Entity Details

Primary name BTBD9_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96Q07
EntryNameBTBD9_HUMAN
FullNameBTB/POZ domain-containing protein 9
TaxID9606
Evidenceevidence at protein level
Length612
SequenceStatuscomplete
DateCreated2003-08-29
DateModified2021-06-02

Ontological Relatives

GenesBTBD9

GO terms

Show/Hide Table
GOName
GO:0007616 long-term memory
GO:0008344 adult locomotory behavior
GO:0042428 serotonin metabolic process
GO:0042748 circadian sleep/wake cycle, non-REM sleep
GO:0048512 circadian behavior
GO:0050804 modulation of chemical synaptic transmission
GO:0050951 sensory perception of temperature stimulus
GO:0060586 multicellular organismal iron ion homeostasis
GO:1900242 regulation of synaptic vesicle endocytosis

Subcellular Location

Show/Hide Table

Domains

Show/Hide Table
DomainNameCategoryType
IPR000210 BTB/POZ domainDomainDomain
IPR000421 Coagulation factor 5/8 C-terminal domainDomainDomain
IPR008979 Galactose-binding-like domain superfamilyFamilyHomologous superfamily
IPR011333 SKP1/BTB/POZ domain superfamilyFamilyHomologous superfamily
IPR011705 BTB/Kelch-associatedDomainDomain
IPR034091 BTBD9, BACK-like domainDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
611185 OMIMRestless legs syndrome 6 (RLS6)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. Disease susceptibility may be associated with variants affecting the gene represented in this entry.