MYF6

Identifiers

MYF6, CNM3, MRF4, bHLHc4, myf-6, Myf6, myogenic factor 6

External IDs

MGI: 97253 HomoloGene: 1850 GeneCards: MYF6

Gene ontology
Molecular function	• DNA binding • protein dimerization activity • transcription factor activity, sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • E-box binding • protein heterodimerization activity • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
Cellular component	• nucleoplasm • RNA polymerase II transcription factor complex • nucleus
Biological process	• somitogenesis • cell differentiation • regulation of transcription, DNA-templated • positive regulation of muscle cell differentiation • regulation of transcription from RNA polymerase II promoter • muscle cell fate commitment • muscle organ development • transcription from RNA polymerase II promoter • positive regulation of skeletal muscle fiber development • multicellular organism development • positive regulation of transcription, DNA-templated • positive regulation of myoblast fusion • skeletal muscle tissue regeneration • positive regulation of myoblast differentiation • muscle tissue morphogenesis • skeletal muscle cell differentiation • negative regulation of transcription, DNA-templated • skeletal muscle tissue development • positive regulation of transcription from RNA polymerase II promoter
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


4618


17878

Ensembl


ENSG00000111046


ENSMUSG00000035923

UniProt


P23409


P15375

RefSeq (mRNA)


NM_002469


NM_008657

RefSeq (protein)


NP_002460.1


NP_032683.1

Location (UCSC)

Chr 12: 80.71 – 80.71 Mb

Chr 10: 107.49 – 107.49 Mb

PubMed search

^[1]

^[2]

Wikidata

View/Edit Human

View/Edit Mouse

Myogenic factor 6 (herculin) is a protein that in humans is encoded by the MYF6 gene. ^[3] Also known in the medical literature as MRF4 and herculin), MYF6 is a myogenic regulatory factor (MRF) in the process known as myogenesis.^[4]^[5]

Function

MYF6 is a member of the myogenic factors (MYF) family that regulate myogenesis and muscle regeneration. Myogenic factor are basic helix-loop-helix (bHLH) transcription factors. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM).

Clinical significance

Mutations in the MYF6 gene are associated with myopathy.^[6]

References

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ "Entrez Gene: Myogenic factor 6 (herculin)". Retrieved 2013-08-19.
↑ Braun T, Bober E, Winter B, Rosenthal N, Arnold HH (March 1990). "Myf-6, a new member of the human gene family of myogenic determination factors: evidence for a gene cluster on chromosome 12". EMBO J. 9 (3): 821–31. PMC 551742. PMID 2311584.
↑ Cupelli L, Renault B, Leblanc-Straceski J, Banks A, Ward D, Kucherlapati RS, Krauter K (1996). "Assignment of the human myogenic factors 5 and 6 (MYF5, MYF6) gene cluster to 12q21 by in situ hybridization and physical mapping of the locus between D12S350 and D12S106". Cytogenet. Cell Genet. 72 (2–3): 250–1. doi:10.1159/000134201. PMID 8978788.
↑ Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, Hübner C (December 2000). "Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy". Neuromuscul. Disord. 10 (8): 572–7. doi:10.1016/S0960-8966(00)00150-4. PMID 11053684.

Braun, T.; Arnold, H. H. (1991). "The four human muscle regulatory helix-loop-helix proteins Myf3-Myf6 exhibit similar hetero-dimerization and DNA binding properties". Nucleic Acids Research. 19 (20): 5645–5651. doi:10.1093/nar/19.20.5645. PMC 328970. PMID 1945842.
Langlands, K.; Yin, X.; Anand, G.; Prochownik, E. V. (1997). "Differential interactions of Id proteins with basic-helix-loop-helix transcription factors". The Journal of Biological Chemistry. 272 (32): 19785–19793. doi:10.1074/jbc.272.32.19785. PMID 9242638.
Kong, Y.; Flick, M. J.; Kudla, A. J.; Konieczny, S. F. (1997). "Muscle LIM protein promotes myogenesis by enhancing the activity of MyoD". Molecular and Cellular Biology. 17 (8): 4750–4760. doi:10.1128/mcb.17.8.4750. PMC 232327. PMID 9234731.
Onions, J.; Hermann, S.; Grundström, T. (2000). "A novel type of calmodulin interaction in the inhibition of basic helix-loop-helix transcription factors". Biochemistry. 39 (15): 4366–4374. doi:10.1021/bi992533u. PMID 10757985.
Cupelli, L.; Renault, B.; Leblanc-Straceski, J.; Banks, A.; Ward, D.; Kucherlapati, R. S.; Krauter, K. (1996). "Assignment of the human myogenic factors 5 and 6 (MYF5, MYF6) gene cluster to 12q21 by in situ hybridization and physical mapping of the locus between D12S350 and D12S106". Cytogenetics and cell genetics. 72 (2–3): 250–251. doi:10.1159/000134201. PMID 8978788.
Kosek, D. J.; Kim, J. S.; Petrella, J. K.; Cross, J. M.; Bamman, M. M. (2006). "Efficacy of 3 days/wk resistance training on myofiber hypertrophy and myogenic mechanisms in young vs. Older adults". Journal of Applied Physiology. 101 (2): 531–544. doi:10.1152/japplphysiol.01474.2005. PMID 16614355.
Black, B. L.; Molkentin, J. D.; Olson, E. N. (1998). "Multiple roles for the MyoD basic region in transmission of transcriptional activation signals and interaction with MEF2". Molecular and Cellular Biology. 18 (1): 69–77. doi:10.1128/mcb.18.1.69. PMC 121453. PMID 9418854.
Braun, T.; Bober, E.; Winter, B.; Rosenthal, N.; Arnold, H. H. (1990). "Myf-6, a new member of the human gene family of myogenic determination factors: Evidence for a gene cluster on chromosome 12". The EMBO Journal. 9 (3): 821–831. PMC 551742. PMID 2311584.
Kerst, B.; Mennerich, D.; Schuelke, M.; Stoltenburg-Didinger, G.; Von Moers, A.; Gossrau, R.; Van Landeghem, F. K.; Speer, A.; Braun, T.; Hübner, C. (2000). "Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy". Neuromuscular disorders : NMD. 10 (8): 572–577. doi:10.1016/S0960-8966(00)00150-4. PMID 11053684.

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

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 is issued from Wikipedia - version of the 6/3/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.

MYF6

Function

Clinical significance

References

Further reading