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Q9HBU1

- BARX1_HUMAN

UniProt

Q9HBU1 - BARX1_HUMAN

Protein

Homeobox protein BarH-like 1

Gene

BARX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 2 (22 Jul 2008)
      Previous versions | rss
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    Functioni

    Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity By similarity. Binds to a regulatory module of the NCAM promoter.By similarity1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi142 – 20160HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    2. transcription regulatory region sequence-specific DNA binding Source: InterPro

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. cell-cell signaling Source: Ensembl
    3. digestive system development Source: Ensembl
    4. epithelial cell differentiation Source: Ensembl
    5. negative regulation of Wnt signaling pathway Source: Ensembl
    6. spleen development Source: Ensembl
    7. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein BarH-like 1
    Gene namesi
    Name:BARX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:955. BARX1.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25259.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 254254Homeobox protein BarH-like 1PRO_0000048834Add
    BLAST

    Proteomic databases

    MaxQBiQ9HBU1.
    PaxDbiQ9HBU1.
    PRIDEiQ9HBU1.

    PTM databases

    PhosphoSiteiQ9HBU1.

    Expressioni

    Tissue specificityi

    Widely expressed. Expressed at higher levels in testis and heart. Detected in craniofacial tissue and adult iris, but not in lymphocytes, fibroblasts, choroid retina, retinal pigment epithelium, kidney, or fetal liver.

    Gene expression databases

    BgeeiQ9HBU1.
    CleanExiHS_BARX1.
    GenevestigatoriQ9HBU1.

    Interactioni

    Protein-protein interaction databases

    BioGridi121031. 5 interactions.
    IntActiQ9HBU1. 4 interactions.
    MINTiMINT-6782029.
    STRINGi9606.ENSP00000253968.

    Structurei

    Secondary structure

    1
    254
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi151 – 16313
    Helixi169 – 17911
    Helixi183 – 19715

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2DMTNMR-A133-199[»]
    ProteinModelPortaliQ9HBU1.
    SMRiQ9HBU1. Positions 134-199.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9HBU1.

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi44 – 5310Poly-Ala

    Sequence similaritiesi

    Belongs to the BAR homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG286750.
    HOGENOMiHOG000231924.
    HOVERGENiHBG050665.
    InParanoidiQ9HBU1.
    KOiK09361.
    OMAiGEPGTKA.
    OrthoDBiEOG71G9VZ.
    PhylomeDBiQ9HBU1.
    TreeFamiTF350735.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    PR00031. HTHREPRESSR.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HBU1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MQRPGEPGAA RFGPPEGCAD HRPHRYRSFM IEEILTEPPG PKGAAPAAAA    50
    AAAGELLKFG VQALLAARPF HSHLAVLKAE QAAVFKFPLA PLGCSGLSSA 100
    LLAAGPGLPG AAGAPHLPLE LQLRGKLEAA GPGEPGTKAK KGRRSRTVFT 150
    ELQLMGLEKR FEKQKYLSTP DRIDLAESLG LSQLQVKTWY QNRRMKWKKI 200
    VLQGGGLESP TKPKGRPKKN SIPTSEQLTE QERAKDAEKP AEVPGEPSDR 250
    SRED 254
    Length:254
    Mass (Da):27,298
    Last modified:July 22, 2008 - v2
    Checksum:i772C7C12F765C684
    GO
    Isoform 2 (identifier: Q9HBU1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-154: Missing.

    Show »
    Length:100
    Mass (Da):11,481
    Checksum:i9F56D9D47A57C69C
    GO

    Sequence cautioni

    The sequence AAG23738.1 differs from that shown. Reason: Frameshift at several positions.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti8 – 81G → A in AAG23738. (PubMed:10995576)Curated
    Sequence conflicti14 – 141P → A in AAG23738. (PubMed:10995576)Curated
    Sequence conflicti24 – 241H → Q in AAG23738. (PubMed:10995576)Curated
    Sequence conflicti122 – 1232QL → HV in AAG23738. (PubMed:10995576)Curated

    Polymorphismi

    The polymorphism is not associated with Axenfeld-Reiger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS) or related ocular malformations.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti48 – 481A → T.1 Publication
    Corresponds to variant rs191789925 [ dbSNP | Ensembl ].
    VAR_010927

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 154154Missing in isoform 2. 1 PublicationVSP_034700Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF213356 mRNA. Translation: AAG23738.1. Frameshift.
    AL357073 Genomic DNA. Translation: CAQ06883.1.
    AL357073 Genomic DNA. Translation: CAQ06884.1.
    CH471089 Genomic DNA. Translation: EAW62873.1.
    BC009458 mRNA. Translation: AAH09458.1.
    BC064363 mRNA. Translation: AAH64363.1.
    CCDSiCCDS35070.2. [Q9HBU1-1]
    RefSeqiNP_067545.3. NM_021570.3. [Q9HBU1-1]
    UniGeneiHs.164960.

