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Protein

Homeobox protein goosecoid

Gene

GSC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

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

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
Complete GO annotation...

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 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:4612. GSC.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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.

See also OMIM:602471

Keywords - Diseasei

Dwarfism

Organism-specific databases

MIMi602471. phenotype.
Orphaneti397623. Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome.
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 – 18113Combined sources
Helixi187 – 19610Combined sources
Helixi201 – 21717Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00760000118908.
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

        10         20         30         40         50
MPASMFSIDN ILAARPRCKD SVLPVAHSAA APVVFPALHG DSLYGASGGA
60 70 80 90 100
SSDYGAFYPR PVAPGGAGLP AAVSGSRLGY NNYFYGQLHV QAAPVGPACC
110 120 130 140 150
GAVPPLGAQQ CSCVPTPPGY EGPGSVLVSP VPHQMLPYMN VGTLSRTELQ
160 170 180 190 200
LLNQLHCRRK RRHRTIFTDE QLEALENLFQ ETKYPDVGTR EQLARKVHLR
210 220 230 240 250
EEKVEVWFKN RRAKWRRQKR SSSEESENAE KWNKTSSSKA SPEKREEEGK

SDLDSDS
Length:257
Mass (Da):28,150
Last modified:March 14, 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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
Links Updated
AY177407 mRNA. Translation: AAO18645.1.
BC063580 mRNA. Translation: AAH63580.1.
CCDSiCCDS9930.1.
PIRiA54677.
RefSeqiNP_776248.1. NM_173849.2.
UniGeneiHs.440438.

3D structure databases

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

Protein-protein interaction databases

BioGridi126899. 1 interaction.
STRINGi9606.ENSP00000238558.

PTM databases

PhosphoSiteiP56915.

Polymorphism databases

DMDMi61252078.

Proteomic databases

PaxDbiP56915.
PRIDEiP56915.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi145258.
GeneCardsiGC14M095234.
HGNCiHGNC:4612. GSC.
MIMi138890. gene.
602471. phenotype.
neXtProtiNX_P56915.
Orphaneti397623. Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome.
PharmGKBiPA29004.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG247162.
GeneTreeiENSGT00760000118908.
HOGENOMiHOG000112823.
HOVERGENiHBG005921.
InParanoidiP56915.
KOiK09324.
OMAiPVGPSCC.
OrthoDBiEOG78SQKS.
PhylomeDBiP56915.
TreeFamiTF351613.

Miscellaneous databases

EvolutionaryTraceiP56915.
GeneWikiiGSC_(gene).
GenomeRNAii145258.
NextBioi85059.
PROiP56915.
SOURCEiSearch...

Gene expression databases

BgeeiP56915.
CleanExiHS_GSC.
GenevestigatoriP56915.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(1993) [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 (OCT-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(2003) [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(2012) [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 (SEP-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 29, 2000
Last sequence update: March 14, 2005
Last modified: January 6, 2015
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 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.