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UniProtKB - Q3ZCN5 (OTOGL_HUMAN)

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Protein

Otogelin-like protein

Gene

OTOGL

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

Functioni

GO - Molecular functioni

Complete GO annotation...

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Otogelin-like protein
Gene namesi
Name:OTOGL
Synonyms:C12orf64
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:26901. OTOGL.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 84B (DFNB84B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by congenital, non-progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed.
See also OMIM:614944

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

DisGeNETi283310.
MalaCardsiOTOGL.
MIMi614944. phenotype.
OpenTargetsiENSG00000165899.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.

Polymorphism and mutation databases

DMDMi449081296.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000031676523 – 2332Otogelin-like proteinAdd BLAST2310

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi136 ↔ 144By similarity
Glycosylationi425N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi464N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi817N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi867N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1280N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1583N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2177N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2240 ↔ 2296By similarity
Disulfide bondi2261 ↔ 2310By similarity
Disulfide bondi2272 ↔ 2327By similarity
Disulfide bondi2276 ↔ 2329By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ3ZCN5.
PaxDbiQ3ZCN5.
PeptideAtlasiQ3ZCN5.
PRIDEiQ3ZCN5.
TopDownProteomicsiQ3ZCN5.

PTM databases

iPTMnetiQ3ZCN5.
PhosphoSitePlusiQ3ZCN5.

Expressioni

Tissue specificityi

Expressed at high levels in fetal inner ear and heart. Low levels in fetal skeletal muscle, kidney, spleen and colon. Not detected in fetal liver, lung, brain, nor in fetal stomach. In adult tissues, highest levels in brain, kidney, heart and retina. Relatively low levels in lung, spleen and duodenum. Not detected in adult skeletal muscle, liver, nor testis.1 Publication

Gene expression databases

BgeeiENSG00000165899.
CleanExiHS_C12orf64.
ExpressionAtlasiQ3ZCN5. baseline and differential.
GenevisibleiQ3ZCN5. HS.

Organism-specific databases

HPAiHPA040364.
HPA053392.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000400895.

Structurei

3D structure databases

SMRiQ3ZCN5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini113 – 326VWFD 1PROSITE-ProRule annotationAdd BLAST214
Domaini381 – 434TIL 1Add BLAST54
Domaini473 – 683VWFD 2PROSITE-ProRule annotationAdd BLAST211
Domaini736 – 791TIL 2Add BLAST56
Domaini938 – 1141VWFD 3PROSITE-ProRule annotationAdd BLAST204
Domaini1514 – 1734VWFD 4PROSITE-ProRule annotationAdd BLAST221
Domaini2240 – 2332CTCKPROSITE-ProRule annotationAdd BLAST93

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1908 – 2095Cys-richAdd BLAST188

Sequence similaritiesi

Belongs to the otogelin family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG1216. Eukaryota.
ENOG410XNSK. LUCA.
GeneTreeiENSGT00760000118896.
HOGENOMiHOG000115301.
HOVERGENiHBG107710.
InParanoidiQ3ZCN5.
TreeFamiTF330609.

Family and domain databases

InterProiView protein in InterPro
IPR007934. AbfB_ABD.
IPR006207. Cys_knot_C.
IPR030110. Otogl.
IPR002919. TIL_dom.
IPR014853. Unchr_dom_Cys-rich.
IPR001007. VWF_dom.
IPR001846. VWF_type-D.
PANTHERiPTHR11339:SF326. PTHR11339:SF326. 1 hit.
PfamiView protein in Pfam
PF05270. AbfB. 1 hit.
PF08742. C8. 4 hits.
PF01826. TIL. 3 hits.
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.
PS51233. VWFD. 4 hits.

Sequencei

Sequence statusi: Complete.

