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Entry version 119 (31 Jul 2019)
Sequence version 3 (25 Nov 2008)
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Protein

Otogelin

Gene

OTOG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Otogelin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OTOG
Synonyms:OTGN
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8516 OTOG

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604487 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZRI0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 18B (DFNB18B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by a moderate hearing impairment, which can be associated with vestibular dysfunction, and a flat to shallow "U" or slightly downsloping shaped audiograms.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0692502116P → L in DFNB18B. 1 PublicationCorresponds to variant dbSNP:rs397514607EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
340990

MalaCards human disease database

More...
MalaCardsi
OTOG
MIMi614945 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000188162

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OTOG

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215274227

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000031214823 – 2925OtogelinAdd BLAST2903

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi106 ↔ 120By similarity
Disulfide bondi114 ↔ ?126By similarity
Disulfide bondi128 ↔ 138By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi914N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1478N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1612N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2840 ↔ 2889By similarity
Disulfide bondi2854 ↔ 2903By similarity
Disulfide bondi2865 ↔ 2920By similarity
Disulfide bondi2869 ↔ 2922By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated. Not O-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6ZRI0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6ZRI0

PeptideAtlas

More...
PeptideAtlasi
Q6ZRI0

PRoteomics IDEntifications database

More...
PRIDEi
Q6ZRI0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
68132 [Q6ZRI0-1]
68133 [Q6ZRI0-2]

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q6ZRI0

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ZRI0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6ZRI0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000188162 Expressed in 23 organ(s), highest expression level in pituitary gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6ZRI0 baseline and differential

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
131110, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000382323

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6ZRI0

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini102 – 139EGF-likePROSITE-ProRule annotationAdd BLAST38
Domaini151 – 353VWFD 1PROSITE-ProRule annotationAdd BLAST203
Domaini513 – 727VWFD 2PROSITE-ProRule annotationAdd BLAST215
Domaini768 – 832TILAdd BLAST65
Domaini985 – 1187VWFD 3PROSITE-ProRule annotationAdd BLAST203
Domaini2111 – 2323VWFD 4PROSITE-ProRule annotationAdd BLAST213
Domaini2840 – 2925CTCKPROSITE-ProRule annotationAdd BLAST86

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1482 – 1880Pro-richAdd BLAST399
Compositional biasi2499 – 2647Cys-richAdd BLAST149

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the otogelin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IR87 Eukaryota
ENOG410Y3IZ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157490

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6ZRI0

Identification of Orthologs from Complete Genome Data

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OMAi
QHQCQAP

Database of Orthologous Groups

More...
OrthoDBi
12226at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6ZRI0

TreeFam database of animal gene trees

More...
TreeFami
TF300299

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007934 AbfB_ABD
IPR036195 AbfB_ABD_sf
IPR006207 Cys_knot_C
IPR000742 EGF-like_dom
IPR030105 Otogelin
IPR036084 Ser_inhib-like_sf
IPR002919 TIL_dom
IPR014853 Unchr_dom_Cys-rich
IPR001007 VWF_dom
IPR001846 VWF_type-D

