GSX1_HUMAN
ID GSX1_HUMAN Reviewed; 264 AA.
AC Q9H4S2; Q9UD62;
DT 27-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=GS homeobox 1;
DE AltName: Full=Homeobox protein GSH-1;
GN Name=GSX1; Synonyms=GSH1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
RX PubMed=11731616; DOI=10.1210/mend.15.12.0747;
RA Mutsuga N., Iwasaki Y., Morishita M., Nomura A., Yamamori E., Yoshida M.,
RA Asai M., Ozaki N., Kambe F., Seo H., Oiso Y., Saito H.;
RT "Homeobox protein Gsh-1-dependent regulation of the rat GHRH gene
RT promoter.";
RL Mol. Endocrinol. 15:2149-2156(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 155-193.
RC TISSUE=Bone marrow;
RX PubMed=7518789; DOI=10.1016/0378-1119(94)90380-8;
RA Moretti P., Simmons P., Thomas P., Haylock D., Rathjen P., Vadas M.,
RA D'Andrea R.;
RT "Identification of homeobox genes expressed in human haemopoietic
RT progenitor cells.";
RL Gene 144:213-219(1994).
CC -!- FUNCTION: Probable transcription factor that binds to the DNA sequence
CC 5'-GC[TA][AC]ATTA[GA]-3'. Activates the transcription of the GHRH gene.
CC Plays an important role in pituitary development.
CC -!- INTERACTION:
CC Q9H4S2; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-18011701, EBI-10241353;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- SIMILARITY: Belongs to the Antp homeobox family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AB044157; BAB78692.1; -; mRNA.
DR EMBL; AB044158; BAB78693.1; -; Genomic_DNA.
DR EMBL; AL390738; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS9326.1; -.
DR RefSeq; NP_663632.1; NM_145657.2.
DR AlphaFoldDB; Q9H4S2; -.
DR SMR; Q9H4S2; -.
DR BioGRID; 128527; 52.
DR IntAct; Q9H4S2; 1.
DR STRING; 9606.ENSP00000304331; -.
DR GlyGen; Q9H4S2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9H4S2; -.
DR PhosphoSitePlus; Q9H4S2; -.
DR BioMuta; GSX1; -.
DR DMDM; 27923786; -.
DR MassIVE; Q9H4S2; -.
DR PaxDb; Q9H4S2; -.
DR PeptideAtlas; Q9H4S2; -.
DR PRIDE; Q9H4S2; -.
DR Antibodypedia; 22686; 75 antibodies from 17 providers.
DR DNASU; 219409; -.
DR Ensembl; ENST00000302945.3; ENSP00000304331.2; ENSG00000169840.5.
DR GeneID; 219409; -.
DR KEGG; hsa:219409; -.
DR MANE-Select; ENST00000302945.3; ENSP00000304331.2; NM_145657.3; NP_663632.1.
DR UCSC; uc001urr.2; human.
DR CTD; 219409; -.
DR GeneCards; GSX1; -.
DR HGNC; HGNC:20374; GSX1.
DR HPA; ENSG00000169840; Tissue enriched (brain).
DR MIM; 616542; gene.
DR neXtProt; NX_Q9H4S2; -.
DR OpenTargets; ENSG00000169840; -.
DR PharmGKB; PA162390373; -.
DR VEuPathDB; HostDB:ENSG00000169840; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000154361; -.
DR HOGENOM; CLU_077153_0_0_1; -.
DR InParanoid; Q9H4S2; -.
DR OMA; GACHSRK; -.
DR OrthoDB; 1341872at2759; -.
DR PhylomeDB; Q9H4S2; -.
DR TreeFam; TF315938; -.
DR PathwayCommons; Q9H4S2; -.
DR SignaLink; Q9H4S2; -.
DR BioGRID-ORCS; 219409; 11 hits in 1085 CRISPR screens.
DR GenomeRNAi; 219409; -.
DR Pharos; Q9H4S2; Tbio.
DR PRO; PR:Q9H4S2; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q9H4S2; protein.
DR Bgee; ENSG00000169840; Expressed in hypothalamus and 11 other tissues.
DR Genevisible; Q9H4S2; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0021984; P:adenohypophysis development; IEA:Ensembl.
DR GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
DR GO; GO:0021854; P:hypothalamus development; IEA:Ensembl.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0048663; P:neuron fate commitment; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0021527; P:spinal cord association neuron differentiation; IEA:Ensembl.
DR GO; GO:0006366; P:transcription by RNA polymerase II; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
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 Activator; Developmental protein; DNA-binding; Homeobox; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..264
FT /note="GS homeobox 1"
FT /id="PRO_0000048894"
FT DNA_BIND 147..206
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..20
FT /note="SNAG domain"
FT /evidence="ECO:0000250"
FT REGION 201..264
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 237..252
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 264 AA; 27883 MW; 25F4C4336E270C00 CRC64;
MPRSFLVDSL VLREAGEKKA PEGSPPPLFP YAVPPPHALH GLSPGACHAR KAGLLCVCPL
CVTASQLHGP PGPPALPLLK ASFPPFGSQY CHAPLGRQHS AVSPGVAHGP AAAAAAAALY
QTSYPLPDPR QFHCISVDSS SNQLPSSKRM RTAFTSTQLL ELEREFASNM YLSRLRRIEI
ATYLNLSEKQ VKIWFQNRRV KHKKEGKGSN HRGGGGGGAG GGGSAPQGCK CASLSSAKCS
EDDDELPMSP SSSGKDDRDL TVTP
