BHLHE41

Identifiers

BHLHE41, BHLHB3, DEC2, SHARP1, hDEC2, basic helix-loop-helix family member e41

External IDs

Gene ontology
Molecular function	• DNA binding • protein dimerization activity • protein homodimerization activity • MRF binding • transcription corepressor activity • histone deacetylase binding • transcriptional repressor activity, RNA polymerase II transcription factor binding • RNA polymerase II activating transcription factor binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding • bHLH transcription factor binding • E-box binding • protein binding • protein heterodimerization activity • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding • RNA polymerase II transcription factor activity, sequence-specific DNA binding
Cellular component	• nucleus
Biological process	• cell differentiation • regulation of transcription, DNA-templated • rhythmic process • negative regulation of transcription by competitive promoter binding • negative regulation of transcription from RNA polymerase II promoter • circadian regulation of gene expression • transcription, DNA-templated • negative regulation of myotube differentiation • animal organ morphogenesis • cell proliferation • negative regulation of transcription, DNA-templated • circadian rhythm
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


79365


n/a

Ensembl


ENSG00000123095


n/a

UniProt


Q9C0J9


n/a

RefSeq (mRNA)


NM_030762


n/a

RefSeq (protein)


NP_110389.1


n/a

Location (UCSC)

Chr 12: 26.12 – 26.13 Mb

n/a

PubMed search

^[1]

n/a

Wikidata

View/Edit Human

"Basic helix-loop-helix family, member e41", or BHLHE41, is a gene that encodes, as the name implies, a basic helix-loop-helix protein in various tissues of both humans and mice.^[2] ^[3]^[4]^[5]^[6] It also known as DEC2, hDEC2, and SHARP1, and was previously known as "basic helix-loop-helix domain containing, class B, 3", or BHLHB3.^[7]

Function

This gene encodes a transcription factor that belongs to the Hairy/Enhancer of Split subfamily of basic helix-loop-helix factors. The encoded protein functions as a transcriptional repressor and as a regulator of molecular clock.^[6]

In mice lacking SHARP1 and SHARP2, IGF-2 is elevated and so memory consolidation is enhanced.^[8]

Clinical significance

Defects in this gene are associated with the short sleep phenotype .^[6] A particular genetic variation in the gene affects sleep duration in humans, and introduction of the human gene into mice also reduces their sleep requirements. This genetic variation was discovered by Ying-Hui Fu's lab.^[9]^[10]

References

↑ "Human PubMed Reference:".
↑ "BHLHE41 basic helix-loop-helix family, member e41 [ Homo sapiens (human) ]". National Center for Biotechnology Information. Retrieved 2014-05-27.
↑ "Bhlhe41 basic helix-loop-helix family, member e41 [ Mus musculus (house mouse) ]". NCBI. Retrieved 2014-05-27.
↑ Fujimoto K, Shen M, Noshiro M, Matsubara K, Shingu S, Honda K, Yoshida E, Suardita K, Matsuda Y, Kato Y (February 2001). "Molecular cloning and characterization of DEC2, a new member of basic helix-loop-helix proteins". Biochem Biophys Res Commun. 280 (1): 164–71. doi:10.1006/bbrc.2000.4133. PMID 11162494.
↑ Stevens JD, Roalson EH, Skinner MK (December 2008). "Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation". Differentiation. 76 (9): 1006–22. doi:10.1111/j.1432-0436.2008.00285.x. PMID 18557763.
1 2 3 "Entrez Gene: BHLHB3 basic helix-loop-helix domain containing, class B, 3".
↑ "Basic Helix-Loop-Helix Family, Member E41". Weizmann Institute of Science. Archived from the original on 2014-05-28. Retrieved 2014-05-27.
↑ Shahmoradi A, Radyushkin K, Rossner MJ (22 June 2015). "Enhanced memory consolidation in mice lacking the circadian modulators Sharp1 and -2 caused by elevated Igf2 signaling in the cortex". Proc Natl Acad Sci U S A. 112: E3582–9. doi:10.1073/pnas.1423989112. PMID 26100875.
↑ He Y, Jones CR, Fujiki N, Xu Y, Guo B, Holder JL, Rossner MJ, Nishino S, Fu YH (August 2009). "The transcriptional repressor DEC2 regulates sleep length in mammals". Science. 325 (5942): 866–70. doi:10.1126/science.1174443. PMC 2884988. PMID 19679812.
↑ Pellegrino, R; Kavakli, I. H.; Goel, N; Cardinale, C. J.; Dinges, D. F.; Kuna, S. T.; Maislin, G; Van Dongen, H. P.; Tufik, S; Hogenesch, J. B.; Hakonarson, H; Pack, A. I. (2014). "A Novel BHLHE41 Variant is Associated with Short Sleep and Resistance to Sleep Deprivation in Humans". Sleep. 37 (8): 1327–36. doi:10.5665/sleep.3924. PMC 4096202. PMID 25083013.

