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Q7RTS1

- BHA15_HUMAN

UniProt

Q7RTS1 - BHA15_HUMAN

Protein

Class A basic helix-loop-helix protein 15

Gene

BHLHA15

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 1 (15 Dec 2003)
      Previous versions | rss
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    Functioni

    Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E-box occupancy by homodimers. May also negatively regulate bHLH-mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages. Binds to the E-box consensus sequence 5'-CANNTG-3' By similarity.By similarity

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. regulation of transcription, DNA-templated Source: UniProtKB-KW
    2. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Class A basic helix-loop-helix protein 15
    Short name:
    bHLHa15
    Alternative name(s):
    Class B basic helix-loop-helix protein 8
    Short name:
    bHLHb8
    Muscle, intestine and stomach expression 1
    Short name:
    MIST-1
    Gene namesi
    Name:BHLHA15
    Synonyms:BHLHB8, MIST1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:22265. BHLHA15.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164716601.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 189189Class A basic helix-loop-helix protein 15PRO_0000127150Add
    BLAST

    Proteomic databases

    MaxQBiQ7RTS1.
    PaxDbiQ7RTS1.
    PRIDEiQ7RTS1.

    PTM databases

    PhosphoSiteiQ7RTS1.

    Expressioni

    Tissue specificityi

    Expressed in brain, liver, spleen and skeletal muscle.1 Publication

    Gene expression databases

    BgeeiQ7RTS1.
    GenevestigatoriQ7RTS1.

    Organism-specific databases

    HPAiCAB034083.
    HPA047834.

    Interactioni

    Subunit structurei

    Forms homodimers or heterodimers with TCF3 gene products E12 and E47. These dimers bind to the E-box site, however, heterodimer with MYOD1 does not bind target DNA By similarity.By similarity

    Protein-protein interaction databases

    BioGridi127970. 1 interaction.
    STRINGi9606.ENSP00000326391.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7RTS1.
    SMRiQ7RTS1. Positions 76-128.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini75 – 12753bHLHPROSITE-ProRule annotationAdd
    BLAST

    Domaini

    Lacks a classic transcription activation domain and instead possesses an N-terminal region capable of inhibiting heterologous activators.By similarity

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG299224.
    HOGENOMiHOG000095227.
    InParanoidiQ7RTS1.
    KOiK08040.
    OMAiPEPAKGL.
    OrthoDBiEOG7GQXWR.
    PhylomeDBiQ7RTS1.
    TreeFamiTF315153.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q7RTS1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKTKNRPPRR RAPVQDTEAT PGEGTPDGSL PNPGPEPAKG LRSRPARAAA    50
    RAPGEGRRRR PGPSGPGGRR DSSIQRRLES NERERQRMHK LNNAFQALRE 100
    VIPHVRADKK LSKIETLTLA KNYIKSLTAT ILTMSSSRLP GLEGPGPKLY 150
    QHYQQQQQVA GGALGATEAQ PQGHLQRYST QIHSFREGT 189
    Length:189
    Mass (Da):20,818
    Last modified:December 15, 2003 - v1
    Checksum:i38D7230D85F16D22
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC025605 Genomic DNA. No translation available.
    CH236956 Genomic DNA. Translation: EAL23893.1.
    BC113394 mRNA. Translation: AAI13395.1.
    BC113396 mRNA. Translation: AAI13397.1.
    BK000276 mRNA. Translation: DAA01056.1.
    CCDSiCCDS5655.1.
    RefSeqiNP_803238.1. NM_177455.3.
    UniGeneiHs.674510.

    Genome annotation databases

    EnsembliENST00000314018; ENSP00000326391; ENSG00000180535.
    ENST00000609256; ENSP00000476312; ENSG00000180535.
    GeneIDi168620.
    KEGGihsa:168620.
    UCSCiuc003upe.1. human.

    Polymorphism databases

    DMDMi50400944.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC025605 Genomic DNA. No translation available.
    CH236956 Genomic DNA. Translation: EAL23893.1 .
    BC113394 mRNA. Translation: AAI13395.1 .
    BC113396 mRNA. Translation: AAI13397.1 .
    BK000276 mRNA. Translation: DAA01056.1 .
    CCDSi CCDS5655.1.
    RefSeqi NP_803238.1. NM_177455.3.
    UniGenei Hs.674510.

    3D structure databases

    ProteinModelPortali Q7RTS1.
    SMRi Q7RTS1. Positions 76-128.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127970. 1 interaction.
    STRINGi 9606.ENSP00000326391.

    PTM databases

    PhosphoSitei Q7RTS1.

    Polymorphism databases

    DMDMi 50400944.

    Proteomic databases

    MaxQBi Q7RTS1.
    PaxDbi Q7RTS1.
    PRIDEi Q7RTS1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000314018 ; ENSP00000326391 ; ENSG00000180535 .
    ENST00000609256 ; ENSP00000476312 ; ENSG00000180535 .
    GeneIDi 168620.
    KEGGi hsa:168620.
    UCSCi uc003upe.1. human.

    Organism-specific databases

    CTDi 168620.
    GeneCardsi GC07P097841.
    HGNCi HGNC:22265. BHLHA15.
    HPAi CAB034083.
    HPA047834.
    MIMi 608606. gene.
    neXtProti NX_Q7RTS1.
    PharmGKBi PA164716601.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG299224.
    HOGENOMi HOG000095227.
    InParanoidi Q7RTS1.
    KOi K08040.
    OMAi PEPAKGL.
    OrthoDBi EOG7GQXWR.
    PhylomeDBi Q7RTS1.
    TreeFami TF315153.

    Miscellaneous databases

    GeneWikii BHLHB8.
    GenomeRNAii 168620.
    NextBioi 88762.
    PROi Q7RTS1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q7RTS1.
    Genevestigatori Q7RTS1.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
    4. "Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening."
      McLellan A.S., Langlands K., Kealey T.
      Mech. Dev. 119:S285-S291(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION, TISSUE SPECIFICITY.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiBHA15_HUMAN
    AccessioniPrimary (citable) accession number: Q7RTS1
    Secondary accession number(s): A4D271, Q14DE4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: December 15, 2003
    Last modified: October 1, 2014
    This is version 91 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: 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