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Q8NFJ8

- BHE22_HUMAN

UniProt

Q8NFJ8 - BHE22_HUMAN

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Protein

Class E basic helix-loop-helix protein 22

Gene

BHLHE22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity).By similarity

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: Ensembl

GO - Biological processi

  1. anterior commissure morphogenesis Source: Ensembl
  2. cerebral cortex regionalization Source: Ensembl
  3. corpus callosum morphogenesis Source: Ensembl
  4. corticospinal tract morphogenesis Source: Ensembl
  5. negative regulation of transcription, DNA-templated Source: Ensembl
  6. retinal bipolar neuron differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Class E basic helix-loop-helix protein 22
Short name:
bHLHe22
Alternative name(s):
Class B basic helix-loop-helix protein 5
Short name:
bHLHb5
Trinucleotide repeat-containing gene 20 protein
Gene namesi
Name:BHLHE22
Synonyms:BHLHB5, TNRC20
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:11963. BHLHE22.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36650.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 381381Class E basic helix-loop-helix protein 22PRO_0000274285Add
BLAST

Proteomic databases

PaxDbiQ8NFJ8.
PRIDEiQ8NFJ8.

PTM databases

PhosphoSiteiQ8NFJ8.

Expressioni

Tissue specificityi

Brain-specific, with the highest expression in the cerebellum.1 Publication

Gene expression databases

BgeeiQ8NFJ8.
GenevestigatoriQ8NFJ8.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000318799.

Structurei

3D structure databases

ProteinModelPortaliQ8NFJ8.
SMRiQ8NFJ8. Positions 244-305.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini242 – 29655bHLHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi56 – 605Poly-Ser
Compositional biasi72 – 225154Gly-richAdd
BLAST
Compositional biasi208 – 23427Ser-richAdd
BLAST
Compositional biasi315 – 35743Ala-richAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG308077.
GeneTreeiENSGT00530000063239.
InParanoidiQ8NFJ8.
KOiK09086.
OMAiMERGMHL.
OrthoDBiEOG7GQXWR.
PhylomeDBiQ8NFJ8.
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.

Q8NFJ8-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MERGMHLGAA AAGEDDLFLH KSLSASTSKR LEAAFRSTPP GMDLSLAPPP
60 70 80 90 100
RERPASSSSS PLGCFEPADP EGAGLLLPPP GGGGGGSAGS GGGGGGGVGV
110 120 130 140 150
PGLLVGSAGV GGDPSLSSLP AGAALCLKYG ESASRGSVAE SSGGEQSPDD
160 170 180 190 200
DSDGRCELVL RAGVADPRAS PGAGGGGAKA AEGCSNAHLH GGASVPPGGL
210 220 230 240 250
GGGGGGGSSS GSSGGGGGSG SGSGGSSSSS SSSSKKSKEQ KALRLNINAR
260 270 280 290 300
ERRRMHDLND ALDELRAVIP YAHSPSVRKL SKIATLLLAK NYILMQAQAL
310 320 330 340 350
EEMRRLVAYL NQGQAISAAS LPSSAAAAAA AAALHPALGA YEQAAGYPFS
360 370 380
AGLPPAASCP EKCALFNSVS SSLCKQCTEK P
Length:381
Mass (Da):36,997
Last modified:October 1, 2002 - v1
Checksum:i7B17A9BD5C7F8569
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti28 – 281S → A.
Corresponds to variant rs7016250 [ dbSNP | Ensembl ].
VAR_061255

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF504925 Genomic DNA. Translation: AAM28881.1.
BK000273 mRNA. Translation: DAA01053.1.
CCDSiCCDS6179.1.
RefSeqiNP_689627.1. NM_152414.4.
UniGeneiHs.388788.
Hs.591870.
Hs.745052.

Genome annotation databases

EnsembliENST00000321870; ENSP00000318799; ENSG00000180828.
GeneIDi27319.
KEGGihsa:27319.
UCSCiuc003xvi.3. human.

Polymorphism databases

DMDMi74751284.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF504925 Genomic DNA. Translation: AAM28881.1 .
BK000273 mRNA. Translation: DAA01053.1 .
CCDSi CCDS6179.1.
RefSeqi NP_689627.1. NM_152414.4.
UniGenei Hs.388788.
Hs.591870.
Hs.745052.

3D structure databases

ProteinModelPortali Q8NFJ8.
SMRi Q8NFJ8. Positions 244-305.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000318799.

PTM databases

PhosphoSitei Q8NFJ8.

Polymorphism databases

DMDMi 74751284.

Proteomic databases

PaxDbi Q8NFJ8.
PRIDEi Q8NFJ8.

Protocols and materials databases

DNASUi 27319.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000321870 ; ENSP00000318799 ; ENSG00000180828 .
GeneIDi 27319.
KEGGi hsa:27319.
UCSCi uc003xvi.3. human.

Organism-specific databases

CTDi 27319.
GeneCardsi GC08P065492.
H-InvDB HIX0007544.
HGNCi HGNC:11963. BHLHE22.
MIMi 613483. gene.
neXtProti NX_Q8NFJ8.
PharmGKBi PA36650.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG308077.
GeneTreei ENSGT00530000063239.
InParanoidi Q8NFJ8.
KOi K09086.
OMAi MERGMHL.
OrthoDBi EOG7GQXWR.
PhylomeDBi Q8NFJ8.
TreeFami TF322733.

Miscellaneous databases

GenomeRNAii 27319.
NextBioi 50328.
PROi Q8NFJ8.
SOURCEi Search...

Gene expression databases

Bgeei Q8NFJ8.
Genevestigatori Q8NFJ8.

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

  1. "Functional and structural characterization of the human gene BHLHB5, encoding a basic helix-loop-helix transcription factor."
    Xu Z.-P., Dutra A., Stellrecht C.M., Wu C., Piatigorsky J., Saunders G.F.
    Genomics 80:311-318(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
  2. "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 nameiBHE22_HUMAN
AccessioniPrimary (citable) accession number: Q8NFJ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 90 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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3