MYF6_HUMAN
ID MYF6_HUMAN Reviewed; 242 AA.
AC P23409; B2R898; Q53X80; Q6FHI9;
DT 01-NOV-1991, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1991, sequence version 1.
DT 03-AUG-2022, entry version 192.
DE RecName: Full=Myogenic factor 6;
DE Short=Myf-6;
DE AltName: Full=Class C basic helix-loop-helix protein 4;
DE Short=bHLHc4;
DE AltName: Full=Muscle-specific regulatory factor 4;
GN Name=MYF6; Synonyms=BHLHC4, MRF4;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=2311584; DOI=10.1002/j.1460-2075.1990.tb08179.x;
RA Braun T., Bober E., Winter B., Rosenthal N., Arnold H.H.;
RT "Myf-6, a new member of the human gene family of myogenic determination
RT factors: evidence for a gene cluster on chromosome 12.";
RL EMBO J. 9:821-831(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P.,
RA Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y.,
RA LaBaer J.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP VARIANTS ASP-90 AND SER-112.
RA Kerst B., Perrot A., Osterziel K.-J., Huebner C., Speer A.;
RT "MYF6 mutations resulting in A112S and A90D substitutions in patients with
RT skeletal or cardiac muscle pathology.";
RL Hum. Mutat. 12:220-220(1998).
RN [8]
RP VARIANT SER-112.
RX PubMed=11053684; DOI=10.1016/s0960-8966(00)00150-4;
RA Kerst B., Mennerich D., Schuelke M., Stoltenburg-Didinger G., von Moers A.,
RA Gossrau R., van Landeghem F.K.H., Speer A., Braun T., Huebner C.;
RT "Heterozygous myogenic factor 6 mutation associated with myopathy and
RT severe course of Becker muscular dystrophy.";
RL Neuromuscul. Disord. 10:572-577(2000).
CC -!- FUNCTION: Involved in muscle differentiation (myogenic factor). Induces
CC fibroblasts to differentiate into myoblasts. Probable sequence specific
CC DNA-binding protein.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein. Interacts with CSRP3. {ECO:0000250|UniProtKB:P19335}.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Skeletal muscle.
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DR EMBL; X52011; CAA36260.1; -; mRNA.
DR EMBL; CR407641; CAG28569.1; -; mRNA.
DR EMBL; CR541763; CAG46563.1; -; mRNA.
DR EMBL; AK313287; BAG36095.1; -; mRNA.
DR EMBL; CH471054; EAW97367.1; -; Genomic_DNA.
DR EMBL; BC017834; AAH17834.1; -; mRNA.
DR CCDS; CCDS9019.1; -.
DR PIR; S12385; S12385.
DR RefSeq; NP_002460.1; NM_002469.2.
DR AlphaFoldDB; P23409; -.
DR SMR; P23409; -.
DR BioGRID; 110703; 14.
DR IntAct; P23409; 12.
DR MINT; P23409; -.
DR STRING; 9606.ENSP00000228641; -.
DR iPTMnet; P23409; -.
DR PhosphoSitePlus; P23409; -.
DR BioMuta; MYF6; -.
DR DMDM; 127630; -.
DR MassIVE; P23409; -.
DR PaxDb; P23409; -.
DR PeptideAtlas; P23409; -.
DR PRIDE; P23409; -.
DR ProteomicsDB; 54088; -.
DR Antibodypedia; 17294; 258 antibodies from 32 providers.
DR DNASU; 4618; -.
DR Ensembl; ENST00000228641.4; ENSP00000228641.3; ENSG00000111046.4.
DR GeneID; 4618; -.
DR KEGG; hsa:4618; -.
DR MANE-Select; ENST00000228641.4; ENSP00000228641.3; NM_002469.3; NP_002460.1.
DR UCSC; uc001szf.3; human.
DR CTD; 4618; -.
DR DisGeNET; 4618; -.
DR GeneCards; MYF6; -.
DR HGNC; HGNC:7566; MYF6.
DR HPA; ENSG00000111046; Group enriched (skeletal muscle, tongue).
DR MalaCards; MYF6; -.
DR MIM; 159991; gene.
DR neXtProt; NX_P23409; -.
DR OpenTargets; ENSG00000111046; -.
DR Orphanet; 169189; Autosomal dominant centronuclear myopathy.
DR PharmGKB; PA31364; -.
DR VEuPathDB; HostDB:ENSG00000111046; -.
DR eggNOG; KOG3960; Eukaryota.
DR GeneTree; ENSGT00950000182959; -.
DR HOGENOM; CLU_100258_0_0_1; -.
DR InParanoid; P23409; -.
DR OMA; SPCQDQI; -.
DR OrthoDB; 1471470at2759; -.
DR PhylomeDB; P23409; -.
DR TreeFam; TF316344; -.
DR PathwayCommons; P23409; -.
DR Reactome; R-HSA-525793; Myogenesis.
DR SignaLink; P23409; -.
DR SIGNOR; P23409; -.
DR BioGRID-ORCS; 4618; 11 hits in 1089 CRISPR screens.
DR GenomeRNAi; 4618; -.
DR Pharos; P23409; Tbio.
DR PRO; PR:P23409; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; P23409; protein.
DR Bgee; ENSG00000111046; Expressed in gluteal muscle and 107 other tissues.
DR Genevisible; P23409; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; TAS:ProtInc.
DR GO; GO:0090575; C:RNA polymerase II transcription regulator complex; ISS:BHF-UCL.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0042693; P:muscle cell fate commitment; ISS:BHF-UCL.
DR GO; GO:0060415; P:muscle tissue morphogenesis; IEA:Ensembl.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IEA:Ensembl.
DR GO; GO:0045663; P:positive regulation of myoblast differentiation; IBA:GO_Central.
DR GO; GO:0048743; P:positive regulation of skeletal muscle fiber development; IBA:GO_Central.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0035914; P:skeletal muscle cell differentiation; IBA:GO_Central.
DR GO; GO:0007519; P:skeletal muscle tissue development; TAS:ProtInc.
DR GO; GO:0001756; P:somitogenesis; IEA:Ensembl.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR002546; MyoD_N.
DR InterPro; IPR039704; Myogenic_factor.
DR PANTHER; PTHR11534; PTHR11534; 1.
DR Pfam; PF01586; Basic; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00520; BASIC; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Differentiation; Disease variant; DNA-binding;
KW Myogenesis; Nucleus; Reference proteome.
FT CHAIN 1..242
FT /note="Myogenic factor 6"
FT /id="PRO_0000127351"
FT DOMAIN 93..144
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 31..63
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 38..52
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 90
FT /note="A -> D (in dbSNP:rs138296448)"
FT /evidence="ECO:0000269|Ref.7"
FT /id="VAR_004493"
FT VARIANT 112
FT /note="A -> S (found in a patient with centronuclear
FT myopathy; also identified in a Becker muscular dystrophy
FT patient; unknown pathological significance;
FT dbSNP:rs28928909)"
FT /evidence="ECO:0000269|PubMed:11053684, ECO:0000269|Ref.7"
FT /id="VAR_004494"
FT CONFLICT 169
FT /note="P -> S (in Ref. 3; CAG46563)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 242 AA; 26953 MW; 33FA8E5E54317241 CRC64;
MMMDLFETGS YFFYLDGENV TLQPLEVAEG SPLYPGSDGT LSPCQDQMPP EAGSDSSGEE
HVLAPPGLQP PHCPGQCLIW ACKTCKRKSA PTDRRKAATL RERRRLKKIN EAFEALKRRT
VANPNQRLPK VEILRSAISY IERLQDLLHR LDQQEKMQEL GVDPFSYRPK QENLEGADFL
RTCSSQWPSV SDHSRGLVIT AKEGGASIDS SASSSLRCLS SIVDSISSEE RKLPCVEEVV
EK
