Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9BZE3

- BARH1_HUMAN

UniProt

Q9BZE3 - BARH1_HUMAN

Protein

BarH-like 1 homeobox protein

Gene

BARHL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi178 – 23760HomeoboxPROSITE-ProRule annotationAdd
    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

    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

    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 Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    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 proteinPRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    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...
    MobiDBi 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

    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: October 1, 2014
    This is version 116 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