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

Q3ZCN5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MIPWSIFLLH VLLFSLQEYI CASSILMGTS KNGFNENRQK RALLAAQFEA 
        60         70         80         90        100
TSPRYFFHDA INWGESKIKG SCPYECLNGA FCSKTGTCDC QIFQALGTRC 
       110        120        130        140        150
QIIPNMGNGR DGICKTWGQY HFETFDGIYY YFPGNCSYIF AKDCGDLEPR 
       160        170        180        190        200
YTVWVHNSPK CLGSVYSCYR SISLFFSNQE EIRIYGHEIK KNGISLTLPQ 
       210        220        230        240        250
TIGQIFIEKL ADYILVKTTF GFSLAWDGIS GIYLKLSEDH KGKSCGLCGN 
       260        270        280        290        300
YNDIQSDDFI ILQEDYTEDI AMFANSWSVQ TPDDTKCVLT PSDFPNPCSS 
       310        320        330        340        350
GMPAFEAIFF KCQILLQFPF LSCHEYIDPY LYIASCVNDL CKTDDDETYC 
       360        370        380        390        400
RAATEYARAC SHAGYPIQDW RDDFPACTDK CDDSFVHRDC ISCCPPTCTF 
       410        420        430        440        450
EKQCLGSNLH CLDGCYCPDG LVMDNGTCIS LENCPCGFHG LAYSVGSKIE 
       460        470        480        490        500
QECTECVCVG GVWNCTEQDC PVQCSVVGDS HFTTFDGRHY SFIGMCQYIL 
       510        520        530        540        550
VKGTGKDKFT ITLQKAPCEQ NLGLVCLQSI TLILEDDFNK QVTLGRGGQI 
       560        570        580        590        600
LTSPNQGFNL NGIVEIQTLS SLFILLKTTF GLKILFAIDG ERIYIQLTSA 
       610        620        630        640        650
WKRRTLGLCG TFNGNIRDDF LSPSGMIEGT PQLHANAWRV SSTCFAPVHV 
       660        670        680        690        700
PVVDPCNINQ QNIGYAAHCD VIHQELFAPC HIYISPGLYY QLCRHDACKC 
       710        720        730        740        750
GSSCLCNALA HYAYLCGQHG VPIDFRTQIS FCAVVCQKGM LYHHCSSFCL 
       760        770        780        790        800
HSCISLSSPE QCSDDCAEGC NCPEGKFYED TLNFCVPIFH CRCHYRGSVY 
       810        820        830        840        850
QPGELIPTPS GLCQCSNGTV KCDELATPSA VHICPEGKEY FDCRFPDPEL 
       860        870        880        890        900
PAGGVNCETT CANLAMNFTC TPSSPCISGC VCAPGMAEHR GKCYVPESCP 
       910        920        930        940        950
CIWKDWEYLS GEVIATPCYT CVCRRGMFNC TYYPCPAVCT IYGDRHYYSF 
       960        970        980        990       1000
DGLEYDYISD CQVFLIKSAD DSDISVIAQN KKCFDNDIVC SKSVLISVGD 
      1010       1020       1030       1040       1050
TEIYLNDTPY KQKQSGFFLE NKSTYQLWKA GYYIVVYFPE KDITILWDRK 
      1060       1070       1080       1090       1100
TTIHIKVGPQ WKNKLSGLCG NFDKCTSNDM TTSNNLEVRN ARVFGDSWAL 
      1110       1120       1130       1140       1150
GQCESPDETI KPCEAHQNKF PYAKKECSIL YSDIFASCRN VIDVTSFAKN 
      1160       1170       1180       1190       1200
CHEDTCNCNL GGDCECLCTS IAAYAYKCCQ EGISIHWRSS TVCSLDCEYY 
      1210       1220       1230       1240       1250
NEGLGEGPYM LASYGQSGLV LGANMTSRSV FCLPRSSVHT SLFFYFMITP 
      1260       1270       1280       1290       1300
GLFKEKVSSL ALVSLESAER PNYFLYVHDN DTLSLELWEA NSAFHRRATF 
      1310       1320       1330       1340       1350
FHHQGLWIPG YSAFELYSKK GFFIIFTDSS VKASKYDDSE EFKHSSSFSI 
      1360       1370       1380       1390       1400
EEIQAAVPYR KMCEWRYEPC ATPCFKTCSD PEALACKFLP PVEGCLPYCP 
      1410       1420       1430       1440       1450
KNMILDEVTL KCVYPRDCIP VIPTEPTLMP PAKPTVPITV FDMLTPTTGL 
      1460       1470       1480       1490       1500
ECEPQKFDPV YDCSQYICLN MEWQLYNWSL NCPKDVEMPD CGFRGRPVQV 
      1510       1520       1530       1540       1550
NSDICCPEWE CPCRCSMLSE LSIITFDGNN AALYSMASYI LVRIPGEIIV 
      1560       1570       1580       1590       1600
AHIEKCSMNQ NGNSLKKLAP SGRISGLCFK KLNVTTPIHK IIVNRLARKV 
      1610       1620       1630       1640       1650
EVDSIVVPLP FSSQELSIED SGSMYVITTP AGLIIKWSHL TGIIDIHFGF 
      1660       1670       1680       1690       1700
RFNLSSYTEG LCGICNEDPD DDLRMQNGTI ITNMEDIGLF IESWEIEKSF 
      1710       1720       1730       1740       1750
EVTMRRPVRN CTEHDCSQCI DLLNRRIFIP CHDKVSPEDF CEKMWINYTY 
      1760       1770       1780       1790       1800
FWNYECDALS AYVALCNKFD ICIQWRTPDY CSLSCPEGKE YQPCVRPCEA 
      1810       1820       1830       1840       1850
RTCLNQWFYG HTSCLNLRED CVCKVGTILH RPHSAQCIPE KECACTDSED 
      1860       1870       1880       1890       1900
QPRTAGEIWN GGIDECTLYK CLENGSIIPI EPDCDEEPTP VCEREAEVVM 
      1910       1920       1930       1940       1950
GIIDKWTCCS KEVCGCDTTL CETSIPTCTN SQKLIVGHSP LSCCPQYKCE 
      1960       1970       1980       1990       2000
CDPLKCPSIS TPECREDQFM IQVRQEEPCC FSPFCVCESC TKPVPLCHDG 
      2010       2020       2030       2040       2050
EFLTVDLNST HFCCPQYYCV CEPNLCPMPL LNCAEDMNLV KENVSGQCCP 
      2060       2070       2080       2090       2100
TWHCECNCEN LIMPTCEVGE FTAIDHNFQS DCGCIQYLCE KDDVCVFQEV 
      2110       2120       2130       2140       2150
SVLNPGQSMI KYLEEDFCYA IECLEEKDNH TGFHTLNFTL VNCSKKCDVH 
      2160       2170       2180       2190       2200
QVYTPSPSDY GCCGTCKNVS CKFHMENGTS VVYAVGSTWH YNCTTYECVK 
      2210       2220       2230       2240       2250
TDEGAIILNY TMVCPPFNET ECKMNEGIVK LYNEGCCKIC KREERICQKV 
      2260       2270       2280       2290       2300
IIKSVIRKQD CMSQSPINVA SCDGKCPSAT IYNINIESHL RFCKCCRENG 
      2310       2320       2330 
VRNLSVPLYC SGNGTEIMYT LQEPIDCTCQ WN
Length:2,332
Mass (Da):262,091
Last modified:February 6, 2013 - v5
Checksum:iD43BCCDB7727CB80
GO

