AiPD: Autoinhibited Protein Database

O14950

Gene name	MYL12B (MRLC2, MYLC2B)
Protein name	Myosin regulatory light chain 12B
Names	MLC-2A, MLC-2, Myosin regulatory light chain 2-B, smooth muscle isoform, Myosin regulatory light chain 20 kDa, MLC20, Myosin regulatory light chain MRLC2, SHUJUN-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:103910
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-55 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-55 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for O14950

Entry ID	Method	Resolution	Chain	Position	Source
AF-O14950-F1	Predicted				AlphaFoldDB

77 variants for O14950

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA401729013 COSM988110 rs1329281395	2	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1598808900 CA401729034	5	K>R		No	ClinGen Ensembl
rs1487706235 CA401729040	6	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777799038 CA8875554	8	T>P		No	ClinGen ExAC TOPMed gnomAD
CA295658456 rs1802516	12	K>N		No	ClinGen TOPMed gnomAD
rs747544799 CA8875555	12	K>R		No	ClinGen ExAC gnomAD
CA401729085 rs1401407257	13	K>*		No	ClinGen gnomAD
rs771417538 CA401729094	14	R>H		No	ClinGen ExAC gnomAD
CA8875556 rs771417538	14	R>L		No	ClinGen ExAC gnomAD
CA8875557 rs776870278	17	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8875558 rs759875301	17	R>H		No	ClinGen ExAC
COSM1611200 rs770046423 CA8875559	19	T>A	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs774115495 CA8875560	21	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	22	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8875561 rs761538443	25	M>V		No	ClinGen ExAC gnomAD
rs1289859872 CA401729210	31	I>M		No	ClinGen gnomAD
TCGA novel	33	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	34	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1486690989 CA401729253	37	A>D		No	ClinGen TOPMed gnomAD
CA8875563 rs749915134	37	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1486690989 CA401729255	37	A>V		No	ClinGen TOPMed gnomAD
CA401729323 rs1179562110	46	D>G		No	ClinGen TOPMed
rs766283418 CA8875565	53	D>G		No	ClinGen ExAC gnomAD
rs1567991425 CA401729379	54	L>M		No	ClinGen Ensembl
rs754868863 CA8875567	57	M>R		No	ClinGen ExAC gnomAD
rs752956376 CA8875569 COSM3821389	59	A>V	Variant assessed as Somatic; 4.644e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	60	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295658949 rs937291945	67	D>E		No	ClinGen Ensembl
rs1802791 CA295658950	69	Y>*		No	ClinGen Ensembl
rs1360365526 CA401729516	72	A>D		No	ClinGen gnomAD
CA295658951 rs112139766	75	N>D		No	ClinGen Ensembl
rs1452780295 CA401729555	77	A>V		No	ClinGen gnomAD
rs1365181274 CA401729576	81	I>V		No	ClinGen gnomAD
rs758630223 CA8875588	92	E>*		No	ClinGen ExAC gnomAD
rs1598811050 COSM438088 CA401729696	98	D>Y	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1325723338 CA401729756	106	A>S		No	ClinGen gnomAD
rs781113839 CA8875592	108	A>G		No	ClinGen ExAC gnomAD
rs1247504514 CA401729787	110	F>L		No	ClinGen gnomAD
rs1463435071 CA401729792	111	D>A		No	ClinGen gnomAD
TCGA novel	112	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1190464509 CA401729808	113	E>A		No	ClinGen gnomAD
rs757394502 CA8875609	118	I>V		No	ClinGen ExAC gnomAD
rs1181051890 CA401729859	119	Q>R		No	ClinGen gnomAD
CA401729907 rs750424875	126	L>M		No	ClinGen ExAC gnomAD
CA401729915 rs756660047	127	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756660047 CA8875613	127	L>R		No	ClinGen ExAC gnomAD
CA8875614 rs780643023	129	T>A		No	ClinGen ExAC gnomAD
rs755451961 CA8875617	130	M>I		No	ClinGen ExAC gnomAD
CA401729930 rs1213344837	130	M>T		No	ClinGen TOPMed
rs754392092 CA8875615	130	M>V		No	ClinGen ExAC TOPMed gnomAD
rs779389811 CA401729949	133	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8875619 rs746706309	133	R>Q		No	ClinGen ExAC gnomAD
CA401729948 rs779389811	133	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8875620 rs144447000	134	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs780766492 CA8875621	139	V>L		No	ClinGen ExAC gnomAD
rs745305853 CA8875622	140	D>V		No	ClinGen ExAC gnomAD
VAR_046371 rs14720 CA295658993	141	E>G		No	ClinGen UniProt Ensembl dbSNP
CA8875623 rs769286250	143	Y>C		No	ClinGen ExAC gnomAD
rs368473981 CA8875624	144	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1181980879 CA401730039	146	A>V		No	ClinGen gnomAD
rs762850695 CA401730043	147	P>H		No	ClinGen ExAC TOPMed gnomAD
CA8875625 rs762850695	147	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1161997970 CA401730047	148	I>T		No	ClinGen gnomAD
rs768484024 CA8875626	148	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1425732385 CA401730063	150	K>R		No	ClinGen gnomAD
rs762119358 CA8875628	151	K>R		No	ClinGen ExAC gnomAD
rs1393372255 CA401730092	154	F>C		No	ClinGen TOPMed gnomAD
CA401730100 rs1329550019	155	N>S		No	ClinGen TOPMed gnomAD
CA8875629 rs373604604	157	I>M		No	ClinGen ExAC TOPMed gnomAD
CA401730112 rs1339979149	157	I>V		No	ClinGen gnomAD
rs766982930 CA8875631	161	R>C		No	ClinGen ExAC TOPMed gnomAD
CA401730142 rs1266248680	161	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA295658996 rs901460428	162	I>F		No	ClinGen Ensembl
CA295658997 rs1010172054	164	K>Q		No	ClinGen Ensembl
CA8875633 rs111915417	165	H>R		No	ClinGen ExAC gnomAD
CA401730163 rs1567993111	165	H>Y		No	ClinGen Ensembl
rs1567993119 CA401730183	168	K>E		No	ClinGen Ensembl

