BTBD9

Protein identityUniProt · HPA

UniProt accession

Q96Q07

Gene

BTBD9

Ensembl

ENSG00000183826

Chromosome

6

Canonical length

612 aa

Protein class

Disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

612 residues, UniProt reviewed canonical sequence.

>Q96Q07|BTBD9
     1  MSNSHPLRPF TAVGEIDHVH ILSEHIGALL IGEEYGDVTF VVEKKRFPAH RVILAARCQY
    61  FRALLYGGMR ESQPEAEIPL QDTTAEAFTM LLKYIYTGRA TLTDEKEEVL LDFLSLAHKY
   121  GFPELEDSTS EYLCTILNIQ NVCMTFDVAS LYSLPKLTCM CCMFMDRNAQ EVLSSEGFLS
   181  LSKTALLNIV LRDSFAAPEK DIFLALLNWC KHNSKENHAE IMQAVRLPLM SLTELLNVVR
   241  PSGLLSPDAI LDAIKVRSES RDMDLNYRGM LIPEENIATM KYGAQVVKGE LKSALLDGDT
   301  QNYDLDHGFS RHPIDDDCRS GIEIKLGQPS IINHIRILLW DRDSRSYSYF IEVSMDELDW
   361  VRVIDHSQYL CRSWQKLYFP ARVCRYIRIV GTHNTVNKIF HIVAFECMFT NKTFTLEKGL
   421  IVPMENVATI ADCASVIEGV SRSRNALLNG DTKNYDWDSG YTCHQLGSGA IVVQLAQPYM
   481  IGSIRLLLWD CDDRSYSYYV EVSTNQQQWT MVADRTKVSC KSWQSVTFER QPASFIRIVG
   541  THNTANEVFH CVHFECPEQQ SSQKEENSEE SGTGDTSLAG QQLDSHALRA PSGSSLPSSP
   601  GSNSRSPNRQ HQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BTBD9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

13 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BTBD9.

Disease | AllUniProt

Conditions BTBD9 is implicated in, by any mechanism.

• Restless legs syndrome 6 (RLS6) MIM:611185

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.87

gnomAD pLI

0

gnomAD missense Z

1.93

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult locomotory behavior
• circadian behavior
• long-term memory
• modulation of chemical synaptic transmission
• multicellular organismal-level iron ion homeostasis
• regulation of synaptic vesicle endocytosis
• sensory perception of temperature stimulus
• serotonin metabolic process
• circadian sleep/wake cycle, non-REM sleep

Cellular components

• cytoplasm
• glutamatergic synapse

Protein domainsUniProt · Pfam · InterPro

• BTB/POZ domain
• Coagulation factor 5/8, C-terminal domain
• Galactose-binding-like domain superfamily
• SKP1/BTB/POZ domain superfamily
• BTB/Kelch-associated
• BTB/POZ domain
• F5/8 type C domain
• BTB And C-terminal Kelch
• BTBD9, BACK-like domain
• BTB/POZ domain-containing protein 9