BTBD9_HUMAN
ID BTBD9_HUMAN Reviewed; 612 AA.
AC Q96Q07; Q494V9; Q494W1; Q96M00;
DT 29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 29-AUG-2003, sequence version 2.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=BTB/POZ domain-containing protein 9;
GN Name=BTBD9; Synonyms=KIAA1880;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=11572484; DOI=10.1093/dnares/8.4.179;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXI. The
RT complete sequences of 60 new cDNA clones from brain which code for large
RT proteins.";
RL DNA Res. 8:179-187(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 69-612 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP POSSIBLE INVOLVEMENT IN RLS6.
RX PubMed=17634447; DOI=10.1056/nejmoa072743;
RA Stefansson H., Rye D.B., Hicks A., Petursson H., Ingason A.,
RA Thorgeirsson T.E., Palsson S., Sigmundsson T., Sigurdsson A.P.,
RA Eiriksdottir I., Soebech E., Bliwise D., Beck J.M., Rosen A., Waddy S.,
RA Trotti L.M., Iranzo A., Thambisetty M., Hardarson G.A., Kristjansson K.,
RA Gudmundsson L.J., Thorsteinsdottir U., Kong A., Gulcher J.R.,
RA Gudbjartsson D., Stefansson K.;
RT "A genetic risk factor for periodic limb movements in sleep.";
RL N. Engl. J. Med. 357:639-647(2007).
RN [7]
RP POSSIBLE INVOLVEMENT IN RLS6.
RX PubMed=18216367; DOI=10.1056/nejmc072518;
RA Vilarino-Guell C., Farrer M.J., Lin S.C.;
RT "A genetic risk factor for periodic limb movements in sleep.";
RL N. Engl. J. Med. 358:425-427(2008).
RN [8]
RP TISSUE SPECIFICITY.
RX PubMed=22658601; DOI=10.1016/j.cub.2012.04.027;
RA Freeman A., Pranski E., Miller R.D., Radmard S., Bernhard D., Jinnah H.A.,
RA Betarbet R., Rye D.B., Sanyal S.;
RT "Sleep fragmentation and motor restlessness in a Drosophila model of
RT Restless Legs Syndrome.";
RL Curr. Biol. 22:1142-1148(2012).
CC -!- INTERACTION:
CC Q96Q07-2; P55212: CASP6; NbExp=3; IntAct=EBI-22006737, EBI-718729;
CC Q96Q07-2; P13473-2: LAMP2; NbExp=3; IntAct=EBI-22006737, EBI-21591415;
CC Q96Q07-2; P62826: RAN; NbExp=3; IntAct=EBI-22006737, EBI-286642;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96Q07-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96Q07-2; Sequence=VSP_042543, VSP_042544;
CC Name=3;
CC IsoId=Q96Q07-3; Sequence=VSP_044247;
CC -!- TISSUE SPECIFICITY: Detected in the brain (at protein level)
CC (PubMed:22658601). Moderately expressed in all specific brain regions
CC examined (PubMed:11572484). Expressed in the dopaminergic neurons of
CC the substantia nigra and A11 neurons (PubMed:22658601). Highly
CC expressed in kidney and moderately expressed in all other adult and
CC fetal tissues (PubMed:11572484). {ECO:0000269|PubMed:11572484,
CC ECO:0000269|PubMed:22658601}.
CC -!- DISEASE: Restless legs syndrome 6 (RLS6) [MIM:611185]: A neurologic
CC sleep/wake disorder characterized by uncomfortable and unpleasant
CC sensations in the legs that appear at rest, usually at night, inducing
CC an irresistible desire to move the legs. The disorder results in
CC nocturnal insomnia and chronic sleep deprivation. The majority of
CC patients also have periodic limb movements in sleep, which are
CC characterized by involuntary, highly stereotypical, regularly occurring
CC limb movements that occur during sleep. {ECO:0000269|PubMed:17634447,
CC ECO:0000269|PubMed:18216367}. Note=Disease susceptibility may be
CC associated with variants affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB67773.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB067467; BAB67773.1; ALT_INIT; mRNA.