Sequence cautioni

The sequence BAC04877 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC11376 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2062I → V in BAC04877 (PubMed:14702039).Curated1
Sequence conflicti2062I → V in AAI01018 (PubMed:15489334).Curated1
Sequence conflicti2062I → V in AAI01019 (PubMed:15489334).Curated1
Sequence conflicti2120A → T in BAC04877 (PubMed:14702039).Curated1
Sequence conflicti2120A → T in BAC11376 (PubMed:14702039).Curated1
Sequence conflicti2120A → T in AAI01018 (PubMed:15489334).Curated1
Sequence conflicti2120A → T in AAI01019 (PubMed:15489334).Curated1
Sequence conflicti2225N → S in BAC11376 (PubMed:14702039).Curated1
Sequence conflicti2225N → S in AAI01018 (PubMed:15489334).Curated1
Sequence conflicti2225N → S in AAI01019 (PubMed:15489334).Curated1
Sequence conflicti2253K → E in BAC04877 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0690401378C → R1 PublicationCorresponds to variant dbSNP:rs768182016Ensembl.1
Natural variantiVAR_0383882276C → F in a breast cancer sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC078817 Genomic DNA. No translation available.
AC083812 Genomic DNA. No translation available.
AC092945 Genomic DNA. No translation available.
AK075060 mRNA. Translation: BAC11376.1. Different initiation.
AK096852 mRNA. Translation: BAC04877.1. Different initiation.
BC101017 mRNA. Translation: AAI01018.3.
BC101018 mRNA. Translation: AAI01019.2.
UniGeneiHs.723594.

Genome annotation databases

EnsembliENST00000547103; ENSP00000447211; ENSG00000165899.
UCSCiuc058rih.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC078817 Genomic DNA. No translation available.
AC083812 Genomic DNA. No translation available.
AC092945 Genomic DNA. No translation available.
AK075060 mRNA. Translation: BAC11376.1. Different initiation.
AK096852 mRNA. Translation: BAC04877.1. Different initiation.
BC101017 mRNA. Translation: AAI01018.3.
BC101018 mRNA. Translation: AAI01019.2.
UniGeneiHs.723594.

3D structure databases

SMRiQ3ZCN5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000400895.

PTM databases

iPTMnetiQ3ZCN5.
PhosphoSitePlusiQ3ZCN5.

Polymorphism and mutation databases

DMDMi449081296.

Proteomic databases

EPDiQ3ZCN5.
PaxDbiQ3ZCN5.
PeptideAtlasiQ3ZCN5.
PRIDEiQ3ZCN5.
TopDownProteomicsiQ3ZCN5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000547103; ENSP00000447211; ENSG00000165899.
UCSCiuc058rih.1. human.

Organism-specific databases

DisGeNETi283310.
GeneCardsiOTOGL.
H-InvDBiHIX0018423.
HGNCiHGNC:26901. OTOGL.
HPAiHPA040364.
HPA053392.
MalaCardsiOTOGL.
MIMi614925. gene.
614944. phenotype.
neXtProtiNX_Q3ZCN5.
OpenTargetsiENSG00000165899.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1216. Eukaryota.
ENOG410XNSK. LUCA.
GeneTreeiENSGT00760000118896.
HOGENOMiHOG000115301.
HOVERGENiHBG107710.
InParanoidiQ3ZCN5.
TreeFamiTF330609.

Miscellaneous databases

PROiPR:Q3ZCN5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165899.
CleanExiHS_C12orf64.
ExpressionAtlasiQ3ZCN5. baseline and differential.
GenevisibleiQ3ZCN5. HS.

Family and domain databases

InterProiView protein in InterPro
IPR007934. AbfB_ABD.
IPR006207. Cys_knot_C.
IPR030110. Otogl.
IPR002919. TIL_dom.
IPR014853. Unchr_dom_Cys-rich.
IPR001007. VWF_dom.
IPR001846. VWF_type-D.
PANTHERiPTHR11339:SF326. PTHR11339:SF326. 1 hit.
PfamiView protein in Pfam
PF05270. AbfB. 1 hit.
PF08742. C8. 4 hits.
PF01826. TIL. 3 hits.
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.
PS51233. VWFD. 4 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiOTOGL_HUMAN
AccessioniPrimary (citable) accession number: Q3ZCN5
Secondary accession number(s): F8W0C3
, Q495U8, Q8N8G5, Q8NC28
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 6, 2013
Last modified: June 7, 2017
This is version 92 of the entry and version 5 of the sequence. See 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 12
    Human chromosome 12: 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.