UniProtKB - Q96Q07 (BTBD9_HUMAN)
Protein
BTB/POZ domain-containing protein 9
Gene
BTBD9
Organism
Homo sapiens (Human)
Status
Functioni
GO - Biological processi
- adult locomotory behavior Source: GO_Central
- circadian behavior Source: GO_Central
- circadian sleep/wake cycle, non-REM sleep Source: Ensembl
- long-term memory Source: Ensembl
- modulation of chemical synaptic transmission Source: GO_Central
- multicellular organismal iron ion homeostasis Source: Ensembl
- regulation of synaptic vesicle endocytosis Source: Ensembl
- sensory perception of temperature stimulus Source: Ensembl
- serotonin metabolic process Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q96Q07 |
Names & Taxonomyi
Protein namesi | Recommended name: BTB/POZ domain-containing protein 9 |
Gene namesi | Name:BTBD9 Synonyms:KIAA1880 |
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
HGNCi | HGNC:21228, BTBD9 |
MIMi | 611237, gene |
neXtProti | NX_Q96Q07 |
VEuPathDBi | HostDB:ENSG00000183826.16 |
Pathology & Biotechi
Involvement in diseasei
Restless legs syndrome 6 (RLS6)2 Publications
Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMOrganism-specific databases
DisGeNETi | 114781 |
MIMi | 611185, phenotype |
OpenTargetsi | ENSG00000183826 |
PharmGKBi | PA134891920 |
Miscellaneous databases
Pharosi | Q96Q07, Tbio |
Genetic variation databases
BioMutai | BTBD9 |
DMDMi | 34395545 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000186217 | 1 – 612 | BTB/POZ domain-containing protein 9Add BLAST | 612 |
Proteomic databases
jPOSTi | Q96Q07 |
MassIVEi | Q96Q07 |
MaxQBi | Q96Q07 |
PaxDbi | Q96Q07 |
PeptideAtlasi | Q96Q07 |
PRIDEi | Q96Q07 |
ProteomicsDBi | 61943 77805 [Q96Q07-1] 77806 [Q96Q07-2] |
PTM databases
iPTMneti | Q96Q07 |
PhosphoSitePlusi | Q96Q07 |
Expressioni
Tissue specificityi
Detected in the brain (at protein level) (PubMed:22658601). Moderately expressed in all specific brain regions examined (PubMed:11572484). Expressed in the dopaminergic neurons of the substantia nigra and A11 neurons (PubMed:22658601). Highly expressed in kidney and moderately expressed in all other adult and fetal tissues (PubMed:11572484).2 Publications
Gene expression databases
Bgeei | ENSG00000183826, Expressed in corpus callosum and 175 other tissues |
ExpressionAtlasi | Q96Q07, baseline and differential |
Genevisiblei | Q96Q07, HS |
Organism-specific databases
HPAi | ENSG00000183826, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsIsoform 2 [Q96Q07-2]
With | #Exp. | IntAct |
---|---|---|
CASP6 [P55212] | 3 | EBI-22006737,EBI-718729 |
LAMP2 - isoform LAMP-2B [P13473-2] | 3 | EBI-22006737,EBI-21591415 |
RAN [P62826] | 3 | EBI-22006737,EBI-286642 |
Protein-protein interaction databases
BioGRIDi | 125343, 39 interactors |
IntActi | Q96Q07, 27 interactors |
STRINGi | 9606.ENSP00000418751 |
Miscellaneous databases
RNActi | Q96Q07, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 36 – 104 | BTBPROSITE-ProRule annotationAdd BLAST | 69 | |
Domaini | 142 – 240 | BACKAdd BLAST | 99 |
Phylogenomic databases
eggNOGi | KOG4350, Eukaryota |
GeneTreei | ENSGT00940000158298 |
HOGENOMi | CLU_004253_0_2_1 |
InParanoidi | Q96Q07 |
OMAi | LRSYSYY |
OrthoDBi | 607923at2759 |
PhylomeDBi | Q96Q07 |
TreeFami | TF318638 |
Family and domain databases
CDDi | cd14822, BACK_BTBD9, 1 hit |
Gene3Di | 2.60.120.260, 2 hits |
InterProi | View protein in InterPro IPR011705, BACK IPR000210, BTB/POZ_dom IPR034091, BTBD9_BACK-like_dom IPR000421, FA58C IPR008979, Galactose-bd-like_sf IPR011333, SKP1/BTB/POZ_sf |
Pfami | View protein in Pfam PF07707, BACK, 1 hit PF00651, BTB, 1 hit PF00754, F5_F8_type_C, 2 hits |
SMARTi | View protein in SMART SM00875, BACK, 1 hit SM00225, BTB, 1 hit |
SUPFAMi | SSF49785, SSF49785, 2 hits SSF54695, SSF54695, 1 hit |
PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q96Q07-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSNSHPLRPF TAVGEIDHVH ILSEHIGALL IGEEYGDVTF VVEKKRFPAH
60 70 80 90 100
RVILAARCQY FRALLYGGMR ESQPEAEIPL QDTTAEAFTM LLKYIYTGRA
110 120 130 140 150
TLTDEKEEVL LDFLSLAHKY GFPELEDSTS EYLCTILNIQ NVCMTFDVAS
160 170 180 190 200
LYSLPKLTCM CCMFMDRNAQ EVLSSEGFLS LSKTALLNIV LRDSFAAPEK
210 220 230 240 250
DIFLALLNWC KHNSKENHAE IMQAVRLPLM SLTELLNVVR PSGLLSPDAI
260 270 280 290 300
LDAIKVRSES RDMDLNYRGM LIPEENIATM KYGAQVVKGE LKSALLDGDT
310 320 330 340 350
QNYDLDHGFS RHPIDDDCRS GIEIKLGQPS IINHIRILLW DRDSRSYSYF
360 370 380 390 400
IEVSMDELDW VRVIDHSQYL CRSWQKLYFP ARVCRYIRIV GTHNTVNKIF
410 420 430 440 450
HIVAFECMFT NKTFTLEKGL IVPMENVATI ADCASVIEGV SRSRNALLNG
460 470 480 490 500
DTKNYDWDSG YTCHQLGSGA IVVQLAQPYM IGSIRLLLWD CDDRSYSYYV
510 520 530 540 550
EVSTNQQQWT MVADRTKVSC KSWQSVTFER QPASFIRIVG THNTANEVFH
560 570 580 590 600
CVHFECPEQQ SSQKEENSEE SGTGDTSLAG QQLDSHALRA PSGSSLPSSP
610
GSNSRSPNRQ HQ
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9J8E4 | C9J8E4_HUMAN | BTB/POZ domain-containing protein 9 | BTBD9 | 115 | Annotation score: | ||
H7C5Z6 | H7C5Z6_HUMAN | BTB/POZ domain-containing protein 9 | BTBD9 | 318 | Annotation score: | ||
A0A0A0MSF2 | A0A0A0MSF2_HUMAN | BTB/POZ domain-containing protein 9 | BTBD9 | 385 | Annotation score: | ||
A0A0A0MSF4 | A0A0A0MSF4_HUMAN | BTB/POZ domain-containing protein 9 | BTBD9 | 354 | Annotation score: | ||
C9JVC1 | C9JVC1_HUMAN | BTB/POZ domain-containing protein 9 | BTBD9 | 92 | Annotation score: |
Sequence cautioni
The sequence BAB67773 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 331 | I → V in BAB71514 (PubMed:14702039).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044247 | 1 – 68 | Missing in isoform 3. 1 PublicationAdd BLAST | 68 | |
Alternative sequenceiVSP_042543 | 1 – 61 | MSNSH…RCQYF → MC in isoform 2. 1 PublicationAdd BLAST | 61 | |
Alternative sequenceiVSP_042544 | 383 | V → VCSGDGVSLWCPLWSRTPEL KQSSLLGLPK in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB067467 mRNA Translation: BAB67773.1 Different initiation. AL031905 Genomic DNA No translation available. AL033518 Genomic DNA No translation available. AL079341 Genomic DNA No translation available. AL355345 Genomic DNA No translation available. AL451162 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03961.1 BC101354 mRNA Translation: AAI01355.1 BC101355 mRNA Translation: AAI01356.1 BC101357 mRNA Translation: AAI01358.1 AK057507 mRNA Translation: BAB71514.1 |
CCDSi | CCDS43458.1 [Q96Q07-3] CCDS47418.1 [Q96Q07-1] CCDS54998.1 [Q96Q07-2] |
RefSeqi | NP_001092742.1, NM_001099272.1 [Q96Q07-1] NP_001165889.1, NM_001172418.1 [Q96Q07-2] NP_443125.1, NM_052893.1 [Q96Q07-1] NP_689946.2, NM_152733.2 [Q96Q07-3] XP_011512581.1, XM_011514279.2 [Q96Q07-1] |
Genome annotation databases
Ensembli | ENST00000314100; ENSP00000323408; ENSG00000183826 [Q96Q07-3] ENST00000419706; ENSP00000415365; ENSG00000183826 [Q96Q07-2] ENST00000481247; ENSP00000418751; ENSG00000183826 [Q96Q07-1] ENST00000649492; ENSP00000497066; ENSG00000183826 [Q96Q07-1] |
GeneIDi | 114781 |
KEGGi | hsa:114781 |
