MYL1

MYL1

Identifiers

MYL1, MLC1F, MLC3F, myosin light chain 1, MYOFTA, MLC1, MLC1/3, MLC-1

External IDs

OMIM: 160780 MGI: 97269 HomoloGene: 23194 GeneCards: MYL1

Gene location (Human)

Chr.	Chromosome 2 (human)^[1]

Band	2q34	Start	210,290,150 bp^[1]
Band	2q34	End	210,315,174 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 1 (mouse)^[2]

Band	1 C3\|1 33.71 cM	Start	66,963,454 bp^[2]
Band	1 C3\|1 33.71 cM	End	66,984,563 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

body of tongue

gastrocnemius muscle

triceps brachii muscle

tibialis anterior muscle

thoracic diaphragm

quadriceps femoris muscle

vastus lateralis muscle

deltoid muscle

superior surface of tongue

spongy bone

Top expressed in

quadriceps femoris muscle

skeletal muscle tissue

zone of skin

esophagus

white adipose tissue

synovial joint

ankle joint

heart

tongue

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	calcium ion binding structural constituent of muscle
Cellular component	contractile fiber cytosol muscle myosin complex myofibril sarcomere myosin complex
Biological process	muscle contraction cardiac muscle contraction muscle filament sliding
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


4632


17901

Ensembl


ENSG00000168530


ENSMUSG00000061816

UniProt


P05976


P05977

RefSeq (mRNA)


NM_079422 NM_079420


NM_001113387 NM_021285

RefSeq (protein)


NP_524144 NP_524146


NP_001106858 NP_067260

Location (UCSC)

Chr 2: 210.29 – 210.32 Mb

Chr 1: 66.96 – 66.98 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Myosin light chain 3, skeletal muscle isoform is a protein that in humans is encoded by the MYL1 gene.^[5]^[6]^[7]

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene.^[7]

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References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000168530 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000061816 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Hailstones DL, Gunning PW (Mar 1990). "Characterization of human myosin light chains 1sa and 3nm: implications for isoform evolution and function". Mol Cell Biol. 10 (3): 1095–104. doi:10.1128/mcb.10.3.1095. PMC 360973. PMID 2304459.
^ Cohen-Haguenauer O, Barton PJ, Nguyen VC, Serero S, Gross MS, Jegou-Foubert C, de Tand MF, Robert B, Buckingham M, Frezal J (Mar 1988). "Assignment of the human fast skeletal muscle myosin alkali light chains gene (MLC1F/MLC3F) to 2q 32.1-2qter". Hum Genet. 78 (1): 65–70. doi:10.1007/BF00291237. PMID 3422212. S2CID 24782863.
^ ^a ^b "Entrez Gene: MYL1 myosin, light chain 1, alkali; skeletal, fast".

Kelly RG, Buckingham ME (2000). "Modular regulation of the MLC1F/3F gene and striated muscle diversity". Microsc. Res. Tech. 50 (6): 510–21. doi:10.1002/1097-0029(20000915)50:6<510::AID-JEMT8>3.0.CO;2-1. PMID 10998640. S2CID 26959819.
Seidel U, Bober E, Winter B, et al. (1988). "Alkali myosin light chains in man are encoded by a multigene family that includes the adult skeletal muscle, the embryonic or atrial, and nonsarcomeric isoforms". Gene. 66 (1): 135–46. doi:10.1016/0378-1119(88)90231-4. PMID 2458299.
Seidel U, Arnold HH (1989). "Identification of the functional promoter regions in the human gene encoding the myosin alkali light chains MLC1 and MLC3 of fast skeletal muscle". J. Biol. Chem. 264 (27): 16109–17. doi:10.1016/S0021-9258(18)71593-7. PMID 2777779.
Seidel U, Bober E, Winter B, et al. (1987). "The complete nucleotide sequences of cDNA clones coding for human myosin light chains 1 and 3". Nucleic Acids Res. 15 (12): 4989. doi:10.1093/nar/15.12.4989. PMC 305934. PMID 3601661.
Kontrogianni-Konstantopoulos A, Huang SC, Benz EJ (2001). "A Nonerythroid Isoform of Protein 4.1R Interacts with Components of the Contractile Apparatus in Skeletal Myofibers". Mol. Biol. Cell. 11 (11): 3805–17. doi:10.1091/mbc.11.11.3805. PMC 15038. PMID 11071908.
Ballweber E, Galla M, Aktories K, et al. (2001). "Interaction of ADP-ribosylated actin with actin binding proteins". FEBS Lett. 508 (1): 131–5. doi:10.1016/S0014-5793(01)03040-X. PMID 11707283. S2CID 7241702.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

Proteins of the cytoskeleton

Human

Microfilaments
and ABPs

Myofilament

Actins	A1 A2 B C1 G1 G2
Myosins	I MYO1A MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO1H) II MYH1 MYH2 MYH3 MYH4 MYH6 MYH7 MYH7B MYH8 MYH9 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 III MYO3A MYO3B V MYO5A MYO5B MYO5C VI MYO6 VII MYO7A MYO7B IX MYO9A MYO9B X MYO10 XV MYO15A XVIII MYO18A MYO18B LC MYL1 MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLIP MYLK MYLK2 MYLL1
Other	Tropomodulin 1 2 3 4 Troponin T 1 2 3 C 1 2 I 1 2 3 Tropomyosin 1 2 3 4 Actinin 1 2 3 4 Arp2/3 complex actin depolymerizing factors Cofilin 1 2 Destrin Gelsolin Profilin 1 2 Titin

Other

Intermediate
filaments

Type 1/2
(Keratin,
Cytokeratin)

Epithelial keratins (soft alpha-keratins)	type I/chromosome 17 9 10 12 13 14 15 16 17 19 20 chromosome 12 18 none 21 type II/chromosome 12 1 2A 3 4 5 6A 6B 6C 7 8
Hair keratins (hard alpha-keratins)	type I/chromosome 17 31 32 33A 33B 34 35 36 37 38 type II/chromosome 12 81 82 83 84 85 86
Ungrouped alpha	chromosome 17 23 24 25 26 27 28 39 40 chromosome 12 71 72 73 74 75 76 77 78 79 80
Not alpha	Beta-keratin

Type 3

Type 4

Type 5

Microtubules
and MAPs

Tubulins	TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB2C TUBB3 TUBB4 TUBB4Q TUBB6 TUBB8 TUBG1 TUBG2 TUBGCP2 TUBGCP3 TUBGCP4 TUBGCP5 TUBGCP6 TUBD1 TUBE1
MAPs	EB1 EB2 EB3 MAP1A MAP1B MAP2 MAP4
Kinesins	KIF1A KIF1B KIF2A KIF2C KIF3B KIF3C KIF4A KIF4B KIF5A KIF5B KIF5C KIF6 KIF7 KIF9 KIF11 KIF12 KIF13A KIF13B KIF14 KIF15 KIF16B KIF17 KIF18A KIF18B KIF19 KIF20A KIF20B KIF21A KIF21B KIF22 KIF23 KIF24 KIF25 KIF26A KIF26B KIF27 KIFC1 KIFC2 KIFC3
Dyneins	axonemal: DNAH1 DNAH2 DNAH3 DNAH5 DNAH6 DNAH7 DNAH8 DNAH9 DNAH10 DNAH11 DNAH12 DNAH13 DNAH14 DNAH17 DNAI1 DNAI2 DNALI1 DNAL1 DNAL4 cytoplasmic: DYNC1H1 DYNC2H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNC2LI1 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT1 DYNLT3
Microtubule organising proteins	CAMSAP1 CAMSAP2 CAMSAP3 Centrin 1 Centrin 2 Centrin 3 PCM1
Microtubule severing proteins	Katanin Spastin
Other	Tau protein Dynactin DCTN1 Stathmin Tektin TEKT1 TEKT2 TEKT3 TEKT4 TEKT5 Dynamin DNM1 DNM2 DNM3

Catenins

Membrane

Dystrophin
- Dystroglycan
Utrophin
Ankyrin
- ANK1
- ANK2
- ANK3
Spectrin
- SPTA1
- SPTAN1
- SPTB
- SPTBN1
- SPTBN2
- SPTBN4
- SPTBN5

Other

Plakins
- Corneodesmosin
- Desmoplakin
- Dystonin
- Envoplakin
- MACF1
- Periplakin
- Plectin
Talin
- TLN1
Vinculin
Plakophilin
- PKP1
- PKP2
ACF7
PLEKHA7

Nonhuman

See also: cytoskeletal defects

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 1 December 2023, at 01:57

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References

Further reading