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Q6PI77

- BHLH9_HUMAN

UniProt

Q6PI77 - BHLH9_HUMAN

Protein

Protein BHLHb9

Gene

BHLHB9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    May play a role in the control of cellular aging and survival.

    GO - Molecular functioni

    1. protein homodimerization activity Source: UniProt

    GO - Biological processi

    1. learning or memory Source: UniProt
    2. negative regulation of neuron apoptotic process Source: UniProt
    3. positive regulation of dendritic spine morphogenesis Source: UniProt
    4. positive regulation of neurogenesis Source: UniProt
    5. positive regulation of synapse assembly Source: UniProt

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein BHLHb9
    Short name:
    bHLHb9
    Alternative name(s):
    Transcription regulator of 60 kDa
    Short name:
    p60TRP
    Gene namesi
    Name:BHLHB9
    Synonyms:KIAA1701
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:29353. BHLHB9.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 Publication
    Note: Mainly cytoplasmic, and nuclear at lower level.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. extracellular vesicular exosome Source: UniProt
    3. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134895992.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 547547Protein BHLHb9PRO_0000334662Add
    BLAST

    Proteomic databases

    PaxDbiQ6PI77.
    PRIDEiQ6PI77.

    PTM databases

    PhosphoSiteiQ6PI77.

    Expressioni

    Tissue specificityi

    Highly expressed in brain. Not expressed in lung or liver. Down-regulated in brain from patients suffering from Alzheimer disease.1 Publication

    Inductioni

    Down-regulated in colon cancer cells, due to CpG hypermethylation of its promoter.1 Publication

    Gene expression databases

    BgeeiQ6PI77.
    CleanExiHS_BHLHB9.
    GenevestigatoriQ6PI77.

    Organism-specific databases

    HPAiHPA020457.

    Interactioni

    Protein-protein interaction databases

    BioGridi123320. 4 interactions.
    STRINGi9606.ENSP00000354675.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6PI77.
    SMRiQ6PI77. Positions 326-381, 445-514.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi166 – 1716Poly-Glu

    Sequence similaritiesi

    Belongs to the GPRASP family.Curated

    Phylogenomic databases

    eggNOGiNOG39230.
    HOGENOMiHOG000095228.
    HOVERGENiHBG098352.
    InParanoidiQ6PI77.
    OMAiTTDPLIH.
    OrthoDBiEOG70PBZ0.
    PhylomeDBiQ6PI77.
    TreeFamiTF335652.

    Family and domain databases

    Gene3Di1.25.10.10. 1 hit.
    InterProiIPR011989. ARM-like.
    IPR006911. ARM-rpt_dom.
    IPR016024. ARM-type_fold.
    [Graphical view]
    PfamiPF04826. Arm_2. 1 hit.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q6PI77-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAGTKNKTRA QAKTEKKAAI QAKAGAEREA TGVVRPVAKT RAKAKAKTGS    50
    KTDAVAEMKA VSKNKVVAET KEGALSEPKT LGKAMGDFTP KAGNESTSST 100
    CKNEAGTDAW FWAGEEATIN SWFWNGEEAG NSFSTKNDKP EIGAQVCAEE 150
    LEPAAGADCK PRSGAEEEEE ENVIGNWFWE GDDTSFDPNP KPVSRIVKPQ 200
    PVYEINEKNR PKDWSEVTIW PNAPAVTPAV LGFRSQAPSE ASPPSYIVLA 250
    SAEENACSLP VATACRPSRN TRSCSQPIPE CRFDSDPCIQ TIDEIRRQIR 300
    IREVNGIKPF ACPCKMECYM DSEEFEKLVS LLKSTTDPLI HKIARIAMGV 350
    HNVHPFAQEF INEVGVVTLI ESLLSFPSPE MRKKTVITLN PPSGDERQRK 400
    IELHVKHMCK ETMSFPLNSP GQQSGLKILG QLTTDFVHHY IVANYFSELF 450
    HLLSSGNCKT RNLVLKLLLN MSENPTAARD MINMKALAAL KLIFNQKEAK 500
    ANLVSGVAIF INIKEHIRKG SIVVVDHLSY NTLMAIFREV KEIIETM 547
    Length:547
    Mass (Da):60,291
    Last modified:July 5, 2004 - v1
    Checksum:iEC0E8D95CC7CE09D
    GO

    Sequence cautioni

    The sequence BAB21792.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti132 – 1321S → G.
    Corresponds to variant rs2179675 [ dbSNP | Ensembl ].
    VAR_049266
    Natural varianti318 – 3181C → R.
    Corresponds to variant rs4514179 [ dbSNP | Ensembl ].
    VAR_049267

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF547055 mRNA. Translation: AAQ12077.1.
    AB051488 mRNA. Translation: BAB21792.1. Different initiation.
    AL035427 Genomic DNA. Translation: CAI43061.1.
    CH471190 Genomic DNA. Translation: EAW54726.1.
    BC041409 mRNA. Translation: AAH41409.1.
    CCDSiCCDS14502.1.
    RefSeqiNP_001135996.1. NM_001142524.1.
    NP_001135997.1. NM_001142525.1.
    NP_001135998.1. NM_001142526.1.
    NP_001135999.1. NM_001142527.1.
    NP_001136000.1. NM_001142528.1.
    NP_001136001.1. NM_001142529.1.
    NP_001136002.1. NM_001142530.1.
    NP_085142.1. NM_030639.2.
    UniGeneiHs.4276.

    Genome annotation databases

    EnsembliENST00000361229; ENSP00000354675; ENSG00000198908.
    ENST00000372735; ENSP00000361820; ENSG00000198908.
    ENST00000447531; ENSP00000405893; ENSG00000198908.
    ENST00000448867; ENSP00000391722; ENSG00000198908.
    ENST00000457056; ENSP00000403226; ENSG00000198908.
    GeneIDi80823.
    KEGGihsa:80823.
    UCSCiuc004ejo.3. human.

    Polymorphism databases

    DMDMi74749201.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF547055 mRNA. Translation: AAQ12077.1 .
    AB051488 mRNA. Translation: BAB21792.1 . Different initiation.
    AL035427 Genomic DNA. Translation: CAI43061.1 .
    CH471190 Genomic DNA. Translation: EAW54726.1 .
    BC041409 mRNA. Translation: AAH41409.1 .
    CCDSi CCDS14502.1.
    RefSeqi NP_001135996.1. NM_001142524.1.
    NP_001135997.1. NM_001142525.1.
    NP_001135998.1. NM_001142526.1.
    NP_001135999.1. NM_001142527.1.
    NP_001136000.1. NM_001142528.1.
    NP_001136001.1. NM_001142529.1.
    NP_001136002.1. NM_001142530.1.
    NP_085142.1. NM_030639.2.
    UniGenei Hs.4276.

    3D structure databases

    ProteinModelPortali Q6PI77.
    SMRi Q6PI77. Positions 326-381, 445-514.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123320. 4 interactions.
    STRINGi 9606.ENSP00000354675.

    PTM databases

    PhosphoSitei Q6PI77.

    Polymorphism databases

    DMDMi 74749201.

    Proteomic databases

    PaxDbi Q6PI77.
    PRIDEi Q6PI77.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361229 ; ENSP00000354675 ; ENSG00000198908 .
    ENST00000372735 ; ENSP00000361820 ; ENSG00000198908 .
    ENST00000447531 ; ENSP00000405893 ; ENSG00000198908 .
    ENST00000448867 ; ENSP00000391722 ; ENSG00000198908 .
    ENST00000457056 ; ENSP00000403226 ; ENSG00000198908 .
    GeneIDi 80823.
    KEGGi hsa:80823.
    UCSCi uc004ejo.3. human.

    Organism-specific databases

    CTDi 80823.
    GeneCardsi GC0XP101975.
    H-InvDB HIX0176723.
    HGNCi HGNC:29353. BHLHB9.
    HPAi HPA020457.
    MIMi 300921. gene.
    neXtProti NX_Q6PI77.
    PharmGKBi PA134895992.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39230.
    HOGENOMi HOG000095228.
    HOVERGENi HBG098352.
    InParanoidi Q6PI77.
    OMAi TTDPLIH.
    OrthoDBi EOG70PBZ0.
    PhylomeDBi Q6PI77.
    TreeFami TF335652.

    Miscellaneous databases

    GenomeRNAii 80823.
    NextBioi 71228.
    PROi Q6PI77.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6PI77.
    CleanExi HS_BHLHB9.
    Genevestigatori Q6PI77.

    Family and domain databases

    Gene3Di 1.25.10.10. 1 hit.
    InterProi IPR011989. ARM-like.
    IPR006911. ARM-rpt_dom.
    IPR016024. ARM-type_fold.
    [Graphical view ]
    Pfami PF04826. Arm_2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Characterizing the new transcription regulator protein p60TRP."
      Heese K., Yamada T., Akatsu H., Yamamoto T., Kosaka K., Nagai Y., Sawada T.
      J. Cell. Biochem. 91:1030-1042(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], POSSIBLE FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    2. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
      DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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].
      Tissue: Brain.
    6. "Discovery of epigenetically silenced genes by methylated DNA immunoprecipitation in colon cancer cells."
      Jacinto F.V., Ballestar E., Ropero S., Esteller M.
      Cancer Res. 67:11481-11486(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.

    Entry informationi

    Entry nameiBHLH9_HUMAN
    AccessioniPrimary (citable) accession number: Q6PI77
    Secondary accession number(s): Q9C0G2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 20, 2008
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 85 of the entry and version 1 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

    Caution

    Despite its name, no basic helix-loop-helix (bHLH) domain is detected by any prediction tool.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3