPR 

       430        440        450        460        470        480 
YTWYNLPYSI LAIVEKYIQN LFIFESIHRE PEKLSEDIQT LRVVTVCNGN TMPLASSCPK 

       490        500        510        520        530        540 
SGGVARDVAP QGKDMPPAAN GNVCMRESHD KEEEKQEESS WGGSPSPVRL PRFLQGNAKR 

       550        560        570        580        590        600 
KVLRNIAAFL FLCNISLWIP PAFGCRPEYD NGLEEIVFGF EPWIIVVNLA MPFSIFYRMH 

       610 
AAASLFEVYC KI 

« Hide

References

« Hide 'large scale' references
[1]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]"Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1."
Hurle B., Ignatova E., Massironi S.M., Mashimo T., Rios X., Thalmann I., Thalmann R., Ornitz D.M.
Hum. Mol. Genet. 12:777-789(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.

Web resources

Protein Spotlight

Ear of stone - Issue 89 of December 2007

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BC130430 mRNA. Translation: AAI30431.1.
BC130432 mRNA. Translation: AAI30433.1.
BK000653 mRNA. Translation: DAA00901.1.
BK000654 Genomic DNA. Translation: DAA00902.1.
CCDSCCDS3372.1.
RefSeqNP_819056.1. NM_177998.1.
UniGeneHs.534544.

3D structure databases

ProteinModelPortalQ7RTM1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000296358.

Polymorphism databases

DMDM74713136.

Proteomic databases

PaxDbQ7RTM1.
PRIDEQ7RTM1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296358; ENSP00000296358; ENSG00000163982.
GeneID133060.
KEGGhsa:133060.
UCSCuc003ghp.1. human.

Organism-specific databases

CTD133060.
GeneCardsGC04M004190.
H-InvDBHIX0031520.
HGNCHGNC:19656. OTOP1.
HPAHPA035599.
MIM607806. gene.
neXtProtNX_Q7RTM1.
PharmGKBPA134883507.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG265908.
HOGENOMHOG000090257.
HOVERGENHBG108223.
InParanoidQ7RTM1.
OMAAISHGIY.
OrthoDBEOG72C4ZX.
PhylomeDBQ7RTM1.
TreeFamTF313428.

Gene expression databases

CleanExHS_OTOP1.
GenevestigatorQ7RTM1.

Family and domain databases

InterProIPR004878. Otopetrin.
[Graphical view]
PANTHERPTHR21522. PTHR21522. 1 hit.
PfamPF03189. Otopetrin. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi133060.
NextBio83183.
PROQ7RTM1.
SOURCESearch...

Entry information

Entry nameOTOP1_HUMAN
AccessionPrimary (citable) accession number: Q7RTM1
Secondary accession number(s): A1L476
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: December 15, 2003
Last modified: July 9, 2014
This is version 67 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM