Q3ZCN5 (OTOGL_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 63.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Otogelin-like protein | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 2332 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Subcellular location | Secreted Potential. |
| Tissue specificity | 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. Ref.4 |
| Involvement in disease | Deafness, autosomal recessive, 84B (DFNB84B) [MIM:614944]: A form of non-syndromic deafness characterized by congenital, non-progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed. |
| Sequence similarities | Belongs to the otogelin family. Contains 1 CTCK (C-terminal cystine knot-like) domain. Contains 2 TIL (trypsin inhibitory-like) domains. Contains 4 VWFD domains. |
| Sequence caution | The sequence BAC04877.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC11376.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Secreted |
| Coding sequence diversity | Polymorphism |
| Disease | Deafness Non-syndromic deafness |
| Domain | Repeat Signal |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | L-arabinose metabolic process Inferred from electronic annotation. Source: InterPro |
| Cellular_component | extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | alpha-N-arabinofuranosidase activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 22 | 22 | Potential | ||||||||
| Chain | 23 – 2332 | 2310 | Otogelin-like protein | PRO_0000316765 | |||||||
Regions | |||||||||||
| Domain | 113 – 326 | 214 | VWFD 1 | ||||||||
| Domain | 381 – 434 | 54 | TIL 1 | ||||||||
| Domain | 473 – 683 | 211 | VWFD 2 | ||||||||
| Domain | 736 – 791 | 56 | TIL 2 | ||||||||
| Domain | 938 – 1141 | 204 | VWFD 3 | ||||||||
| Domain | 1514 – 1734 | 221 | VWFD 4 | ||||||||
| Domain | 2240 – 2332 | 93 | CTCK | ||||||||
| Compositional bias | 1908 – 2095 | 188 | Cys-rich | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 135 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 425 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 464 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 817 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 867 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1280 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1583 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2177 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 136 ↔ 144 | By similarity | |||||||||
| Disulfide bond | 2240 ↔ 2296 | By similarity | |||||||||
| Disulfide bond | 2261 ↔ 2310 | By similarity | |||||||||
| Disulfide bond | 2272 ↔ 2327 | By similarity | |||||||||
| Disulfide bond | 2276 ↔ 2329 | By similarity | |||||||||
Natural variations | |||||||||||
| Natural variant | 1378 | 1 | C → R. Ref.4 | VAR_069040 | |||||||
| Natural variant | 2276 | 1 | C → F in a breast cancer sample; somatic mutation. Ref.5 | VAR_038388 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 2062 | 1 | I → V in BAC04877. Ref.2 | ||||||||
| Sequence conflict | 2062 | 1 | I → V in AAI01018. Ref.3 | ||||||||
| Sequence conflict | 2062 | 1 | I → V in AAI01019. Ref.3 | ||||||||
| Sequence conflict | 2120 | 1 | A → T in BAC04877. Ref.2 | ||||||||
| Sequence conflict | 2120 | 1 | A → T in BAC11376. Ref.2 | ||||||||
| Sequence conflict | 2120 | 1 | A → T in AAI01018. Ref.3 | ||||||||
| Sequence conflict | 2120 | 1 | A → T in AAI01019. Ref.3 | ||||||||
| Sequence conflict | 2225 | 1 | N → S in BAC11376. Ref.2 | ||||||||
| Sequence conflict | 2225 | 1 | N → S in AAI01018. Ref.3 | ||||||||
| Sequence conflict | 2225 | 1 | N → S in AAI01019. Ref.3 | ||||||||
| Sequence conflict | 2253 | 1 | K → E in BAC04877. Ref.2 | ||||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI01021306. |
| UniGene | Hs.723594. |
3D structure databases | |
| ProteinModelPortal | Q3ZCN5. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000298820. |
PTM databases | |
| PhosphoSite | Q3ZCN5. |
Polymorphism databases | |
| DMDM | 218512154. |
Proteomic databases | |
| PaxDb | Q3ZCN5. |
| PRIDE | Q3ZCN5. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000547103; ENSP00000447211; ENSG00000165899. |
| UCSC | uc001szd.3. human. uc021rba.1. human. |
Organism-specific databases | |
| GeneCards | GC12P080603. |
| H-InvDB | HIX0018423. |
| HGNC | HGNC:26901. OTOGL. |
| HPA | HPA040364. |
| MIM | 614925. gene. 614944. phenotype. |
| neXtProt | NX_Q3ZCN5. |
| Orphanet | 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG325585. |
| HOGENOM | HOG000115301. |
| HOVERGEN | HBG107710. |
| InParanoid | Q3ZCN5. |
Gene expression databases | |
| ArrayExpress | Q3ZCN5. |
| Bgee | Q3ZCN5. |
| CleanEx | HS_C12orf64. |
| Genevestigator | Q3ZCN5. |
Family and domain databases | |
| InterPro | IPR007934. AbfB. IPR006207. Cys_knot_C. IPR002919. TIL_dom. IPR014853. Unchr_dom_Cys-rich. IPR001846. VWF_type-D. [Graphical view] |
| Pfam | PF05270. AbfB. 1 hit. PF08742. C8. 4 hits. PF01826. TIL. 2 hits. PF00094. VWD. 4 hits. [Graphical view] |
| SMART | SM00832. C8. 4 hits. SM00041. CT. 1 hit. SM00216. VWD. 4 hits. [Graphical view] |
| SUPFAM | SSF110221. AbfB. 1 hit. SSF57567. Cysrich_TIL. 5 hits. |
| PROSITE | PS01225. CTCK_2. 1 hit. PS51233. VWFD. 4 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 35512394. |
| SOURCE | Search... |
Entry information
| Entry name | OTOGL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q3ZCN5 Secondary accession number(s): F8W0C3 Q8NC28 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
