Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P50553

- ASCL1_HUMAN

UniProt

P50553 - ASCL1_HUMAN

Protein

Achaete-scute homolog 1

Gene

ASCL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 2 (02 May 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Transcription factor that controls transcriptional expression of its target genes by binding to the E box (5'-CANNTG-3'). Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation. Essential for the generation of olfactory and autonomic neurons By similarity.By similarity

    GO - Molecular functioni

    1. bHLH transcription factor binding Source: UniProtKB
    2. DNA binding Source: UniProtKB
    3. double-stranded DNA binding Source: Ensembl
    4. E-box binding Source: UniProtKB
    5. protein binding Source: IntAct
    6. sequence-specific DNA binding Source: Ensembl
    7. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    8. transcription factor binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. adrenal chromaffin cell differentiation Source: Ensembl
    2. carotid body glomus cell differentiation Source: Ensembl
    3. cellular response to magnetism Source: Ensembl
    4. central nervous system neuron development Source: Ensembl
    5. cerebral cortex development Source: Ensembl
    6. cerebral cortex GABAergic interneuron differentiation Source: UniProtKB
    7. lung epithelial cell differentiation Source: UniProtKB
    8. lung neuroendocrine cell differentiation Source: Ensembl
    9. musculoskeletal movement, spinal reflex action Source: Ensembl
    10. negative regulation of apoptotic process Source: UniProtKB
    11. negative regulation of neuron differentiation Source: UniProtKB
    12. negative regulation of transcription, DNA-templated Source: UniProtKB
    13. neuroblast fate determination Source: Ensembl
    14. neuroblast proliferation Source: Ensembl
    15. neurogenesis Source: UniProtKB
    16. neuron fate specification Source: Ensembl
    17. neuron migration Source: Ensembl
    18. noradrenergic neuron development Source: UniProtKB
    19. noradrenergic neuron fate commitment Source: UniProtKB
    20. Notch signaling pathway Source: UniProtKB
    21. olfactory pit development Source: Ensembl
    22. oligodendrocyte development Source: Ensembl
    23. positive regulation of cell cycle Source: Ensembl
    24. positive regulation of neural precursor cell proliferation Source: Ensembl
    25. positive regulation of neurogenesis Source: Ensembl
    26. positive regulation of neuron apoptotic process Source: Ensembl
    27. positive regulation of neuron differentiation Source: UniProtKB
    28. positive regulation of Notch signaling pathway Source: Ensembl
    29. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    30. regulation of gene expression Source: UniProtKB
    31. regulation of timing of subpallium neuron differentiation Source: Ensembl
    32. response to epidermal growth factor Source: Ensembl
    33. response to folic acid Source: Ensembl
    34. response to lithium ion Source: Ensembl
    35. response to retinoic acid Source: UniProtKB
    36. spinal cord association neuron differentiation Source: Ensembl
    37. spinal cord oligodendrocyte cell fate specification Source: Ensembl
    38. stomach neuroendocrine cell differentiation Source: Ensembl
    39. subpallium neuron fate commitment Source: Ensembl
    40. sympathetic ganglion development Source: UniProtKB
    41. sympathetic nervous system development Source: UniProtKB
    42. transcription, DNA-templated Source: UniProtKB-KW
    43. ventral spinal cord interneuron fate commitment Source: UniProtKB
    44. vestibular nucleus development Source: Ensembl

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiP50553.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Achaete-scute homolog 1
    Short name:
    ASH-1
    Short name:
    hASH1
    Alternative name(s):
    Class A basic helix-loop-helix protein 46
    Short name:
    bHLHa46
    Gene namesi
    Name:ASCL1
    Synonyms:ASH1, BHLHA46, HASH1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:738. ASCL1.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. neuronal cell body Source: Ensembl
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti99803. Haddad syndrome.
    661. Ondine syndrome.
    PharmGKBiPA26416.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 236236Achaete-scute homolog 1PRO_0000127126Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei156 – 1561N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    PaxDbiP50553.
    PRIDEiP50553.

    PTM databases

    PhosphoSiteiP50553.

    Expressioni

    Gene expression databases

    BgeeiP50553.
    CleanExiHS_ASCL1.
    GenevestigatoriP50553.

    Organism-specific databases

    HPAiHPA029217.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    TCF3P159233EBI-957042,EBI-769630
    TCF4P158847EBI-957042,EBI-533224

    Protein-protein interaction databases

    BioGridi106921. 5 interactions.
    IntActiP50553. 2 interactions.
    STRINGi9606.ENSP00000266744.

    Structurei

    3D structure databases

    ProteinModelPortaliP50553.
    SMRiP50553. Positions 122-174.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini118 – 17053bHLHPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi33 – 4715Poly-AlaAdd
    BLAST
    Compositional biasi51 – 6212Poly-GlnAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG243363.
    HOGENOMiHOG000013056.
    HOVERGENiHBG050590.
    InParanoidiP50553.
    KOiK09067.
    OMAiRCKRRLN.
    OrthoDBiEOG7RFTMH.
    PhylomeDBiP50553.
    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.

