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UniProtKB - Q96Q07 (BTBD9_HUMAN)

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Protein

BTB/POZ domain-containing protein 9

Gene

BTBD9

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

Functioni

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000183826.16
HGNCiHGNC:21228 BTBD9
MIMi611237 gene
neXtProtiNX_Q96Q07

Subcellular locationi

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
ProteomicsDBi77805
77806 [Q96Q07-2]

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

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi125343, 35 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

Phylogenomic databases

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

Family and domain databases

CDDicd14822 BACK_BTBD9_like, 1 hit
Gene3Di2.60.120.260, 2 hits
InterProiView 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
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF00754 F5_F8_type_C, 2 hits
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SUPFAMiSSF49785 SSF49785, 2 hits
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

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

Similar proteinsi

Entry informationi

Entry nameiBTBD9_HUMAN
AccessioniPrimary (citable) accession number: Q96Q07
Secondary accession number(s): Q494V9, Q494W1, Q96M00
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: August 29, 2003
Last modified: July 18, 2018
This is version 139 of the entry and version 2 of the sequence. See 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

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