    Genome annotation databases

    EnsembliENST00000253968; ENSP00000253968; ENSG00000131668. [Q9HBU1-1]
    ENST00000401724; ENSP00000385613; ENSG00000131668. [Q9HBU1-2]
    GeneIDi56033.
    KEGGihsa:56033.
    UCSCiuc004aud.3. human. [Q9HBU1-2]
    uc010mrh.3. human. [Q9HBU1-1]

    Polymorphism databases

    DMDMi205830909.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF213356 mRNA. Translation: AAG23738.1 . Frameshift.
    AL357073 Genomic DNA. Translation: CAQ06883.1 .
    AL357073 Genomic DNA. Translation: CAQ06884.1 .
    CH471089 Genomic DNA. Translation: EAW62873.1 .
    BC009458 mRNA. Translation: AAH09458.1 .
    BC064363 mRNA. Translation: AAH64363.1 .
    CCDSi CCDS35070.2. [Q9HBU1-1 ]
    RefSeqi NP_067545.3. NM_021570.3. [Q9HBU1-1 ]
    UniGenei Hs.164960.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2DMT NMR - A 133-199 [» ]
    ProteinModelPortali Q9HBU1.
    SMRi Q9HBU1. Positions 134-199.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121031. 5 interactions.
    IntActi Q9HBU1. 4 interactions.
    MINTi MINT-6782029.
    STRINGi 9606.ENSP00000253968.

    PTM databases

    PhosphoSitei Q9HBU1.

    Polymorphism databases

    DMDMi 205830909.

    Proteomic databases

    MaxQBi Q9HBU1.
    PaxDbi Q9HBU1.
    PRIDEi Q9HBU1.

    Protocols and materials databases

    DNASUi 56033.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000253968 ; ENSP00000253968 ; ENSG00000131668 . [Q9HBU1-1 ]
    ENST00000401724 ; ENSP00000385613 ; ENSG00000131668 . [Q9HBU1-2 ]
    GeneIDi 56033.
    KEGGi hsa:56033.
    UCSCi uc004aud.3. human. [Q9HBU1-2 ]
    uc010mrh.3. human. [Q9HBU1-1 ]

    Organism-specific databases

    CTDi 56033.
    GeneCardsi GC09M096713.
    HGNCi HGNC:955. BARX1.
    MIMi 603260. gene.
    neXtProti NX_Q9HBU1.
    PharmGKBi PA25259.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG286750.
    HOGENOMi HOG000231924.
    HOVERGENi HBG050665.
    InParanoidi Q9HBU1.
    KOi K09361.
    OMAi GEPGTKA.
    OrthoDBi EOG71G9VZ.
    PhylomeDBi Q9HBU1.
    TreeFami TF350735.

    Miscellaneous databases

    EvolutionaryTracei Q9HBU1.
    GenomeRNAii 56033.
    NextBioi 61467.
    PROi Q9HBU1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9HBU1.
    CleanExi HS_BARX1.
    Genevestigatori Q9HBU1.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    PR00031. HTHREPRESSR.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning, characterization, localization, and mutational screening of the human BARX1 gene."
      Gould D.B., Walter M.A.
      Genomics 68:336-342(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-48.
      Tissue: Craniofacial.
    2. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORMS 1 AND 2).
      Tissue: Lung and Uterus.
    5. "Transformation of tooth type induced by inhibition of BMP signaling."
      Tucker A.S., Matthews K.L., Sharpe P.T.
      Science 282:1136-1138(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    6. "Solution structure of the homeobox domain of homeobox protein BarH-like 1."
      RIKEN structural genomics initiative (RSGI)
      Submitted (OCT-2006) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 132-199.

    Entry informationi

    Entry nameiBARX1_HUMAN
    AccessioniPrimary (citable) accession number: Q9HBU1
    Secondary accession number(s): Q6P2R4, Q96GH8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 2001
    Last sequence update: July 22, 2008
    Last modified: October 1, 2014
    This is version 119 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3