UniProtKB - Q9HBU1 (BARX1_HUMAN)
Protein
Homeobox protein BarH-like 1
Gene
BARX1
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity (By similarity). Binds to a regulatory module of the NCAM promoter.By similarity1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 142 – 201 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: GO_Central
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- anterior/posterior pattern specification Source: Ensembl
- cell-cell signaling Source: Ensembl
- digestive system development Source: Ensembl
- epithelial cell differentiation Source: Ensembl
- negative regulation of Wnt signaling pathway Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
- spleen development Source: Ensembl
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9HBU1 |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein BarH-like 1 |
Gene namesi | Name:BARX1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000131668.13 |
HGNCi | HGNC:955, BARX1 |
MIMi | 603260, gene |
neXtProti | NX_Q9HBU1 |
Subcellular locationi
Nucleus
- Nucleus Curated
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 56033 |
OpenTargetsi | ENSG00000131668 |
PharmGKBi | PA25259 |
Miscellaneous databases
Pharosi | Q9HBU1, Tbio |
Polymorphism and mutation databases
BioMutai | BARX1 |
DMDMi | 205830909 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048834 | 1 – 254 | Homeobox protein BarH-like 1Add BLAST | 254 |
Proteomic databases
jPOSTi | Q9HBU1 |
MassIVEi | Q9HBU1 |
MaxQBi | Q9HBU1 |
PaxDbi | Q9HBU1 |
PeptideAtlasi | Q9HBU1 |
PRIDEi | Q9HBU1 |
ProteomicsDBi | 81593 [Q9HBU1-1] 81594 [Q9HBU1-2] |
PTM databases
iPTMneti | Q9HBU1 |
PhosphoSitePlusi | Q9HBU1 |
Expressioni
Tissue specificityi
Widely expressed. Expressed at higher levels in testis and heart. Detected in craniofacial tissue and adult iris, but not in lymphocytes, fibroblasts, choroid retina, retinal pigment epithelium, kidney, or fetal liver.
Gene expression databases
Bgeei | ENSG00000131668, Expressed in esophagus and 74 other tissues |
Genevisiblei | Q9HBU1, HS |
Organism-specific databases
HPAi | ENSG00000131668, Tissue enriched (stomach) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 121031, 8 interactors |
IntActi | Q9HBU1, 6 interactors |
MINTi | Q9HBU1 |
STRINGi | 9606.ENSP00000253968 |
Miscellaneous databases
RNActi | Q9HBU1, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | Q9HBU1 |
SMRi | Q9HBU1 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9HBU1 |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 44 – 53 | Poly-Ala | 10 |
Sequence similaritiesi
Belongs to the BAR homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0488, Eukaryota |
GeneTreei | ENSGT00940000160218 |
HOGENOMi | CLU_090214_1_0_1 |
InParanoidi | Q9HBU1 |
OMAi | MQHPLDL |
OrthoDBi | 1382174at2759 |
PhylomeDBi | Q9HBU1 |
TreeFami | TF350735 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR020479, Homeobox_metazoa IPR000047, HTH_motif |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00024, HOMEOBOX PR00031, HTHREPRESSR |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9HBU1-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MQRPGEPGAA RFGPPEGCAD HRPHRYRSFM IEEILTEPPG PKGAAPAAAA
60 70 80 90 100
AAAGELLKFG VQALLAARPF HSHLAVLKAE QAAVFKFPLA PLGCSGLSSA
110 120 130 140 150
LLAAGPGLPG AAGAPHLPLE LQLRGKLEAA GPGEPGTKAK KGRRSRTVFT
160 170 180 190 200
ELQLMGLEKR FEKQKYLSTP DRIDLAESLG LSQLQVKTWY QNRRMKWKKI
210 220 230 240 250
VLQGGGLESP TKPKGRPKKN SIPTSEQLTE QERAKDAEKP AEVPGEPSDR
SRED
Sequence cautioni
The sequence AAG23738 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 8 | G → A in AAG23738 (PubMed:10995576).Curated | 1 | |
Sequence conflicti | 14 | P → A in AAG23738 (PubMed:10995576).Curated | 1 | |
Sequence conflicti | 24 | H → Q in AAG23738 (PubMed:10995576).Curated | 1 | |
Sequence conflicti | 122 – 123 | QL → HV in AAG23738 (PubMed:10995576).Curated | 2 |
