Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P56915

- GSC_HUMAN

UniProt

P56915 - GSC_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Homeobox protein goosecoid

Gene

GSC

Organism
Homo sapiens (Human)
Status
Reviewed - 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: Chromosome 14

Organism-specific databases

HGNCiHGNC:4612. GSC.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
  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) [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.
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 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:
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 .
CCDSi CCDS9930.1.
PIRi A54677.
RefSeqi NP_776248.1. NM_173849.2.
UniGenei Hs.440438.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
Orphaneti 397623. Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome.
PharmGKBi PA29004.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG247162.
GeneTreei ENSGT00760000118908.
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

« 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(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 29, 2014
This is version 118 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