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Q7RTM1

- OTOP1_HUMAN

UniProt

Q7RTM1 - OTOP1_HUMAN

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Protein

Otopetrin-1

Gene

OTOP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

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).By similarity

GO - Biological processi

  1. biomineral tissue development Source: UniProtKB-KW
  2. detection of gravity Source: Ensembl
  3. inner ear morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Biomineralization

Names & Taxonomyi

Protein namesi
Recommended name:
Otopetrin-1
Gene namesi
Name:OTOP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:19656. OTOP1.

Subcellular locationi

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei67 – 8721HelicalSequence AnalysisAdd
BLAST
Transmembranei92 – 11221HelicalSequence AnalysisAdd
BLAST
Transmembranei137 – 15721HelicalSequence AnalysisAdd
BLAST
Transmembranei168 – 18821HelicalSequence AnalysisAdd
BLAST
Transmembranei269 – 28921HelicalSequence AnalysisAdd
BLAST
Transmembranei311 – 33121HelicalSequence AnalysisAdd
BLAST
Transmembranei346 – 36621HelicalSequence AnalysisAdd
BLAST
Transmembranei393 – 41321HelicalSequence AnalysisAdd
BLAST
Transmembranei545 – 56521HelicalSequence AnalysisAdd
BLAST
Transmembranei576 – 59621HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134883507.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 612612Otopetrin-1PRO_0000313816Add
BLAST

Proteomic databases

PaxDbiQ7RTM1.
PRIDEiQ7RTM1.

Expressioni

Gene expression databases

CleanExiHS_OTOP1.
GenevestigatoriQ7RTM1.

Organism-specific databases

HPAiHPA035599.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000296358.

Structurei

3D structure databases

ProteinModelPortaliQ7RTM1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the otopetrin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG265908.
GeneTreeiENSGT00530000063198.
HOGENOMiHOG000090257.
HOVERGENiHBG108223.
InParanoidiQ7RTM1.
OMAiAISHGIY.
OrthoDBiEOG72C4ZX.
PhylomeDBiQ7RTM1.
TreeFamiTF313428.

Family and domain databases

InterProiIPR004878. Otopetrin.
[Graphical view]
PANTHERiPTHR21522. PTHR21522. 1 hit.
PfamiPF03189. Otopetrin. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q7RTM1-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MLEGLGSPAS PRAAASASVA GSSGPAACSP PSSSAPRSPE SPAPRRGGVR
60 70 80 90 100
ASVPQKLAEM LSSQYGLIVF VAGLLLLLAW AVHAAGVSKS DLLCFLTALM
110 120 130 140 150
LLQLLWMLWY VGRSSAHRRL FRLKDTHAGA GWLRGSITLF AVITVILGCL
160 170 180 190 200
KIGYFIGFSE CLSATEGVFP VTHSVHTLLQ VYFLWGHAKD IIQSFKTLER
210 220 230 240 250
FGVIHSVFTN LLLWANGVLN ESKHQLNEHK ERLITLGFGN ITTVLDDHTP
260 270 280 290 300
QCNCTPPTLC TAISHGIYYL YPFNIEYQIL ASTMLYVLWK NIGRKVDSHQ
310 320 330 340 350
HQKMQFKSDG VMVGAVLGLT VLAATIAVVV VYLIHIGRSK TKSESALIMF
360 370 380 390 400
YLYAITLLML MGAAGLAGIR IYRIDEKSLD ESKNPARKLD SDLLVGTASG
410 420 430 440 450
SWLISWGSIL AILCAEGHPR YTWYNLPYSI LAIVEKYIQN LFIFESIHRE
460 470 480 490 500
PEKLSEDIQT LRVVTVCNGN TMPLASSCPK SGGVARDVAP QGKDMPPAAN
510 520 530 540 550
GNVCMRESHD KEEEKQEESS WGGSPSPVRL PRFLQGNAKR KVLRNIAAFL
560 570 580 590 600
FLCNISLWIP PAFGCRPEYD NGLEEIVFGF EPWIIVVNLA MPFSIFYRMH
610
AAASLFEVYC KI
Length:612
Mass (Da):67,353
Last modified:December 15, 2003 - v1
Checksum:i7EF5C9F676D20D0F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti40 – 401E → K in AAI30431. (PubMed:15489334)Curated
Sequence conflicti40 – 401E → K in AAI30433. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti241 – 2411I → V.
Corresponds to variant rs28394859 [ dbSNP | Ensembl ].
VAR_037755
Natural varianti309 – 3091D → E.
Corresponds to variant rs2916414 [ dbSNP | Ensembl ].
VAR_037756
Natural varianti434 – 4341V → M.
Corresponds to variant rs11736799 [ dbSNP | Ensembl ].
VAR_037757
Natural varianti493 – 4931K → T.
Corresponds to variant rs34666677 [ dbSNP | Ensembl ].
VAR_037758
Natural varianti516 – 5161Q → H.
Corresponds to variant rs35106142 [ dbSNP | Ensembl ].
VAR_037759

