MYF5_HUMAN
ID MYF5_HUMAN Reviewed; 255 AA.
AC P13349; Q6ISR9;
DT 01-JAN-1990, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 182.
DE RecName: Full=Myogenic factor 5;
DE Short=Myf-5;
DE AltName: Full=Class C basic helix-loop-helix protein 2;
DE Short=bHLHc2;
GN Name=MYF5; Synonyms=BHLHC2;
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], FUNCTION, AND SUBUNIT.
RC TISSUE=Skeletal muscle;
RX PubMed=2721498; DOI=10.1002/j.1460-2075.1989.tb03429.x;
RA Braun T., Buschhausen-Denker G., Bober E., Tannich E., Arnold H.H.;
RT "A novel human muscle factor related to but distinct from MyoD1 induces
RT myogenic conversion in 10T1/2 fibroblasts.";
RL EMBO J. 8:701-709(1989).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-10.
RA Thompson D.B.;
RL Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP INVOLVEMENT IN EORVA, VARIANT EORVA CYS-95, FUNCTION, SUBCELLULAR LOCATION,
RP AND CHARACTERIZATION OF VARIANT EORVA CYS-95.
RX PubMed=29887215; DOI=10.1016/j.ajhg.2018.05.003;
RA Di Gioia S.A., Shaaban S., Tueysuez B., Elcioglu N.H., Chan W.M.,
RA Robson C.D., Ecklund K., Gilette N.M., Hamzaoglu A., Tayfun G.A.,
RA Traboulsi E.I., Engle E.C.;
RT "Recessive MYF5 mutations cause external ophthalmoplegia, rib, and
RT vertebral anomalies.";
RL Am. J. Hum. Genet. 103:115-124(2018).
CC -!- FUNCTION: Transcriptional activator that promotes transcription of
CC muscle-specific target genes and plays a role in muscle differentiation
CC (PubMed:29887215). Together with MYOG and MYOD1, co-occupies muscle-
CC specific gene promoter core region during myogenesis. Induces
CC fibroblasts to differentiate into myoblasts. Probable sequence specific
CC DNA-binding protein. {ECO:0000269|PubMed:2721498,
CC ECO:0000269|PubMed:29887215}.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein. {ECO:0000269|PubMed:2721498}.
CC -!- INTERACTION:
CC P13349; X5D778: ANKRD11; NbExp=3; IntAct=EBI-17491620, EBI-17183751;
CC P13349; P29972: AQP1; NbExp=3; IntAct=EBI-17491620, EBI-745213;
CC P13349; Q9NWQ9: C14orf119; NbExp=3; IntAct=EBI-17491620, EBI-725606;
CC P13349; Q8IYE1: CCDC13; NbExp=3; IntAct=EBI-17491620, EBI-10961312;
CC P13349; Q9UKJ5: CHIC2; NbExp=3; IntAct=EBI-17491620, EBI-741528;
CC P13349; Q9H0I2: ENKD1; NbExp=5; IntAct=EBI-17491620, EBI-744099;
CC P13349; Q9H5Z6-2: FAM124B; NbExp=3; IntAct=EBI-17491620, EBI-11986315;
CC P13349; Q6QHK4: FIGLA; NbExp=3; IntAct=EBI-17491620, EBI-11976617;
CC P13349; P41134: ID1; NbExp=5; IntAct=EBI-17491620, EBI-1215527;
CC P13349; Q02535: ID3; NbExp=3; IntAct=EBI-17491620, EBI-1387094;
CC P13349; P16144-2: ITGB4; NbExp=3; IntAct=EBI-17491620, EBI-11051601;
CC P13349; A6NI15: MSGN1; NbExp=3; IntAct=EBI-17491620, EBI-11991020;
CC P13349; Q02577: NHLH2; NbExp=3; IntAct=EBI-17491620, EBI-5378683;
CC P13349; Q8N7B6-2: PACRGL; NbExp=3; IntAct=EBI-17491620, EBI-10694433;
CC P13349; Q13526: PIN1; NbExp=3; IntAct=EBI-17491620, EBI-714158;
CC P13349; P13631: RARG; NbExp=3; IntAct=EBI-17491620, EBI-2568901;
CC P13349; Q7RTU7: SCX; NbExp=3; IntAct=EBI-17491620, EBI-17492262;
CC P13349; Q96ES7: SGF29; NbExp=5; IntAct=EBI-17491620, EBI-743117;
CC P13349; O75971-2: SNAPC5; NbExp=3; IntAct=EBI-17491620, EBI-12004298;
CC P13349; Q8N8B7-2: TCEANC; NbExp=3; IntAct=EBI-17491620, EBI-11955057;
CC P13349; Q08117-2: TLE5; NbExp=3; IntAct=EBI-17491620, EBI-11741437;
CC P13349; P15622-3: ZNF250; NbExp=3; IntAct=EBI-17491620, EBI-10177272;
CC P13349; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-17491620, EBI-740727;
CC P13349; Q86XF7: ZNF575; NbExp=3; IntAct=EBI-17491620, EBI-14069183;
CC P13349; Q96SQ5: ZNF587; NbExp=5; IntAct=EBI-17491620, EBI-6427977;
CC P13349; Q9Y2P0: ZNF835; NbExp=3; IntAct=EBI-17491620, EBI-5667516;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29887215}.
CC -!- DISEASE: Ophthalmoplegia, external, with rib and vertebral anomalies
CC (EORVA) [MIM:618155]: An autosomal recessive disorder characterized by
CC congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis,
CC torticollis, and vertebral and rib anomalies.
CC {ECO:0000269|PubMed:29887215}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; X14894; CAA33025.1; -; mRNA.
DR EMBL; CH471054; EAW97368.1; -; Genomic_DNA.
DR EMBL; BC069373; AAH69373.1; -; mRNA.
DR EMBL; U27313; AAA69824.1; -; Genomic_DNA.
DR CCDS; CCDS9020.1; -.
DR PIR; S04105; S04105.
DR RefSeq; NP_005584.2; NM_005593.2.
DR AlphaFoldDB; P13349; -.
DR SMR; P13349; -.
DR BioGRID; 110702; 29.
DR IntAct; P13349; 26.
DR STRING; 9606.ENSP00000228644; -.
DR iPTMnet; P13349; -.
DR PhosphoSitePlus; P13349; -.
DR BioMuta; MYF5; -.
DR DMDM; 215274028; -.
DR PaxDb; P13349; -.
DR PeptideAtlas; P13349; -.
DR PRIDE; P13349; -.
DR Antibodypedia; 17297; 472 antibodies from 37 providers.
DR DNASU; 4617; -.
DR Ensembl; ENST00000228644.4; ENSP00000228644.3; ENSG00000111049.4.
DR GeneID; 4617; -.
DR KEGG; hsa:4617; -.
DR MANE-Select; ENST00000228644.4; ENSP00000228644.3; NM_005593.3; NP_005584.2.
DR UCSC; uc001szg.3; human.
DR CTD; 4617; -.
DR DisGeNET; 4617; -.
DR GeneCards; MYF5; -.
DR HGNC; HGNC:7565; MYF5.
DR HPA; ENSG00000111049; Group enriched (skeletal muscle, tongue).
DR MalaCards; MYF5; -.
DR MIM; 159990; gene.
DR MIM; 618155; phenotype.
DR neXtProt; NX_P13349; -.
DR OpenTargets; ENSG00000111049; -.
DR PharmGKB; PA31363; -.
DR VEuPathDB; HostDB:ENSG00000111049; -.
DR eggNOG; KOG3960; Eukaryota.
DR GeneTree; ENSGT00950000182959; -.
DR HOGENOM; CLU_066887_1_0_1; -.
DR InParanoid; P13349; -.
DR OMA; MAECNSP; -.
DR OrthoDB; 1471470at2759; -.
DR PhylomeDB; P13349; -.
DR TreeFam; TF316344; -.
DR PathwayCommons; P13349; -.
DR Reactome; R-HSA-525793; Myogenesis.
DR SignaLink; P13349; -.
DR SIGNOR; P13349; -.
DR BioGRID-ORCS; 4617; 11 hits in 1088 CRISPR screens.
DR GenomeRNAi; 4617; -.
DR Pharos; P13349; Tbio.
DR PRO; PR:P13349; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; P13349; protein.
DR Bgee; ENSG00000111049; Expressed in biceps brachii and 26 other tissues.
DR Genevisible; P13349; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
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: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:0043010; P:camera-type eye development; IEA:Ensembl.
DR GO; GO:0001502; P:cartilage condensation; IEA:Ensembl.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IEA:Ensembl.
DR GO; GO:0030198; P:extracellular matrix organization; IEA:Ensembl.
DR GO; GO:0042693; P:muscle cell fate commitment; ISS:BHF-UCL.
DR GO; GO:0007517; P:muscle organ development; TAS:ProtInc.
DR GO; GO:0060415; P:muscle tissue morphogenesis; IEA:Ensembl.
DR GO; GO:0001503; P:ossification; 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:0001952; P:regulation of cell-matrix adhesion; IEA:Ensembl.
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; IPR022032; Myf5.
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 Pfam; PF12232; Myf5; 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 Activator; Developmental protein; Differentiation; Disease variant;
KW DNA-binding; Myogenesis; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..255
FT /note="Myogenic factor 5"
FT /id="PRO_0000127344"
FT DOMAIN 83..134
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT VARIANT 95
FT /note="R -> C (in EORVA; decreased transcriptional activity
FT and impaired nuclear localization; dbSNP:rs1565864693)"
FT /evidence="ECO:0000269|PubMed:29887215"
FT /id="VAR_081557"
FT CONFLICT 241
FT /note="A -> R (in Ref. 1; CAA33025)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 255 AA; 28296 MW; 62F00454C729BE66 CRC64;
MDVMDGCQFS PSEYFYDGSC IPSPEGEFGD EFVPRVAAFG AHKAELQGSD EDEHVRAPTG
HHQAGHCLMW ACKACKRKST TMDRRKAATM RERRRLKKVN QAFETLKRCT TTNPNQRLPK
VEILRNAIRY IESLQELLRE QVENYYSLPG QSCSEPTSPT SNCSDGMPEC NSPVWSRKSS
TFDSIYCPDV SNVYATDKNS LSSLDCLSNI VDRITSSEQP GLPLQDLASL SPVASTDSQP
ATPGASSSRL IYHVL
