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Q96Q07

- BTBD9_HUMAN

UniProt

Q96Q07 - BTBD9_HUMAN

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Protein

BTB/POZ domain-containing protein 9

Gene

BTBD9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Biological processi

  1. adult locomotory behavior Source: Ensembl
  2. cell adhesion Source: InterPro
  3. circadian sleep/wake cycle, non-REM sleep Source: Ensembl
  4. long-term memory Source: Ensembl
  5. multicellular organismal iron ion homeostasis Source: Ensembl
  6. regulation of synaptic vesicle endocytosis Source: Ensembl
  7. sensory perception of temperature stimulus Source: Ensembl
  8. serotonin metabolic process Source: Ensembl
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21228. BTBD9.

Pathology & Biotechi

Involvement in diseasei

Restless legs syndrome 6 (RLS6) [MIM:611185]: 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.2 Publications
Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Organism-specific databases

MIMi611185. phenotype.
PharmGKBiPA134891920.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 612612BTB/POZ domain-containing protein 9PRO_0000186217Add
BLAST

Proteomic databases

MaxQBiQ96Q07.
PaxDbiQ96Q07.
PRIDEiQ96Q07.

PTM databases

PhosphoSiteiQ96Q07.

Expressioni

Tissue specificityi

Highly expressed in kidney and moderately expressed in all other adult and fetal tissues. Moderately expressed in all specific brain regions examined.1 Publication

Gene expression databases

BgeeiQ96Q07.
CleanExiHS_BTBD9.
ExpressionAtlasiQ96Q07. baseline and differential.
GenevestigatoriQ96Q07.

Organism-specific databases

HPAiHPA041930.

Interactioni

Protein-protein interaction databases

BioGridi125343. 14 interactions.
IntActiQ96Q07. 3 interactions.
STRINGi9606.ENSP00000386121.

Structurei

3D structure databases

ProteinModelPortaliQ96Q07.
SMRiQ96Q07. Positions 22-250.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini36 – 10469BTBPROSITE-ProRule annotationAdd
BLAST
Domaini142 – 24099BACKAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG237096.
GeneTreeiENSGT00550000074511.
HOGENOMiHOG000007577.
HOVERGENiHBG050744.
InParanoidiQ96Q07.
KOiK10481.
OMAiCRYIRIV.
OrthoDBiEOG71P29D.
PhylomeDBiQ96Q07.
TreeFamiTF318638.

Family and domain databases

Gene3Di2.60.120.260. 2 hits.
3.30.710.10. 1 hit.
InterProiIPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR000421. Coagulation_fac_5/8-C_type_dom.
IPR008979. Galactose-bd-like.
[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. Align

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 BAB67773.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti331 – 3311I → V in BAB71514. (PubMed:14702039)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6868Missing in isoform 3. 1 PublicationVSP_044247Add
BLAST
Alternative sequencei1 – 6161MSNSH…RCQYF → MC in isoform 2. 1 PublicationVSP_042543Add
BLAST
Alternative sequencei383 – 3831V → VCSGDGVSLWCPLWSRTPEL KQSSLLGLPK in isoform 2. 1 PublicationVSP_042544

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005248898.1. XM_005248841.1. [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]
uc010jwv.3. human. [Q96Q07-2]

Polymorphism databases

DMDMi34395545.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005248898.1. XM_005248841.1. [Q96Q07-1 ]
UniGenei Hs.603858.

3D structure databases

ProteinModelPortali Q96Q07.
SMRi Q96Q07. Positions 22-250.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125343. 14 interactions.
IntActi Q96Q07. 3 interactions.
STRINGi 9606.ENSP00000386121.

PTM databases

PhosphoSitei Q96Q07.

Polymorphism databases

DMDMi 34395545.

Proteomic databases

MaxQBi Q96Q07.
PaxDbi Q96Q07.
PRIDEi Q96Q07.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000314100 ; ENSP00000323408 ; ENSG00000183826 . [Q96Q07-3 ]
ENST00000419706 ; ENSP00000415365 ; ENSG00000183826 . [Q96Q07-2 ]
ENST00000481247 ; ENSP00000418751 ; ENSG00000183826 . [Q96Q07-1 ]
GeneIDi 114781.
KEGGi hsa:114781.
UCSCi uc003ony.4. human. [Q96Q07-1 ]
uc010jwv.3. human. [Q96Q07-2 ]

Organism-specific databases

CTDi 114781.
GeneCardsi GC06M038136.
H-InvDB HIX0005845.
HGNCi HGNC:21228. BTBD9.
HPAi HPA041930.
MIMi 611185. phenotype.
611237. gene.
neXtProti NX_Q96Q07.
PharmGKBi PA134891920.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG237096.
GeneTreei ENSGT00550000074511.
HOGENOMi HOG000007577.
HOVERGENi HBG050744.
InParanoidi Q96Q07.
KOi K10481.
OMAi CRYIRIV.
OrthoDBi EOG71P29D.
PhylomeDBi Q96Q07.
TreeFami TF318638.

Miscellaneous databases

ChiTaRSi BTBD9. human.
GenomeRNAii 114781.
NextBioi 79155.
PROi Q96Q07.
SOURCEi Search...

Gene expression databases

Bgeei Q96Q07.
CleanExi HS_BTBD9.
ExpressionAtlasi Q96Q07. baseline and differential.
Genevestigatori Q96Q07.

Family and domain databases

Gene3Di 2.60.120.260. 2 hits.
3.30.710.10. 1 hit.
InterProi IPR011705. BACK.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR000421. Coagulation_fac_5/8-C_type_dom.
IPR008979. Galactose-bd-like.
[Graphical view ]
Pfami PF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF00754. F5_F8_type_C. 2 hits.
[Graphical view ]
SMARTi SM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
[Graphical view ]
SUPFAMi SSF49785. SSF49785. 2 hits.
SSF54695. SSF54695. 1 hit.
PROSITEi PS50097. BTB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins."
    Nagase T., Kikuno R., Ohara O.
    DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Brain.
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 69-612 (ISOFORM 1).
    Tissue: Testis.
  6. Cited for: POSSIBLE INVOLVEMENT IN RLS6.
  7. "A genetic risk factor for periodic limb movements in sleep."
    Vilarino-Guell C., Farrer M.J., Lin S.C.
    N. Engl. J. Med. 358:425-427(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE INVOLVEMENT IN RLS6.

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: October 29, 2014
This is version 110 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

External Data

Dasty 3