The PANTHER Classification System

More...
PANTHERi
PTHR11339:SF228 PTHR11339:SF228, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05270 AbfB, 1 hit
PF08742 C8, 4 hits
PF01826 TIL, 1 hit
PF00094 VWD, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00832 C8, 4 hits
SM00041 CT, 1 hit
SM00215 VWC_out, 2 hits
SM00216 VWD, 4 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF110221 SSF110221, 1 hit
SSF57567 SSF57567, 4 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01225 CTCK_2, 1 hit
PS50026 EGF_3, 1 hit
PS51233 VWFD, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6ZRI0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        10         20         30         40         50
MGVLASALCW LLCVWLPWGE QAAESLRVQR LGERVVDSGR SGARGMRNVK
60 70 80 90 100
GMRNGPAQTR VSSSSSHQEA TLAMGDKATV VGGQQAEAPD SVAMSSWERR
110 120 130 140 150
LHRAKCAPSY LFSCFNGGEC VHPAFCDCRR FNATGPRCQM VYNAGPERDS
160 170 180 190 200
ICRAWGQHHV ETFDGLYYYL SGKGSYTLVG RHEPEGQSFS IQVHNDPQCG
210 220 230 240 250
SSPYTCSRAV SLFFVGEQEI HLAKEVTHGG MRVQLPHVMG SARLQQLAGY
260 270 280 290 300
VIVRHQSAFT LAWDGASAVY IKMSPELLGW THGLCGNNNA DPKDDLVTSS
310 320 330 340 350
GKLTDDVVEF VHSWQEQAPN QPPGPTTSSL PRPPCLQQNP GTMQGVYEQC
360 370 380 390 400
EALLRPPFDA CHAYVSPLPF TASCTSDLCQ SMGDVATWCR ALAEYARACA
410 420 430 440 450
QAGRPLQGWR TQLRQCTVHC KEKAFTYNEC IACCPASCHP RASCVDSEIA
460 470 480 490 500
CVDGCYCPNG LIFEDGGCVA PAECPCEFHG TLYPPGSVVK EDCNTCTCTS
510 520 530 540 550
GKWECSTAVC PAECSVTGDI HFTTFDGRRY TFPATCQYIL AKSRSSGTFT
560 570 580 590 600
VTLQNAPCGL NQDGACVQSV SVILHQDPRR QVTLTQAGDV LLFDQYKIIP
610 620 630 640 650
PYTDDAFEIR RLSSVFLRVR TNVGVRVLYD REGLRLYLQV DQRWVEDTVG
660 670 680 690 700
LCGTFNGNTQ DDFLSPVGVP ESTPQLFGNS WKTLSACSPL VSGSPLDPCD
710 720 730 740 750
VHLQAASYSV QACSVLTGEM FAPCSAFLSP VPYFEQCRRD ACRCGQPCLC
760 770 780 790 800
ATLAHYAHLC RRHGLPVDFR ARLPACALSC EASKEYSPCV APCGRTCQDL
810 820 830 840 850
ASPEACGVDG GDDLSRDECV EGCACPPDTY LDTQADLCVP RNQCSCHFQG
860 870 880 890 900
VDYPPGDSDI PSLGHCHCKD GVMSCDSRAP AAACPAGQVF VNCSDLHTDL
910 920 930 940 950
ELSRERTCEQ QLLNLSVSAR GPCLSGCACP QGLLRHGDAC FLPEECPCTW
960 970 980 990 1000
KGKEYFPGDQ VMSPCHTCVC QRGSFQCTLH PCASTCTAYG DRHYRTFDGL
1010 1020 1030 1040 1050
PFDFVGACKV HLVKSTSDVS FSVIVENVNC YSSGMICRKF ISINVGNSLI
1060 1070 1080 1090 1100
VFDDDSGNPS PESFLDDKQE VHTWRVGFFT LVHFPQEHIT LLWDQRTTVH
1110 1120 1130 1140 1150
VQAGPQWQGQ LAGLCGNFDL KTINEMRTPE NLELTNPQEF GSSWAAVECP
1160 1170 1180 1190 1200
DTLDPRDMCV LNPLREPFAK KECSILLSEV FEICHPVVDV TWFYSNCLTD
1210 1220 1230 1240 1250
TCGCSQGGDC ECFCASVSAY AHQCCQHGVA VDWRTPRLCP YDCDFFNKVL
1260 1270 1280 1290 1300
GKGPYQLSSL AAGGALVGMK AVGDDIVLVR TEDVAPADIV SFLLTAALYK
1310 1320 1330 1340 1350
AKAHDPDVVS LEAADRPNFF LHVTANGSLE LAKWQGRDTF QQHASFLLHR
1360 1370 1380 1390 1400
GTRQAGLVAL ESLAKPSSFL YVSGAVLALR LYEHTEVFRR GTLFRLLDAK
1410 1420 1430 1440 1450
