Q7RTM1 (OTOP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Otopetrin-1

Gene names

Name:

OTOP1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	612 AA.
Sequence status	Complete.
Protein existence	Evidence 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. 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.

Ontologies

Keywords
Biological process	Biomineralization
Cellular component	Membrane Secreted
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	biomineral tissue development 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-KW
Complete GO annotation...

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	21	Helical; Potential
	Transmembrane	92 – 112	21	Helical; Potential
	Transmembrane	137 – 157	21	Helical; Potential
	Transmembrane	168 – 188	21	Helical; Potential
	Transmembrane	269 – 289	21	Helical; Potential
	Transmembrane	311 – 331	21	Helical; Potential
	Transmembrane	346 – 366	21	Helical; Potential
	Transmembrane	393 – 413	21	Helical; Potential
	Transmembrane	545 – 565	21	Helical; Potential
	Transmembrane	576 – 596	21	Helical; Potential
Natural variations
	Natural variant	241	1	I → V. Corresponds to variant rs28394859 [ dbSNP | Ensembl ].		VAR_037755
	Natural variant	309	1	D → E. Corresponds to variant rs2916414 [ dbSNP | Ensembl ].		VAR_037756
	Natural variant	434	1	V → M. Corresponds to variant rs11736799 [ dbSNP | Ensembl ].		VAR_037757
	Natural variant	493	1	K → T. Corresponds to variant rs34666677 [ dbSNP | Ensembl ].		VAR_037758
	Natural variant	516	1	Q → H. Corresponds to variant rs35106142 [ dbSNP | Ensembl ].		VAR_037759
Experimental info
	Sequence conflict	40	1	E → K in AAI30431. Ref.1
	Sequence conflict	40	1	E → K in AAI30433. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q7RTM1 [UniParc]. Last modified December 15, 2003. Version 1. Checksum: 7EF5C9F676D20D0F	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

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.

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.
IPI	IPI00251419.
RefSeq	NP_819056.1. NM_177998.1.
UniGene	Hs.534544.
3D structure databases
ProteinModelPortal	Q7RTM1.
ModBase	Search...
Protein-protein interaction databases
STRING	Q7RTM1.
Polymorphism databases
DMDM	74713136.
Proteomic databases
PRIDE	Q7RTM1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000296358; ENSP00000296358; ENSG00000163982.
GeneID	133060.
KEGG	hsa:133060.
UCSC	uc003ghp.1. human.
Organism-specific databases
CTD	133060.
GeneCards	GC04M004190.
H-InvDB	HIX0031520.
HGNC	HGNC:19656. OTOP1.
HPA	HPA035599.
MIM	607806. gene.
neXtProt	NX_Q7RTM1.
PharmGKB	PA134883507.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG09588.
GeneTree	ENSGT00530000063198.
HOGENOM	HBG715271.
HOVERGEN	HBG108223.
InParanoid	Q7RTM1.
OMA	HREPEKL.
OrthoDB	EOG415GD7.
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. Otopetrin. 3 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	83183.
SOURCE	Search...

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 25, 2012
This is version 53 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.