DR EMBL; AL031905; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL033518; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL079341; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL355345; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL451162; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03961.1; -; Genomic_DNA.
DR EMBL; BC101354; AAI01355.1; -; mRNA.
DR EMBL; BC101355; AAI01356.1; -; mRNA.
DR EMBL; BC101357; AAI01358.1; -; mRNA.
DR EMBL; AK057507; BAB71514.1; -; mRNA.
DR CCDS; CCDS43458.1; -. [Q96Q07-3]
DR CCDS; CCDS47418.1; -. [Q96Q07-1]
DR CCDS; CCDS54998.1; -. [Q96Q07-2]
DR RefSeq; NP_001092742.1; NM_001099272.1. [Q96Q07-1]
DR RefSeq; NP_001165889.1; NM_001172418.1. [Q96Q07-2]
DR RefSeq; NP_443125.1; NM_052893.1. [Q96Q07-1]
DR RefSeq; NP_689946.2; NM_152733.2. [Q96Q07-3]
DR RefSeq; XP_011512581.1; XM_011514279.2. [Q96Q07-1]
DR AlphaFoldDB; Q96Q07; -.
DR SMR; Q96Q07; -.
DR BioGRID; 125343; 55.
DR IntAct; Q96Q07; 28.
DR STRING; 9606.ENSP00000418751; -.
DR iPTMnet; Q96Q07; -.
DR PhosphoSitePlus; Q96Q07; -.
DR BioMuta; BTBD9; -.
DR DMDM; 34395545; -.
DR EPD; Q96Q07; -.
DR jPOST; Q96Q07; -.
DR MassIVE; Q96Q07; -.
DR MaxQB; Q96Q07; -.
DR PaxDb; Q96Q07; -.
DR PeptideAtlas; Q96Q07; -.
DR PRIDE; Q96Q07; -.
DR ProteomicsDB; 61943; -.
DR ProteomicsDB; 77805; -. [Q96Q07-1]
DR ProteomicsDB; 77806; -. [Q96Q07-2]
DR Antibodypedia; 29854; 117 antibodies from 18 providers.
DR DNASU; 114781; -.
DR Ensembl; ENST00000314100.10; ENSP00000323408.6; ENSG00000183826.18. [Q96Q07-3]
DR Ensembl; ENST00000419706.6; ENSP00000415365.2; ENSG00000183826.18. [Q96Q07-2]
DR Ensembl; ENST00000481247.6; ENSP00000418751.1; ENSG00000183826.18. [Q96Q07-1]
DR Ensembl; ENST00000649492.1; ENSP00000497066.1; ENSG00000183826.18. [Q96Q07-1]
DR GeneID; 114781; -.
DR KEGG; hsa:114781; -.
DR MANE-Select; ENST00000481247.6; ENSP00000418751.1; NM_001099272.2; NP_001092742.1.
DR UCSC; uc003ony.4; human. [Q96Q07-1]
DR CTD; 114781; -.
DR DisGeNET; 114781; -.
DR GeneCards; BTBD9; -.
DR HGNC; HGNC:21228; BTBD9.
DR HPA; ENSG00000183826; Low tissue specificity.
DR MIM; 611185; phenotype.
DR MIM; 611237; gene.
DR neXtProt; NX_Q96Q07; -.
DR OpenTargets; ENSG00000183826; -.
DR PharmGKB; PA134891920; -.
DR VEuPathDB; HostDB:ENSG00000183826; -.
DR eggNOG; KOG4350; Eukaryota.
DR GeneTree; ENSGT00940000158298; -.
DR HOGENOM; CLU_004253_0_2_1; -.
DR InParanoid; Q96Q07; -.
DR OMA; YFCRSWQ; -.
DR OrthoDB; 607923at2759; -.
DR PhylomeDB; Q96Q07; -.
DR TreeFam; TF318638; -.
DR PathwayCommons; Q96Q07; -.