PSGAAYPICE WRYDACASPC FQTCRDPRAA SCRDVPRVEG CVPVCPTPQV
1460 1470 1480 1490 1500
LDEVTQRCVY LEDCVEPAVW VPTEALGNET LPPSQGLPTP SDEEPQLSQE
1510 1520 1530 1540 1550
SPRTPTHRPA LTPAAPLTTA LNPPVTATEE PVVSPGPTQT TLQQPLELTA
1560 1570 1580 1590 1600
SQLPAGPTES PASKGVTASL LAIPHTPESS SLPVALQTPT PGMVSGAMET
1610 1620 1630 1640 1650
TRVTVIFAGS PNITVSSRSP PAPRFPLMTK AVTVRGHGSL PVRTTPPQPS
1660 1670 1680 1690 1700
LTASPSSRPV ASPGAISRSP TSSGSHKAVL TPAVTKVISR TGVPQPTQAQ
1710 1720 1730 1740 1750
SASSPSTPLT VAGTAAEQVP VSPLATRSLE IVLSTEKGEA GHSQPMGSPA
1760 1770 1780 1790 1800
SPQPHPLPSA PPRPAQHTTM ATRSPALPPE TPAAASLSTA TDGLAATPFM
1810 1820 1830 1840 1850
SLESTRPSQL LSGLPPDTSL PLAKVGTSAP VATPGPKASV ITTPLQPQAT
1860 1870 1880 1890 1900
TLPAQTLSPV LPFTPAAMTQ AHPPTHIAPP AAGTAPGLLL GATLPTSGVL
1910 1920 1930 1940 1950
PVAEGTASMV SVVPRKSTTG KVAILSKQVS LPTSMYGSAE GGPTELTPAT
1960 1970 1980 1990 2000
SHPLTPLVAE PEGAQAGTAL PVPTSYALSR VSARTAPQDS MLVLLPQLAE
2010 2020 2030 2040 2050
AHGTSAGPHL AAEPVDEATT EPSGRSAPAL SIVEGLAEAL ATTTEANTST
2060 2070 2080 2090 2100
TCVPIAEQDC VRHICLEGQL IRVNQSQHCP QGAAPPRCGI LGLAVRVGGD
2110 2120 2130 2140 2150
RCCPLWECAC RCSIFPDLSF VTFDGSHVAL FKEAIYILSQ SPDEMLTVHV
2160 2170 2180 2190 2200
LDCKSANLGH LNWPPFCLVM LNMTHLAHQV TIDRFNRKVT VDLQPVWPPV
2210 2220 2230 2240 2250
SRYGFRIEDT GHMYMILTPS DIQIQWLHSS GLMIVEASKT SKAQGHGLCG
2260 2270 2280 2290 2300
ICDGDAANDL TLKDGSVVGG AEDPAPFLDS WQVPSSLTSV GQTRFRPDSC
2310 2320 2330 2340 2350
ATTDCSPCLR MVSNRTFSAC HRFVPPESFC ELWIRDTKYV QQPCVALTVY
2360 2370 2380 2390 2400
VAMCHKFHVC IEWRRSDYCP FLCSSDSTYQ ACVTACEPPK TCQDGILGPL
2410 2420 2430 2440 2450
DPEHCQVLGE GCVCSEGTIL HRRHSALCIP EAKCACTDSM GVPRALGETW
2460 2470 2480 2490 2500
NSSLSGCCQH QCQAPDTIVP VDLGCPSPRP ESCLRFGEVA LLLPTKDPCC
2510 2520 2530 2540 2550
LGTVCVCNQT LCEGLAPTCR PGHRLLTHFQ EDSCCPSYSC ECDPDLCEAE
2560 2570 2580 2590 2600
LVPSCRQDQI LITGRLGDSC CTSYFCACGD CPDSIPECQE GEALTVHRNT
2610 2620 2630 2640 2650
TELCCPLYQC VCENFRCPQV QCGLGTALVE VWSPDRCCPY KSCECDCDTI
2660 2670 2680 2690 2700
PVPRCHLWEK SQLDEEFMHS VENVCGCAKY ECVKAPVCLS RELGVMQPGQ
2710 2720 2730 2740 2750
TVVELSADGV CHTSRCTTVL DPLTNFYQIN TTSVLCDIHC EANQEYEHPR
2760 2770 2780 2790 2800
DLAACCGSCR NVSCLFTFPN GTTSLFLPGA SWIADCARHH CSSTPLGAVL
2810 2820 2830 2840 2850
VRSPISCPPL NETECAKVGG SVVPSLEGCC RTCKEDGRSC KKVTIRMTIR
2860 2870 2880 2890 2900
KNECRSSTPV NLVSCDGRCP SASIYNYNIN TYARFCKCCR EVGLQRRSVQ
2910 2920
LFCATNATWV PYTVQEPTDC ACQWS
Note: No experimental confirmation available.
Length:2,925
Mass (Da):314,794
Last modified:November 25, 2008 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD3555CAA3D9AE5FA
GO
Isoform 2 (identifier: Q6ZRI0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-985: Missing.
     986-1014: CTAYGDRHYRTFDGLPFDFVGACKVHLVK → MFPARGVPLHLEGEGVFPWGPGDVSLPYL
     1240-1249: PYDCDFFNKV → L
     2434-2575: Missing.
     2644-2644: E → G
     2645-2925: Missing.

