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   27-MAR-2024, entry version 165.
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}.
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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   GlyCosmos; Q9H4S2; 1 site, 1 glycan.
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; 9606-ENSP00000304331; -.
DR   PeptideAtlas; Q9H4S2; -.
DR   Antibodypedia; 22686; 84 antibodies from 18 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   AGR; HGNC:20374; -.
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; 728401at2759; -.
DR   PhylomeDB; Q9H4S2; -.
DR   TreeFam; TF315938; -.
DR   PathwayCommons; Q9H4S2; -.
DR   SignaLink; Q9H4S2; -.
DR   BioGRID-ORCS; 219409; 12 hits in 1162 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 cell types or tissues.
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: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   Gene3D; 1.10.10.60; Homeodomain-like; 1.
DR   InterPro; IPR042191; GSH1/2.
DR   InterPro; IPR009057; Homeobox-like_sf.
DR   InterPro; IPR017970; Homeobox_CS.
DR   InterPro; IPR001356; Homeobox_dom.
DR   InterPro; IPR020479; Homeobox_metazoa.
DR   PANTHER; PTHR47421:SF2; GS HOMEOBOX 1; 1.
DR   PANTHER; PTHR47421; GS HOMEOBOX 2; 1.
DR   Pfam; PF00046; Homeodomain; 1.
DR   PRINTS; PR00024; HOMEOBOX.
DR   SMART; SM00389; HOX; 1.
DR   SUPFAM; SSF46689; Homeodomain-like; 1.
DR   PROSITE; PS00027; HOMEOBOX_1; 1.
DR   PROSITE; PS50071; HOMEOBOX_2; 1.
DR   Genevisible; Q9H4S2; HS.
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
//