DR SignaLink; Q96Q07; -.
DR BioGRID-ORCS; 114781; 167 hits in 1112 CRISPR screens.
DR ChiTaRS; BTBD9; human.
DR GenomeRNAi; 114781; -.
DR Pharos; Q96Q07; Tbio.
DR PRO; PR:Q96Q07; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q96Q07; protein.
DR Bgee; ENSG00000183826; Expressed in endothelial cell and 152 other tissues.
DR ExpressionAtlas; Q96Q07; baseline and differential.
DR Genevisible; Q96Q07; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0008344; P:adult locomotory behavior; IBA:GO_Central.
DR GO; GO:0048512; P:circadian behavior; IBA:GO_Central.
DR GO; GO:0042748; P:circadian sleep/wake cycle, non-REM sleep; IEA:Ensembl.
DR GO; GO:0007616; P:long-term memory; IEA:Ensembl.
DR GO; GO:0050804; P:modulation of chemical synaptic transmission; IBA:GO_Central.
DR GO; GO:0060586; P:multicellular organismal iron ion homeostasis; IEA:Ensembl.
DR GO; GO:1900242; P:regulation of synaptic vesicle endocytosis; IEA:Ensembl.
DR GO; GO:0050951; P:sensory perception of temperature stimulus; IEA:Ensembl.
DR GO; GO:0042428; P:serotonin metabolic process; IEA:Ensembl.
DR CDD; cd14822; BACK_BTBD9; 1.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR011705; BACK.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR034091; BTBD9_BACK-like_dom.
DR InterPro; IPR000421; FA58C.
DR InterPro; IPR008979; Galactose-bd-like_sf.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF00754; F5_F8_type_C; 2.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF49785; SSF49785; 2.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..612
FT /note="BTB/POZ domain-containing protein 9"
FT /id="PRO_0000186217"
FT DOMAIN 36..104
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 142..240
FT /note="BACK"
FT REGION 560..612
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 572..612
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..68
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044247"
FT VAR_SEQ 1..61
FT /note="MSNSHPLRPFTAVGEIDHVHILSEHIGALLIGEEYGDVTFVVEKKRFPAHRV
FT ILAARCQYF -> MC (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_042543"
FT VAR_SEQ 383
FT /note="V -> VCSGDGVSLWCPLWSRTPELKQSSLLGLPK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_042544"
FT CONFLICT 331
FT /note="I -> V (in Ref. 5; BAB71514)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 612 AA; 69188 MW; 19A869F476064046 CRC64;
MSNSHPLRPF TAVGEIDHVH ILSEHIGALL IGEEYGDVTF VVEKKRFPAH RVILAARCQY
FRALLYGGMR ESQPEAEIPL QDTTAEAFTM LLKYIYTGRA TLTDEKEEVL LDFLSLAHKY
GFPELEDSTS EYLCTILNIQ NVCMTFDVAS LYSLPKLTCM CCMFMDRNAQ EVLSSEGFLS
LSKTALLNIV LRDSFAAPEK DIFLALLNWC KHNSKENHAE IMQAVRLPLM SLTELLNVVR
PSGLLSPDAI LDAIKVRSES RDMDLNYRGM LIPEENIATM KYGAQVVKGE LKSALLDGDT
QNYDLDHGFS RHPIDDDCRS GIEIKLGQPS IINHIRILLW DRDSRSYSYF IEVSMDELDW
VRVIDHSQYL CRSWQKLYFP ARVCRYIRIV GTHNTVNKIF HIVAFECMFT NKTFTLEKGL
IVPMENVATI ADCASVIEGV SRSRNALLNG DTKNYDWDSG YTCHQLGSGA IVVQLAQPYM
IGSIRLLLWD CDDRSYSYYV EVSTNQQQWT MVADRTKVSC KSWQSVTFER QPASFIRIVG
THNTANEVFH CVHFECPEQQ SSQKEENSEE SGTGDTSLAG QQLDSHALRA PSGSSLPSSP
GSNSRSPNRQ HQ