Note: No experimental confirmation available.
Show »
Length:1,508
Mass (Da):160,321
Checksum:iCEFB9E9A41CE0FF2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H9KVB3H9KVB3_HUMAN
Otogelin
OTOG
2,913Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9IZ84C9IZ84_HUMAN
Otogelin
OTOG
94Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1375A → P in BAC87330 (PubMed:14702039).Curated1
Sequence conflicti2121V → A in BAC87330 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037406375T → S. Corresponds to variant dbSNP:rs7130190EnsemblClinVar.1
Natural variantiVAR_061161391A → D. Corresponds to variant dbSNP:rs61611064Ensembl.1
Natural variantiVAR_037407659T → M. Corresponds to variant dbSNP:rs7112749EnsemblClinVar.1
Natural variantiVAR_037408692S → P. Corresponds to variant dbSNP:rs7106548EnsemblClinVar.1
Natural variantiVAR_037409919A → T. Corresponds to variant dbSNP:rs2355466EnsemblClinVar.1
Natural variantiVAR_0374101075R → Q. Corresponds to variant dbSNP:rs11024333EnsemblClinVar.1
Natural variantiVAR_0374111112A → V. Corresponds to variant dbSNP:rs7936324EnsemblClinVar.1
Natural variantiVAR_0374121129P → L. Corresponds to variant dbSNP:rs7936354EnsemblClinVar.1
Natural variantiVAR_0374131399A → G. Corresponds to variant dbSNP:rs4491195Ensembl.1
Natural variantiVAR_0374141646P → L. Corresponds to variant dbSNP:rs2041028Ensembl.1
Natural variantiVAR_0374151832A → V. Corresponds to variant dbSNP:rs1003490EnsemblClinVar.1
Natural variantiVAR_0374161947T → M. Corresponds to variant dbSNP:rs7111528EnsemblClinVar.1
Natural variantiVAR_0472622006A → V. Corresponds to variant dbSNP:rs11024341Ensembl.1
Natural variantiVAR_0692502116P → L in DFNB18B. 1 PublicationCorresponds to variant dbSNP:rs397514607EnsemblClinVar.1
Natural variantiVAR_0374172750R → Q. Corresponds to variant dbSNP:rs12422210EnsemblClinVar.1
Natural variantiVAR_0374182909W → S. Corresponds to variant dbSNP:rs11024357EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0297091 – 985Missing in isoform 2. 1 PublicationAdd BLAST985
Alternative sequenceiVSP_029710986 – 1014CTAYG…VHLVK → MFPARGVPLHLEGEGVFPWG PGDVSLPYL in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_0297111240 – 1249PYDCDFFNKV → L in isoform 2. 1 Publication10
Alternative sequenceiVSP_0297122434 – 2575Missing in isoform 2. 1 PublicationAdd BLAST142
Alternative sequenceiVSP_0297132644E → G in isoform 2. 1 Publication1
Alternative sequenceiVSP_0297142645 – 2925Missing in isoform 2. 1 PublicationAdd BLAST281

