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Q8NDY6

- BHE23_HUMAN

UniProt

Q8NDY6 - BHE23_HUMAN

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Protein

Class E basic helix-loop-helix protein 23

Gene

BHLHE23

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

Functioni

May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation By similarity.By similarity

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. regulation of transcription, DNA-templated Source: UniProtKB-KW
  2. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Class E basic helix-loop-helix protein 23
Short name:
bHLHe23
Alternative name(s):
Class B basic helix-loop-helix protein 4
Short name:
bHLHb4
Gene namesi
Name:BHLHE23
Synonyms:BHLHB4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:16093. BHLHE23.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164716615.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 225225Class E basic helix-loop-helix protein 23PRO_0000245526Add
BLAST

Proteomic databases

PaxDbiQ8NDY6.
PRIDEiQ8NDY6.

PTM databases

PhosphoSiteiQ8NDY6.

Expressioni

Gene expression databases

BgeeiQ8NDY6.
GenevestigatoriQ8NDY6.

Organism-specific databases

HPAiHPA030575.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000359371.

Structurei

3D structure databases

ProteinModelPortaliQ8NDY6.
SMRiQ8NDY6. Positions 100-158.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini100 – 15455bHLHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi78 – 11235Arg-richAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG308077.
GeneTreeiENSGT00530000063239.
HOGENOMiHOG000060094.
HOVERGENiHBG065837.
InParanoidiQ8NDY6.
KOiK09086.
OMAiLPGCPEK.
OrthoDBiEOG7GQXWR.
PhylomeDBiQ8NDY6.
TreeFamiTF322733.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8NDY6-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAELKSLSGD AYLALSHGYA AAAAGLAYGA AREPEAARGY GTPGPGGDLP
60 70 80 90 100
AAPAPRAPAQ AAESSGEQSG DEDDAFEQRR RRRGPGSAAD GRRRPREQRS
110 120 130 140 150
LRLSINARER RRMHDLNDAL DGLRAVIPYA HSPSVRKLSK IATLLLAKNY
160 170 180 190 200
ILMQAQALDE MRRLVAFLNQ GQGLAAPVNA APLTPFGQAT VCPFSAGAAL
210 220
GPCPDKCAAF SGTPSALCKH CHEKP
Length:225
Mass (Da):23,665
Last modified:October 1, 2002 - v1
Checksum:i77B5720A3CE42E85
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL121673 Genomic DNA. Translation: CAD37449.1.
CH471077 Genomic DNA. Translation: EAW75311.1.
BC137288 mRNA. Translation: AAI37289.1.
BC137308 mRNA. Translation: AAI37309.1.
BK000274 mRNA. Translation: DAA01054.1.
RefSeqiNP_542173.2. NM_080606.3.
UniGeneiHs.551230.

Genome annotation databases

EnsembliENST00000370346; ENSP00000359371; ENSG00000125533.
GeneIDi128408.
KEGGihsa:128408.
UCSCiuc002yeb.2. human.

Polymorphism databases

DMDMi74751238.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL121673 Genomic DNA. Translation: CAD37449.1 .
CH471077 Genomic DNA. Translation: EAW75311.1 .
BC137288 mRNA. Translation: AAI37289.1 .
BC137308 mRNA. Translation: AAI37309.1 .
BK000274 mRNA. Translation: DAA01054.1 .
RefSeqi NP_542173.2. NM_080606.3.
UniGenei Hs.551230.

3D structure databases

ProteinModelPortali Q8NDY6.
SMRi Q8NDY6. Positions 100-158.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000359371.

PTM databases

PhosphoSitei Q8NDY6.

Polymorphism databases

DMDMi 74751238.

Proteomic databases

PaxDbi Q8NDY6.
PRIDEi Q8NDY6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000370346 ; ENSP00000359371 ; ENSG00000125533 .
GeneIDi 128408.
KEGGi hsa:128408.
UCSCi uc002yeb.2. human.

Organism-specific databases

CTDi 128408.
GeneCardsi GC20M061637.
HGNCi HGNC:16093. BHLHE23.
HPAi HPA030575.
MIMi 609331. gene.
neXtProti NX_Q8NDY6.
PharmGKBi PA164716615.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG308077.
GeneTreei ENSGT00530000063239.
HOGENOMi HOG000060094.
HOVERGENi HBG065837.
InParanoidi Q8NDY6.
KOi K09086.
OMAi LPGCPEK.
OrthoDBi EOG7GQXWR.
PhylomeDBi Q8NDY6.
TreeFami TF322733.

Miscellaneous databases

GenomeRNAii 128408.
NextBioi 82341.
PROi Q8NDY6.
SOURCEi Search...

Gene expression databases

Bgeei Q8NDY6.
Genevestigatori Q8NDY6.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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].
  4. "Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening."
    McLellan A.S., Langlands K., Kealey T.
    Mech. Dev. 119:S285-S291(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.

Entry informationi

Entry nameiBHE23_HUMAN
AccessioniPrimary (citable) accession number: Q8NDY6
Secondary accession number(s): B2RP69
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 91 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 20
    Human chromosome 20: 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