MYL1_HUMAN
ID MYL1_HUMAN Reviewed; 194 AA.
AC P05976; B2R4N6; B2R4T6; P06741; Q6IBD5;
DT 01-NOV-1988, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 3.
DT 03-AUG-2022, entry version 191.
DE RecName: Full=Myosin light chain 1/3, skeletal muscle isoform;
DE Short=MLC1/MLC3;
DE Short=MLC1F/MLC3F;
DE AltName: Full=Myosin light chain alkali 1/2;
DE Short=Myosin light chain A1/A2;
GN Name=MYL1;
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] (ISOFORMS MLC1 AND MLC3).
RC TISSUE=Fetal muscle;
RX PubMed=3601661; DOI=10.1093/nar/15.12.4989;
RA Seidel U., Bober E., Winter B., Lenz S., Lohse P., Arnold H.H.;
RT "The complete nucleotide sequences of cDNA clones coding for human myosin
RT light chains 1 and 3.";
RL Nucleic Acids Res. 15:4989-4989(1987).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS MLC1 AND MLC3).
RX PubMed=2458299; DOI=10.1016/0378-1119(88)90231-4;
RA Seidel U., Bober E., Winter B., Lenz S., Lohse P., Goedde H., Grzeschik K.,
RA Arnold H.H.;
RT "Alkali myosin light chains in man are encoded by a multigene family that
RT includes the adult skeletal muscle, the embryonic or atrial, and
RT nonsarcomeric isoforms.";
RL Gene 66:135-146(1988).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM MLC1).
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 (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS MLC1 AND MLC3).
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] (ISOFORM MLC3).
RC TISSUE=Liver;
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 NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-44.
RX PubMed=2777779; DOI=10.1016/s0021-9258(18)71593-7;
RA Seidel U., Arnold H.H.;
RT "Identification of the functional promoter regions in the human gene
RT encoding the myosin alkali light chains MLC1 and MLC3 of fast skeletal
RT muscle.";
RL J. Biol. Chem. 264:16109-16117(1989).
RN [8]
RP INVOLVEMENT IN MYOFTA, FUNCTION, VARIANT MYOFTA ARG-163, AND
RP CHARACTERIZATION OF VARIANT MYOFTA ARG-163.
RX PubMed=30215711; DOI=10.1093/hmg/ddy320;
RG UK10K Consortium;
RA Ravenscroft G., Zaharieva I.T., Bortolotti C.A., Lambrughi M.,
RA Pignataro M., Borsari M., Sewry C.A., Phadke R., Haliloglu G., Ong R.,
RA Goullee H., Whyte T., Manzur A., Talim B., Kaya U., Osborn D.P.S.,
RA Forrest A.R.R., Laing N.G., Muntoni F.;
RT "Bi-allelic mutations in MYL1 cause a severe congenital myopathy.";
RL Hum. Mol. Genet. 27:4263-4272(2018).
CC -!- FUNCTION: Non-regulatory myosin light chain required for proper
CC formation and/or maintenance of myofibers, and thus appropriate muscle
CC function. {ECO:0000269|PubMed:30215711}.
CC -!- SUBUNIT: Myosin is a hexamer of 2 heavy chains and 4 light chains. Does
CC not bind calcium. {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=MLC1;
CC IsoId=P05976-1; Sequence=Displayed;
CC Name=MLC3;
CC IsoId=P05976-2, P06741-1;
CC Sequence=VSP_038686;
CC -!- PTM: [Isoform MLC3]: Acetylated at position 2. {ECO:0000250}.
CC -!- DISEASE: Myopathy, congenital, with fast-twitch type II fiber atrophy
CC (MYOFTA) [MIM:618414]: An autosomal recessive congenital myopathy
CC characterized by decreased fetal movements, severe muscle weakness and
CC respiratory failure. Additional features include delayed motor
CC development, areflexia, facial weakness, normal eye movements, head
CC lag, and mild contractures. Skeletal muscle biopsy shows variation in
CC fiber size with atrophy of the fast-twitch type II fibers.
CC {ECO:0000269|PubMed:30215711}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; X05450; CAB42646.1; -; mRNA.
DR EMBL; X05451; CAA29020.1; -; mRNA.
DR EMBL; M20642; AAA59854.1; -; mRNA.
DR EMBL; M20643; AAA59855.1; -; mRNA.
DR EMBL; CR456869; CAG33150.1; -; mRNA.
DR EMBL; AK311942; BAG34883.1; -; mRNA.
DR EMBL; AK311892; BAG34833.1; -; mRNA.
DR EMBL; CH471063; EAW70483.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70484.1; -; Genomic_DNA.
DR EMBL; BC005318; AAH05318.1; -; mRNA.
DR EMBL; J05026; AAA66960.1; -; Genomic_DNA.
DR CCDS; CCDS2390.1; -. [P05976-1]
DR CCDS; CCDS2391.1; -. [P05976-2]
DR PIR; JS0431; MOHUA1.
DR PIR; S07939; MOHUA2.
DR RefSeq; NP_524144.1; NM_079420.2. [P05976-1]
DR RefSeq; NP_524146.1; NM_079422.2. [P05976-2]
DR AlphaFoldDB; P05976; -.
DR SMR; P05976; -.
DR BioGRID; 110716; 46.
DR IntAct; P05976; 13.
DR STRING; 9606.ENSP00000307280; -.
DR iPTMnet; P05976; -.
DR PhosphoSitePlus; P05976; -.
DR BioMuta; MYL1; -.
DR DMDM; 127128; -.
DR SWISS-2DPAGE; P05976; -.
DR EPD; P05976; -.
DR jPOST; P05976; -.
DR MassIVE; P05976; -.
DR MaxQB; P05976; -.
DR PaxDb; P05976; -.
DR PeptideAtlas; P05976; -.
DR PRIDE; P05976; -.
DR ProteomicsDB; 51863; -. [P05976-1]
DR ProteomicsDB; 51864; -. [P05976-2]
DR Antibodypedia; 20019; 221 antibodies from 26 providers.
DR DNASU; 4632; -.
DR Ensembl; ENST00000341685.8; ENSP00000343321.4; ENSG00000168530.16. [P05976-2]
DR Ensembl; ENST00000352451.4; ENSP00000307280.4; ENSG00000168530.16. [P05976-1]
DR GeneID; 4632; -.
DR KEGG; hsa:4632; -.
DR MANE-Select; ENST00000352451.4; ENSP00000307280.4; NM_079420.3; NP_524144.1.
DR UCSC; uc002veb.4; human. [P05976-1]
DR CTD; 4632; -.
DR DisGeNET; 4632; -.
DR GeneCards; MYL1; -.
DR HGNC; HGNC:7582; MYL1.
DR HPA; ENSG00000168530; Group enriched (skeletal muscle, tongue).
DR MalaCards; MYL1; -.
DR MIM; 160780; gene.
DR MIM; 618414; phenotype.
DR neXtProt; NX_P05976; -.
DR OpenTargets; ENSG00000168530; -.
DR Orphanet; 544602; Congenital myopathy with reduced type 2 muscle fibers.
DR PharmGKB; PA31379; -.
DR VEuPathDB; HostDB:ENSG00000168530; -.
DR eggNOG; KOG0030; Eukaryota.
DR GeneTree; ENSGT01030000234570; -.
DR HOGENOM; CLU_061288_13_0_1; -.
DR InParanoid; P05976; -.
DR OMA; VAKHDDK; -.
DR OrthoDB; 1470794at2759; -.
DR PhylomeDB; P05976; -.
DR TreeFam; TF351553; -.
DR PathwayCommons; P05976; -.
DR Reactome; R-HSA-390522; Striated Muscle Contraction.
DR SignaLink; P05976; -.
DR SIGNOR; P05976; -.
DR BioGRID-ORCS; 4632; 10 hits in 1068 CRISPR screens.
DR ChiTaRS; MYL1; human.
DR GeneWiki; MYL1; -.
DR GenomeRNAi; 4632; -.
DR Pharos; P05976; Tbio.
DR PRO; PR:P05976; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P05976; protein.
DR Bgee; ENSG00000168530; Expressed in skeletal muscle tissue of biceps brachii and 107 other tissues.
DR Genevisible; P05976; HS.
DR GO; GO:0043292; C:contractile fiber; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005859; C:muscle myosin complex; NAS:BHF-UCL.
DR GO; GO:0030016; C:myofibril; IDA:BHF-UCL.
DR GO; GO:0016460; C:myosin II complex; IBA:GO_Central.
DR GO; GO:0030017; C:sarcomere; NAS:BHF-UCL.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0008307; F:structural constituent of muscle; IMP:UniProtKB.
DR GO; GO:0006936; P:muscle contraction; IDA:BHF-UCL.
DR GO; GO:0030049; P:muscle filament sliding; NAS:BHF-UCL.
DR CDD; cd00051; EFh; 1.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR002048; EF_hand_dom.
DR SMART; SM00054; EFh; 2.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS50222; EF_HAND_2; 3.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Disease variant; Methylation;
KW Motor protein; Muscle protein; Myosin; Phosphoprotein; Reference proteome;
KW Repeat.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000250|UniProtKB:P02602"
FT CHAIN 2..194
FT /note="Myosin light chain 1/3, skeletal muscle isoform"
FT /id="PRO_0000198681"
FT DOMAIN 50..85
FT /note="EF-hand 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 127..162
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 162..194
FT /note="EF-hand 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REGION 1..35
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 17..31
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N,N,N-trimethylalanine"
FT /evidence="ECO:0000250|UniProtKB:P02602"
FT MOD_RES 71
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P02600"
FT MOD_RES 73
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P02600"
FT MOD_RES 87
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P02600"
FT MOD_RES 99
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P02600"
FT VAR_SEQ 1..53
FT /note="MAPKKDVKKPVAAAAAAPAPAPAPAPAPAPAKPKEEKIDLSAIKIEFSKEQQ
FT D -> MSFSADQIA (in isoform MLC3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:2458299,
FT ECO:0000303|PubMed:3601661"
FT /id="VSP_038686"
FT VARIANT 163
FT /note="M -> R (in MYOFTA; no protein detected by western
FT blot in patient muscle; dbSNP:rs1259220084)"
FT /evidence="ECO:0000269|PubMed:30215711"
FT /id="VAR_082312"
FT CONFLICT 45
FT /note="I -> M (in Ref. 1; CAB42646)"
FT /evidence="ECO:0000305"
FT INIT_MET P05976-2:1
FT /note="Removed"
FT /evidence="ECO:0000305"
FT MOD_RES P05976-2:2
FT /note="N-acetylalanine"
FT /evidence="ECO:0000305"
SQ SEQUENCE 194 AA; 21145 MW; DA1F5C5E4C8A2124 CRC64;
MAPKKDVKKP VAAAAAAPAP APAPAPAPAP AKPKEEKIDL SAIKIEFSKE QQDEFKEAFL
LFDRTGDSKI TLSQVGDVLR ALGTNPTNAE VRKVLGNPSN EELNAKKIEF EQFLPMMQAI
SNNKDQATYE DFVEGLRVFD KEGNGTVMGA ELRHVLATLG EKMKEEEVEA LMAGQEDSNG
CINYEAFVKH IMSI