UCSCi | uc003ony.4, human [Q96Q07-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB067467 mRNA Translation: BAB67773.1 Different initiation. AL031905 Genomic DNA No translation available. AL033518 Genomic DNA No translation available. AL079341 Genomic DNA No translation available. AL355345 Genomic DNA No translation available. AL451162 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03961.1 BC101354 mRNA Translation: AAI01355.1 BC101355 mRNA Translation: AAI01356.1 BC101357 mRNA Translation: AAI01358.1 AK057507 mRNA Translation: BAB71514.1 |
CCDSi | CCDS43458.1 [Q96Q07-3] CCDS47418.1 [Q96Q07-1] CCDS54998.1 [Q96Q07-2] |
RefSeqi | NP_001092742.1, NM_001099272.1 [Q96Q07-1] NP_001165889.1, NM_001172418.1 [Q96Q07-2] NP_443125.1, NM_052893.1 [Q96Q07-1] NP_689946.2, NM_152733.2 [Q96Q07-3] XP_011512581.1, XM_011514279.2 [Q96Q07-1] |
3D structure databases
SMRi | Q96Q07 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125343, 39 interactors |
IntActi | Q96Q07, 27 interactors |
STRINGi | 9606.ENSP00000418751 |
PTM databases
iPTMneti | Q96Q07 |
PhosphoSitePlusi | Q96Q07 |
Genetic variation databases
BioMutai | BTBD9 |
DMDMi | 34395545 |
Proteomic databases
jPOSTi | Q96Q07 |
MassIVEi | Q96Q07 |
MaxQBi | Q96Q07 |
PaxDbi | Q96Q07 |
PeptideAtlasi | Q96Q07 |
PRIDEi | Q96Q07 |
ProteomicsDBi | 61943 77805 [Q96Q07-1] 77806 [Q96Q07-2] |
Protocols and materials databases
Antibodypediai | 29854, 115 antibodies |
Genome annotation databases
Ensembli | ENST00000314100; ENSP00000323408; ENSG00000183826 [Q96Q07-3] ENST00000419706; ENSP00000415365; ENSG00000183826 [Q96Q07-2] ENST00000481247; ENSP00000418751; ENSG00000183826 [Q96Q07-1] ENST00000649492; ENSP00000497066; ENSG00000183826 [Q96Q07-1] |
GeneIDi | 114781 |
KEGGi | hsa:114781 |
UCSCi | uc003ony.4, human [Q96Q07-1] |
Organism-specific databases
CTDi | 114781 |
DisGeNETi | 114781 |
GeneCardsi | BTBD9 |
HGNCi | HGNC:21228, BTBD9 |
HPAi | ENSG00000183826, Low tissue specificity |
MIMi | 611185, phenotype 611237, gene |
neXtProti | NX_Q96Q07 |
OpenTargetsi | ENSG00000183826 |
PharmGKBi | PA134891920 |
VEuPathDBi | HostDB:ENSG00000183826.16 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4350, Eukaryota |
GeneTreei | ENSGT00940000158298 |
HOGENOMi | CLU_004253_0_2_1 |
InParanoidi | Q96Q07 |
OMAi | LRSYSYY |
OrthoDBi | 607923at2759 |
PhylomeDBi | Q96Q07 |
TreeFami | TF318638 |
Enzyme and pathway databases
PathwayCommonsi | Q96Q07 |
Miscellaneous databases
BioGRID-ORCSi | 114781, 157 hits in 876 CRISPR screens |
ChiTaRSi | BTBD9, human |
GenomeRNAii | 114781 |
Pharosi | Q96Q07, Tbio |
PROi | PR:Q96Q07 |
RNActi | Q96Q07, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000183826, Expressed in corpus callosum and 175 other tissues |
ExpressionAtlasi | Q96Q07, baseline and differential |
Genevisiblei | Q96Q07, HS |
Family and domain databases
CDDi | cd14822, BACK_BTBD9, 1 hit |
Gene3Di | 2.60.120.260, 2 hits |
InterProi | View protein in InterPro IPR011705, BACK IPR000210, BTB/POZ_dom IPR034091, BTBD9_BACK-like_dom IPR000421, FA58C IPR008979, Galactose-bd-like_sf IPR011333, SKP1/BTB/POZ_sf |
Pfami | View protein in Pfam PF07707, BACK, 1 hit PF00651, BTB, 1 hit PF00754, F5_F8_type_C, 2 hits |
SMARTi | View protein in SMART SM00875, BACK, 1 hit SM00225, BTB, 1 hit |
SUPFAMi | SSF49785, SSF49785, 2 hits SSF54695, SSF54695, 1 hit |
PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BTBD9_HUMAN | |
Accessioni | Q96Q07Primary (citable) accession number: Q96Q07 Secondary accession number(s): Q494V9, Q494W1, Q96M00 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 29, 2003 |
Last sequence update: | August 29, 2003 | |
Last modified: | February 10, 2021 | |
This is version 157 of the entry and version 2 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot