Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Homeobox protein BarH-like 1

Gene

BARX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

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

EuPathDBiHostDB:ENSG00000131668.13
HGNCiHGNC:955 BARX1
MIMi603260 gene
neXtProtiNX_Q9HBU1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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

Organism-specific databases

HPAiHPA055858

Interactioni

Protein-protein interaction databases

BioGridi121031, 7 interactors
IntActiQ9HBU1, 6 interactors
MINTiQ9HBU1
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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0488 Eukaryota
ENOG411188D LUCA
GeneTreeiENSGT00910000143987
HOGENOMiHOG000231924
HOVERGENiHBG050665
InParanoidiQ9HBU1
KOiK09361
OMAiFHSHLAV
OrthoDBiEOG091G10IN
PhylomeDBiQ9HBU1
TreeFamiTF350735

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
PR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

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 → T1 PublicationCorresponds to variant dbSNP:rs191789925Ensembl.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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiBARX1_HUMAN
AccessioniPrimary (citable) accession number: Q9HBU1
Secondary accession number(s): Q6P2R4, Q96GH8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: July 22, 2008
Last modified: May 23, 2018
This is version 151 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health