GBX1_HUMAN
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 03-AUG-2022, entry version 171.
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; Q14549; -.
DR PeptideAtlas; Q14549; -.
DR PRIDE; Q14549; -.
DR Antibodypedia; 32984; 123 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 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; 1406210at2759; -.
DR PhylomeDB; Q14549; -.
DR TreeFam; TF351530; -.
DR PathwayCommons; Q14549; -.
DR SignaLink; Q14549; -.
DR BioGRID-ORCS; 2636; 8 hits in 1084 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 tissues.
DR Genevisible; Q14549; HS.
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 InterPro; IPR031251; GBX-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; PTHR24334; 1.
DR PANTHER; PTHR24334:SF2; PTHR24334:SF2; 1.
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 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
