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Q9HBU1 (BARX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein BarH-like 1
Gene names
Name:BARX1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length254 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5

Subcellular location

Nucleus Probable.

Tissue specificity

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.

Polymorphism

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

Sequence similarities

Belongs to the BAR homeobox family.

Contains 1 homeobox DNA-binding domain.

Sequence caution

The sequence AAG23738.1 differs from that shown. Reason: Frameshift at several positions.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9HBU1-1)

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.
Isoform 2 (identifier: Q9HBU1-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 254254Homeobox protein BarH-like 1
PRO_0000048834

Regions

DNA binding142 – 20160Homeobox
Compositional bias44 – 5310Poly-Ala

Natural variations

Alternative sequence1 – 154154Missing in isoform 2.
VSP_034700
Natural variant481A → T. Ref.1
Corresponds to variant rs191789925 [ dbSNP | Ensembl ].
VAR_010927

Experimental info

Sequence conflict81G → A in AAG23738. Ref.1
Sequence conflict141P → A in AAG23738. Ref.1
Sequence conflict241H → Q in AAG23738. Ref.1
Sequence conflict122 – 1232QL → HV in AAG23738. Ref.1

Secondary structure

....... 254
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 22, 2008. Version 2.
Checksum: 772C7C12F765C684

FASTA25427,298
        10         20         30         40         50         60 
MQRPGEPGAA RFGPPEGCAD HRPHRYRSFM IEEILTEPPG PKGAAPAAAA AAAGELLKFG 

        70         80         90        100        110        120 
VQALLAARPF HSHLAVLKAE QAAVFKFPLA PLGCSGLSSA LLAAGPGLPG AAGAPHLPLE 

       130        140        150        160        170        180 
LQLRGKLEAA GPGEPGTKAK KGRRSRTVFT ELQLMGLEKR FEKQKYLSTP DRIDLAESLG 

       190        200        210        220        230        240 
LSQLQVKTWY QNRRMKWKKI VLQGGGLESP TKPKGRPKKN SIPTSEQLTE QERAKDAEKP 

       250 
AEVPGEPSDR SRED 

« Hide

Isoform 2 [UniParc].

Checksum: 9F56D9D47A57C69C
Show »

FASTA10011,481

References

« Hide 'large scale' references
[1]"Cloning, characterization, localization, and mutational screening of the human BARX1 gene."
Gould D.B., Walter M.A.
Genomics 68:336-342(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-48.
Tissue: Craniofacial.
[2]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Lung and Uterus.
[5]"Transformation of tooth type induced by inhibition of BMP signaling."
Tucker A.S., Matthews K.L., Sharpe P.T.
Science 282:1136-1138(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[6]"Solution structure of the homeobox domain of homeobox protein BarH-like 1."
RIKEN structural genomics initiative (RSGI)
Submitted (OCT-2006) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 132-199.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS35070.2. [Q9HBU1-1]
RefSeqNP_067545.3. NM_021570.3. [Q9HBU1-1]
UniGeneHs.164960.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2DMTNMR-A133-199[»]
ProteinModelPortalQ9HBU1.
SMRQ9HBU1. Positions 134-199.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121031. 5 interactions.
IntActQ9HBU1. 4 interactions.
MINTMINT-6782029.
STRING9606.ENSP00000253968.

PTM databases

PhosphoSiteQ9HBU1.

Polymorphism databases

DMDM205830909.

Proteomic databases

MaxQBQ9HBU1.
PaxDbQ9HBU1.
PRIDEQ9HBU1.

Protocols and materials databases

DNASU56033.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000253968; ENSP00000253968; ENSG00000131668. [Q9HBU1-1]
ENST00000401724; ENSP00000385613; ENSG00000131668. [Q9HBU1-2]
GeneID56033.
KEGGhsa:56033.
UCSCuc004aud.3. human. [Q9HBU1-2]
uc010mrh.3. human. [Q9HBU1-1]

Organism-specific databases

CTD56033.
GeneCardsGC09M096713.
HGNCHGNC:955. BARX1.
MIM603260. gene.
neXtProtNX_Q9HBU1.
PharmGKBPA25259.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG286750.
HOGENOMHOG000231924.
HOVERGENHBG050665.
InParanoidQ9HBU1.
KOK09361.
OMAGEPGTKA.
OrthoDBEOG71G9VZ.
PhylomeDBQ9HBU1.
TreeFamTF350735.

Gene expression databases

BgeeQ9HBU1.
CleanExHS_BARX1.
GenevestigatorQ9HBU1.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9HBU1.
GenomeRNAi56033.
NextBio61467.
PROQ9HBU1.
SOURCESearch...

Entry information

Entry nameBARX1_HUMAN
AccessionPrimary (citable) accession number: Q9HBU1
Secondary accession number(s): Q6P2R4, Q96GH8
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: July 22, 2008
Last modified: July 9, 2014
This is version 118 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM