GSC_MOUSE
ID GSC_MOUSE Reviewed; 256 AA.
AC Q02591;
DT 01-FEB-1994, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1994, sequence version 1.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Homeobox protein goosecoid;
GN Name=Gsc;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=1352187; DOI=10.1016/0092-8674(92)90632-m;
RA Blum M., Gaunt S.J., Cho K.W.Y., Steinbeisser H., Blumberg B.,
RA Bittner D.A., De Robertis E.M.;
RT "Gastrulation in the mouse: the role of the homeobox gene goosecoid.";
RL Cell 69:1097-1106(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC STRAIN=C57BL/6J;
RX PubMed=9417125; DOI=10.1074/jbc.273.1.627;
RA Danilov V., Blum M., Schweickert A., Campione M., Steinbeisser H.;
RT "Negative autoregulation of the organizer-specific homeobox gene
RT goosecoid.";
RL J. Biol. Chem. 273:627-635(1998).
RN [3]
RP FUNCTION.
RX PubMed=14973294; DOI=10.1242/dev.01017;
RA Tucker A.S., Watson R.P., Lettice L.A., Yamada G., Hill R.E.;
RT "Bapx1 regulates patterning in the middle ear: altered regulatory role in
RT the transition from the proximal jaw during vertebrate evolution.";
RL Development 131:1235-1245(2004).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=24290375; DOI=10.1016/j.ajhg.2013.10.027;
RA Parry D.A., Logan C.V., Stegmann A.P., Abdelhamed Z.A., Calder A., Khan S.,
RA Bonthron D.T., Clowes V., Sheridan E., Ghali N., Chudley A.E., Dobbie A.,
RA Stumpel C.T., Johnson C.A.;
RT "SAMS, a syndrome of short stature, auditory-canal atresia, mandibular
RT hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused
RT by mutations in Goosecoid.";
RL Am. J. Hum. Genet. 93:1135-1142(2013).
CC -!- FUNCTION: Regulates chordin (CHRD). May play a role in spatial
CC programing within discrete embryonic fields or lineage compartments
CC during organogenesis (By similarity). In concert with NKX3-2, plays a
CC role in defining the structural components of the middle ear; required
CC for the development of the entire tympanic ring. Goosecoid-expressing
CC regions of the gastrulating mouse egg cylinder have organizer-like
CC activity when transplanted into Xenopus embryos. Probably involved in
CC the regulatory networks that define neural crest cell fate
CC specification and determine mesoderm cell lineages in mammals (By
CC similarity). {ECO:0000250, ECO:0000269|PubMed:14973294}.
CC -!- INTERACTION:
CC Q02591; O88621: Foxh1; NbExp=2; IntAct=EBI-7457485, EBI-7457430;
CC Q02591; O09106: Hdac1; NbExp=2; IntAct=EBI-7457485, EBI-301912;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: In early gastrulation, expressed in the dorsal lip.
CC In later stages of development found in head, limbs and body wall. In
CC the embryo, expressed in the postotic cranial neural crest cells, the
CC frontonasal prominence, the first branchial arch and cleft, and
CC specific regions of large joints. {ECO:0000269|PubMed:24290375}.
CC -!- INDUCTION: By activin.
CC -!- SIMILARITY: Belongs to the paired homeobox family. Bicoid subfamily.
CC {ECO:0000305}.
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DR EMBL; M85271; AAA37826.1; -; Genomic_DNA.
DR EMBL; Y13149; CAA73611.1; -; mRNA.
DR EMBL; Y13150; CAA73612.1; -; mRNA.
DR CCDS; CCDS26153.1; -.
DR PIR; A42768; A42768.
DR RefSeq; NP_034481.1; NM_010351.1.
DR AlphaFoldDB; Q02591; -.
DR SMR; Q02591; -.
DR BioGRID; 200082; 5.
DR IntAct; Q02591; 10.
DR MINT; Q02591; -.
DR STRING; 10090.ENSMUSP00000021513; -.
DR iPTMnet; Q02591; -.
DR PhosphoSitePlus; Q02591; -.
DR PaxDb; Q02591; -.
DR PeptideAtlas; Q02591; -.
DR PRIDE; Q02591; -.
DR Antibodypedia; 27137; 503 antibodies from 32 providers.
DR DNASU; 14836; -.
DR Ensembl; ENSMUST00000021513; ENSMUSP00000021513; ENSMUSG00000021095.
DR GeneID; 14836; -.
DR KEGG; mmu:14836; -.
DR UCSC; uc007oxh.1; mouse.
DR CTD; 145258; -.
DR MGI; MGI:95841; Gsc.
DR VEuPathDB; HostDB:ENSMUSG00000021095; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000160635; -.
DR HOGENOM; CLU_096519_0_0_1; -.
DR InParanoid; Q02591; -.
DR OMA; AGPPCCG; -.
DR OrthoDB; 1270742at2759; -.
DR PhylomeDB; Q02591; -.
DR TreeFam; TF351613; -.
DR BioGRID-ORCS; 14836; 3 hits in 73 CRISPR screens.
DR PRO; PR:Q02591; -.
DR Proteomes; UP000000589; Chromosome 12.
DR RNAct; Q02591; protein.
DR Bgee; ENSMUSG00000021095; Expressed in mandible and 119 other tissues.
DR Genevisible; Q02591; MM.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0005667; C:transcription regulator complex; IDA:MGI.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; IPI:BHF-UCL.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IGI:MGI.
DR GO; GO:0021904; P:dorsal/ventral neural tube patterning; IGI:MGI.
DR GO; GO:0043583; P:ear development; IMP:MGI.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IMP:MGI.
DR GO; GO:0030900; P:forebrain development; IGI:MGI.
DR GO; GO:0042474; P:middle ear morphogenesis; IMP:UniProtKB.
DR GO; GO:0048644; P:muscle organ morphogenesis; IMP:MGI.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0030178; P:negative regulation of Wnt signaling pathway; IMP:MGI.
DR GO; GO:0014036; P:neural crest cell fate specification; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0023019; P:signal transduction involved in regulation of gene expression; IDA:MGI.
DR GO; GO:0016055; P:Wnt signaling pathway; IMP:MGI.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR Pfam; PF00046; Homeodomain; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome.
FT CHAIN 1..256
FT /note="Homeobox protein goosecoid"
FT /id="PRO_0000048886"
FT DNA_BIND 160..219
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 213..256
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 218..256
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 256 AA; 27980 MW; 3639FB059AC3DB9E CRC64;
MPASMFSIDN ILAARPRCKD AVLPVAPSAA APVVFPALHG DSLYGAGGGT SSDYGAFYPR
PVAPGGAGLP AAVGSSRLGY NSYFYGQLHV QAAPVGPACC GAVPPLGAQQ CSCVPTPPGY
EGPGSVLVSP VPHQMLPYMN VGTLSRTELQ LLNQLHCRRK RRHRTIFTDE QLEALENLFQ
ETKYPDVGTR EQLARKVHLR EEKVEVWFKN RRAKWRRQKR SSSEESENAE KWNKTSSKAS
PEKREEEGKS DLDSDS
