Q9HBU1 (BARX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein BarH-like 1

Gene names

Name:

BARX1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	254 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterior/posterior pattern specification Inferred from electronic annotation. Source: Compara cell-cell signaling Inferred from electronic annotation. Source: Compara digestive system development Inferred from electronic annotation. Source: Compara epithelial cell differentiation Inferred from electronic annotation. Source: Compara multicellular organismal development Non-traceable author statement. Source: UniProtKB negative regulation of Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara spleen development Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nuclear chromosome Non-traceable author statement. Source: UniProtKB
Molecular_function	sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.1. Source: UniProtKB transcription regulatory region sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 254

254

Homeobox protein BarH-like 1

PRO_0000048834

Regions

DNA binding

142 – 201

60

Homeobox

Compositional bias

44 – 53

10

Poly-Ala

Natural variations

Alternative sequence

1 – 154

154

Missing in isoform 2.

VSP_034700

Natural variant

48

1

A → T. Ref.1

VAR_010927

Experimental info

Sequence conflict

8

1

G → A in AAG23738. Ref.1

Sequence conflict

14

1

P → A in AAG23738. Ref.1

Sequence conflict

24

1

H → Q in AAG23738. Ref.1

Sequence conflict

122 – 123

2

QL → HV in AAG23738. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

254

Helix Strand Turn

Details...

Helix

151 – 163

13

Helix

169 – 179

11

Helix

183 – 197

15

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 22, 2008. Version 2. Checksum: 772C7C12F765C684	FASTA	254	27,298
	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
	Isoform 2 [UniParc]. Checksum: 9F56D9D47A57C69C	FASTA	100	11,481
	10 20 30 40 50 60 MGLEKRFEKQ KYLSTPDRID LAESLGLSQL QVKTWYQNRR MKWKKIVLQG GGLESPTKPK 70 80 90 100 GRPKKNSIPT SEQLTEQERA KDAEKPAEVP GEPSDRSRED

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.

IPI

IPI00871182.
IPI00879135.

RefSeq

NP_067545.3. NM_021570.3.

UniGene

Hs.164960.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DMT	NMR	-	A	133-199	[»]

ProteinModelPortal

Q9HBU1.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9HBU1. 2 interactions.

STRING

9606.ENSP00000253968.

PTM databases

PhosphoSite

Q9HBU1.

Polymorphism databases

DMDM

205830909.

Proteomic databases

PaxDb

Q9HBU1.

PRIDE

Q9HBU1.

Protocols and materials databases

DNASU

56033.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000253968; ENSP00000253968; ENSG00000131668.
ENST00000401724; ENSP00000385613; ENSG00000131668.

GeneID

56033.

KEGG

hsa:56033.

UCSC

uc004aud.3. human.
uc010mrh.3. human.

Organism-specific databases

CTD

56033.

GeneCards

GC09M096713.

HGNC

HGNC:955. BARX1.

MIM

603260. gene.

neXtProt

NX_Q9HBU1.

PharmGKB

PA25259.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG286750.

HOGENOM

HOG000231924.

HOVERGEN

HBG050665.

InParanoid

Q9HBU1.

KO

K09361.

OMA

ARPFHSH.

OrthoDB

EOG4BZN3J.

Gene expression databases

Bgee

Q9HBU1.

CleanEx

HS_BARX1.

Genevestigator

Q9HBU1.

GermOnline

ENSG00000131668. Homo sapiens.

Family and domain databases

Gene3D

1.10.10.60. 1 hit.

InterPro

IPR017970. Homeobox_CS.
IPR020479. Homeobox_metazoa.
IPR001356. Homeodomain.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]

Pfam

PF00046. Homeobox. 1 hit.
[Graphical view]

PRINTS

PR00024. HOMEOBOX.
PR00031. HTHREPRESSR.

SMART

SM00389. HOX. 1 hit.
[Graphical view]

SUPFAM

SSF46689. Homeodomain_like. 1 hit.

PROSITE

PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q9HBU1.

GenomeRNAi

56033.

NextBio

61467.

SOURCE

Search...

Entry information

Entry name

BARX1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 106 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.