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P12980

- LYL1_HUMAN

UniProt

P12980 - LYL1_HUMAN

Protein

Protein lyl-1

Gene

LYL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 3 (14 Apr 2009)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. B cell differentiation Source: UniProtKB
    2. blood vessel maturation Source: UniProtKB
    3. definitive hemopoiesis Source: UniProtKB
    4. positive regulation of transcription, DNA-templated Source: UniProtKB
    5. regulation of transcription, DNA-templated Source: UniProtKB
    6. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein lyl-1
    Alternative name(s):
    Class A basic helix-loop-helix protein 18
    Short name:
    bHLHa18
    Lymphoblastic leukemia-derived sequence 1
    Gene namesi
    Name:LYL1
    Synonyms:BHLHA18
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:6734. LYL1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving LYL1 may be a cause of a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(7;19)(q35;p13) with TCRB.

    Keywords - Diseasei

    Proto-oncogene

    Organism-specific databases

    MIMi151440. gene+phenotype.
    PharmGKBiPA30497.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 280280Protein lyl-1PRO_0000127262Add
    BLAST

    Proteomic databases

    PaxDbiP12980.
    PRIDEiP12980.

    PTM databases

    PhosphoSiteiP12980.

    Expressioni

    Gene expression databases

    ArrayExpressiP12980.
    BgeeiP12980.
    CleanExiHS_LYL1.
    GenevestigatoriP12980.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein.

    Protein-protein interaction databases

    BioGridi110244. 8 interactions.
    DIPiDIP-40885N.
    IntActiP12980. 1 interaction.
    MINTiMINT-85715.
    STRINGi9606.ENSP00000264824.

    Structurei

    3D structure databases

    ProteinModelPortaliP12980.
    SMRiP12980. Positions 148-209.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini150 – 20253bHLHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG307510.
    HOGENOMiHOG000113414.
    HOVERGENiHBG094957.
    InParanoidiP12980.
    KOiK15604.
    OMAiIKMEQTA.
    OrthoDBiEOG7SN8DF.
    PhylomeDBiP12980.
    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.

    P12980-1 [UniParc]FASTAAdd to Basket

    « Hide

    MCPPQAQAEV GPTMTEKAEM VCAPSPAPAP PPKPASPGPP QVEEVGHRGG    50
    SSPPRLPPGV PVISLGHSRP PGVAMPTTEL GTLRPPLLQL STLGTAPPTL 100
    ALHYHPHPFL NSVYIGPAGP FSIFPSSRLK RRPSHCELDL AEGHQPQKVA 150
    RRVFTNSRER WRQQNVNGAF AELRKLLPTH PPDRKLSKNE VLRLAMKYIG 200
    FLVRLLRDQA AALAAGPTPP GPRKRPVHRV PDDGARRGSG RRAEAAARSQ 250
    PAPPADPDGS PGGAARPIKM EQTALSPEVR 280
    Length:280
    Mass (Da):29,938
    Last modified:April 14, 2009 - v3
    Checksum:i4A9D795FF74C59F8
    GO

    Sequence cautioni

    The sequence AAA88084.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAA88085.1 differs from that shown. Reason: Erroneous initiation.
    The sequence AAA92488.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti235 – 2351A → P in AAA88084. (PubMed:2752424)Curated
    Sequence conflicti235 – 2351A → P in AAA88085. (PubMed:2752424)Curated
    Sequence conflicti235 – 2351A → P in AAA92488. (PubMed:2752424)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M22637 mRNA. Translation: AAA88084.1. Different initiation.
    M22637 mRNA. Translation: AAA88085.1. Different initiation.
    M22638 Genomic DNA. Translation: AAA92488.1. Different initiation.
    AC005546 Genomic DNA. Translation: AAC33149.1.
    AC007787 Genomic DNA. No translation available.
    BC002796 mRNA. Translation: AAH02796.2.
    CCDSiCCDS12292.1.
    PIRiA30988.
    RefSeqiNP_005574.2. NM_005583.4.
    UniGeneiHs.46446.
    Hs.728534.

    Genome annotation databases

    EnsembliENST00000264824; ENSP00000264824; ENSG00000104903.
    GeneIDi4066.
    KEGGihsa:4066.
    UCSCiuc002mwi.3. human.

    Polymorphism databases

    DMDMi226694149.

    Keywords - Coding sequence diversityi

    Chromosomal rearrangement

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M22637 mRNA. Translation: AAA88084.1 . Different initiation.
    M22637 mRNA. Translation: AAA88085.1 . Different initiation.
    M22638 Genomic DNA. Translation: AAA92488.1 . Different initiation.
    AC005546 Genomic DNA. Translation: AAC33149.1 .
    AC007787 Genomic DNA. No translation available.
    BC002796 mRNA. Translation: AAH02796.2 .
    CCDSi CCDS12292.1.
    PIRi A30988.
    RefSeqi NP_005574.2. NM_005583.4.
    UniGenei Hs.46446.
    Hs.728534.

    3D structure databases

    ProteinModelPortali P12980.
    SMRi P12980. Positions 148-209.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110244. 8 interactions.
    DIPi DIP-40885N.
    IntActi P12980. 1 interaction.
    MINTi MINT-85715.
    STRINGi 9606.ENSP00000264824.

    PTM databases

    PhosphoSitei P12980.

    Polymorphism databases

    DMDMi 226694149.

    Proteomic databases

    PaxDbi P12980.
    PRIDEi P12980.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264824 ; ENSP00000264824 ; ENSG00000104903 .
    GeneIDi 4066.
    KEGGi hsa:4066.
    UCSCi uc002mwi.3. human.

    Organism-specific databases

    CTDi 4066.
    GeneCardsi GC19M013209.
    H-InvDB HIX0014818.
    HGNCi HGNC:6734. LYL1.
    MIMi 151440. gene+phenotype.
    neXtProti NX_P12980.
    PharmGKBi PA30497.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG307510.
    HOGENOMi HOG000113414.
    HOVERGENi HBG094957.
    InParanoidi P12980.
    KOi K15604.
    OMAi IKMEQTA.
    OrthoDBi EOG7SN8DF.
    PhylomeDBi P12980.
    TreeFami TF315153.

    Miscellaneous databases

    GeneWikii LYL1.
    GenomeRNAii 4066.
    NextBioi 15940.
    PROi P12980.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P12980.
    Bgeei P12980.
    CleanExi HS_LYL1.
    Genevestigatori P12980.

    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. "lyl-1, a novel gene altered by chromosomal translocation in T cell leukemia, codes for a protein with a helix-loop-helix DNA binding motif."
      Mellentin J.D., Smith S.D., Cleary M.L.
      Cell 58:77-83(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    2. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [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].
      Tissue: Lymph.

    Entry informationi

    Entry nameiLYL1_HUMAN
    AccessioniPrimary (citable) accession number: P12980
    Secondary accession number(s): O76102
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 1, 1990
    Last sequence update: April 14, 2009
    Last modified: October 1, 2014
    This is version 147 of the entry and version 3 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 19
      Human chromosome 19: 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