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Q99929

- ASCL2_HUMAN

UniProt

Q99929 - ASCL2_HUMAN

Protein

Achaete-scute homolog 2

Gene

ASCL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (01 Dec 2000)
      Previous versions | rss
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    Functioni

    AS-C proteins are involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system.

    GO - Molecular functioni

    1. E-box binding Source: UniProtKB
    2. sequence-specific DNA binding Source: Ensembl
    3. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. negative regulation of Schwann cell proliferation Source: Ensembl
    2. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    3. placenta development Source: UniProtKB
    4. regulation of transcription, DNA-templated Source: UniProtKB
    5. response to hypoxia Source: UniProtKB
    6. somatic stem cell maintenance Source: Ensembl
    7. spongiotrophoblast differentiation Source: Ensembl
    8. spongiotrophoblast layer development Source: UniProtKB
    9. transcription, DNA-templated Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Achaete-scute homolog 2
    Short name:
    ASH-2
    Short name:
    hASH2
    Alternative name(s):
    Class A basic helix-loop-helix protein 45
    Short name:
    bHLHa45
    Mash2
    Gene namesi
    Name:ASCL2
    Synonyms:BHLHA45, HASH2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:739. ASCL2.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25039.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 193193Achaete-scute homolog 2PRO_0000127130Add
    BLAST

    Proteomic databases

    PaxDbiQ99929.
    PRIDEiQ99929.

    PTM databases

    PhosphoSiteiQ99929.

    Expressioni

    Tissue specificityi

    Expressed specifically in the extravillous trophoblasts of the developing placenta.

    Gene expression databases

    BgeeiQ99929.
    CleanExiHS_ASCL2.
    GenevestigatoriQ99929.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein. Interacts with SETD1A.Part of a complex composed at least of ASCL2, C11orf30/EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity.2 Publications

    Protein-protein interaction databases

    BioGridi106922. 8 interactions.
    STRINGi9606.ENSP00000332293.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99929.
    SMRiQ99929. Positions 54-106.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini50 – 10253bHLHPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi36 – 394Poly-Arg

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG243363.
    HOGENOMiHOG000013056.
    HOVERGENiHBG050590.
    InParanoidiQ99929.
    KOiK09067.
    OMAiGCEGELS.
    OrthoDBiEOG7HHWTC.
    PhylomeDBiQ99929.
    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.

    Q99929-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDGGTLPRSA PPAPPVPVGC AARRRPASPE LLRCSRRRRP ATAETGGGAA    50
    AVARRNERER NRVKLVNLGF QALRQHVPHG GASKKLSKVE TLRSAVEYIR 100
    ALQRLLAEHD AVRNALAGGL RPQAVRPSAP RGPPGTTPVA ASPSRASSSP 150
    GRGGSSEPGS PRSAYSSDDS GCEGALSPAE RELLDFSSWL GGY 193
    Length:193
    Mass (Da):20,185
    Last modified:December 1, 2000 - v2
    Checksum:iE59A71342E6D46C8
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U77629 Genomic DNA. Translation: AAB86993.1.
    AF442769 Genomic DNA. Translation: AAL35362.1.
    BC057801 mRNA. Translation: AAH57801.2.
    BC136561 mRNA. Translation: AAI36562.1.
    BC136567 mRNA. Translation: AAI36568.1.
    S82817 Genomic DNA. Translation: AAB39362.1.
    CCDSiCCDS7732.1.
    RefSeqiNP_005161.1. NM_005170.2.
    UniGeneiHs.152475.

    Genome annotation databases

    EnsembliENST00000331289; ENSP00000332293; ENSG00000183734.
    GeneIDi430.
    KEGGihsa:430.
    UCSCiuc001lvu.3. human.

    Polymorphism databases

    DMDMi12644476.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U77629 Genomic DNA. Translation: AAB86993.1 .
    AF442769 Genomic DNA. Translation: AAL35362.1 .
    BC057801 mRNA. Translation: AAH57801.2 .
    BC136561 mRNA. Translation: AAI36562.1 .
    BC136567 mRNA. Translation: AAI36568.1 .
    S82817 Genomic DNA. Translation: AAB39362.1 .
    CCDSi CCDS7732.1.
    RefSeqi NP_005161.1. NM_005170.2.
    UniGenei Hs.152475.

    3D structure databases

    ProteinModelPortali Q99929.
    SMRi Q99929. Positions 54-106.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106922. 8 interactions.
    STRINGi 9606.ENSP00000332293.

    PTM databases

    PhosphoSitei Q99929.

    Polymorphism databases

    DMDMi 12644476.

    Proteomic databases

    PaxDbi Q99929.
    PRIDEi Q99929.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331289 ; ENSP00000332293 ; ENSG00000183734 .
    GeneIDi 430.
    KEGGi hsa:430.
    UCSCi uc001lvu.3. human.

    Organism-specific databases

    CTDi 430.
    GeneCardsi GC11M002289.
    HGNCi HGNC:739. ASCL2.
    MIMi 601886. gene.
    neXtProti NX_Q99929.
    PharmGKBi PA25039.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG243363.
    HOGENOMi HOG000013056.
    HOVERGENi HBG050590.
    InParanoidi Q99929.
    KOi K09067.
    OMAi GCEGELS.
    OrthoDBi EOG7HHWTC.
    PhylomeDBi Q99929.
    TreeFami TF322889.

    Miscellaneous databases

    GeneWikii ASCL2.
    GenomeRNAii 430.
    NextBioi 1797.
    PROi Q99929.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q99929.
    CleanExi HS_ASCL2.
    Genevestigatori Q99929.

    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. "The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts."
      Alders M., Hodges M., Hadjantonakis A.-K., Postmus J., van Wijk I.J., Bliek J., de Meulemeester M., Westerveld A., Guillemot F., Oudejans C.B., Little P., Mannens M.
      Hum. Mol. Genet. 6:859-867(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "The human Achaete Scute homolog 2 gene contains two promotors, generating overlapping transcripts and encoding two proteins with different nuclear localization."
      Westerman B.A., Poutsma A., Looijenga L.H., Wouters D., van Wijk I.J., Oudejans C.B.
      Placenta 22:511-518(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION.
    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. "Genomic cloning and localization to chromosome 11p15.5 of the human achaete-scute homolog 2 (ASCL2)."
      Miyamoto T., Jinno Y., Sasaki T., Ikeda Y., Masuzaki H., Niikawa N., Ishikawa M.
      Cytogenet. Cell Genet. 73:312-314(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 34-101.
    5. "Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation."
      Garapaty S., Xu C.F., Trojer P., Mahajan M.A., Neubert T.A., Samuels H.H.
      J. Biol. Chem. 284:7542-7552(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN A COMPLEX WITH HCFC1; MKI67; C11ORF30; MATR3; HSPA8; ZNF335; CCAR2; ZNF335; RBBP5 AND WDR5.
    6. Cited for: INTERACTION WITH ZNF335.

    Entry informationi

    Entry nameiASCL2_HUMAN
    AccessioniPrimary (citable) accession number: Q99929
    Secondary accession number(s): Q6PEY9, Q9UM68
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: December 1, 2000
    Last modified: October 1, 2014
    This is version 117 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. 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