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Q6XD76

- ASCL4_HUMAN

UniProt

Q6XD76 - ASCL4_HUMAN

Protein

Achaete-scute homolog 4

Gene

ASCL4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
  1. Functioni

    Could be a transcriptional regulator involved in skin development.1 Publication

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW

    GO - Biological processi

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

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Achaete-scute homolog 4
    Short name:
    ASH-4
    Short name:
    hASH4
    Alternative name(s):
    Achaete-scute-like protein 4
    Class A basic helix-loop-helix protein 44
    Short name:
    bHLHa44
    Gene namesi
    Name:ASCL4
    Synonyms:BHLHA44, HASH4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:24311. ASCL4.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134869300.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 172172Achaete-scute homolog 4PRO_0000317297Add
    BLAST

    Proteomic databases

    PaxDbiQ6XD76.
    PRIDEiQ6XD76.

    PTM databases

    PhosphoSiteiQ6XD76.

    Expressioni

    Tissue specificityi

    Expressed in skin. 7-fold higher expression in fetal skin than in adult skin. Weak expression also detected in fetal lung, aorta and brain, and in adult stomach, kidney, ovary and breast.1 Publication

    Gene expression databases

    BgeeiQ6XD76.
    CleanExiHS_ASCL4.
    GenevestigatoriQ6XD76.

    Organism-specific databases

    HPAiHPA036116.

    Interactioni

    Protein-protein interaction databases

    BioGridi125737. 1 interaction.
    STRINGi9606.ENSP00000345420.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6XD76.
    SMRiQ6XD76. Positions 78-131.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini72 – 12453bHLHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG309992.
    HOGENOMiHOG000034089.
    InParanoidiQ6XD76.
    KOiK09067.
    OMAiTSEYQTE.
    OrthoDBiEOG7B5WZK.
    PhylomeDBiQ6XD76.
    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.

    Q6XD76-1 [UniParc]FASTAAdd to Basket

    « Hide

    METRKPAERL ALPYSLRTAP LGVPGTLPGL PRRDPLRVAL RLDAACWEWA    50
    RSGCARGWQY LPVPLDSAFE PAFLRKRNER ERQRVRCVNE GYARLRDHLP 100
    RELADKRLSK VETLRAAIDY IKHLQELLER QAWGLEGAAG AVPQRRAECN 150
    SDGESKASSA PSPSSEPEEG GS 172
    Length:172
    Mass (Da):19,253
    Last modified:July 5, 2004 - v1
    Checksum:i94686681C4E64FB1
    GO

    Sequence cautioni

    The sequence DAA01055.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY238895 mRNA. Translation: AAP69222.1.
    AC007622 Genomic DNA. No translation available.
    BC128211 mRNA. Translation: AAI28212.1.
    BC128212 mRNA. Translation: AAI28213.1.
    BK000275 mRNA. Translation: DAA01055.1. Different initiation.
    RefSeqiNP_982260.2. NM_203436.2.
    UniGeneiHs.149910.

    Genome annotation databases

    EnsembliENST00000342331; ENSP00000345420; ENSG00000187855.
    GeneIDi121549.
    KEGGihsa:121549.
    UCSCiuc001tmr.3. human.

    Polymorphism databases

    DMDMi74749505.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY238895 mRNA. Translation: AAP69222.1 .
    AC007622 Genomic DNA. No translation available.
    BC128211 mRNA. Translation: AAI28212.1 .
    BC128212 mRNA. Translation: AAI28213.1 .
    BK000275 mRNA. Translation: DAA01055.1 . Different initiation.
    RefSeqi NP_982260.2. NM_203436.2.
    UniGenei Hs.149910.

    3D structure databases

    ProteinModelPortali Q6XD76.
    SMRi Q6XD76. Positions 78-131.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125737. 1 interaction.
    STRINGi 9606.ENSP00000345420.

    PTM databases

    PhosphoSitei Q6XD76.

    Polymorphism databases

    DMDMi 74749505.

    Proteomic databases

    PaxDbi Q6XD76.
    PRIDEi Q6XD76.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000342331 ; ENSP00000345420 ; ENSG00000187855 .
    GeneIDi 121549.
    KEGGi hsa:121549.
    UCSCi uc001tmr.3. human.

    Organism-specific databases

    CTDi 121549.
    GeneCardsi GC12P108168.
    HGNCi HGNC:24311. ASCL4.
    HPAi HPA036116.
    MIMi 609155. gene.
    neXtProti NX_Q6XD76.
    PharmGKBi PA134869300.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG309992.
    HOGENOMi HOG000034089.
    InParanoidi Q6XD76.
    KOi K09067.
    OMAi TSEYQTE.
    OrthoDBi EOG7B5WZK.
    PhylomeDBi Q6XD76.
    TreeFami TF322889.

    Miscellaneous databases

    GenomeRNAii 121549.
    NextBioi 80770.
    PROi Q6XD76.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6XD76.
    CleanExi HS_ASCL4.
    Genevestigatori Q6XD76.

    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. "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: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
      Tissue: Skin.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [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.

    Entry informationi

    Entry nameiASCL4_HUMAN
    AccessioniPrimary (citable) accession number: Q6XD76
    Secondary accession number(s): Q7RTS2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 84 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 12
      Human chromosome 12: 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