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Q9NQ33

- ASCL3_HUMAN

UniProt

Q9NQ33 - ASCL3_HUMAN

Protein

Achaete-scute homolog 3

Gene

ASCL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 2 (02 May 2002)
      Previous versions | rss
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    Functioni

    Transcriptional repressor. Inhibits myogenesis By similarity.By similarity

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB

    GO - Biological processi

    1. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    2. transcription, DNA-templated Source: UniProtKB

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Achaete-scute homolog 3
    Short name:
    ASH-3
    Short name:
    hASH3
    Alternative name(s):
    Class A basic helix-loop-helix protein 42
    Short name:
    bHLHa42
    bHLH transcriptional regulator Sgn-1
    Gene namesi
    Name:ASCL3
    Synonyms:BHLHA42, HASH3, SGN1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:740. ASCL3.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25040.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 180180Achaete-scute homolog 3PRO_0000127133Add
    BLAST

    Proteomic databases

    PaxDbiQ9NQ33.
    PRIDEiQ9NQ33.

    PTM databases

    PhosphoSiteiQ9NQ33.

    Expressioni

    Tissue specificityi

    Widely expressed in fetal and adult tissues.1 Publication

    Gene expression databases

    BgeeiQ9NQ33.
    CleanExiHS_ASCL3.
    GenevestigatoriQ9NQ33.

    Organism-specific databases

    HPAiHPA027032.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein.By similarity

    Protein-protein interaction databases

    BioGridi121184. 6 interactions.
    STRINGi9606.ENSP00000318846.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQ33.
    SMRiQ9NQ33. Positions 98-148.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini92 – 14453bHLHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG273711.
    HOGENOMiHOG000034089.
    HOVERGENiHBG050591.
    InParanoidiQ9NQ33.
    KOiK09067.
    OMAiPYPNYRR.
    OrthoDBiEOG7HHWTC.
    PhylomeDBiQ9NQ33.
    TreeFamiTF322889.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR015660. ASH.
    IPR011598. bHLH_dom.
    [Graphical view]
    PANTHERiPTHR13935. PTHR13935. 1 hit.
    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.

    Q9NQ33-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDNRGNSSLP DKLPIFPDSA RLPLTRSFYL EPMVTFHVHP EAPVSSPYSE    50
    ELPRLPFPSD SLILGNYSEP CPFSFPMPYP NYRGCEYSYG PAFTRKRNER 100
    ERQRVKCVNE GYAQLRHHLP EEYLEKRLSK VETLRAAIKY INYLQSLLYP 150
    DKAETKNNPG KVSSMIATTS HHADPMFRIV 180
    Length:180
    Mass (Da):20,797
    Last modified:May 2, 2002 - v2
    Checksum:iC9B90C885DE94F81
    GO

    Sequence cautioni

    The sequence CAB92288.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541R → L.1 Publication
    Corresponds to variant rs4909951 [ dbSNP | Ensembl ].
    VAR_055948

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB046450 Genomic DNA. Translation: BAB83913.1.
    AJ400877 Genomic DNA. Translation: CAB92288.1. Different initiation.
    RefSeqiNP_065697.1. NM_020646.1.
    UniGeneiHs.501852.

    Genome annotation databases

    EnsembliENST00000531618; ENSP00000435770; ENSG00000176009.
    GeneIDi56676.
    KEGGihsa:56676.
    UCSCiuc001mhd.1. human.

    Polymorphism databases

    DMDMi20454833.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB046450 Genomic DNA. Translation: BAB83913.1 .
    AJ400877 Genomic DNA. Translation: CAB92288.1 . Different initiation.
    RefSeqi NP_065697.1. NM_020646.1.
    UniGenei Hs.501852.

    3D structure databases

    ProteinModelPortali Q9NQ33.
    SMRi Q9NQ33. Positions 98-148.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121184. 6 interactions.
    STRINGi 9606.ENSP00000318846.

    PTM databases

    PhosphoSitei Q9NQ33.

    Polymorphism databases

    DMDMi 20454833.

    Proteomic databases

    PaxDbi Q9NQ33.
    PRIDEi Q9NQ33.

    Protocols and materials databases

    DNASUi 56676.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000531618 ; ENSP00000435770 ; ENSG00000176009 .
    GeneIDi 56676.
    KEGGi hsa:56676.
    UCSCi uc001mhd.1. human.

    Organism-specific databases

    CTDi 56676.
    GeneCardsi GC11M008959.
    HGNCi HGNC:740. ASCL3.
    HPAi HPA027032.
    MIMi 609154. gene.
    neXtProti NX_Q9NQ33.
    PharmGKBi PA25040.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG273711.
    HOGENOMi HOG000034089.
    HOVERGENi HBG050591.
    InParanoidi Q9NQ33.
    KOi K09067.
    OMAi PYPNYRR.
    OrthoDBi EOG7HHWTC.
    PhylomeDBi Q9NQ33.
    TreeFami TF322889.

    Miscellaneous databases

    GenomeRNAii 56676.
    NextBioi 62181.
    PROi Q9NQ33.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NQ33.
    CleanExi HS_ASCL3.
    Genevestigatori Q9NQ33.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR015660. ASH.
    IPR011598. bHLH_dom.
    [Graphical view ]
    PANTHERi PTHR13935. PTHR13935. 1 hit.
    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. "Sgn1, a basic helix-loop-helix transcription factor delineates the salivary gland duct cell lineage in mice."
      Yoshida S., Ohbo K., Takakura A., Takebayashi H., Okada T., Abe K., Nabeshima Y.
      Dev. Biol. 240:517-530(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LEU-54.
    2. "Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7."
      Amid C., Bahr A., Mujica A., Sampson N., Bikar S.E., Winterpacht A., Zabel B., Hankeln T., Schmidt E.R.
      Cytogenet. Cell Genet. 93:284-290(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Hash4, a novel human achaete-scute homologue found in fetal skin."
      Jonsson M., Bjoerntorp Mark E., Brantsing C., Brandner J.M., Lindahl A., Asp J.
      Genomics 84:859-866(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiASCL3_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQ33
    Secondary accession number(s): Q8WYQ6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2002
    Last sequence update: May 2, 2002
    Last modified: October 1, 2014
    This is version 111 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 11
      Human chromosome 11: 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