Polymorphismi
The polymorphism is not associated with Axenfeld-Reiger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS) or related ocular malformations.1 Publication
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010927 | 48 | A → T1 PublicationCorresponds to variant dbSNP:rs191789925Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_034700 | 1 – 154 | Missing in isoform 2. 1 PublicationAdd BLAST | 154 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF213356 mRNA Translation: AAG23738.1 Frameshift. AL357073 Genomic DNA No translation available. CH471089 Genomic DNA Translation: EAW62873.1 BC009458 mRNA Translation: AAH09458.1 BC064363 mRNA Translation: AAH64363.1 |
CCDSi | CCDS35070.2 [Q9HBU1-1] |
RefSeqi | NP_067545.3, NM_021570.3 [Q9HBU1-1] |
Genome annotation databases
Ensembli | ENST00000253968; ENSP00000253968; ENSG00000131668 [Q9HBU1-1] ENST00000401724; ENSP00000385613; ENSG00000131668 [Q9HBU1-2] |
GeneIDi | 56033 |
KEGGi | hsa:56033 |
UCSCi | uc004aud.3, human [Q9HBU1-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF213356 mRNA Translation: AAG23738.1 Frameshift. AL357073 Genomic DNA No translation available. CH471089 Genomic DNA Translation: EAW62873.1 BC009458 mRNA Translation: AAH09458.1 BC064363 mRNA Translation: AAH64363.1 |
CCDSi | CCDS35070.2 [Q9HBU1-1] |
RefSeqi | NP_067545.3, NM_021570.3 [Q9HBU1-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2DMT | NMR | - | A | 133-199 | [»] | |
BMRBi | Q9HBU1 | |||||
SMRi | Q9HBU1 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 121031, 8 interactors |
IntActi | Q9HBU1, 6 interactors |
MINTi | Q9HBU1 |
STRINGi | 9606.ENSP00000253968 |
PTM databases
iPTMneti | Q9HBU1 |
PhosphoSitePlusi | Q9HBU1 |
Polymorphism and mutation databases
BioMutai | BARX1 |
DMDMi | 205830909 |
Proteomic databases
jPOSTi | Q9HBU1 |
MassIVEi | Q9HBU1 |
MaxQBi | Q9HBU1 |
PaxDbi | Q9HBU1 |
PeptideAtlasi | Q9HBU1 |
PRIDEi | Q9HBU1 |
ProteomicsDBi | 81593 [Q9HBU1-1] 81594 [Q9HBU1-2] |
Protocols and materials databases
Antibodypediai | 28447, 235 antibodies |
DNASUi | 56033 |
Genome annotation databases
Ensembli | ENST00000253968; ENSP00000253968; ENSG00000131668 [Q9HBU1-1] ENST00000401724; ENSP00000385613; ENSG00000131668 [Q9HBU1-2] |
GeneIDi | 56033 |
KEGGi | hsa:56033 |
UCSCi | uc004aud.3, human [Q9HBU1-1] |
Organism-specific databases
CTDi | 56033 |
DisGeNETi | 56033 |
EuPathDBi | HostDB:ENSG00000131668.13 |
GeneCardsi | BARX1 |
HGNCi | HGNC:955, BARX1 |
HPAi | ENSG00000131668, Tissue enriched (stomach) |
MIMi | 603260, gene |
neXtProti | NX_Q9HBU1 |
OpenTargetsi | ENSG00000131668 |
PharmGKBi | PA25259 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0488, Eukaryota |
GeneTreei | ENSGT00940000160218 |
HOGENOMi | CLU_090214_1_0_1 |
InParanoidi | Q9HBU1 |
OMAi | MQHPLDL |
OrthoDBi | 1382174at2759 |
PhylomeDBi | Q9HBU1 |
TreeFami | TF350735 |
Enzyme and pathway databases
PathwayCommonsi | Q9HBU1 |
Miscellaneous databases
BioGRID-ORCSi | 56033, 5 hits in 867 CRISPR screens |
EvolutionaryTracei | Q9HBU1 |
GenomeRNAii | 56033 |
Pharosi | Q9HBU1, Tbio |
PROi | PR:Q9HBU1 |
RNActi | Q9HBU1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000131668, Expressed in esophagus and 74 other tissues |
Genevisiblei | Q9HBU1, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR020479, Homeobox_metazoa IPR000047, HTH_motif |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00024, HOMEOBOX PR00031, HTHREPRESSR |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BARX1_HUMAN | |
Accessioni | Q9HBU1Primary (citable) accession number: Q9HBU1 Secondary accession number(s): Q6P2R4, Q96GH8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 2001 |
Last sequence update: | July 22, 2008 | |
Last modified: | December 2, 2020 | |
This is version 170 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations