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Protein

Otospiralin

Gene

OTOS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

May be essential for the survival of the neurosensory epithelium of the inner ear.By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Otospiralin
Gene namesi
Name:OTOS
Synonyms:OTOSP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:22644. OTOS.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134906408.

Polymorphism and mutation databases

BioMutaiOTOS.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence analysisAdd
BLAST
Chaini22 – 8968OtospiralinPRO_0000021976Add
BLAST

Proteomic databases

PaxDbiQ8NHW6.

Expressioni

Tissue specificityi

Ear specific.

Gene expression databases

BgeeiQ8NHW6.
CleanExiHS_OTOS.
GenevisibleiQ8NHW6. HS.

Structurei

3D structure databases

ProteinModelPortaliQ8NHW6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the otospiralin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J2XA. Eukaryota.
ENOG41122J4. LUCA.
GeneTreeiENSGT00390000011600.
HOGENOMiHOG000261689.
HOVERGENiHBG053382.
InParanoidiQ8NHW6.
OMAiYPQLEDM.
OrthoDBiEOG7P2XVK.
PhylomeDBiQ8NHW6.
TreeFamiTF336889.

Family and domain databases

InterProiIPR028224. Otospiralin.
[Graphical view]
PfamiPF15182. OTOS. 1 hit.
[Graphical view]
ProDomiPD684821. PD684821. 1 hit.
[Graphical view] [Entries sharing at least one domain]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8NHW6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQACMVPGLA LCLLLGPLAG AKPVQEEGDP YAELPAMPYW PFSTSDFWNY
60 70 80
VQHFQALGAY PQIEDMARTF FAHFPLGSTL GFHVPYQED
Length:89
Mass (Da):9,939
Last modified:October 1, 2002 - v1
Checksum:i42637BEBABCC4083
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71P → L.1 Publication
Corresponds to variant rs35889242 [ dbSNP | Ensembl ].
VAR_020601

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY062256 Genomic DNA. Translation: AAL47489.1.
AC013469 Genomic DNA. Translation: AAY14739.1.
BC105085 mRNA. Translation: AAI05086.1.
BC105087 mRNA. Translation: AAI05088.1.
CCDSiCCDS2533.1.
RefSeqiNP_683764.1. NM_148961.3.
UniGeneiHs.148586.

Genome annotation databases

EnsembliENST00000319460; ENSP00000322486; ENSG00000178602.
ENST00000391989; ENSP00000375849; ENSG00000178602.
GeneIDi150677.
KEGGihsa:150677.
UCSCiuc002vyv.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY062256 Genomic DNA. Translation: AAL47489.1.
AC013469 Genomic DNA. Translation: AAY14739.1.
BC105085 mRNA. Translation: AAI05086.1.
BC105087 mRNA. Translation: AAI05088.1.
CCDSiCCDS2533.1.
RefSeqiNP_683764.1. NM_148961.3.
UniGeneiHs.148586.

3D structure databases

ProteinModelPortaliQ8NHW6.
ModBaseiSearch...
MobiDBiSearch...

Polymorphism and mutation databases

BioMutaiOTOS.

Proteomic databases

PaxDbiQ8NHW6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319460; ENSP00000322486; ENSG00000178602.
ENST00000391989; ENSP00000375849; ENSG00000178602.
GeneIDi150677.
KEGGihsa:150677.
UCSCiuc002vyv.3. human.

Organism-specific databases

CTDi150677.
GeneCardsiOTOS.
HGNCiHGNC:22644. OTOS.
MIMi607877. gene.
neXtProtiNX_Q8NHW6.
PharmGKBiPA134906408.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J2XA. Eukaryota.
ENOG41122J4. LUCA.
GeneTreeiENSGT00390000011600.
HOGENOMiHOG000261689.
HOVERGENiHBG053382.
InParanoidiQ8NHW6.
OMAiYPQLEDM.
OrthoDBiEOG7P2XVK.
PhylomeDBiQ8NHW6.
TreeFamiTF336889.

Miscellaneous databases

GenomeRNAii150677.
NextBioi86488.
PROiQ8NHW6.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NHW6.
CleanExiHS_OTOS.
GenevisibleiQ8NHW6. HS.

Family and domain databases

InterProiIPR028224. Otospiralin.
[Graphical view]
PfamiPF15182. OTOS. 1 hit.
[Graphical view]
ProDomiPD684821. PD684821. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Down regulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness."
    Delprat B., Boulanger A.M., Wang J., Beaudoin V., Guitton M.J., Venteo S., Dechesne C.J., Pujol R., Lavigne-Rebillard M., Puel J.-L., Hamel C.P.
    J. Neurosci. 22:1718-1725(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin."
    Lavigne-Rebillard M., Delprat B., Surget M.-O., Griffoin J.-M., Weil D., Arbones M., Vincent R., Hamel C.P.
    Neurogenetics 4:137-140(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LEU-7.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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].
    Tissue: Brain.

Entry informationi

Entry nameiOTOSP_HUMAN
AccessioniPrimary (citable) accession number: Q8NHW6
Secondary accession number(s): Q53SW6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: October 1, 2002
Last modified: November 11, 2015
This is version 75 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.