No associated diseases with O14950

4 regional properties for O14950

Type	Name	Position	InterPro Accession
domain	EF-hand domain	29 - 77	IPR002048-1
domain	EF-hand domain	98 - 133	IPR002048-2
domain	DJBP, EF-hand domain	102 - 160	IPR015070
binding_site	EF-Hand 1, calcium-binding site	42 - 54	IPR018247

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
apical part of cell	The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue.
brush border	The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell.
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
myofibril	The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism.
myosin II complex	A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures.
stress fiber	A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber.
Z disc	Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

2 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
myosin heavy chain binding	Binding to a heavy chain of a myosin complex.

1 GO annotations of biological process

Name	Definition
regulation of cell shape	Any process that modulates the surface configuration of a cell.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5E9E2	MYL9	Myosin regulatory light polypeptide 9	Bos taurus (Bovine)	PR
P19105	MYL12A	Myosin regulatory light chain 12A	Homo sapiens (Human)	PR
Q9BUA6	MYL10	Myosin regulatory light chain 10	Homo sapiens (Human)	PR
Q62082	Myl10	Myosin regulatory light chain 10	Mus musculus (Mouse)	PR
P51667	Myl2	Myosin regulatory light chain 2, ventricular/cardiac muscle isoform	Mus musculus (Mouse)	PR
P97457	Myl11	Myosin regulatory light chain 11	Mus musculus (Mouse)	PR
Q3THE2	Myl12b	Myosin regulatory light chain 12B	Mus musculus (Mouse)	PR
P13832	Rlc-a	Myosin regulatory light chain RLC-A	Rattus norvegicus (Rat)	PR
P18666	Myl12b	Myosin regulatory light chain 12B	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSSKKAKTKT	TKKRPQRATS	NVFAMFDQSQ	IQEFKEAFNM	IDQNRDGFID	KEDLHDMLAS
70	80	90	100	110	120
LGKNPTDAYL	DAMMNEAPGP	INFTMFLTMF	GEKLNGTDPE	DVIRNAFACF	DEEATGTIQE
130	140	150	160	170
DYLRELLTTM	GDRFTDEEVD	ELYREAPIDK	KGNFNYIEFT	RILKHGAKDK	DD