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Q9BZE3

- BARH1_HUMAN

UniProt

Q9BZE3 - BARH1_HUMAN

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Protein
BarH-like 1 homeobox protein
Gene
BARHL1, FKSG31
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi178 – 23760Homeobox
Add
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  2. sequence-specific DNA binding Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. midbrain development Source: Ensembl
  2. negative regulation of neuron apoptotic process Source: Ensembl
  3. neuron migration Source: Ensembl
  4. sensory perception of sound Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
BarH-like 1 homeobox protein
Gene namesi
Name:BARHL1
ORF Names:FKSG31
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:953. BARHL1.

Subcellular locationi

Nucleus Inferred

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25257.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 327327BarH-like 1 homeobox protein
PRO_0000048826Add
BLAST

Proteomic databases

PaxDbiQ9BZE3.
PRIDEiQ9BZE3.

PTM databases

PhosphoSiteiQ9BZE3.

Expressioni

Gene expression databases

BgeeiQ9BZE3.
CleanExiHS_BARHL1.
GenevestigatoriQ9BZE3.

Organism-specific databases

HPAiHPA004809.

Interactioni

Protein-protein interaction databases

BioGridi121195. 3 interactions.
STRINGi9606.ENSP00000263610.

Structurei

3D structure databases

ProteinModelPortaliQ9BZE3.
SMRiQ9BZE3. Positions 155-238.

Family & Domainsi

Sequence similaritiesi

Belongs to the BAR homeobox family.

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG263484.
HOGENOMiHOG000231533.
HOVERGENiHBG050663.
InParanoidiQ9BZE3.
KOiK09360.
OMAiDCLETGA.
OrthoDBiEOG79GT7B.
PhylomeDBiQ9BZE3.
TreeFamiTF316128.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

Q9BZE3-1 [UniParc]FASTAAdd to Basket

« Hide

MEGSNGFGID SILSHRAGSP ALPKGDPLLG DCRSPLELSP RSESSSDCSS    50
PASPGRDCLE TGTPRPGGAS GPGLDSHLQP GQLSAPAQSR TVTSSFLIRD 100
ILADCKPLAA CAPYSSSGQP AAPEPGGRLA AKAAEDFRDK LDKSGSNASS 150
DSEYKVKEEG DREISSSRDS PPVRLKKPRK ARTAFTDHQL AQLERSFERQ 200
KYLSVQDRME LAASLNLTDT QVKTWYQNRR TKWKRQTAVG LELLAEAGNY 250
SALQRMFPSP YFYPQSLVSN LDPGAALYLY RGPSAPPPAL QRPLVPRILI 300
HGLQGASEPP PPLPPLAGVL PRAAQPR 327
Length:327
Mass (Da):35,074
Last modified:June 1, 2001 - v1
Checksum:i5BFCE201BC6359D6
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF325688 mRNA. Translation: AAG50279.1.
AF321618 mRNA. Translation: AAK52674.1.
AK054797 mRNA. Translation: BAB70807.1.
AL354735 Genomic DNA. Translation: CAI16566.1.
CH471090 Genomic DNA. Translation: EAW88005.1.
BC136956 mRNA. Translation: AAI36957.1.
BC136969 mRNA. Translation: AAI36970.1.
AJ237816 Genomic DNA. Translation: CAB92439.1.
CCDSiCCDS6950.1.
RefSeqiNP_064448.1. NM_020064.3.
UniGeneiHs.283809.

Genome annotation databases

EnsembliENST00000263610; ENSP00000263610; ENSG00000125492.
ENST00000542090; ENSP00000444704; ENSG00000125492.
GeneIDi56751.
KEGGihsa:56751.
UCSCiuc004cbp.1. human.

Polymorphism databases

DMDMi29336920.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF325688 mRNA. Translation: AAG50279.1 .
AF321618 mRNA. Translation: AAK52674.1 .
AK054797 mRNA. Translation: BAB70807.1 .
AL354735 Genomic DNA. Translation: CAI16566.1 .
CH471090 Genomic DNA. Translation: EAW88005.1 .
BC136956 mRNA. Translation: AAI36957.1 .
BC136969 mRNA. Translation: AAI36970.1 .
AJ237816 Genomic DNA. Translation: CAB92439.1 .
CCDSi CCDS6950.1.
RefSeqi NP_064448.1. NM_020064.3.
UniGenei Hs.283809.

3D structure databases

ProteinModelPortali Q9BZE3.
SMRi Q9BZE3. Positions 155-238.
ModBasei Search...

Protein-protein interaction databases

BioGridi 121195. 3 interactions.
STRINGi 9606.ENSP00000263610.

PTM databases

PhosphoSitei Q9BZE3.

Polymorphism databases

DMDMi 29336920.

Proteomic databases

PaxDbi Q9BZE3.
PRIDEi Q9BZE3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263610 ; ENSP00000263610 ; ENSG00000125492 .
ENST00000542090 ; ENSP00000444704 ; ENSG00000125492 .
GeneIDi 56751.
KEGGi hsa:56751.
UCSCi uc004cbp.1. human.

Organism-specific databases

CTDi 56751.
GeneCardsi GC09P135457.
HGNCi HGNC:953. BARHL1.
HPAi HPA004809.
MIMi 605211. gene.
neXtProti NX_Q9BZE3.
PharmGKBi PA25257.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG263484.
HOGENOMi HOG000231533.
HOVERGENi HBG050663.
InParanoidi Q9BZE3.
KOi K09360.
OMAi DCLETGA.
OrthoDBi EOG79GT7B.
PhylomeDBi Q9BZE3.
TreeFami TF316128.

Miscellaneous databases

GenomeRNAii 56751.
NextBioi 62212.
PROi Q9BZE3.
SOURCEi Search...

Gene expression databases

Bgeei Q9BZE3.
CleanExi HS_BARHL1.
Genevestigatori Q9BZE3.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of FKSG31, a novel gene encoding human BarH-like 1 protein."
    Wang Y.-G., Gong L.
    Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome."
    Gould D.B., Walter M.A.
    Am. J. Med. Genet. A 131:205-208(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Cerebellum.
  4. "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].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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].
    Tissue: Testis.
  7. "Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS."
    Bulfone A., Menguzzato E., Broccoli V., Marchitiello A., Gattuso C., Mariani M., Consalez G.G., Martinez S., Ballabio A., Banfi S.
    Hum. Mol. Genet. 9:1443-1452(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 157-327.

Entry informationi

Entry nameiBARH1_HUMAN
AccessioniPrimary (citable) accession number: Q9BZE3
Secondary accession number(s): Q5T6V2, Q9NY88
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 25, 2003
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 115 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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