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Protein

Homeobox protein BarH-like 1

Gene

BARX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi142 – 201HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131668-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein BarH-like 1
Gene namesi
Name:BARX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:955. BARX1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi56033.
OpenTargetsiENSG00000131668.
PharmGKBiPA25259.

Polymorphism and mutation databases

BioMutaiBARX1.
DMDMi205830909.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000488341 – 254Homeobox protein BarH-like 1Add BLAST254

Proteomic databases

EPDiQ9HBU1.
MaxQBiQ9HBU1.
PaxDbiQ9HBU1.
PeptideAtlasiQ9HBU1.
PRIDEiQ9HBU1.

PTM databases

iPTMnetiQ9HBU1.
PhosphoSitePlusiQ9HBU1.

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

BgeeiENSG00000131668.
CleanExiHS_BARX1.
GenevisibleiQ9HBU1. HS.

Interactioni

Protein-protein interaction databases

BioGridi121031. 7 interactors.
IntActiQ9HBU1. 6 interactors.
MINTiMINT-6782029.
STRINGi9606.ENSP00000253968.

Structurei

Secondary structure

1254
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi151 – 163Combined sources13
Helixi169 – 179Combined sources11
Helixi183 – 197Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DMTNMR-A133-199[»]
ProteinModelPortaliQ9HBU1.
SMRiQ9HBU1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9HBU1.

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi44 – 53Poly-Ala10

Sequence similaritiesi

Belongs to the BAR homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0488. Eukaryota.
ENOG411188D. LUCA.
GeneTreeiENSGT00860000133665.
HOGENOMiHOG000231924.
HOVERGENiHBG050665.
InParanoidiQ9HBU1.
KOiK09361.
OMAiARPFHSH.
OrthoDBiEOG091G10IN.
PhylomeDBiQ9HBU1.
TreeFamiTF350735.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9HBU1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:254
Mass (Da):27,298
Last modified:July 22, 2008 - v2
Checksum:i772C7C12F765C684
GO
Isoform 2 (identifier: Q9HBU1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-154: Missing.

Show »
Length:100
Mass (Da):11,481
Checksum:i9F56D9D47A57C69C
GO

Sequence cautioni

The sequence AAG23738 differs from that shown. Reason: Frameshift at several positions.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti8G → A in AAG23738 (PubMed:10995576).Curated1
Sequence conflicti14P → A in AAG23738 (PubMed:10995576).Curated1
Sequence conflicti24H → Q in AAG23738 (PubMed:10995576).Curated1
Sequence conflicti122 – 123QL → HV in AAG23738 (PubMed:10995576).Curated2

Polymorphismi

The polymorphism is not associated with Axenfeld-Reiger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS) or related ocular malformations.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01092748A → T.1 PublicationCorresponds to variant rs191789925dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0347001 – 154Missing in isoform 2. 1 PublicationAdd BLAST154

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF213356 mRNA. Translation: AAG23738.1. Frameshift.
AL357073 Genomic DNA. Translation: CAQ06883.1.
AL357073 Genomic DNA. Translation: CAQ06884.1.
CH471089 Genomic DNA. Translation: EAW62873.1.
BC009458 mRNA. Translation: AAH09458.1.
BC064363 mRNA. Translation: AAH64363.1.
CCDSiCCDS35070.2. [Q9HBU1-1]
RefSeqiNP_067545.3. NM_021570.3. [Q9HBU1-1]
UniGeneiHs.164960.

Genome annotation databases

EnsembliENST00000253968; ENSP00000253968; ENSG00000131668. [Q9HBU1-1]
ENST00000401724; ENSP00000385613; ENSG00000131668. [Q9HBU1-2]
GeneIDi56033.
KEGGihsa:56033.
UCSCiuc004aud.3. human. [Q9HBU1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF213356 mRNA. Translation: AAG23738.1. Frameshift.
AL357073 Genomic DNA. Translation: CAQ06883.1.
AL357073 Genomic DNA. Translation: CAQ06884.1.
CH471089 Genomic DNA. Translation: EAW62873.1.
BC009458 mRNA. Translation: AAH09458.1.
BC064363 mRNA. Translation: AAH64363.1.
CCDSiCCDS35070.2. [Q9HBU1-1]
RefSeqiNP_067545.3. NM_021570.3. [Q9HBU1-1]
UniGeneiHs.164960.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DMTNMR-A133-199[»]
ProteinModelPortaliQ9HBU1.
SMRiQ9HBU1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121031. 7 interactors.
IntActiQ9HBU1. 6 interactors.
MINTiMINT-6782029.
STRINGi9606.ENSP00000253968.

PTM databases

iPTMnetiQ9HBU1.
PhosphoSitePlusiQ9HBU1.

Polymorphism and mutation databases

BioMutaiBARX1.
DMDMi205830909.

Proteomic databases

EPDiQ9HBU1.
MaxQBiQ9HBU1.
PaxDbiQ9HBU1.
PeptideAtlasiQ9HBU1.
PRIDEiQ9HBU1.

Protocols and materials databases

DNASUi56033.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253968; ENSP00000253968; ENSG00000131668. [Q9HBU1-1]
ENST00000401724; ENSP00000385613; ENSG00000131668. [Q9HBU1-2]
GeneIDi56033.
KEGGihsa:56033.
UCSCiuc004aud.3. human. [Q9HBU1-1]

Organism-specific databases

CTDi56033.
DisGeNETi56033.
GeneCardsiBARX1.
HGNCiHGNC:955. BARX1.
MIMi603260. gene.
neXtProtiNX_Q9HBU1.
OpenTargetsiENSG00000131668.
PharmGKBiPA25259.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0488. Eukaryota.
ENOG411188D. LUCA.
GeneTreeiENSGT00860000133665.
HOGENOMiHOG000231924.
HOVERGENiHBG050665.
InParanoidiQ9HBU1.
KOiK09361.
OMAiARPFHSH.
OrthoDBiEOG091G10IN.
PhylomeDBiQ9HBU1.
TreeFamiTF350735.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131668-MONOMER.

Miscellaneous databases

EvolutionaryTraceiQ9HBU1.
GenomeRNAii56033.
PROiQ9HBU1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131668.
CleanExiHS_BARX1.
GenevisibleiQ9HBU1. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBARX1_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 140 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.