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Q7RTU4

- BHA09_HUMAN

UniProt

Q7RTU4 - BHA09_HUMAN

Protein

Class A basic helix-loop-helix protein 9

Gene

BHLHA9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Protein inferred from homologyi
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    • History
      Entry version 76 (01 Oct 2014)
      Sequence version 2 (10 Jun 2008)
      Previous versions | rss
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    Functioni

    Putative transcription factor, which may play a role in limb development.1 Publication

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. multicellular organismal development Source: UniProtKB-KW
    2. regulation of transcription, DNA-templated Source: UniProtKB-KW
    3. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Class A basic helix-loop-helix protein 9
    Short name:
    bHLHa9
    Alternative name(s):
    Class F basic helix-loop-helix factor 42
    Short name:
    bHLHf42
    Gene namesi
    Name:BHLHA9
    Synonyms:BHLHF42
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:35126. BHLHA9.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Split-hand/foot malformation with long bone deficiency 3 (SHFLD3) [MIM:612576]: A disease characterized by the association of split-hand/foot malformation with long bone deficiency involving the tibia and fibula. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod. Phenotypic expression is extremely variable between and within families, and even between limbs of a single patient, ranging from syndactyly and oligodactyly to the most severe monodactyly with only a single phalanx. Limb features include median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals.1 Publication
    Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry. A copy number variation (CNV) resulting in BHLHA9 duplications is a necessary but not sufficient susceptibility factor for Split-hand/foot malformation with long bone deficiency, a highly variable phenotype with reduced penetrance, particularly in females (PubMed:22147889).1 Publication

    Organism-specific databases

    MIMi612576. phenotype.
    Orphaneti3329. Tibial aplasia - ectrodactyly.
    PharmGKBiPA164716602.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 235235Class A basic helix-loop-helix protein 9PRO_0000341377Add
    BLAST

    Proteomic databases

    PaxDbiQ7RTU4.
    PRIDEiQ7RTU4.

    PTM databases

    PhosphoSiteiQ7RTU4.

    Expressioni

    Gene expression databases

    BgeeiQ7RTU4.
    GenevestigatoriQ7RTU4.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7RTU4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini65 – 11753bHLHPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi152 – 22069Pro-richAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG82328.
    HOGENOMiHOG000095226.
    InParanoidiQ7RTU4.
    OMAiIHRITAL.
    OrthoDBiEOG7C5M9C.
    PhylomeDBiQ7RTU4.
    TreeFamiTF337642.

    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.

    Q7RTU4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLRGAPGLGL TARKGAEDSA EDLGGPCPEP GGDSGVLGAN GASCSRGEAE    50
    EPAGRRRARP VRSKARRMAA NVRERKRILD YNEAFNALRR ALRHDLGGKR 100
    LSKIATLRRA IHRIAALSLV LRASPAPRGP CGHLECHGPA ARGDTGDTGA 150
    SPPPPAGPSL ARPDAARPSV PSAPRCASCP PHAPLARPSA VAEGPGLAQA 200
    SGGSWRRCPG ASSAGPPPWP RGYLRSAPGM GHPRS 235
    Length:235
    Mass (Da):24,132
    Last modified:June 10, 2008 - v2
    Checksum:i1A4F0FD0E12F6E33
    GO

    Sequence cautioni

    The sequence DAA00302.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC032044 Genomic DNA. No translation available.
    BK000140 Genomic DNA. Translation: DAA00302.1. Different initiation.
    CCDSiCCDS45560.1.
    RefSeqiNP_001157877.1. NM_001164405.1.
    UniGeneiHs.723790.

    Genome annotation databases

    EnsembliENST00000391429; ENSP00000375248; ENSG00000205899.
    GeneIDi727857.
    KEGGihsa:727857.
    UCSCiuc021tnd.1. human.

    Polymorphism databases

    DMDMi190358730.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC032044 Genomic DNA. No translation available.
    BK000140 Genomic DNA. Translation: DAA00302.1 . Different initiation.
    CCDSi CCDS45560.1.
    RefSeqi NP_001157877.1. NM_001164405.1.
    UniGenei Hs.723790.

    3D structure databases

    ProteinModelPortali Q7RTU4.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q7RTU4.

    Polymorphism databases

    DMDMi 190358730.

    Proteomic databases

    PaxDbi Q7RTU4.
    PRIDEi Q7RTU4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000391429 ; ENSP00000375248 ; ENSG00000205899 .
    GeneIDi 727857.
    KEGGi hsa:727857.
    UCSCi uc021tnd.1. human.

    Organism-specific databases

    CTDi 727857.
    GeneCardsi GC17P001175.
    HGNCi HGNC:35126. BHLHA9.
    MIMi 612576. phenotype.
    615416. gene.
    neXtProti NX_Q7RTU4.
    Orphaneti 3329. Tibial aplasia - ectrodactyly.
    PharmGKBi PA164716602.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG82328.
    HOGENOMi HOG000095226.
    InParanoidi Q7RTU4.
    OMAi IHRITAL.
    OrthoDBi EOG7C5M9C.
    PhylomeDBi Q7RTU4.
    TreeFami TF337642.

    Miscellaneous databases

    GeneWikii BHLHA9.
    GenomeRNAii 727857.
    NextBioi 125337.
    PROi Q7RTU4.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q7RTU4.
    Genevestigatori Q7RTU4.

    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. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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.
    3. Cited for: FUNCTION, INVOLVEMENT IN SHFLD3.

    Entry informationi

    Entry nameiBHA09_HUMAN
    AccessioniPrimary (citable) accession number: Q7RTU4
    Secondary accession number(s): A8MSH6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 10, 2008
    Last sequence update: June 10, 2008
    Last modified: October 1, 2014
    This is version 76 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 17
      Human chromosome 17: 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