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Protein

Homeobox protein goosecoid

Gene

GSC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi160 – 219HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding

Enzyme and pathway databases

SIGNORiP56915

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein goosecoid
Gene namesi
Name:GSC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000133937.4
HGNCiHGNC:4612 GSC
MIMi138890 gene
neXtProtiNX_P56915

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

DisGeNETi145258
MalaCardsiGSC
MIMi602471 phenotype
OpenTargetsiENSG00000133937
Orphaneti397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
PharmGKBiPA29004

Polymorphism and mutation databases

BioMutaiGSC
DMDMi61252078

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000488851 – 257Homeobox protein goosecoidAdd BLAST257

Proteomic databases

PaxDbiP56915
PRIDEiP56915

PTM databases

iPTMnetiP56915
PhosphoSitePlusiP56915

Expressioni

Gene expression databases

BgeeiENSG00000133937
CleanExiHS_GSC
GenevisibleiP56915 HS

Organism-specific databases

HPAiHPA075650

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi1268994 interactors.
ELMiP56915
STRINGi9606.ENSP00000238558

Structurei

Secondary structure

1257
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi169 – 181Combined sources13
Helixi187 – 196Combined sources10
Helixi201 – 217Combined sources17

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiP56915

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00900000140776
HOGENOMiHOG000112823
HOVERGENiHBG005921
InParanoidiP56915
KOiK09324
OMAiPVGPSCC
OrthoDBiEOG091G0OQ6
PhylomeDBiP56915
TreeFamiTF351613

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti26 – 28AHS → RT (PubMed:7916327).Curated3
Sequence conflicti45 – 47Missing (PubMed:7916327).Curated3
Sequence conflicti65Missing (PubMed:7916327).Curated1
Sequence conflicti74S → T (PubMed:7916327).Curated1

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.4 human

Similar proteinsi

Entry informationi

Entry nameiGSC_HUMAN
AccessioniPrimary (citable) accession number: P56915
Secondary accession number(s): Q86YR1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: March 15, 2005
Last modified: March 28, 2018
This is version 143 of the entry and version 2 of the sequence. See 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