SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q7RTW8

- OTOAN_HUMAN

UniProt

Q7RTW8 - OTOAN_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Otoancorin

Gene
OTOA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

May act as an adhesion molecule.

GO - Biological processi

  1. cell-matrix adhesion Source: Ensembl
  2. sensory perception of sound Source: UniProtKB-KW
  3. transmission of nerve impulse Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Hearing

Names & Taxonomyi

Protein namesi
Recommended name:
Otoancorin
Gene namesi
Name:OTOA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:16378. OTOA.

Subcellular locationi

Apical cell membrane; Lipid-anchorGPI-anchor; Extracellular side Inferred. Secretedextracellular spaceextracellular matrix Inferred
Note: At the interface between the apical surface of the epithelia and the overlying acellular gel of the tectorial and otoconial membranes By similarity.

GO - Cellular componenti

  1. anchored component of membrane Source: UniProtKB-KW
  2. apical plasma membrane Source: UniProtKB-SubCell
  3. proteinaceous extracellular matrix Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Extracellular matrix, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 22 (DFNB22) [MIM:607039]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

MIMi607039. phenotype.
Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBiPA38403.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222 Reviewed predictionAdd
BLAST
Chaini23 – 11301108OtoancorinPRO_0000021971Add
BLAST
Propeptidei1131 – 115323Removed in mature form Reviewed predictionPRO_0000021972Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi156 – 1561N-linked (GlcNAc...) Reviewed prediction
Glycosylationi211 – 2111N-linked (GlcNAc...) (complex)1 Publication
Glycosylationi244 – 2441N-linked (GlcNAc...) Reviewed prediction
Glycosylationi289 – 2891N-linked (GlcNAc...) Reviewed prediction
Glycosylationi321 – 3211N-linked (GlcNAc...) Reviewed prediction
Glycosylationi394 – 3941N-linked (GlcNAc...) Reviewed prediction
Glycosylationi398 – 3981N-linked (GlcNAc...) Reviewed prediction
Glycosylationi460 – 4601N-linked (GlcNAc...) Reviewed prediction
Glycosylationi544 – 5441N-linked (GlcNAc...) Reviewed prediction
Glycosylationi812 – 8121N-linked (GlcNAc...) Reviewed prediction
Glycosylationi911 – 9111N-linked (GlcNAc...) Reviewed prediction
Glycosylationi974 – 9741N-linked (GlcNAc...) Reviewed prediction
Lipidationi1130 – 11301GPI-anchor amidated alanine Reviewed prediction

Keywords - PTMi

Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDbiQ7RTW8.
PRIDEiQ7RTW8.

PTM databases

PhosphoSiteiQ7RTW8.

Expressioni

Gene expression databases

ArrayExpressiQ7RTW8.
BgeeiQ7RTW8.
CleanExiHS_OTOA.
GenevestigatoriQ7RTW8.

Organism-specific databases

HPAiHPA041405.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000373610.

Structurei

3D structure databases

ProteinModelPortaliQ7RTW8.
SMRiQ7RTW8. Positions 401-446, 577-622.

Family & Domainsi

Sequence similaritiesi

Belongs to the stereocilin family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG27847.
HOGENOMiHOG000065777.
HOVERGENiHBG053381.
InParanoidiQ7RTW8.
OMAiNLWILGR.
OrthoDBiEOG79GT8H.
PhylomeDBiQ7RTW8.
TreeFamiTF336607.

Family and domain databases

InterProiIPR026663. Otoancorin.
IPR026664. Stereocilin_related.
[Graphical view]
PANTHERiPTHR23412. PTHR23412. 1 hit.
PTHR23412:SF14. PTHR23412:SF14. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

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

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q7RTW8-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MSQEPTTYSL FLFLFLSHGV SSYTVPNSRQ DLHPLLQNMA EEIIDGSYLN     50
ALLDLIQFQS SHVWTDDLSH RVLAYLNSRN VAFTIPSLQA AVENHLEQRL 100
HQPQKLLEDL RKTDAQQFRT AMKCLLEDKK DGLDLKDIII DLGEIRERAL 150
QSPGVNRSLF LITLERCFQM LNSLECVEIL GKVLRGSSGS FLQPDITERL 200
PRDLREDAFK NLSAVFKDLY DKTSAHSQRA LYSWMTGILQ TSSNATDDSA 250
SWVSAEHLWV LGRYMVHLSF EEITKISPIE IGLFISYDNA TKQLDMVYDI 300
TPELAQAFLE RISSSNFNMR NTSTIHRQAH ELWALEPFPK MLGLLVCFYN 350
DLELLDATVA QVLLYQMIKC SHLRGFQAGV QKLKAELLDI AMENQTLNET 400
LGSLSDAVVG LTYSQLESLS PEAVHGAIST LNQVSGWAKS QVIILSAKYL 450
AHEKVLSFYN VSQMGALLAG VSTQAFCSMK RKDISQVLRS AVSQYVSDLS 500
PAQQQGILSK MVQAEDTAPG IVEIQGAFFK EVSLFDLRRQ PGFNSTVLKD 550
KELGRSQALF LYELLLKTTR RPEELLSAGQ LVKGVTCSHI DAMSTDFFLA 600
HFQDFQNNFA LLSPYQVNCL AWKYWEVSRL SMPPFLLAAL PARYLASVPA 650
SQCVPFLISL GKSWLDSLVL DSHKKTSVLR KVQQCLDDSI ADEYTVDIMG 700
NLLCHLPAAI IDRGISPRAW ATALHGLRDC PDLNPEQKAA VRLKLLGQYG 750
LPQHWTAETT KDLGPFLVLF SGDELSSIAT KFPEILLQAA SKMARTLPTK 800
EFLWAVFQSV RNSSDKIPSY DPMPGCHGVV APSSDDIFKL AEANACWALE 850
DLRCMEEDTF IRTVELLGAV QGFSRPQLMT LKEKAIQVWD MPSYWREHHI 900
VSLGRIALAL NESELEQLDL SSIDTVASLS WQTEWTPGQA ESILQGYLDD 950
SGYSIQDLKS FHLVGLGATL CAINITEIPL IKISEFRVVV ARIGTLLCST 1000
HVLAEFKRKA EVVFGDPTEW TSSVLQELGT IAAGLTKAEL RMLDKDLMPY 1050
FQPSAIKCLP DEIFKELSAE QIASLGPENA AAVTHAQRRR LSPLQLQSLQ 1100
QALDGAKTHS WQDAPASAGP TRTSSSRSPA GALQSWGLWL GCPLLVLMAK 1150
LLW 1153
Length:1,153
Mass (Da):128,533
Last modified:December 15, 2003 - v1
Checksum:iD23E5767718021D7
GO
Isoform 2 (identifier: Q7RTW8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-338: Missing.
     339-341: PKM → MFR

Show »
Length:815
Mass (Da):89,914
Checksum:iA8EFF6FA5850C894
GO
Isoform 3 (identifier: Q7RTW8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-728: Missing.
     729-750: DCPDLNPEQKAAVRLKLLGQYG → MNVCKDSPRNKVNQKSKVMEKK

Show »
Length:425
Mass (Da):46,980
Checksum:iA17635E55BA47451
GO
Isoform 4 (identifier: Q7RTW8-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MSQEPTTYS → MGNSITYRD
     10-88: Missing.
     328-341: Missing.

Note: No experimental confirmation available.

Show »
Length:1,060
Mass (Da):117,880
Checksum:i816E440E9023D5D9
GO
Isoform 5 (identifier: Q7RTW8-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-341: Missing.

Note: No experimental confirmation available.

Show »
Length:1,139
Mass (Da):126,854
Checksum:i3B8E705089670E8C
GO

Sequence cautioni

The sequence AK057335 differs from that shown. Reason: Frameshift at position 1139.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 728728Missing in isoform 3. VSP_012211Add
BLAST
Alternative sequencei1 – 338338Missing in isoform 2. VSP_012212Add
BLAST
Alternative sequencei1 – 99MSQEPTTYS → MGNSITYRD in isoform 4. VSP_043345
Alternative sequencei10 – 8879Missing in isoform 4. VSP_043346Add
BLAST
Alternative sequencei328 – 34114Missing in isoform 4 and isoform 5. VSP_043347Add
BLAST
Alternative sequencei339 – 3413PKM → MFR in isoform 2. VSP_012213
Alternative sequencei729 – 75022DCPDL…LGQYG → MNVCKDSPRNKVNQKSKVME KK in isoform 3. VSP_012214Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1039 – 10391E → A in AAI29994. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK057335 mRNA. No translation available.
AK093062 mRNA. Translation: BAC04040.1.
AK125840 mRNA. Translation: BAG54255.1.
AC092719 Genomic DNA. No translation available.
BC129992 mRNA. Translation: AAI29993.1.
BC129993 mRNA. Translation: AAI29994.1.
BK000099 Genomic DNA. Translation: DAA00022.1.
CCDSiCCDS10600.2. [Q7RTW8-5]
CCDS32403.1. [Q7RTW8-2]
CCDS53994.1. [Q7RTW8-4]
RefSeqiNP_001155155.1. NM_001161683.1. [Q7RTW8-4]
NP_733764.1. NM_170664.2. [Q7RTW8-2]
UniGeneiHs.408336.

Genome annotation databases

EnsembliENST00000286149; ENSP00000286149; ENSG00000155719. [Q7RTW8-1]
ENST00000388956; ENSP00000373608; ENSG00000155719. [Q7RTW8-4]
ENST00000388957; ENSP00000373609; ENSG00000155719. [Q7RTW8-2]
ENST00000388958; ENSP00000373610; ENSG00000155719. [Q7RTW8-5]
GeneIDi146183.
KEGGihsa:146183.
UCSCiuc002dji.3. human. [Q7RTW8-2]
uc002dlh.3. human. [Q7RTW8-3]
uc010vbj.2. human. [Q7RTW8-4]
uc010vbk.2. human. [Q7RTW8-1]

Polymorphism databases

DMDMi56404568.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK057335 mRNA. No translation available.
AK093062 mRNA. Translation: BAC04040.1 .
AK125840 mRNA. Translation: BAG54255.1 .
AC092719 Genomic DNA. No translation available.
BC129992 mRNA. Translation: AAI29993.1 .
BC129993 mRNA. Translation: AAI29994.1 .
BK000099 Genomic DNA. Translation: DAA00022.1 .
CCDSi CCDS10600.2. [Q7RTW8-5 ]
CCDS32403.1. [Q7RTW8-2 ]
CCDS53994.1. [Q7RTW8-4 ]
RefSeqi NP_001155155.1. NM_001161683.1. [Q7RTW8-4 ]
NP_733764.1. NM_170664.2. [Q7RTW8-2 ]
UniGenei Hs.408336.

3D structure databases

ProteinModelPortali Q7RTW8.
SMRi Q7RTW8. Positions 401-446, 577-622.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000373610.

PTM databases

PhosphoSitei Q7RTW8.

Polymorphism databases

DMDMi 56404568.

Proteomic databases

PaxDbi Q7RTW8.
PRIDEi Q7RTW8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000286149 ; ENSP00000286149 ; ENSG00000155719 . [Q7RTW8-1 ]
ENST00000388956 ; ENSP00000373608 ; ENSG00000155719 . [Q7RTW8-4 ]
ENST00000388957 ; ENSP00000373609 ; ENSG00000155719 . [Q7RTW8-2 ]
ENST00000388958 ; ENSP00000373610 ; ENSG00000155719 . [Q7RTW8-5 ]
GeneIDi 146183.
KEGGi hsa:146183.
UCSCi uc002dji.3. human. [Q7RTW8-2 ]
uc002dlh.3. human. [Q7RTW8-3 ]
uc010vbj.2. human. [Q7RTW8-4 ]
uc010vbk.2. human. [Q7RTW8-1 ]

Organism-specific databases

CTDi 146183.
GeneCardsi GC16P021689.
GeneReviewsi OTOA.
HGNCi HGNC:16378. OTOA.
HPAi HPA041405.
MIMi 607038. gene.
607039. phenotype.
neXtProti NX_Q7RTW8.
Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBi PA38403.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG27847.
HOGENOMi HOG000065777.
HOVERGENi HBG053381.
InParanoidi Q7RTW8.
OMAi NLWILGR.
OrthoDBi EOG79GT8H.
PhylomeDBi Q7RTW8.
TreeFami TF336607.

Miscellaneous databases

GenomeRNAii 146183.
NextBioi 35460528.
PROi Q7RTW8.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q7RTW8.
Bgeei Q7RTW8.
CleanExi HS_OTOA.
Genevestigatori Q7RTW8.

Family and domain databases

InterProi IPR026663. Otoancorin.
IPR026664. Stereocilin_related.
[Graphical view ]
PANTHERi PTHR23412. PTHR23412. 1 hit.
PTHR23412:SF14. PTHR23412:SF14. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4).
    Tissue: Testis.
  2. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORM 5).
  4. "Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22."
    Zwaenepoel I., Mustapha M., Leibovici M., Verpy E., Goodyear R., Liu X.Z., Nouaille S., Nance W.E., Kanaan M., Avraham K.B., Tekaia F., Loiselet J., Lathrop M., Richardson G., Petit C.
    Proc. Natl. Acad. Sci. U.S.A. 99:6240-6245(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION (ISOFORM 1), INVOLVEMENT IN DFNB22.
  5. Cited for: GLYCOSYLATION AT ASN-211.

Entry informationi

Entry nameiOTOAN_HUMAN
AccessioniPrimary (citable) accession number: Q7RTW8
Secondary accession number(s): A1L3A8
, A2VDI0, B3KWU3, E9PF51, Q8NA86, Q96M76
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: December 15, 2003
Last modified: July 9, 2014
This is version 103 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 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi