BHLH9_HUMAN
ID BHLH9_HUMAN Reviewed; 547 AA.
AC Q6PI77; Q9C0G2;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Protein BHLHb9;
DE Short=bHLHb9;
DE AltName: Full=Transcription regulator of 60 kDa;
DE Short=p60TRP;
GN Name=BHLHB9; Synonyms=KIAA1701;
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 [MRNA], POSSIBLE FUNCTION, SUBCELLULAR LOCATION, AND
RP TISSUE SPECIFICITY.
RX PubMed=15034937; DOI=10.1002/jcb.20010;
RA Heese K., Yamada T., Akatsu H., Yamamoto T., Kosaka K., Nagai Y.,
RA Sawada T.;
RT "Characterizing the new transcription regulator protein p60TRP.";
RL J. Cell. Biochem. 91:1030-1042(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:347-355(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [6]
RP INDUCTION.
RX PubMed=18089774; DOI=10.1158/0008-5472.can-07-2687;
RA Jacinto F.V., Ballestar E., Ropero S., Esteller M.;
RT "Discovery of epigenetically silenced genes by methylated DNA
RT immunoprecipitation in colon cancer cells.";
RL Cancer Res. 67:11481-11486(2007).
CC -!- FUNCTION: May play a role in the control of cellular aging and
CC survival.
CC -!- INTERACTION:
CC Q6PI77; X5D778: ANKRD11; NbExp=3; IntAct=EBI-11519926, EBI-17183751;
CC Q6PI77; P29972: AQP1; NbExp=3; IntAct=EBI-11519926, EBI-745213;
CC Q6PI77; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-11519926, EBI-745073;
CC Q6PI77; Q53TS8: C2CD6; NbExp=3; IntAct=EBI-11519926, EBI-739879;
CC Q6PI77; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-11519926, EBI-744556;
CC Q6PI77; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-11519926, EBI-396137;
CC Q6PI77; Q16543: CDC37; NbExp=3; IntAct=EBI-11519926, EBI-295634;
CC Q6PI77; Q96GN5: CDCA7L; NbExp=3; IntAct=EBI-11519926, EBI-5278764;
CC Q6PI77; Q8WUE5: CT55; NbExp=3; IntAct=EBI-11519926, EBI-6873363;
CC Q6PI77; P26196: DDX6; NbExp=3; IntAct=EBI-11519926, EBI-351257;
CC Q6PI77; Q96JC9: EAF1; NbExp=3; IntAct=EBI-11519926, EBI-769261;
CC Q6PI77; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-11519926, EBI-744099;
CC Q6PI77; Q9H5Z6-2: FAM124B; NbExp=3; IntAct=EBI-11519926, EBI-11986315;
CC Q6PI77; Q3B820: FAM161A; NbExp=3; IntAct=EBI-11519926, EBI-719941;
CC Q6PI77; Q7L5A3: FAM214B; NbExp=3; IntAct=EBI-11519926, EBI-745689;
CC Q6PI77; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-11519926, EBI-6658203;
CC Q6PI77; O95995: GAS8; NbExp=3; IntAct=EBI-11519926, EBI-1052570;
CC Q6PI77; P55040: GEM; NbExp=3; IntAct=EBI-11519926, EBI-744104;
CC Q6PI77; O95872: GPANK1; NbExp=3; IntAct=EBI-11519926, EBI-751540;
CC Q6PI77; A0A024R8L2: hCG_1987119; NbExp=3; IntAct=EBI-11519926, EBI-14103818;
CC Q6PI77; P49639: HOXA1; NbExp=3; IntAct=EBI-11519926, EBI-740785;
CC Q6PI77; Q9C086: INO80B; NbExp=3; IntAct=EBI-11519926, EBI-715611;
CC Q6PI77; Q8NA54: IQUB; NbExp=3; IntAct=EBI-11519926, EBI-10220600;
CC Q6PI77; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-11519926, EBI-6426443;
CC Q6PI77; Q969R5: L3MBTL2; NbExp=3; IntAct=EBI-11519926, EBI-739909;
CC Q6PI77; Q8WVC0: LEO1; NbExp=3; IntAct=EBI-11519926, EBI-932432;
CC Q6PI77; P25800: LMO1; NbExp=3; IntAct=EBI-11519926, EBI-8639312;
CC Q6PI77; Q17RB8: LONRF1; NbExp=3; IntAct=EBI-11519926, EBI-2341787;
CC Q6PI77; P55081: MFAP1; NbExp=3; IntAct=EBI-11519926, EBI-1048159;
CC Q6PI77; Q8IVT2: MISP; NbExp=3; IntAct=EBI-11519926, EBI-2555085;
CC Q6PI77; Q00013: MPP1; NbExp=3; IntAct=EBI-11519926, EBI-711788;
CC Q6PI77; P48552: NRIP1; NbExp=3; IntAct=EBI-11519926, EBI-746484;
