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Protein

BarH-like 1 homeobox protein

Gene

BARHL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

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
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 Curated

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 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.
GeneTreeiENSGT00780000121835.
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

        10         20         30         40         50
MEGSNGFGID SILSHRAGSP ALPKGDPLLG DCRSPLELSP RSESSSDCSS
60 70 80 90 100
PASPGRDCLE TGTPRPGGAS GPGLDSHLQP GQLSAPAQSR TVTSSFLIRD
110 120 130 140 150
ILADCKPLAA CAPYSSSGQP AAPEPGGRLA AKAAEDFRDK LDKSGSNASS
160 170 180 190 200
DSEYKVKEEG DREISSSRDS PPVRLKKPRK ARTAFTDHQL AQLERSFERQ
210 220 230 240 250
KYLSVQDRME LAASLNLTDT QVKTWYQNRR TKWKRQTAVG LELLAEAGNY
260 270 280 290 300
SALQRMFPSP YFYPQSLVSN LDPGAALYLY RGPSAPPPAL QRPLVPRILI
310 320
HGLQGASEPP PPLPPLAGVL PRAAQPR
Length:327
Mass (Da):35,074
Last modified:June 1, 2001 - v1
Checksum:i5BFCE201BC6359D6
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9BZE3.
SMRiQ9BZE3. Positions 155-238.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121195. 3 interactions.
STRINGi9606.ENSP00000263610.

PTM databases

PhosphoSiteiQ9BZE3.

Polymorphism databases

DMDMi29336920.

Proteomic databases

PaxDbiQ9BZE3.
PRIDEiQ9BZE3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi56751.
GeneCardsiGC09P135457.
HGNCiHGNC:953. BARHL1.
HPAiHPA004809.
MIMi605211. gene.
neXtProtiNX_Q9BZE3.
PharmGKBiPA25257.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG263484.
GeneTreeiENSGT00780000121835.
HOGENOMiHOG000231533.
HOVERGENiHBG050663.
InParanoidiQ9BZE3.
KOiK09360.
OMAiDCLETGA.
OrthoDBiEOG79GT7B.
PhylomeDBiQ9BZE3.
TreeFamiTF316128.

Miscellaneous databases

GenomeRNAii56751.
NextBioi62212.
PROiQ9BZE3.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BZE3.
CleanExiHS_BARHL1.
GenevestigatoriQ9BZE3.

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]
ProtoNetiSearch...

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: February 4, 2015
This is version 120 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.