P23409 (MYF6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myogenic factor 6
Short name=Myf-6

Alternative name(s):
Class C basic helix-loop-helix protein 4
Short name=bHLHc4
Muscle-specific regulatory factor 4

Gene names

Name:	MYF6
Synonyms:	BHLHC4, MRF4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	242 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein.
Subcellular location	Nucleus.
Tissue specificity	Skeletal muscle.
Involvement in disease	Myopathy, centronuclear, 3 (CNM3) [MIM:614408]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Differentiation Myogenesis
Cellular component	Nucleus
Disease	Disease mutation
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	muscle cell fate commitment Inferred from sequence or structural similarity. Source: BHF-UCL muscle tissue morphogenesis Inferred from electronic annotation. Source: Compara negative regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: Compara positive regulation of muscle cell differentiation Traceable author statement. Source: Reactome positive regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: BHF-UCL skeletal muscle tissue development Traceable author statement Ref.1. Source: ProtInc skeletal muscle tissue regeneration Inferred from electronic annotation. Source: Compara somitogenesis Inferred from electronic annotation. Source: Compara
Cellular_component	nucleoplasm Traceable author statement. Source: Reactome
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW protein heterodimerization activity Inferred from sequence or structural similarity. Source: BHF-UCL sequence-specific DNA binding transcription factor activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 242	242	Myogenic factor 6		PRO_0000127351
Regions
	Domain	93 – 144	52	bHLH
Natural variations
	Natural variant	90	1	A → D in CNM3. Ref.7		VAR_004493
	Natural variant	112	1	A → S in CNM3; also identified in a Becker muscular dystrophy patient. Ref.7 Ref.8 Corresponds to variant rs28928909 [ dbSNP | Ensembl ].		VAR_004494
Experimental info
	Sequence conflict	169	1	P → S in CAG46563. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P23409 [UniParc]. Last modified November 1, 1991. Version 1. Checksum: 33FA8E5E54317241	FASTA	242	26,953
	10 20 30 40 50 60 MMMDLFETGS YFFYLDGENV TLQPLEVAEG SPLYPGSDGT LSPCQDQMPP EAGSDSSGEE 70 80 90 100 110 120 HVLAPPGLQP PHCPGQCLIW ACKTCKRKSA PTDRRKAATL RERRRLKKIN EAFEALKRRT 130 140 150 160 170 180 VANPNQRLPK VEILRSAISY IERLQDLLHR LDQQEKMQEL GVDPFSYRPK QENLEGADFL 190 200 210 220 230 240 RTCSSQWPSV SDHSRGLVIT AKEGGASIDS SASSSLRCLS SIVDSISSEE RKLPCVEEVV EK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Myf-6, a new member of the human gene family of myogenic determination factors: evidence for a gene cluster on chromosome 12." Braun T., Bober E., Winter B., Rosenthal N., Arnold H.H. EMBO J. 9:821-831(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"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: Skeletal muscle.
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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: Skeletal muscle.
[7]	"MYF6 mutations resulting in A112S and A90D substitutions in patients with skeletal or cardiac muscle pathology." Kerst B., Perrot A., Osterziel K.-J., Huebner C., Speer A. Hum. Mutat. 12:220-220(1998) Cited for: VARIANTS CNM3 ASP-90 AND SER-112.
[8]	"Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy." Kerst B., Mennerich D., Schuelke M., Stoltenburg-Didinger G., von Moers A., Gossrau R., van Landeghem F.K.H., Speer A., Braun T., Huebner C. Neuromuscul. Disord. 10:572-577(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CNM3 SER-112.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X52011 mRNA. Translation: CAA36260.1. CR407641 mRNA. Translation: CAG28569.1. CR541763 mRNA. Translation: CAG46563.1. AK313287 mRNA. Translation: BAG36095.1. CH471054 Genomic DNA. Translation: EAW97367.1. BC017834 mRNA. Translation: AAH17834.1.
IPI	IPI00011548.
PIR	S12385.
RefSeq	NP_002460.1. NM_002469.2.
UniGene	Hs.35937.
3D structure databases
ProteinModelPortal	P23409.
SMR	P23409. Positions 93-148.
ModBase	Search...
Protein-protein interaction databases
IntAct	P23409. 1 interaction.
STRING	9606.ENSP00000228641.
PTM databases
PhosphoSite	P23409.
Polymorphism databases
DMDM	127630.
Proteomic databases
PaxDb	P23409.
PRIDE	P23409.
Protocols and materials databases
DNASU	4618.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000228641; ENSP00000228641; ENSG00000111046.
GeneID	4618.
KEGG	hsa:4618.
UCSC	uc001szf.2. human.
Organism-specific databases
CTD	4618.
GeneCards	GC12P081076.
HGNC	HGNC:7566. MYF6.
MIM	159991. gene. 614408. phenotype.
neXtProt	NX_P23409.
Orphanet	169189. Autosomal dominant centronuclear myopathy.
PharmGKB	PA31364.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG309598.
HOGENOM	HOG000234799.
HOVERGEN	HBG006429.
InParanoid	P23409.
OMA	SDFLSTC.
OrthoDB	EOG43N7DQ.
PhylomeDB	P23409.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
SignaLink	P23409.
Gene expression databases
Bgee	P23409.
CleanEx	HS_MYF6.
Genevestigator	P23409.
GermOnline	ENSG00000111046. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR002546. Basic. IPR011598. bHLH_dom. [Graphical view]
Pfam	PF01586. Basic. 1 hit. PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00520. BASIC. 1 hit. SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4618.
NextBio	17776.
SOURCE	Search...

Entry information

Entry name

MYF6_HUMAN

Accession

Primary (citable) accession number: P23409
Secondary accession number(s): B2R898, Q53X80, Q6FHI9

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1991
Last sequence update:	November 1, 1991
Last modified:	May 29, 2013
This is version 127 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.