UniProtKB - Q3ZCN5 (OTOGL_HUMAN)
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Protein
Otogelin-like protein
Gene
OTOGL
Organism
Homo sapiens (Human)
Status
Functioni
GO - Molecular functioni
- alpha-L-arabinofuranosidase activity Source: InterPro
GO - Biological processi
- L-arabinose metabolic process Source: InterPro
- sensory perception of sound Source: InterPro
Names & Taxonomyi
Protein namesi | Recommended name: Otogelin-like protein |
Gene namesi | Name:OTOGL Synonyms:C12orf64 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000165899.10. |
HGNCi | HGNC:26901. OTOGL. |
MIMi | 614925. gene. |
neXtProti | NX_Q3ZCN5. |
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:614944Keywords - Diseasei
Deafness, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 283310. |
MalaCardsi | OTOGL. |
MIMi | 614944. phenotype. |
OpenTargetsi | ENSG00000165899. |
Orphaneti | 90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB. |
Polymorphism and mutation databases
DMDMi | 449081296. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 22 | Sequence analysisAdd BLAST | 22 | |
ChainiPRO_0000316765 | 23 – 2332 | Otogelin-like proteinAdd BLAST | 2310 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 135 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 136 ↔ 144 | By similarity | ||
Glycosylationi | 425 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 464 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 817 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 867 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1280 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1583 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2177 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 2240 ↔ 2296 | By similarity | ||
Disulfide bondi | 2261 ↔ 2310 | By similarity | ||
Disulfide bondi | 2272 ↔ 2327 | By similarity | ||
Disulfide bondi | 2276 ↔ 2329 | By similarity |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
PaxDbi | Q3ZCN5. |
PeptideAtlasi | Q3ZCN5. |
PRIDEi | Q3ZCN5. |
TopDownProteomicsi | Q3ZCN5. |
PTM databases
iPTMneti | Q3ZCN5. |
PhosphoSitePlusi | Q3ZCN5. |
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
Bgeei | ENSG00000165899. |
CleanExi | HS_C12orf64. |
ExpressionAtlasi | Q3ZCN5. baseline and differential. |
Genevisiblei | Q3ZCN5. HS. |
Organism-specific databases
HPAi | HPA040364. HPA053392. |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 113 – 326 | VWFD 1PROSITE-ProRule annotationAdd BLAST | 214 | |
Domaini | 381 – 434 | TIL 1Add BLAST | 54 | |
Domaini | 473 – 683 | VWFD 2PROSITE-ProRule annotationAdd BLAST | 211 | |
Domaini | 736 – 791 | TIL 2Add BLAST | 56 | |
Domaini | 938 – 1141 | VWFD 3PROSITE-ProRule annotationAdd BLAST | 204 | |
Domaini | 1514 – 1734 | VWFD 4PROSITE-ProRule annotationAdd BLAST | 221 | |
Domaini | 2240 – 2332 | CTCKPROSITE-ProRule annotationAdd BLAST | 93 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1908 – 2095 | Cys-richAdd BLAST | 188 |
Sequence similaritiesi
Belongs to the otogelin family.Curated
Keywords - Domaini
Repeat, SignalPhylogenomic databases
eggNOGi | KOG1216. Eukaryota. ENOG410XNSK. LUCA. |
GeneTreei | ENSGT00760000118896. |
HOGENOMi | HOG000115301. |
HOVERGENi | HBG107710. |
InParanoidi | Q3ZCN5. |
TreeFami | TF330609. |
Family and domain databases
InterProi | View protein in InterPro IPR007934. AbfB_ABD. IPR036195. AbfB_ABD_sf. IPR006207. Cys_knot_C. IPR030110. Otogl. IPR036084. Ser_inhib-like_sf. IPR002919. TIL_dom. IPR014853. Unchr_dom_Cys-rich. IPR001007. VWF_dom. IPR001846. VWF_type-D. |
PANTHERi | PTHR11339:SF225. PTHR11339:SF225. 2 hits. |
Pfami | View protein in Pfam PF05270. AbfB. 1 hit. PF08742. C8. 4 hits. PF01826. TIL. 3 hits. PF00094. VWD. 4 hits. |
SMARTi | View protein in SMART SM00832. C8. 4 hits. SM00041. CT. 1 hit. SM00215. VWC_out. 2 hits. SM00216. VWD. 4 hits. |
SUPFAMi | SSF110221. SSF110221. 1 hit. SSF57567. SSF57567. 4 hits. |
PROSITEi | View protein in PROSITE PS01225. CTCK_2. 1 hit. PS51233. VWFD. 4 hits. |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q3ZCN5-1 [UniParc]FASTAAdd to basket
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
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 2062 | I → V in BAC04877 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 2062 | I → V in AAI01018 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2062 | I → V in AAI01019 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2120 | A → T in BAC04877 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 2120 | A → T in BAC11376 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 2120 | A → T in AAI01018 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2120 | A → T in AAI01019 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2225 | N → S in BAC11376 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 2225 | N → S in AAI01018 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2225 | N → S in AAI01019 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2253 | K → E in BAC04877 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069040 | 1378 | C → R1 PublicationCorresponds to variant dbSNP:rs768182016Ensembl. | 1 | |
Natural variantiVAR_038388 | 2276 | C → F in a breast cancer sample; somatic mutation. 1 Publication | 1 |
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. |
UniGenei | Hs.723594. |
Genome annotation databases
Ensembli | ENST00000547103; ENSP00000447211; ENSG00000165899. |
UCSCi | uc058rih.1. human. |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Entry informationi
Entry namei | OTOGL_HUMAN | |
Accessioni | Q3ZCN5Primary (citable) accession number: Q3ZCN5 Secondary accession number(s): F8W0C3 Q8NC28 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 5, 2008 |
Last sequence update: | February 6, 2013 | |
Last modified: | February 28, 2018 | |
This is version 96 of the entry and version 5 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |