Otopetrin-1 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q7RTM1 (OTOP1_HUMAN)

Last modified January 19, 2010. Version 38. History...

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

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Names and origin

Protein names

Recommended name:
Otopetrin-1

Gene names

Name:

OTOP1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	612 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level.

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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. Secreted › extracellular 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.

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Ontologies

Keywords
Biological process	Biomineralization
Cellular component	Membrane Secreted
Coding sequence diversity	Polymorphism
Domain	Transmembrane
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	biomineral formation Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	extracellular space Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 612

612

Otopetrin-1

PRO_0000313816

Regions

Transmembrane

67 – 87

Potential

Transmembrane

92 – 112

Potential

Transmembrane

137 – 157

Potential

Transmembrane

168 – 188

Potential

Transmembrane

269 – 289

Potential

Transmembrane

311 – 331

Potential

Transmembrane

346 – 366

Potential

Transmembrane

393 – 413

Potential

Transmembrane

545 – 565

Potential

Transmembrane

576 – 596

Potential

Natural variations

Natural variant

241

I → V: dbSNP rs28394859.

VAR_037755

Natural variant

309

D → E: dbSNP rs2916414.

VAR_037756

Natural variant

434

V → M: dbSNP rs11736799.

VAR_037757

Natural variant

493

K → T: dbSNP rs34666677.

VAR_037758

Natural variant

516

Q → H: dbSNP rs35106142.

VAR_037759

Experimental info

Sequence conflict

E → K in AAI30431. Ref.1

Sequence conflict

E → K in AAI30433. Ref.1

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Sequences

Sequence

Length

Mass (Da)

Tools

Q7RTM1-1 [UniParc].

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

FASTA

612

67,353

        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

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References

	« Hide 'large scale' referencesShow '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.

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Web resources

Protein Spotlight

Ear of stone - Issue 89 of December 2007

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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.
IPI	IPI00251419.
RefSeq	NP_819056.1.
UniGene	Hs.534544
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q7RTM1.
Proteomic databases
PRIDE	Q7RTM1.
Genome annotation databases
Ensembl	ENST00000296358; ENSP00000296358; ENSG00000163982; Homo sapiens. [Genome view]
GeneID	133060.
KEGG	hsa:133060.
UCSC	uc003ghp.1. human.
Organism-specific databases
CTD	133060.
GeneCards	GC04M004241.
HGNC	HGNC:19656. OTOP1.
MIM	607806. gene.
PharmGKB	PA134883507.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG09588.
HOGENOM	HBG715271.
HOVERGEN	Q7RTM1.
InParanoid	Q7RTM1.
OMA	SHGIYYL.
OrthoDB	EOG9M682R.
PhylomeDB	Q7RTM1.
Gene expression databases
ArrayExpress	Q7RTM1.
CleanEx	HS_OTOP1.
Genevestigator	Q7RTM1.
Family and domain databases
InterPro	IPR004878. Otopetrin. [Graphical view]
PANTHER	PTHR21522. DUF270. 1 hit.
Pfam	PF03189. DUF270. 3 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	83183.
SOURCE	Search...

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Entry information

Entry name

OTOP1_HUMAN

Accession

Primary (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:	January 19, 2010
This is version 38 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.

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