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC130430 mRNA. Translation: AAI30431.1.
BC130432 mRNA. Translation: AAI30433.1.
BK000653 mRNA. Translation: DAA00901.1.
BK000654 Genomic DNA. Translation: DAA00902.1.
CCDSiCCDS3372.1.
RefSeqiNP_819056.1. NM_177998.1.
UniGeneiHs.534544.

Genome annotation databases

EnsembliENST00000296358; ENSP00000296358; ENSG00000163982.
GeneIDi133060.
KEGGihsa:133060.
UCSCiuc003ghp.1. human.

Polymorphism databases

DMDMi74713136.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Protein Spotlight

Ear of stone - Issue 89 of December 2007

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC130430 mRNA. Translation: AAI30431.1 .
BC130432 mRNA. Translation: AAI30433.1 .
BK000653 mRNA. Translation: DAA00901.1 .
BK000654 Genomic DNA. Translation: DAA00902.1 .
CCDSi CCDS3372.1.
RefSeqi NP_819056.1. NM_177998.1.
UniGenei Hs.534544.

3D structure databases

ProteinModelPortali Q7RTM1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000296358.

Polymorphism databases

DMDMi 74713136.

Proteomic databases

PaxDbi Q7RTM1.
PRIDEi Q7RTM1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000296358 ; ENSP00000296358 ; ENSG00000163982 .
GeneIDi 133060.
KEGGi hsa:133060.
UCSCi uc003ghp.1. human.

Organism-specific databases

CTDi 133060.
GeneCardsi GC04M004190.
H-InvDB HIX0031520.
HGNCi HGNC:19656. OTOP1.
HPAi HPA035599.
MIMi 607806. gene.
neXtProti NX_Q7RTM1.
PharmGKBi PA134883507.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG265908.
GeneTreei ENSGT00530000063198.
HOGENOMi HOG000090257.
HOVERGENi HBG108223.
InParanoidi Q7RTM1.
OMAi AISHGIY.
OrthoDBi EOG72C4ZX.
PhylomeDBi Q7RTM1.
TreeFami TF313428.

Miscellaneous databases

GenomeRNAii 133060.
NextBioi 83183.
PROi Q7RTM1.
SOURCEi Search...

Gene expression databases

CleanExi HS_OTOP1.
Genevestigatori Q7RTM1.

Family and domain databases

InterProi IPR004878. Otopetrin.
[Graphical view ]
PANTHERi PTHR21522. PTHR21522. 1 hit.
Pfami PF03189. Otopetrin. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiOTOP1_HUMAN
AccessioniPrimary (citable) accession number: Q7RTM1
Secondary accession number(s): A1L476
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: December 15, 2003
Last modified: October 29, 2014
This is version 69 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3