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   24-JAN-2024, entry version 200.
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; 15.
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; 9606-ENSP00000228641; -.
DR   PeptideAtlas; P23409; -.
DR   ProteomicsDB; 54088; -.
DR   Antibodypedia; 17294; 288 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   AGR; HGNC:7566; -.
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; 5392786at2759; -.
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 1167 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 cell types or tissues.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0072686; C:mitotic spindle; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
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 DNA-templated transcription; 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   CDD; cd18934; bHLH_TS_MRF4_Myf6; 1.
DR   Gene3D; 4.10.280.10; Helix-loop-helix DNA-binding domain; 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; MYOGENIC FACTOR; 1.
DR   PANTHER; PTHR11534:SF4; MYOGENIC FACTOR 6; 1.
DR   Pfam; PF01586; Basic; 1.
DR   Pfam; PF00010; HLH; 1.
DR   SMART; SM00520; BASIC; 1.
DR   SMART; SM00353; HLH; 1.
DR   SUPFAM; SSF47459; HLH, helix-loop-helix DNA-binding domain; 1.
DR   PROSITE; PS50888; BHLH; 1.
DR   Genevisible; P23409; HS.
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 patients with muscular disease;
FT                   uncertain significance; 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
//