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Q14549

- GBX1_HUMAN

UniProt

Q14549 - GBX1_HUMAN

Protein

Homeobox protein GBX-1

Gene

GBX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (03 Oct 2006)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi261 – 32060HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. adult walking behavior Source: Ensembl
    2. proprioception Source: Ensembl
    3. sensory neuron axon guidance Source: Ensembl
    4. spinal cord motor neuron differentiation Source: Ensembl
    5. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein GBX-1
    Alternative name(s):
    Gastrulation and brain-specific homeobox protein 1
    Gene namesi
    Name:GBX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:4185. GBX1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28599.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 363363Homeobox protein GBX-1PRO_0000048878Add
    BLAST

    Proteomic databases

    PaxDbiQ14549.
    PRIDEiQ14549.

    PTM databases

    PhosphoSiteiQ14549.

    Expressioni

    Gene expression databases

    BgeeiQ14549.
    CleanExiHS_GBX1.
    GenevestigatoriQ14549.

    Organism-specific databases

    HPAiHPA055783.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000297537.

    Structurei

    Secondary structure

    1
    363
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi264 – 2685
    Helixi270 – 28213
    Helixi288 – 29710
    Helixi302 – 32019

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2M34NMR-A256-325[»]
    2ME0NMR-A256-325[»]
    2ME6NMR-A256-325[»]
    ProteinModelPortaliQ14549.
    SMRiQ14549. Positions 255-325.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi5 – 2218Gly-richAdd
    BLAST
    Compositional biasi33 – 179147Pro-richAdd
    BLAST
    Compositional biasi60 – 13374Ala-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG315879.
    HOGENOMiHOG000060099.
    HOVERGENiHBG003967.
    InParanoidiQ14549.
    KOiK09321.
    OMAiRARSEPC.
    OrthoDBiEOG7D2FDK.
    PhylomeDBiQ14549.
    TreeFamiTF351530.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

    Q14549-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQRAGGGSAP GGNGGGGGGG PGTAFSIDSL IGPPPPRSGH LLYTGYPMFM    50
    PYRPLVLPQA LAPAPLPAGL PPLAPLASFA GRLTNTFCAG LGQAVPSMVA 100
    LTTALPSFAE PPDAFYGPQE LAAAAAAAAA TAARNNPEPG GRRPEGGLEA 150
    DELLPAREKV AEPPPPPPPH FSETFPSLPA EGKVYSSDEE KLEASAGDPA 200
    GSEQEEEGSG GDSEDDGFLD SSAGGPGALL GPKPKLKGSL GTGAEEGAPV 250
    TAGVTAPGGK SRRRRTAFTS EQLLELEKEF HCKKYLSLTE RSQIAHALKL 300
    SEVQVKIWFQ NRRAKWKRIK AGNVSSRSGE PVRNPKIVVP IPVHVNRFAV 350
    RSQHQQMEQG ARP 363
    Length:363
    Mass (Da):37,629
    Last modified:October 3, 2006 - v2
    Checksum:i738A37958DBD2E43
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti194 – 1941A → T.
    Corresponds to variant rs11975799 [ dbSNP | Ensembl ].
    VAR_049579

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC010973 Genomic DNA. No translation available.
    L11239 Genomic DNA. Translation: AAA36002.1.
    CCDSiCCDS43682.1.
    PIRiS32510.
    RefSeqiNP_001092304.1. NM_001098834.2.

    Genome annotation databases

    EnsembliENST00000297537; ENSP00000297537; ENSG00000164900.
    GeneIDi2636.
    KEGGihsa:2636.
    UCSCiuc011kvg.2. human.

    Polymorphism databases

    DMDMi115502392.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC010973 Genomic DNA. No translation available.
    L11239 Genomic DNA. Translation: AAA36002.1 .
    CCDSi CCDS43682.1.
    PIRi S32510.
    RefSeqi NP_001092304.1. NM_001098834.2.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2M34 NMR - A 256-325 [» ]
    2ME0 NMR - A 256-325 [» ]
    2ME6 NMR - A 256-325 [» ]
    ProteinModelPortali Q14549.
    SMRi Q14549. Positions 255-325.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000297537.

    PTM databases

    PhosphoSitei Q14549.

    Polymorphism databases

    DMDMi 115502392.

    Proteomic databases

    PaxDbi Q14549.
    PRIDEi Q14549.

    Protocols and materials databases

    DNASUi 2636.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000297537 ; ENSP00000297537 ; ENSG00000164900 .
    GeneIDi 2636.
    KEGGi hsa:2636.
    UCSCi uc011kvg.2. human.

    Organism-specific databases

    CTDi 2636.
    GeneCardsi GC07M150845.
    HGNCi HGNC:4185. GBX1.
    HPAi HPA055783.
    MIMi 603354. gene.
    neXtProti NX_Q14549.
    PharmGKBi PA28599.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG315879.
    HOGENOMi HOG000060099.
    HOVERGENi HBG003967.
    InParanoidi Q14549.
    KOi K09321.
    OMAi RARSEPC.
    OrthoDBi EOG7D2FDK.
    PhylomeDBi Q14549.
    TreeFami TF351530.

    Miscellaneous databases

    GenomeRNAii 2636.
    NextBioi 10392.
    PROi Q14549.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q14549.
    CleanExi HS_GBX1.
    Genevestigatori Q14549.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    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. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Expression of a novel human homeobox-containing gene that maps to chromosome 7q36.1 in hematopoietic cells."
      Matsui T., Hirai M., Wakita M., Hirano M., Kurosawa Y.
      FEBS Lett. 322:181-185(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 225-363.
    3. "NMR structure of the homeodomain transcription factor GBX1 from Homo sapiens."
      Joint center for structural genomics (JCSG)
      Submitted (JAN-2013) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 256-325.

    Entry informationi

    Entry nameiGBX1_HUMAN
    AccessioniPrimary (citable) accession number: Q14549
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: October 3, 2006
    Last modified: October 1, 2014
    This is version 117 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 7
      Human chromosome 7: 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