Version 5.4
| Homo sapiens Protein: BTBD9 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-377455.5 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | BTBD9 | ||||||||||||||||||
| Protein Name | BTB (POZ) domain containing 9 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000415365 | ||||||||||||||||||
| InnateDB Gene | IDBG-85817 (BTBD9) | ||||||||||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||||||||||
| Function | |||||||||||||||||||
| Subcellular Localization | |||||||||||||||||||
| Disease Associations | Restless legs syndrome 6 (RLS6) [MIM:611185]: A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. {ECO:0000269PubMed:17634447, ECO:0000269PubMed:18216367}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. | ||||||||||||||||||
| Tissue Specificity | Highly expressed in kidney and moderately expressed in all other adult and fetal tissues. Moderately expressed in all specific brain regions examined. {ECO:0000269PubMed:11572484}. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR000210
BTB/POZ-like IPR000421 Coagulation factor 5/8 C-terminal type domain IPR008979 Galactose-binding domain-like IPR011333 BTB/POZ fold IPR011705 BTB/Kelch-associated IPR013069 BTB/POZ |
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| PFAM |
PF00754
PF07707 PF00651 |
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| PRINTS | |||||||||||||||||||
| PIRSF | |||||||||||||||||||
| SMART |
SM00225
SM00231 SM00875 |
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| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q96Q07 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q96Q07 | ||||||||||||||||||
| TrEMBL | C9J8E4 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 114781 | ||||||||||||||||||
| UniGene | Hs.721273 | ||||||||||||||||||
| RefSeq | NP_001165889 | ||||||||||||||||||
| HUGO | HGNC:21228 | ||||||||||||||||||
| OMIM | 611237 | ||||||||||||||||||
| CCDS | CCDS54998 | ||||||||||||||||||
| HPRD | 12543 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AB067467 AK057507 AL031905 AL033518 AL079341 AL355345 AL451162 BC101354 BC101355 BC101357 CH471081 | ||||||||||||||||||
| GenPept | AAI01355 AAI01356 AAI01358 BAB67773 BAB71514 EAX03961 | ||||||||||||||||||