MYL5_HUMAN
ID MYL5_HUMAN Reviewed; 173 AA.
AC Q02045; Q8IXL8;
DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-1993, sequence version 1.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Myosin light chain 5;
DE AltName: Full=Myosin regulatory light chain 5;
DE AltName: Full=Superfast myosin regulatory light chain 2;
DE Short=MYLC2;
DE Short=MyLC-2;
GN Name=MYL5;
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] (ISOFORM 1).
RX PubMed=1284596;
RA Collins C.C., Schappert K.T., Hayden M.R.;
RT "The genomic organization of a novel regulatory myosin light chain gene
RT (MYL5) that maps to chromosome 4p16.3 and shows different patterns of
RT expression between primates.";
RL Hum. Mol. Genet. 1:727-733(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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).
CC -!- SUBUNIT: Myosin is a hexamer of 2 heavy chains and 4 light chains.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q02045-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q02045-2; Sequence=VSP_026448;
CC -!- TISSUE SPECIFICITY: Expressed in fetal skeletal muscle and retina.
CC -!- MISCELLANEOUS: This chain binds calcium. {ECO:0000250}.
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DR EMBL; L03785; AAA59890.1; -; mRNA.
DR EMBL; BC040050; AAH40050.1; -; mRNA.
DR CCDS; CCDS43197.1; -. [Q02045-1]
DR CCDS; CCDS87196.1; -. [Q02045-2]
DR PIR; I54328; I54328.
DR RefSeq; NP_002468.1; NM_002477.1. [Q02045-1]
DR RefSeq; XP_016863734.1; XM_017008245.1. [Q02045-1]
DR RefSeq; XP_016863735.1; XM_017008246.1. [Q02045-1]
DR RefSeq; XP_016863736.1; XM_017008247.1.
DR RefSeq; XP_016863737.1; XM_017008248.1.
DR AlphaFoldDB; Q02045; -.
DR SMR; Q02045; -.
DR BioGRID; 110720; 5.
DR IntAct; Q02045; 2.
DR STRING; 9606.ENSP00000383023; -.
DR iPTMnet; Q02045; -.
DR PhosphoSitePlus; Q02045; -.
DR BioMuta; MYL5; -.
DR DMDM; 400266; -.
DR MassIVE; Q02045; -.
DR PaxDb; Q02045; -.
DR PeptideAtlas; Q02045; -.
DR PRIDE; Q02045; -.
DR ProteomicsDB; 58033; -. [Q02045-1]
DR ProteomicsDB; 58034; -. [Q02045-2]
DR Antibodypedia; 22136; 76 antibodies from 22 providers.
DR DNASU; 4636; -.
DR Ensembl; ENST00000400159.6; ENSP00000383023.2; ENSG00000215375.6. [Q02045-1]
DR Ensembl; ENST00000505477.5; ENSP00000423118.1; ENSG00000215375.6. [Q02045-2]
DR Ensembl; ENST00000506838.5; ENSP00000427153.1; ENSG00000215375.6. [Q02045-2]
DR Ensembl; ENST00000511290.5; ENSP00000425162.1; ENSG00000215375.6. [Q02045-2]
DR GeneID; 4636; -.
DR KEGG; hsa:4636; -.
DR MANE-Select; ENST00000400159.7; ENSP00000383023.2; NM_002477.2; NP_002468.1.
DR UCSC; uc003gav.4; human. [Q02045-1]
DR CTD; 4636; -.
DR DisGeNET; 4636; -.
DR GeneCards; MYL5; -.
DR HGNC; HGNC:7586; MYL5.
DR HPA; ENSG00000215375; Tissue enhanced (retina).
DR MIM; 160782; gene.
DR neXtProt; NX_Q02045; -.
DR OpenTargets; ENSG00000215375; -.
DR PharmGKB; PA31383; -.
DR VEuPathDB; HostDB:ENSG00000215375; -.
DR eggNOG; KOG0031; Eukaryota.
DR GeneTree; ENSGT00940000163023; -.
DR HOGENOM; CLU_061288_9_4_1; -.
DR InParanoid; Q02045; -.
DR OMA; QMFQFAT; -.
DR OrthoDB; 1435392at2759; -.
DR PhylomeDB; Q02045; -.
DR TreeFam; TF314218; -.
DR PathwayCommons; Q02045; -.
DR Reactome; R-HSA-445355; Smooth Muscle Contraction.
DR SignaLink; Q02045; -.
DR BioGRID-ORCS; 4636; 11 hits in 1077 CRISPR screens.
DR ChiTaRS; MYL5; human.
DR GenomeRNAi; 4636; -.
DR Pharos; Q02045; Tbio.
DR PRO; PR:Q02045; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q02045; protein.
DR Bgee; ENSG00000215375; Expressed in mucosa of transverse colon and 139 other tissues.
DR ExpressionAtlas; Q02045; baseline and differential.
DR Genevisible; Q02045; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005859; C:muscle myosin complex; TAS:ProtInc.
DR GO; GO:0005509; F:calcium ion binding; IBA:GO_Central.
DR GO; GO:0008307; F:structural constituent of muscle; TAS:ProtInc.
DR GO; GO:0006937; P:regulation of muscle contraction; TAS:ProtInc.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR Pfam; PF00036; EF-hand_1; 1.
DR Pfam; PF13202; EF-hand_5; 1.
DR SMART; SM00054; EFh; 2.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS00018; EF_HAND_1; 1.
DR PROSITE; PS50222; EF_HAND_2; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Metal-binding; Motor protein;
KW Muscle protein; Myosin; Reference proteome; Repeat.
FT CHAIN 1..173
FT /note="Myosin light chain 5"
FT /id="PRO_0000198745"
FT DOMAIN 30..65
FT /note="EF-hand 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 100..135
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 136..171
FT /note="EF-hand 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 43
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 45
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 47
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 54
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT VAR_SEQ 1..41
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026448"
FT VARIANT 88
FT /note="F -> S (in dbSNP:rs2228354)"
FT /id="VAR_050459"
SQ SEQUENCE 173 AA; 19534 MW; 79615F658A68157F CRC64;
MASRKTKKKE GGALRAQRAS SNVFSNFEQT QIQEFKEAFT LMDQNRDGFI DKEDLKDTYA
SLGKTNVKDD ELDAMLKEAS GPINFTMFLN LFGEKLSGTD AEETILNAFK MLDPDGKGKI
NKEYIKRLLM SQADKMTAEE VDQMFQFASI DVAGNLDYKA LSYVITHGEE KEE
