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Protein

BTB/POZ domain-containing protein 9

Gene

BTBD9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-30867-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein 9
Gene namesi
Name:BTBD9
Synonyms:KIAA1880
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21228. BTBD9.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Restless legs syndrome 6 (RLS6)2 Publications
Disease susceptibility may be associated with variations 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.
See also OMIM:611185

Organism-specific databases

DisGeNETi114781.
MIMi611185. phenotype.
OpenTargetsiENSG00000183826.
PharmGKBiPA134891920.

Polymorphism and mutation databases

BioMutaiBTBD9.
DMDMi34395545.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001862171 – 612BTB/POZ domain-containing protein 9Add BLAST612

Proteomic databases

MaxQBiQ96Q07.
PaxDbiQ96Q07.
PeptideAtlasiQ96Q07.
PRIDEiQ96Q07.

PTM databases

iPTMnetiQ96Q07.
PhosphoSitePlusiQ96Q07.

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

BgeeiENSG00000183826.
CleanExiHS_BTBD9.
ExpressionAtlasiQ96Q07. baseline and differential.
GenevisibleiQ96Q07. HS.

Organism-specific databases

HPAiHPA041930.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125343. 26 interactors.
IntActiQ96Q07. 4 interactors.
STRINGi9606.ENSP00000386121.

Structurei

3D structure databases

ProteinModelPortaliQ96Q07.
SMRiQ96Q07.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini36 – 104BTBPROSITE-ProRule annotationAdd BLAST69
Domaini142 – 240BACKAdd BLAST99

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4350. Eukaryota.
ENOG410Z7D9. LUCA.
GeneTreeiENSGT00550000074511.
HOGENOMiHOG000007577.
HOVERGENiHBG050744.
InParanoidiQ96Q07.
KOiK10481.
OMAiIINHIRL.
OrthoDBiEOG091G055K.
PhylomeDBiQ96Q07.
TreeFamiTF318638.

Family and domain databases

Gene3Di2.60.120.260. 2 hits.
InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR000421. FA58C.
IPR008979. Galactose-bd-like.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF00754. F5_F8_type_C. 2 hits.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 2 hits.
SSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96Q07-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:612
Mass (Da):69,188
Last modified:August 29, 2003 - v2
Checksum:i19A869F476064046
GO
Isoform 2 (identifier: Q96Q07-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: MSNSHPLRPFTAVGEIDHVHILSEHIGALLIGEEYGDVTFVVEKKRFPAHRVILAARCQYF → MC
     383-383: V → VCSGDGVSLWCPLWSRTPELKQSSLLGLPK

Note: No experimental confirmation available.
Show »
Length:582
Mass (Da):65,664
Checksum:iBA186E37865D1C23
GO
Isoform 3 (identifier: Q96Q07-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.

Show »
Length:544
Mass (Da):61,558
Checksum:i8472FADC26FFA004
GO

Sequence cautioni

The sequence BAB67773 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti331I → V in BAB71514 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0442471 – 68Missing in isoform 3. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_0425431 – 61MSNSH…RCQYF → MC in isoform 2. 1 PublicationAdd BLAST61
Alternative sequenceiVSP_042544383V → VCSGDGVSLWCPLWSRTPEL KQSSLLGLPK in isoform 2. 1 Publication1

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.
CCDSiCCDS43458.1. [Q96Q07-3]
CCDS47418.1. [Q96Q07-1]
CCDS54998.1. [Q96Q07-2]
RefSeqiNP_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]
UniGeneiHs.603858.

Genome annotation databases

EnsembliENST00000314100; ENSP00000323408; ENSG00000183826. [Q96Q07-3]
ENST00000419706; ENSP00000415365; ENSG00000183826. [Q96Q07-2]
ENST00000481247; ENSP00000418751; ENSG00000183826. [Q96Q07-1]
GeneIDi114781.
KEGGihsa:114781.
UCSCiuc003ony.4. human. [Q96Q07-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS43458.1. [Q96Q07-3]
CCDS47418.1. [Q96Q07-1]
CCDS54998.1. [Q96Q07-2]
RefSeqiNP_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]
UniGeneiHs.603858.

3D structure databases

ProteinModelPortaliQ96Q07.
SMRiQ96Q07.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125343. 26 interactors.
IntActiQ96Q07. 4 interactors.
STRINGi9606.ENSP00000386121.

PTM databases

iPTMnetiQ96Q07.
PhosphoSitePlusiQ96Q07.

Polymorphism and mutation databases

BioMutaiBTBD9.
DMDMi34395545.

Proteomic databases

MaxQBiQ96Q07.
PaxDbiQ96Q07.
PeptideAtlasiQ96Q07.
PRIDEiQ96Q07.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314100; ENSP00000323408; ENSG00000183826. [Q96Q07-3]
ENST00000419706; ENSP00000415365; ENSG00000183826. [Q96Q07-2]
ENST00000481247; ENSP00000418751; ENSG00000183826. [Q96Q07-1]
GeneIDi114781.
KEGGihsa:114781.
UCSCiuc003ony.4. human. [Q96Q07-1]

Organism-specific databases

CTDi114781.
DisGeNETi114781.
GeneCardsiBTBD9.
H-InvDBHIX0005845.
HGNCiHGNC:21228. BTBD9.
HPAiHPA041930.
MIMi611185. phenotype.
611237. gene.
neXtProtiNX_Q96Q07.
OpenTargetsiENSG00000183826.
PharmGKBiPA134891920.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4350. Eukaryota.
ENOG410Z7D9. LUCA.
GeneTreeiENSGT00550000074511.
HOGENOMiHOG000007577.
HOVERGENiHBG050744.
InParanoidiQ96Q07.
KOiK10481.
OMAiIINHIRL.
OrthoDBiEOG091G055K.
PhylomeDBiQ96Q07.
TreeFamiTF318638.

Enzyme and pathway databases

BioCyciZFISH:G66-30867-MONOMER.

Miscellaneous databases

ChiTaRSiBTBD9. human.
GenomeRNAii114781.
PROiQ96Q07.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183826.
CleanExiHS_BTBD9.
ExpressionAtlasiQ96Q07. baseline and differential.
GenevisibleiQ96Q07. HS.

Family and domain databases

Gene3Di2.60.120.260. 2 hits.
InterProiIPR011705. BACK.
IPR000210. BTB/POZ_dom.
IPR000421. FA58C.
IPR008979. Galactose-bd-like.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF00754. F5_F8_type_C. 2 hits.
[Graphical view]
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 2 hits.
SSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBTBD9_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.