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK128214 mRNA Translation: BAC87330.1
AC124799 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS76390.1 [Q6ZRI0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001264198.1, NM_001277269.1 [Q6ZRI0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000399391; ENSP00000382323; ENSG00000188162 [Q6ZRI0-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
340990

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:340990

UCSC genome browser

More...
UCSCi
uc001mnh.1 human [Q6ZRI0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK128214 mRNA Translation: BAC87330.1
AC124799 Genomic DNA No translation available.
CCDSiCCDS76390.1 [Q6ZRI0-1]
RefSeqiNP_001264198.1, NM_001277269.1 [Q6ZRI0-1]

3D structure databases

SMRiQ6ZRI0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi131110, 1 interactor
STRINGi9606.ENSP00000382323

PTM databases

CarbonylDBiQ6ZRI0
iPTMnetiQ6ZRI0
PhosphoSitePlusiQ6ZRI0

Polymorphism and mutation databases

BioMutaiOTOG
DMDMi215274227

Proteomic databases

jPOSTiQ6ZRI0
PaxDbiQ6ZRI0
PeptideAtlasiQ6ZRI0
PRIDEiQ6ZRI0
ProteomicsDBi68132 [Q6ZRI0-1]
68133 [Q6ZRI0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000399391; ENSP00000382323; ENSG00000188162 [Q6ZRI0-1]
GeneIDi340990
KEGGihsa:340990
UCSCiuc001mnh.1 human [Q6ZRI0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
340990
DisGeNETi340990

GeneCards: human genes, protein and diseases

More...
GeneCardsi
OTOG
HGNCiHGNC:8516 OTOG
MalaCardsiOTOG
MIMi604487 gene
614945 phenotype
neXtProtiNX_Q6ZRI0
OpenTargetsiENSG00000188162
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR87 Eukaryota
ENOG410Y3IZ LUCA
GeneTreeiENSGT00940000157490
InParanoidiQ6ZRI0
OMAiQHQCQAP
OrthoDBi12226at2759
PhylomeDBiQ6ZRI0
TreeFamiTF300299

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
OTOG human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
340990

Protein Ontology

More...
PROi
PR:Q6ZRI0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000188162 Expressed in 23 organ(s), highest expression level in pituitary gland
ExpressionAtlasiQ6ZRI0 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR007934 AbfB_ABD
IPR036195 AbfB_ABD_sf
IPR006207 Cys_knot_C
IPR000742 EGF-like_dom
IPR030105 Otogelin
IPR036084 Ser_inhib-like_sf
IPR002919 TIL_dom
IPR014853 Unchr_dom_Cys-rich
IPR001007 VWF_dom
IPR001846 VWF_type-D
PANTHERiPTHR11339:SF228 PTHR11339:SF228, 1 hit
PfamiView protein in Pfam
PF05270 AbfB, 1 hit
PF08742 C8, 4 hits
PF01826 TIL, 1 hit
PF00094 VWD, 4 hits
SMARTiView protein in SMART
SM00832 C8, 4 hits
SM00041 CT, 1 hit
SM00215 VWC_out, 2 hits
SM00216 VWD, 4 hits
SUPFAMiSSF110221 SSF110221, 1 hit
SSF57567 SSF57567, 4 hits
PROSITEiView protein in PROSITE
PS01225 CTCK_2, 1 hit
PS50026 EGF_3, 1 hit
PS51233 VWFD, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOTOG_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6ZRI0
Secondary accession number(s): A8MTX6, A8MUJ0, B7WPC4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 25, 2008
Last modified: July 31, 2019
This is version 119 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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