    P50553-1 [UniParc]FASTAAdd to Basket

    « Hide

    MESSAKMESG GAGQQPQPQP QQPFLPPAAC FFATAAAAAA AAAAAAAQSA    50
    QQQQQQQQQQ QQAPQLRPAA DGQPSGGGHK SAPKQVKRQR SSSPELMRCK 100
    RRLNFSGFGY SLPQQQPAAV ARRNERERNR VKLVNLGFAT LREHVPNGAA 150
    NKKMSKVETL RSAVEYIRAL QQLLDEHDAV SAAFQAGVLS PTISPNYSND 200
    LNSMAGSPVS SYSSDEGSYD PLSPEEQELL DFTNWF 236
    Length:236
    Mass (Da):25,454
    Last modified:May 2, 2002 - v2
    Checksum:iA7D784329305B49A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti62 – 621Q → QQQ in AAA58376. (PubMed:8390674)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti158 – 1581E → G.
    Corresponds to variant rs1803157 [ dbSNP | Ensembl ].
    VAR_013179

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L08424 mRNA. Translation: AAA58376.1.
    AK290539 mRNA. Translation: BAF83228.1.
    CH471054 Genomic DNA. Translation: EAW97703.1.
    BC001638 mRNA. No translation available.
    BC002341 mRNA. Translation: AAH02341.1.
    BC003134 mRNA. Translation: AAH03134.1.
    BC004425 mRNA. Translation: AAH04425.1.
    BC031299 mRNA. Translation: AAH31299.1.
    CCDSiCCDS31886.1.
    PIRiA48279.
    RefSeqiNP_004307.2. NM_004316.3.
    UniGeneiHs.703025.

    Genome annotation databases

    EnsembliENST00000266744; ENSP00000266744; ENSG00000139352.
    GeneIDi429.
    KEGGihsa:429.
    UCSCiuc001tjr.4. human.

    Polymorphism databases

    DMDMi20455478.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L08424 mRNA. Translation: AAA58376.1 .
    AK290539 mRNA. Translation: BAF83228.1 .
    CH471054 Genomic DNA. Translation: EAW97703.1 .
    BC001638 mRNA. No translation available.
    BC002341 mRNA. Translation: AAH02341.1 .
    BC003134 mRNA. Translation: AAH03134.1 .
    BC004425 mRNA. Translation: AAH04425.1 .
    BC031299 mRNA. Translation: AAH31299.1 .
    CCDSi CCDS31886.1.
    PIRi A48279.
    RefSeqi NP_004307.2. NM_004316.3.
    UniGenei Hs.703025.

    3D structure databases

    ProteinModelPortali P50553.
    SMRi P50553. Positions 122-174.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106921. 5 interactions.
    IntActi P50553. 2 interactions.
    STRINGi 9606.ENSP00000266744.

    PTM databases

    PhosphoSitei P50553.

    Polymorphism databases

    DMDMi 20455478.

    Proteomic databases

    PaxDbi P50553.
    PRIDEi P50553.

    Protocols and materials databases

    DNASUi 429.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000266744 ; ENSP00000266744 ; ENSG00000139352 .
    GeneIDi 429.
    KEGGi hsa:429.
    UCSCi uc001tjr.4. human.

    Organism-specific databases

    CTDi 429.
    GeneCardsi GC12P103352.
    HGNCi HGNC:738. ASCL1.
    HPAi HPA029217.
    MIMi 100790. gene.
    neXtProti NX_P50553.
    Orphaneti 99803. Haddad syndrome.
    661. Ondine syndrome.
    PharmGKBi PA26416.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG243363.
    HOGENOMi HOG000013056.
    HOVERGENi HBG050590.
    InParanoidi P50553.
    KOi K09067.
    OMAi RCKRRLN.
    OrthoDBi EOG7RFTMH.
    PhylomeDBi P50553.
    TreeFami TF322889.

    Enzyme and pathway databases

    SignaLinki P50553.

    Miscellaneous databases

    GeneWikii ASCL1.
    GenomeRNAii 429.
    NextBioi 1793.
    PROi P50553.
    SOURCEi Search...

    Gene expression databases

    Bgeei P50553.
    CleanExi HS_ASCL1.
    Genevestigatori P50553.

    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. "Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors."
      Ball D.W., Azzoli C.G., Baylin S.B., Chi D., Dou S., Donis-Keller H., Cumaraswamy A., Borges M., Nelkin B.D.
      Proc. Natl. Acad. Sci. U.S.A. 90:5648-5652(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Thyroid carcinoma.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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: Lung.

    Entry informationi

    Entry nameiASCL1_HUMAN
    AccessioniPrimary (citable) accession number: P50553
    Secondary accession number(s): A8K3C4, Q9BQ30
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: May 2, 2002
    Last modified: October 1, 2014
    This is version 138 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 12
      Human chromosome 12: 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