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Reviewed, UniProtKB/Swiss-Prot Q7RTM1 (OTOP1_HUMAN)

Last modified July 22, 2008. Version 23. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

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

Protein attributes

Sequence length612 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
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

Gene Ontology (GO)

None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical view

Molecule processing

Chain1 – 612612Otopetrin-1

Regions

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

Natural variations

Natural variant2411I → V: dbSNP rs28394859.
Natural variant3091D → E: dbSNP rs2916414.
Natural variant4341V → M: dbSNP rs11736799.
Natural variant4931K → T: dbSNP rs34666677.
Natural variant5161Q → H: dbSNP rs35106142.

Experimental info

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

Sequences

Sequence LengthMass (Da)Tools
Q7RTM1-1 [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: 15489334] [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: 12651873] [Abstract]
Cited for: IDENTIFICATION.

Web resources

Protein Spotlight

Ear of stone - Issue 89 of December 2007

Cross-references

Sequence databases

BC130430 mRNA. Translation: AAI30431.1.
BC130432 mRNA. Translation: AAI30433.1.
BK000653 mRNA. Translation: DAA00901.1.
BK000654 Genomic DNA. Translation: DAA00902.1.
RefSeqNP_819056.1.
UniGeneHs.534544

3D structure databases

ModBaseSearch...

Genome annotation databases

EnsemblENSG00000163982. Homo sapiens. [Contig view]
GeneID133060.
KEGGhsa:133060.

Organism-specific databases

HGNCHGNC:19656. OTOP1.
MIM607806. gene.
PharmGKBPA134883507.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ7RTM1.
HOVERGENQ7RTM1.

Gene expression databases

ArrayExpressQ7RTM1.
CleanExHS_OTOP1.

Family and domain databases

InterProIPR004878. DUF270.
[Graphical view]
PANTHERPTHR21522. DUF270. 1 hit.
ProDomQ7RTM1.
[Graphical view] [Entries sharing at least one domain]
BLOCKSSearch...

Other Resources

SOURCESearch...
ProtoNetSearch...

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 22, 2008
This is version 23 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 4

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents