BARX1_HUMAN
ID BARX1_HUMAN Reviewed; 254 AA.
AC Q9HBU1; Q6P2R4; Q96GH8;
DT 01-JUN-2001, integrated into UniProtKB/Swiss-Prot.
DT 22-JUL-2008, sequence version 2.
DT 03-AUG-2022, entry version 177.
DE RecName: Full=Homeobox protein BarH-like 1;
GN Name=BARX1;
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 [MRNA] (ISOFORM 1), AND VARIANT THR-48.
RC TISSUE=Craniofacial;
RX PubMed=10995576; DOI=10.1006/geno.2000.6307;
RA Gould D.B., Walter M.A.;
RT "Cloning, characterization, localization, and mutational screening of the
RT human BARX1 gene.";
RL Genomics 68:336-342(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lung, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP FUNCTION.
RX PubMed=9804553; DOI=10.1126/science.282.5391.1136;
RA Tucker A.S., Matthews K.L., Sharpe P.T.;
RT "Transformation of tooth type induced by inhibition of BMP signaling.";
RL Science 282:1136-1138(1998).
RN [6]
RP STRUCTURE BY NMR OF 132-199.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of the homeobox domain of homeobox protein BarH-like
RT 1.";
RL Submitted (OCT-2006) to the PDB data bank.
CC -!- FUNCTION: Transcription factor, which is involved in craniofacial
CC development, in odontogenesis and in stomach organogenesis. May have a
CC role in the differentiation of molars from incisors. Plays a role in
CC suppressing endodermal Wnt activity (By similarity). Binds to a
CC regulatory module of the NCAM promoter. {ECO:0000250,
CC ECO:0000269|PubMed:9804553}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9HBU1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9HBU1-2; Sequence=VSP_034700;
CC -!- TISSUE SPECIFICITY: Widely expressed. Expressed at higher levels in
CC testis and heart. Detected in craniofacial tissue and adult iris, but
CC not in lymphocytes, fibroblasts, choroid retina, retinal pigment
CC epithelium, kidney, or fetal liver.
CC -!- POLYMORPHISM: The polymorphism is not associated with Axenfeld-Reiger
CC syndrome (ARS), iridogoniodysgenesis syndrome (IGDS) or related ocular
CC malformations. {ECO:0000305|PubMed:10995576}.
CC -!- SIMILARITY: Belongs to the BAR homeobox family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG23738.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF213356; AAG23738.1; ALT_FRAME; mRNA.
DR EMBL; AL357073; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471089; EAW62873.1; -; Genomic_DNA.
DR EMBL; BC009458; AAH09458.1; -; mRNA.
DR EMBL; BC064363; AAH64363.1; -; mRNA.
DR CCDS; CCDS35070.2; -. [Q9HBU1-1]
DR RefSeq; NP_067545.3; NM_021570.3. [Q9HBU1-1]
DR PDB; 2DMT; NMR; -; A=133-199.
DR PDBsum; 2DMT; -.
DR AlphaFoldDB; Q9HBU1; -.
DR BMRB; Q9HBU1; -.
DR SMR; Q9HBU1; -.
DR BioGRID; 121031; 8.
DR IntAct; Q9HBU1; 6.
DR MINT; Q9HBU1; -.
DR STRING; 9606.ENSP00000253968; -.
DR iPTMnet; Q9HBU1; -.
DR PhosphoSitePlus; Q9HBU1; -.
DR BioMuta; BARX1; -.
DR DMDM; 205830909; -.
DR jPOST; Q9HBU1; -.
DR MassIVE; Q9HBU1; -.
DR MaxQB; Q9HBU1; -.
DR PaxDb; Q9HBU1; -.
DR PeptideAtlas; Q9HBU1; -.
DR PRIDE; Q9HBU1; -.
DR Antibodypedia; 28447; 251 antibodies from 26 providers.
DR DNASU; 56033; -.
DR Ensembl; ENST00000253968.11; ENSP00000253968.5; ENSG00000131668.14. [Q9HBU1-1]
DR Ensembl; ENST00000401724.1; ENSP00000385613.1; ENSG00000131668.14. [Q9HBU1-2]
DR GeneID; 56033; -.
DR KEGG; hsa:56033; -.
DR MANE-Select; ENST00000253968.11; ENSP00000253968.5; NM_021570.4; NP_067545.3.
DR UCSC; uc004aud.3; human. [Q9HBU1-1]
DR CTD; 56033; -.
DR DisGeNET; 56033; -.
DR GeneCards; BARX1; -.
DR HGNC; HGNC:955; BARX1.
DR HPA; ENSG00000131668; Tissue enriched (stomach).
DR MIM; 603260; gene.
DR neXtProt; NX_Q9HBU1; -.
DR OpenTargets; ENSG00000131668; -.
DR PharmGKB; PA25259; -.
DR VEuPathDB; HostDB:ENSG00000131668; -.
DR eggNOG; KOG0488; Eukaryota.
DR GeneTree; ENSGT00940000160218; -.
DR HOGENOM; CLU_090214_1_0_1; -.
DR InParanoid; Q9HBU1; -.
DR OMA; LGAHYYP; -.
DR OrthoDB; 1382174at2759; -.
DR PhylomeDB; Q9HBU1; -.
DR TreeFam; TF350735; -.
DR PathwayCommons; Q9HBU1; -.
DR SignaLink; Q9HBU1; -.
DR BioGRID-ORCS; 56033; 13 hits in 1091 CRISPR screens.
DR EvolutionaryTrace; Q9HBU1; -.
DR GenomeRNAi; 56033; -.
DR Pharos; Q9HBU1; Tbio.
DR PRO; PR:Q9HBU1; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9HBU1; protein.
DR Bgee; ENSG00000131668; Expressed in mucosa of stomach and 70 other tissues.
DR Genevisible; Q9HBU1; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:UniProtKB.
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:0009952; P:anterior/posterior pattern specification; IEA:Ensembl.
DR GO; GO:0055123; P:digestive system development; IEA:Ensembl.
DR GO; GO:0045446; P:endothelial cell differentiation; IEA:Ensembl.
DR GO; GO:0030178; P:negative regulation of Wnt signaling pathway; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0048536; P:spleen development; IEA:Ensembl.
DR GO; GO:0016055; P:Wnt signaling pathway; 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 InterPro; IPR000047; HTH_motif.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR PRINTS; PR00031; HTHREPRESSR.
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; Alternative splicing; DNA-binding; Homeobox; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..254
FT /note="Homeobox protein BarH-like 1"
FT /id="PRO_0000048834"
FT DNA_BIND 142..201
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 204..254
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 229..254
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..154
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_034700"
FT VARIANT 48
FT /note="A -> T (in dbSNP:rs191789925)"
FT /evidence="ECO:0000269|PubMed:10995576"
FT /id="VAR_010927"
FT CONFLICT 8
FT /note="G -> A (in Ref. 1; AAG23738)"
FT /evidence="ECO:0000305"
FT CONFLICT 14
FT /note="P -> A (in Ref. 1; AAG23738)"
FT /evidence="ECO:0000305"
FT CONFLICT 24
FT /note="H -> Q (in Ref. 1; AAG23738)"
FT /evidence="ECO:0000305"
FT CONFLICT 122..123
FT /note="QL -> HV (in Ref. 1; AAG23738)"
FT /evidence="ECO:0000305"
FT HELIX 151..163
FT /evidence="ECO:0007829|PDB:2DMT"
FT HELIX 169..179
FT /evidence="ECO:0007829|PDB:2DMT"
FT HELIX 183..197
FT /evidence="ECO:0007829|PDB:2DMT"
SQ SEQUENCE 254 AA; 27298 MW; 772C7C12F765C684 CRC64;
MQRPGEPGAA RFGPPEGCAD HRPHRYRSFM IEEILTEPPG PKGAAPAAAA AAAGELLKFG
VQALLAARPF HSHLAVLKAE QAAVFKFPLA PLGCSGLSSA LLAAGPGLPG AAGAPHLPLE
LQLRGKLEAA GPGEPGTKAK KGRRSRTVFT ELQLMGLEKR FEKQKYLSTP DRIDLAESLG
LSQLQVKTWY QNRRMKWKKI VLQGGGLESP TKPKGRPKKN SIPTSEQLTE QERAKDAEKP
AEVPGEPSDR SRED
