ID   GBX1_HUMAN              Reviewed;         363 AA.
AC   Q14549;
DT   11-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT   03-OCT-2006, sequence version 2.
DT   24-JAN-2024, entry version 178.
DE   RecName: Full=Homeobox protein GBX-1;
DE   AltName: Full=Gastrulation and brain-specific homeobox protein 1;
GN   Name=GBX1;
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 [LARGE SCALE GENOMIC DNA].
RX   PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA   Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA   Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA   Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA   Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA   Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA   Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA   Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA   Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA   Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA   Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA   Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA   Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA   Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA   Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA   McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA   Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 225-363.
RX   PubMed=8097731; DOI=10.1016/0014-5793(93)81564-g;
RA   Matsui T., Hirai M., Wakita M., Hirano M., Kurosawa Y.;
RT   "Expression of a novel human homeobox-containing gene that maps to
RT   chromosome 7q36.1 in hematopoietic cells.";
RL   FEBS Lett. 322:181-185(1993).
RN   [3]
RP   STRUCTURE BY NMR OF 256-325.
RG   Joint center for structural genomics (JCSG);
RT   "NMR structure of the homeodomain transcription factor GBX1 from Homo
RT   sapiens.";
RL   Submitted (JAN-2013) to the PDB data bank.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
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DR   EMBL; AC010973; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; L11239; AAA36002.1; -; Genomic_DNA.
DR   CCDS; CCDS43682.1; -.
DR   PIR; S32510; S32510.
DR   RefSeq; NP_001092304.1; NM_001098834.2.
DR   PDB; 2M34; NMR; -; A=256-325.
DR   PDB; 2ME0; NMR; -; A=256-325.
DR   PDB; 2ME6; NMR; -; A=256-325.
DR   PDB; 2N8G; NMR; -; A=256-325.
DR   PDBsum; 2M34; -.
DR   PDBsum; 2ME0; -.
DR   PDBsum; 2ME6; -.
DR   PDBsum; 2N8G; -.
DR   AlphaFoldDB; Q14549; -.
DR   BMRB; Q14549; -.
DR   SMR; Q14549; -.
DR   BioGRID; 108906; 27.
DR   STRING; 9606.ENSP00000297537; -.
DR   iPTMnet; Q14549; -.
DR   PhosphoSitePlus; Q14549; -.
DR   BioMuta; GBX1; -.
DR   DMDM; 115502392; -.
DR   MassIVE; Q14549; -.
DR   MaxQB; Q14549; -.
DR   PaxDb; 9606-ENSP00000297537; -.
DR   PeptideAtlas; Q14549; -.
DR   Antibodypedia; 32984; 154 antibodies from 22 providers.
DR   DNASU; 2636; -.
DR   Ensembl; ENST00000297537.5; ENSP00000297537.4; ENSG00000164900.5.
DR   GeneID; 2636; -.
DR   KEGG; hsa:2636; -.
DR   MANE-Select; ENST00000297537.5; ENSP00000297537.4; NM_001098834.3; NP_001092304.1.
DR   UCSC; uc011kvg.3; human.
DR   AGR; HGNC:4185; -.
DR   CTD; 2636; -.
DR   DisGeNET; 2636; -.
DR   GeneCards; GBX1; -.
DR   HGNC; HGNC:4185; GBX1.
DR   HPA; ENSG00000164900; Group enriched (skeletal muscle, testis).
DR   MIM; 603354; gene.
DR   neXtProt; NX_Q14549; -.
DR   OpenTargets; ENSG00000164900; -.
DR   PharmGKB; PA28599; -.
DR   VEuPathDB; HostDB:ENSG00000164900; -.
DR   eggNOG; KOG0489; Eukaryota.
DR   GeneTree; ENSGT00940000154365; -.
DR   HOGENOM; CLU_052189_0_0_1; -.
DR   InParanoid; Q14549; -.
DR   OMA; CGPLSQK; -.
DR   OrthoDB; 728401at2759; -.
DR   PhylomeDB; Q14549; -.
DR   TreeFam; TF351530; -.
DR   PathwayCommons; Q14549; -.
DR   SignaLink; Q14549; -.
DR   BioGRID-ORCS; 2636; 9 hits in 1162 CRISPR screens.
DR   ChiTaRS; GBX1; human.
DR   GenomeRNAi; 2636; -.
DR   Pharos; Q14549; Tbio.
DR   PRO; PR:Q14549; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; Q14549; Protein.
DR   Bgee; ENSG00000164900; Expressed in right testis and 49 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:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR   GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:0007628; P:adult walking behavior; IEA:Ensembl.
DR   GO; GO:0048663; P:neuron fate commitment; IEA:Ensembl.
DR   GO; GO:0019230; P:proprioception; IEA:Ensembl.
DR   GO; GO:0051960; P:regulation of nervous system development; IBA:GO_Central.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   GO; GO:0097374; P:sensory neuron axon guidance; IEA:Ensembl.
DR   GO; GO:0021522; P:spinal cord motor neuron differentiation; IEA:Ensembl.
DR   CDD; cd00086; homeodomain; 1.
DR   Gene3D; 1.10.10.60; Homeodomain-like; 1.
DR   InterPro; IPR042982; GBX-1/2.
DR   InterPro; IPR009057; Homeobox-like_sf.
DR   InterPro; IPR017970; Homeobox_CS.
DR   InterPro; IPR001356; Homeobox_dom.
DR   InterPro; IPR020479; Homeobox_metazoa.
DR   PANTHER; PTHR24334; HOMEOBOX PROTEIN GBX; 1.
DR   PANTHER; PTHR24334:SF2; HOMEOBOX PROTEIN GBX-1; 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; Q14549; HS.
PE   1: Evidence at protein level;
KW   3D-structure; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW   Transcription; Transcription regulation.
FT   CHAIN           1..363
FT                   /note="Homeobox protein GBX-1"
FT                   /id="PRO_0000048878"
FT   DNA_BIND        261..320
FT                   /note="Homeobox"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT   REGION          1..31
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          128..265
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        144..158
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        159..174
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         194
FT                   /note="A -> T (in dbSNP:rs11975799)"
FT                   /id="VAR_049579"
FT   STRAND          264..268
FT                   /evidence="ECO:0007829|PDB:2M34"
FT   HELIX           270..282
FT                   /evidence="ECO:0007829|PDB:2M34"
FT   HELIX           288..297
FT                   /evidence="ECO:0007829|PDB:2M34"
FT   HELIX           302..320
FT                   /evidence="ECO:0007829|PDB:2M34"
SQ   SEQUENCE   363 AA;  37629 MW;  738A37958DBD2E43 CRC64;
     MQRAGGGSAP GGNGGGGGGG PGTAFSIDSL IGPPPPRSGH LLYTGYPMFM PYRPLVLPQA
     LAPAPLPAGL PPLAPLASFA GRLTNTFCAG LGQAVPSMVA LTTALPSFAE PPDAFYGPQE
     LAAAAAAAAA TAARNNPEPG GRRPEGGLEA DELLPAREKV AEPPPPPPPH FSETFPSLPA
     EGKVYSSDEE KLEASAGDPA GSEQEEEGSG GDSEDDGFLD SSAGGPGALL GPKPKLKGSL
     GTGAEEGAPV TAGVTAPGGK SRRRRTAFTS EQLLELEKEF HCKKYLSLTE RSQIAHALKL
     SEVQVKIWFQ NRRAKWKRIK AGNVSSRSGE PVRNPKIVVP IPVHVNRFAV RSQHQQMEQG
     ARP
//