CC Q6PI77; P32242: OTX1; NbExp=3; IntAct=EBI-11519926, EBI-740446;
CC Q6PI77; Q8N3R9: PALS1; NbExp=3; IntAct=EBI-11519926, EBI-2513978;
CC Q6PI77; O43189: PHF1; NbExp=5; IntAct=EBI-11519926, EBI-530034;
CC Q6PI77; Q96PV4: PNMA5; NbExp=3; IntAct=EBI-11519926, EBI-10171633;
CC Q6PI77; O15160: POLR1C; NbExp=3; IntAct=EBI-11519926, EBI-1055079;
CC Q6PI77; O43741: PRKAB2; NbExp=3; IntAct=EBI-11519926, EBI-1053424;
CC Q6PI77; Q8WWY3: PRPF31; NbExp=3; IntAct=EBI-11519926, EBI-1567797;
CC Q6PI77; Q9P2K3-2: RCOR3; NbExp=3; IntAct=EBI-11519926, EBI-1504830;
CC Q6PI77; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-11519926, EBI-748391;
CC Q6PI77; Q96B97: SH3KBP1; NbExp=5; IntAct=EBI-11519926, EBI-346595;
CC Q6PI77; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-11519926, EBI-358489;
CC Q6PI77; Q5MJ10: SPANXN2; NbExp=3; IntAct=EBI-11519926, EBI-12023934;
CC Q6PI77; Q6ZRS2-3: SRCAP; NbExp=3; IntAct=EBI-11519926, EBI-12029182;
CC Q6PI77; Q5VWN6: TASOR2; NbExp=3; IntAct=EBI-11519926, EBI-745958;
CC Q6PI77; Q15560: TCEA2; NbExp=3; IntAct=EBI-11519926, EBI-710310;
CC Q6PI77; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-11519926, EBI-11139477;
CC Q6PI77; Q96FV9: THOC1; NbExp=3; IntAct=EBI-11519926, EBI-1765605;
CC Q6PI77; Q9UKI8: TLK1; NbExp=3; IntAct=EBI-11519926, EBI-740492;
CC Q6PI77; O95985: TOP3B; NbExp=3; IntAct=EBI-11519926, EBI-373403;
CC Q6PI77; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-11519926, EBI-10241197;
CC Q6PI77; Q99757: TXN2; NbExp=3; IntAct=EBI-11519926, EBI-2932492;
CC Q6PI77; O75604: USP2; NbExp=3; IntAct=EBI-11519926, EBI-743272;
CC Q6PI77; A0A024R8A9: USP20; NbExp=3; IntAct=EBI-11519926, EBI-14096082;
CC Q6PI77; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-11519926, EBI-740727;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15034937}. Nucleus
CC {ECO:0000269|PubMed:15034937}. Note=Mainly cytoplasmic, and nuclear at
CC lower level.
CC -!- TISSUE SPECIFICITY: Highly expressed in brain. Not expressed in lung or
CC liver. Down-regulated in brain from patients suffering from Alzheimer
CC disease. {ECO:0000269|PubMed:15034937}.
CC -!- INDUCTION: Down-regulated in colon cancer cells, due to CpG
CC hypermethylation of its promoter. {ECO:0000269|PubMed:18089774}.
CC -!- SIMILARITY: Belongs to the GPRASP family. {ECO:0000305}.
CC -!- CAUTION: Despite its name, no basic helix-loop-helix (bHLH) domain is
CC detected by any prediction tool. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB21792.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF547055; AAQ12077.1; -; mRNA.
DR EMBL; AB051488; BAB21792.1; ALT_INIT; mRNA.
DR EMBL; AL035427; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471190; EAW54726.1; -; Genomic_DNA.
DR EMBL; BC041409; AAH41409.1; -; mRNA.
DR CCDS; CCDS14502.1; -.
DR RefSeq; NP_001135996.1; NM_001142524.1.
DR RefSeq; NP_001135997.1; NM_001142525.1.
DR RefSeq; NP_001135998.1; NM_001142526.1.
DR RefSeq; NP_001135999.1; NM_001142527.1.
DR RefSeq; NP_001136000.1; NM_001142528.1.
DR RefSeq; NP_001136001.1; NM_001142529.1.
DR RefSeq; NP_001136002.1; NM_001142530.1.
DR RefSeq; NP_085142.1; NM_030639.2.
DR AlphaFoldDB; Q6PI77; -.
DR BioGRID; 123320; 60.
DR IntAct; Q6PI77; 65.
DR MINT; Q6PI77; -.
DR STRING; 9606.ENSP00000361820; -.
DR iPTMnet; Q6PI77; -.
DR PhosphoSitePlus; Q6PI77; -.
DR BioMuta; BHLHB9; -.
DR DMDM; 74749201; -.
DR EPD; Q6PI77; -.
DR MassIVE; Q6PI77; -.
DR PaxDb; Q6PI77; -.
DR PeptideAtlas; Q6PI77; -.
DR PRIDE; Q6PI77; -.
DR ProteomicsDB; 67143; -.
DR Antibodypedia; 28945; 46 antibodies from 12 providers.
DR DNASU; 80823; -.
DR Ensembl; ENST00000361229.8; ENSP00000354675.4; ENSG00000198908.12.
DR Ensembl; ENST00000372735.1; ENSP00000361820.1; ENSG00000198908.12.
DR Ensembl; ENST00000447531.5; ENSP00000405893.1; ENSG00000198908.12.
DR Ensembl; ENST00000448867.1; ENSP00000391722.1; ENSG00000198908.12.
DR Ensembl; ENST00000457056.6; ENSP00000403226.1; ENSG00000198908.12.
DR GeneID; 80823; -.
DR KEGG; hsa:80823; -.
DR MANE-Select; ENST00000457056.6; ENSP00000403226.1; NM_001142524.2; NP_001135996.1.
DR UCSC; uc004ejo.4; human.
DR CTD; 80823; -.
DR DisGeNET; 80823; -.
DR GeneCards; BHLHB9; -.
DR HGNC; HGNC:29353; BHLHB9.
DR HPA; ENSG00000198908; Low tissue specificity.
DR MIM; 300921; gene.
DR neXtProt; NX_Q6PI77; -.
DR OpenTargets; ENSG00000198908; -.
DR PharmGKB; PA134895992; -.
DR VEuPathDB; HostDB:ENSG00000198908; -.
DR eggNOG; ENOG502RU0K; Eukaryota.
DR GeneTree; ENSGT00940000161990; -.
DR HOGENOM; CLU_036908_0_0_1; -.
DR InParanoid; Q6PI77; -.
DR OMA; PIPEYPF; -.
DR OrthoDB; 860703at2759; -.
DR PhylomeDB; Q6PI77; -.
DR TreeFam; TF335652; -.
DR PathwayCommons; Q6PI77; -.
DR SignaLink; Q6PI77; -.
DR BioGRID-ORCS; 80823; 18 hits in 707 CRISPR screens.
DR GenomeRNAi; 80823; -.
DR Pharos; Q6PI77; Tdark.
DR PRO; PR:Q6PI77; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q6PI77; protein.
DR Bgee; ENSG00000198908; Expressed in cortical plate and 109 other tissues.
DR Genevisible; Q6PI77; HS.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0042803; F:protein homodimerization activity; ISS:CAFA.
DR GO; GO:0007611; P:learning or memory; ISS:CAFA.
DR GO; GO:0043524; P:negative regulation of neuron apoptotic process; ISS:CAFA.
DR GO; GO:0061003; P:positive regulation of dendritic spine morphogenesis; ISS:CAFA.
DR GO; GO:0050769; P:positive regulation of neurogenesis; ISS:CAFA.
DR GO; GO:0051965; P:positive regulation of synapse assembly; ISS:CAFA.
DR Gene3D; 1.25.10.10; -; 1.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR006911; ARM-rpt_dom.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR043374; BHLHb9/GASP-1/GASP-2.
DR PANTHER; PTHR46414; PTHR46414; 1.
DR Pfam; PF04826; Arm_2; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Nucleus; Reference proteome.
FT CHAIN 1..547
FT /note="Protein BHLHb9"
FT /id="PRO_0000334662"
FT REGION 1..32
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 80..102
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 9..23
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 132
FT /note="S -> G (in dbSNP:rs2179675)"
FT /id="VAR_049266"
FT VARIANT 318
FT /note="C -> R (in dbSNP:rs4514179)"
FT /id="VAR_049267"
SQ SEQUENCE 547 AA; 60291 MW; EC0E8D95CC7CE09D CRC64;
MAGTKNKTRA QAKTEKKAAI QAKAGAEREA TGVVRPVAKT RAKAKAKTGS KTDAVAEMKA
VSKNKVVAET KEGALSEPKT LGKAMGDFTP KAGNESTSST CKNEAGTDAW FWAGEEATIN
SWFWNGEEAG NSFSTKNDKP EIGAQVCAEE LEPAAGADCK PRSGAEEEEE ENVIGNWFWE
GDDTSFDPNP KPVSRIVKPQ PVYEINEKNR PKDWSEVTIW PNAPAVTPAV LGFRSQAPSE
ASPPSYIVLA SAEENACSLP VATACRPSRN TRSCSQPIPE CRFDSDPCIQ TIDEIRRQIR
IREVNGIKPF ACPCKMECYM DSEEFEKLVS LLKSTTDPLI HKIARIAMGV HNVHPFAQEF
INEVGVVTLI ESLLSFPSPE MRKKTVITLN PPSGDERQRK IELHVKHMCK ETMSFPLNSP
GQQSGLKILG QLTTDFVHHY IVANYFSELF HLLSSGNCKT RNLVLKLLLN MSENPTAARD
MINMKALAAL KLIFNQKEAK ANLVSGVAIF INIKEHIRKG SIVVVDHLSY NTLMAIFREV
KEIIETM
