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Q96Q07

- BTBD9_HUMAN

UniProt

Q96Q07 - BTBD9_HUMAN

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
    • BLAST
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 2 (29 Aug 2003)
      Previous versions | rss
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    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

    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

    ArrayExpressiQ96Q07.
    BgeeiQ96Q07.
    CleanExiHS_BTBD9.
    GenevestigatoriQ96Q07.

    Organism-specific databases

    HPAiHPA041930.

    Interactioni

    Protein-protein interaction databases

    BioGridi125343. 7 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.
    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

    MSNSHPLRPF TAVGEIDHVH ILSEHIGALL IGEEYGDVTF VVEKKRFPAH    50
    RVILAARCQY FRALLYGGMR ESQPEAEIPL QDTTAEAFTM LLKYIYTGRA 100
    TLTDEKEEVL LDFLSLAHKY GFPELEDSTS EYLCTILNIQ NVCMTFDVAS 150
    LYSLPKLTCM CCMFMDRNAQ EVLSSEGFLS LSKTALLNIV LRDSFAAPEK 200
    DIFLALLNWC KHNSKENHAE IMQAVRLPLM SLTELLNVVR PSGLLSPDAI 250
    LDAIKVRSES RDMDLNYRGM LIPEENIATM KYGAQVVKGE LKSALLDGDT 300
    QNYDLDHGFS RHPIDDDCRS GIEIKLGQPS IINHIRILLW DRDSRSYSYF 350
    IEVSMDELDW VRVIDHSQYL CRSWQKLYFP ARVCRYIRIV GTHNTVNKIF 400
    HIVAFECMFT NKTFTLEKGL IVPMENVATI ADCASVIEGV SRSRNALLNG 450
    DTKNYDWDSG YTCHQLGSGA IVVQLAQPYM IGSIRLLLWD CDDRSYSYYV 500
    EVSTNQQQWT MVADRTKVSC KSWQSVTFER QPASFIRIVG THNTANEVFH 550
    CVHFECPEQQ SSQKEENSEE SGTGDTSLAG QQLDSHALRA PSGSSLPSSP 600
    GSNSRSPNRQ HQ 612
    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]
    ENST00000403056; ENSP00000386121; ENSG00000183826. [Q96Q07-1]
    ENST00000408958; ENSP00000386211; 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. 7 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 ]
    ENST00000403056 ; ENSP00000386121 ; ENSG00000183826 . [Q96Q07-1 ]
    ENST00000408958 ; ENSP00000386211 ; 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.
    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

    ArrayExpressi Q96Q07.
    Bgeei Q96Q07.
    CleanExi HS_BTBD9.
    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

    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 1, 2014
    This is version 109 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