Grottke C, Mantwill K, Dietel M, et al. (2000). "Identification of differentially expressed genes in human melanoma cells with acquired resistance to various antineoplastic drugs.". Int. J. Cancer. 88 (4): 535–46. doi:10.1002/1097-0215(20001115)88:4<535::AID-IJC4>3.0.CO;2-V. PMID 11058868.
Garriga-Canut M, Roopra A, Buckley NJ (2001). "The basic helix-loop-helix protein, sharp-1, represses transcription by a histone deacetylase-dependent and histone deacetylase-independent mechanism.". J. Biol. Chem. 276 (18): 14821–8. doi:10.1074/jbc.M011619200. PMID 11278948.
Miyazaki K, Kawamoto T, Tanimoto K, et al. (2003). "Identification of functional hypoxia response elements in the promoter region of the DEC1 and DEC2 genes.". J. Biol. Chem. 277 (49): 47014–21. doi:10.1074/jbc.M204938200. PMID 12354771.
Honma S, Kawamoto T, Takagi Y, et al. (2002). "Dec1 and Dec2 are regulators of the mammalian molecular clock.". Nature. 419 (6909): 841–4. doi:10.1038/nature01123. PMID 12397359.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Li Y, Xie M, Song X, et al. (2003). "DEC1 negatively regulates the expression of DEC2 through binding to the E-box in the proximal promoter.". J. Biol. Chem. 278 (19): 16899–907. doi:10.1074/jbc.M300596200. PMID 12624110.
Azmi S, Sun H, Ozog A, Taneja R (2003). "mSharp-1/DEC2, a basic helix-loop-helix protein functions as a transcriptional repressor of E box activity and Stra13 expression.". J. Biol. Chem. 278 (22): 20098–109. doi:10.1074/jbc.M210427200. PMID 12657651.
Oswald F, Winkler M, Cao Y, et al. (2005). "RBP-Jkappa/SHARP recruits CtIP/CtBP corepressors to silence Notch target genes.". Mol. Cell. Biol. 25 (23): 10379–90. doi:10.1128/MCB.25.23.10379-10390.2005. PMC 1291242. PMID 16287852.

Transcription factors and intracellular receptors

(1) Basic domains

(1.1) Basic leucine zipper (bZIP)	Activating transcription factor AATF 1 2 3 4 5 6 7 AP-1 c-Fos FOSB FOSL1 FOSL2 JDP2 c-Jun JUNB JunD BACH 1 2 BATF BLZF1 C/EBP α β γ δ ε ζ CREB 1 3 L1 CREM DBP DDIT3 GABPA HLF MAF B F G K NFE 2 L1 L2 L3 NFIL3 NRL NRF 1 2 3 XBP1

(1.2) Basic helix-loop-helix (bHLH)	ATOH1 AhR AHRR ARNT ASCL1 BHLH 2 3 9 ARNTL ARNTL ARNTL2 CLOCK EPAS1 FIGLA HAND 1 2 HES 5 6 HEY 1 2 L HES1 HIF 1A 3A ID 1 2 3 4 LYL1 MESP2 MXD4 MYCL1 MYCN Myogenic regulatory factors MyoD Myogenin MYF5 MYF6 Neurogenins 1 2 3 NeuroD 1 2 NPAS 1 2 3 OLIG 1 2 Pho4 Scleraxis SIM 1 2 TAL 1 2 Twist USF1

(1.3) bHLH-ZIP	AP-4 MAX MXD3 MITF MNT MLX MXI1 Myc SREBP 1 2

(1.4) NF-1	NFI A B C X SMAD R-SMAD 1 2 3 5 9 I-SMAD 6 7 4)

(1.5) RF-X	RFX 1 2 3 4 5 6 ANK

(1.6) Basic helix-span-helix (bHSH)	AP-2 α β γ δ ε

(2) Zinc finger DNA-binding domains

(2.1) Nuclear receptor (Cys₄)

subfamily 1	Thyroid hormone α β CAR FXR LXR α β PPAR α β/δ γ PXR RAR α β γ ROR α β γ Rev-ErbA α β VDR

subfamily 2	COUP-TF (I II Ear-2 HNF4 α γ PNR RXR α β γ Testicular receptor 2 4 TLX

subfamily 3	Steroid hormone Androgen Estrogen α β Glucocorticoid Mineralocorticoid Progesterone Estrogen related α β γ

subfamily 4	NUR NGFIB NOR1 NURR1

subfamily 5	LRH-1 SF1

subfamily 6	GCNF

subfamily 0	DAX1 SHP

(2.2) Other Cys₄

GATA
- 1
- 2
- 3
- 4
- 5
- 6
MTA
- 1
- 2
- 3
TRPS1

(2.3) Cys₂His₂

General transcription factors
- TFIIA
- TFIIB
- TFIID
- TFIIE
  - 1
  - 2
- TFIIF
- 1
- 2
  - TFIIH
  - 1
  - 2
  - 4
  - 2I
  - 3A
  - 3C1
  - 3C2

ATBF1
BCL
- 6
- 11A
- 11B
CTCF
E4F1
EGR
- 1
- 2
- 3
- 4
ERV3
GFI1
GLI-Krüppel family
- 1
- 2
- 3
- REST
- S1
- S2
- YY1
HIC
- 1
- 2
HIVEP
- 1
- 2
- 3
IKZF
- 1
- 2
- 3
ILF
- 2
- 3
KLF
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
- 10
- 11
- 12
- 13
- 14
- 15
- 17
MTF1
MYT1
OSR1
PRDM9
SALL
- 1
- 2
- 3
- 4
SP
- 1
- 2
- 4
- 7
- 8
TSHZ3
WT1
Zbtb7
- 7A
- 7B
ZBTB
- 11
- 16
- 17
- 20
- 32
- 33
- 40
zinc finger
- 3
- 7
- 9
- 10
- 19
- 22
- 24
- 33B
- 34
- 35
- 41
- 43
- 44
- 51
- 74
- 143
- 146
- 148
- 165
- 202
- 217
- 219
- 238
- 239
- 259
- 267
- 268
- 281
- 295
- 300
- 318
- 330
- 346
- 350
- 365
- 366
- 384
- 423
- 451
- 452
- 471
- 593
- 638
- 644
- 649
- 655

(2.4) Cys₆

HIVEP1

(2.5) Alternating composition

AIRE
DIDO1
GRLF1
ING
- 1
- 2
- 4
JARID
- 1A
- 1B
- 1C
- 1D
- 2
JMJD1B

(2.6) WRKY

WRKY

(3) Helix-turn-helix domains

(3.1) Homeodomain	ARX CDX 1 2 CRX CUTL1 DBX 1 2 DLX 3 4 5 EMX 1 2 EN 1 2 FHL 1 2 3 HESX1 HHEX HLX Homeobox A1 A2 A3 A4 A5 A7 A9 A10 A11 A13 B1 B2 B3 B4 B5 B6 B7 B8 B9 B13 C4 C5 C6 C8 C9 C10 C11 C12 C13 D1 D3 D4 D8 D9 D10 D11 D12 D13 HOPX IRX 1 2 3 4 5 6 MKX LMX 1A 1B MEIS 1 2 MEOX2 MNX1 MSX 1 2 NANOG NKX 2-1 2-2 2-3 2-5 3-1 3-2 6-1 6-2 NOBOX PBX 1 2 3 PHF 1 3 6 8 10 16 17 20 21A PHOX 2A 2B PITX 1 2 3 POU domain PIT-1 BRN-3: A B C Octamer transcription factor: 1 2 3/4 6 7 11 OTX 1 2 PDX1 SATB2 SHOX2 SIX 1 2 3 4 5 VAX1 ZEB 1 2

(3.2) Paired box	PAX 1 2 3 4 5 6 7 8 9 PRRX 1 2 RAX

(3.3) Fork head / winged helix	E2F 1 2 3 4 5 FOX proteins A1 A2 A3 C1 C2 D3 D4 E1 E3 F1 G1 H1 I1 J1 J2 K1 K2 L2 M1 N1 N3 O1 O3 O4 P1 P2 P3 P4

(3.4) Heat shock factors	HSF 1 2 4

(3.5) Tryptophan clusters	ELF 2 4 5 EGF ELK 1 3 4 ERF ETS 1 2 ERG SPIB ETV 1 4 5 6 FLI1 Interferon regulatory factors 1 2 3 4 5 6 7 8 MYB MYBL2

(3.6) TEA domain	transcriptional enhancer factor 1 2 3 4

(4) β-Scaffold factors with minor groove contacts

(4.1) Rel homology region	NF-κB NFKB1 NFKB2 REL RELA RELB NFAT C1 C2 C3 C4 5

(4.2) STAT	STAT 1 2 3 4 5 6

(4.3) p53	p53 TBX 1 2 3 5 19 21 22 TBR1 TBR2 TFT MYRF TP63

(4.4) MADS box	Mef2 A B C D SRF

(4.6) TATA-binding proteins	TBP TBPL1

(4.7) High-mobility group	BBX HMGB 1 2 3 4 HMGN 1 2 3 4 HNF 1A 1B LEF1 SOX 1 2 3 4 5 6 8 9 10 11 12 13 14 15 18 21 SRY SSRP1 TCF 3 4 TOX 1 2 3 4

(4.9) Grainyhead	TFCP2

(4.10) Cold-shock domain	CSDA YBX1

(4.11) Runt	CBF CBFA2T2 CBFA2T3 RUNX1 RUNX2 RUNX3 RUNX1T1

(0) Other transcription factors

(0.2) HMGI(Y)	HMGA 1 2 HBP1

(0.3) Pocket domain	Rb RBL1 RBL2

(0.5) AP-2/EREBP-related factors	Apetala 2 EREBP B3

(0.6) Miscellaneous	ARID 1A 1B 2 3A 3B 4A CAP IFI 16 35 MLL 2 3 T1 MNDA NFY A B C Rho/Sigma

see also transcription factor/coregulator deficiencies

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article is issued from Wikipedia - version of the 10/23/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.

BHLHE41

Function

Clinical significance

References

Further reading