Gene: Gsc

Basic information

Tag Content
Uniprot ID Q02591
Entrez ID 14836
Genbank protein ID AAA37826.1; CAA73611.1; CAA73612.1;
Genbank nucleotide ID NM_010351.1
Ensembl protein ID ENSMUSP00000021513
Ensembl nucleotide ID ENSMUSG00000021095
Gene name Homeobox protein goosecoid
Gene symbol Gsc
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E12.5, E13.75, E13.5, E14.5, E15.5
Data sources Manually collected
Reference 10512191; 7555726; 7555718;
Functional description Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis (By similarity). 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. Goosecoid-expressing regions of the gastrulating mouse egg cylinder have organizer-like activity when transplanted into Xenopus embryos. Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals (By similarity).
Sequence
MPASMFSIDN ILAARPRCKD AVLPVAPSAA APVVFPALHG DSLYGAGGGT SSDYGAFYPR 60
PVAPGGAGLP AAVGSSRLGY NSYFYGQLHV QAAPVGPACC GAVPPLGAQQ CSCVPTPPGY 120
EGPGSVLVSP VPHQMLPYMN VGTLSRTELQ LLNQLHCRRK RRHRTIFTDE QLEALENLFQ 180
ETKYPDVGTR EQLARKVHLR EEKVEVWFKN RRAKWRRQKR SSSEESENAE KWNKTSSKAS 240
PEKREEEGKS DLDSDS 256

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologGSC514862E1BB15Bos taurusPredictionMore>>
1:1 orthologGSC102185957A0A452FMK4Capra hircusPredictionMore>>
1:1 orthologGSC145258P56915Homo sapiensPredictionMore>>
1:1 orthologGsc14836Q02591CPOE12.5, E13.75, E13.5, E14.5, E15.5Mus musculusPublicationMore>>
1:1 orthologGSC467546A2T733Pan troglodytesPredictionMore>>
1:1 orthologGSC397342F1SCC4Sus scrofaPredictionMore>>
1:1 orthologGsc317715G3V7E7Rattus norvegicusPredictionMore>>
1:1 orthologgscQ7ZZR4Danio rerioPredictionMore>>

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIDA
GO:0001085 RNA polymerase II transcription factor bindingIPI
GO:0001103 RNA polymerase II repressing transcription factor bindingIPI
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specificIDA
GO:0005515 protein bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIGI
GO:0000122 negative regulation of transcription by RNA polymerase IIIDA
GO:0009653 anatomical structure morphogenesisIGI
GO:0014036 neural crest cell fate specificationISS
GO:0014036 neural crest cell fate specificationISO
GO:0021904 dorsal/ventral neural tube patterningIGI
GO:0023019 signal transduction involved in regulation of gene expressionIDA
GO:0030178 negative regulation of Wnt signaling pathwayIMP
GO:0030900 forebrain developmentIGI
GO:0042474 middle ear morphogenesisIMP
GO:0043583 ear developmentIMP
GO:0048644 muscle organ morphogenesisIMP
GO:0048704 embryonic skeletal system morphogenesisIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIEA
GO:0005667 transcription factor complexIDA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0217 Developmental protein
KW-0238 DNA-binding
KW-0371 Homeobox
KW-0539 Nucleus
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom

PROSITE

PROSITE ID PROSITE Term
PS00027 HOMEOBOX_1
PS50071 HOMEOBOX_2

Pfam

Pfam ID Pfam Term
PF00046 Homeodomain

Protein-protein interaction