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P56915

- GSC_HUMAN

UniProt

P56915 - GSC_HUMAN

Protein

Homeobox protein goosecoid

Gene

GSC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (15 Mar 2005)
      Previous versions | rss
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    Functioni

    Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring By similarity. Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals.By similarity1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi160 – 21960HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II repressing transcription factor binding Source: BHF-UCL
    2. RNA polymerase II transcription factor binding Source: BHF-UCL
    3. sequence-specific DNA binding Source: InterPro
    4. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. dorsal/ventral neural tube patterning Source: Ensembl
    2. embryonic skeletal system morphogenesis Source: Ensembl
    3. forebrain development Source: Ensembl
    4. gastrulation Source: UniProtKB
    5. middle ear morphogenesis Source: UniProtKB
    6. muscle organ morphogenesis Source: Ensembl
    7. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    8. negative regulation of Wnt signaling pathway Source: Ensembl
    9. neural crest cell fate specification Source: UniProtKB
    10. signal transduction involved in regulation of gene expression Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein goosecoid
    Gene namesi
    Name:GSC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:4612. GSC.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS) [MIM:602471]: An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Dwarfism

    Organism-specific databases

    MIMi602471. phenotype.
    PharmGKBiPA29004.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 257257Homeobox protein goosecoidPRO_0000048885Add
    BLAST

    Proteomic databases

    PaxDbiP56915.
    PRIDEiP56915.

    PTM databases

    PhosphoSiteiP56915.

    Expressioni

    Gene expression databases

    BgeeiP56915.
    CleanExiHS_GSC.
    GenevestigatoriP56915.

    Interactioni

    Protein-protein interaction databases

    BioGridi126899. 1 interaction.
    STRINGi9606.ENSP00000238558.

    Structurei

    Secondary structure

    1
    257
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi169 – 18113
    Helixi187 – 19610
    Helixi201 – 21717

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2DMUNMR-A161-217[»]
    ProteinModelPortaliP56915.
    SMRiP56915. Positions 161-222.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP56915.

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG247162.
    HOGENOMiHOG000112823.
    HOVERGENiHBG005921.
    InParanoidiP56915.
    KOiK09324.
    OMAiPVGPSCC.
    OrthoDBiEOG78SQKS.
    PhylomeDBiP56915.
    TreeFamiTF351613.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    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.

    P56915-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPASMFSIDN ILAARPRCKD SVLPVAHSAA APVVFPALHG DSLYGASGGA    50
    SSDYGAFYPR PVAPGGAGLP AAVSGSRLGY NNYFYGQLHV QAAPVGPACC 100
    GAVPPLGAQQ CSCVPTPPGY EGPGSVLVSP VPHQMLPYMN VGTLSRTELQ 150
    LLNQLHCRRK RRHRTIFTDE QLEALENLFQ ETKYPDVGTR EQLARKVHLR 200
    EEKVEVWFKN RRAKWRRQKR SSSEESENAE KWNKTSSSKA SPEKREEEGK 250
    SDLDSDS 257
    Length:257
    Mass (Da):28,150
    Last modified:March 15, 2005 - v2
    Checksum:iBA2A56144F921407
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti26 – 283AHS → RT(PubMed:7916327)Curated
    Sequence conflicti45 – 473Missing(PubMed:7916327)Curated
    Sequence conflicti65 – 651Missing(PubMed:7916327)Curated
    Sequence conflicti74 – 741S → T(PubMed:7916327)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY177407 mRNA. Translation: AAO18645.1.
    BC063580 mRNA. Translation: AAH63580.1.
    CCDSiCCDS9930.1.
    PIRiA54677.
    RefSeqiNP_776248.1. NM_173849.2.
    UniGeneiHs.440438.

    Genome annotation databases

    EnsembliENST00000238558; ENSP00000238558; ENSG00000133937.
    GeneIDi145258.
    KEGGihsa:145258.
    UCSCiuc001ydu.3. human.

    Polymorphism databases

    DMDMi61252078.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY177407 mRNA. Translation: AAO18645.1 .
    BC063580 mRNA. Translation: AAH63580.1 .
    CCDSi CCDS9930.1.
    PIRi A54677.
    RefSeqi NP_776248.1. NM_173849.2.
    UniGenei Hs.440438.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2DMU NMR - A 161-217 [» ]
    ProteinModelPortali P56915.
    SMRi P56915. Positions 161-222.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126899. 1 interaction.
    STRINGi 9606.ENSP00000238558.

    PTM databases

    PhosphoSitei P56915.

    Polymorphism databases

    DMDMi 61252078.

    Proteomic databases

    PaxDbi P56915.
    PRIDEi P56915.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000238558 ; ENSP00000238558 ; ENSG00000133937 .
    GeneIDi 145258.
    KEGGi hsa:145258.
    UCSCi uc001ydu.3. human.

    Organism-specific databases

    CTDi 145258.
    GeneCardsi GC14M095234.
    HGNCi HGNC:4612. GSC.
    MIMi 138890. gene.
    602471. phenotype.
    neXtProti NX_P56915.
    PharmGKBi PA29004.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG247162.
    HOGENOMi HOG000112823.
    HOVERGENi HBG005921.
    InParanoidi P56915.
    KOi K09324.
    OMAi PVGPSCC.
    OrthoDBi EOG78SQKS.
    PhylomeDBi P56915.
    TreeFami TF351613.

    Miscellaneous databases

    EvolutionaryTracei P56915.
    GeneWikii GSC_(gene).
    GenomeRNAii 145258.
    NextBioi 85059.
    PROi P56915.
    SOURCEi Search...

    Gene expression databases

    Bgeei P56915.
    CleanExi HS_GSC.
    Genevestigatori P56915.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    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. "Molecular cloning of the human homeobox gene goosecoid (GSC) and mapping of the gene to human chromosome 14q32.1."
      Blum M., De Robertis E.M., Kojis T., Heinzmann C., Klisak I., Geissert D., Sparkes R.S.
      Genomics 21:388-393(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Leukocyte.
    2. "Cloning and expression pattern, DNA binding study of two novel human Hox genes."
      Guo J.H., Chen S., Chen L., Yu L.
      Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Testis.
    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: Bone.
    4. "SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid."
      Parry D.A., Logan C.V., Stegmann A.P., Abdelhamed Z.A., Calder A., Khan S., Bonthron D.T., Clowes V., Sheridan E., Ghali N., Chudley A.E., Dobbie A., Stumpel C.T., Johnson C.A.
      Am. J. Hum. Genet. 93:1135-1142(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INVOLVEMENT IN SAMS.
    5. "Solution structure of the homeobox domain of homeobox protein goosecoid."
      RIKEN structural genomics initiative (RSGI)
      Submitted (OCT-2006) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 161-217.

    Entry informationi

    Entry nameiGSC_HUMAN
    AccessioniPrimary (citable) accession number: P56915
    Secondary accession number(s): Q86YR1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: March 15, 2005
    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 14
      Human chromosome 14: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3