MYBPC1 - myosin binding protein C1 Gene

Also Known as LCCS4; MYBPCC; MYBPCS; MYOTREM; ssMyBP-C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4604

About MYBPC1

Cytogenetic location: 12q23.2 Genomic coordinates (GRCh38): 12:101,594,971-101,695,841 (from NCBI)

This gene has 24 transcripts (splice variants), 213 orthologues, 11 paralogues and is associated with 8 phenotypes. Biased expression in prostate (RPKM 75.7), esophagus (RPKM 49.2) and 1 other tissue.

Summary

This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type Creatine Kinase to Myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

MYBPC1 Products (17)

mRNA	Protein	Name
NM_001254718.3	NP_001241647.1	myosin-binding protein C, slow-type isoform 5
NM_001254719.3	NP_001241648.1	myosin-binding protein C, slow-type isoform 6
NM_001254720.3	NP_001241649.1	myosin-binding protein C, slow-type isoform 7
NM_001254721.3	NP_001241650.1	myosin-binding protein C, slow-type isoform 8
NM_001254722.3	NP_001241651.1	myosin-binding protein C, slow-type isoform 9
NM_001254723.3	NP_001241652.1	myosin-binding protein C, slow-type isoform 10
NM_001404675.1	NP_001391604.1	myosin-binding protein C, slow-type isoform 11
NM_001404676.1	NP_001391605.1	myosin-binding protein C, slow-type isoform 12
NM_001404677.1	NP_001391606.1	myosin-binding protein C, slow-type isoform 13
NM_001404678.1	NP_001391607.1	myosin-binding protein C, slow-type isoform 14
NM_001404679.1	NP_001391608.1	myosin-binding protein C, slow-type isoform 15
NM_001404680.1	NP_001391609.1	myosin-binding protein C, slow-type isoform 16
NM_001404681.1	NP_001391610.1	myosin-binding protein C, slow-type isoform 17
NM_002465.4	NP_002456.2	myosin-binding protein C, slow-type isoform 1
NM_206819.4	NP_996555.1	myosin-binding protein C, slow-type isoform 2
NM_206820.4	NP_996556.1	myosin-binding protein C, slow-type isoform 3
NM_206821.4	NP_996557.1	myosin-binding protein C, slow-type isoform 4

MYBPC1 Protein Structure

I-set

fn3

I-set

fn3

I-set

0
200
400
600
800
1000
1141 a.a.

Protein Preferred Names	Protein Names
myosin-binding protein C, slow-type	myosin binding protein C, slow type

MYBPC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MYBPC1	Q00872	DYSF	Homo sapiens	O75923	Y2H Fragment Pooling	23414517
Intra	MYBPC1	Q00872	MYBPC2	Homo sapiens	Q14324	Y2H Fragment Pooling	23414517

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myopathy, Congenital, With Tremor	MYOTREM Myogenic Tremor
Arthrogryposis, Distal, Type 1b	DA1B Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1b
Lethal Congenital Contracture Syndrome 4	LCCS4 Contracture Syndrome, Lethal, Congenital, Type 4
Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome	Mybpc1-Related Autosomal Recessive Non-Lethal Amc Syndrome
Lethal Congenital Contracture Syndrome 3	LCCS3 Lethal Congenital Contractural Syndrome 3 Multiple Contracture Syndrome, Israeli Bedouin Type B Israeli Bedouin Type B Multiple Contracture Syndrome Lethal Congenital Contracture Syndrome Type 3 Multiple Contractural Syndrome Israeli Bedouin Type B Contracture Syndrome, Lethal, Congenital, Type 3
Arthrogryposis, Distal, Type 1a	Distal Arthrogryposis Type 1 Digitotalar Dysmorphism DA1A Da1 Amcd1 Arthrogryposis, Distal, Type 2b4 Distal Arthrogryposis Type 1a Arthrogryposis, Distal, Type 1 Arthrogryposis Multiplex Congenita Distal Type 1 Arthrogryposis Multiplex Congenita, Distal Type 1 Arthrogryposis Multiplex Congenita, Distal, Type I Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1a Amc Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, 2b4 DA2B4 Arthrogryposis Multiplex Congenita, Distal, Type 1 Arthrogryposis
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Lethal Congenital Contracture Syndrome	Lccs Lethal Congenital Contracture Syndrome 1
Arthrogryposis, Distal, Type 2a	Freeman-Sheldon Syndrome Craniocarpotarsal Dystrophy Craniocarpotarsal Dysplasia DA2A Whistling Face-Windmill Vane Hand Syndrome Fss Distal Arthrogryposis Type 2a Whistling Face Syndrome Freeman-Burian Syndrome Arthrogryposis Distal Type 2a Distal Arthrogryposis, Type 2a Fbs Arthrogryposis, Distal, 2a
Arthrogryposis, Distal, Type 5d	Distal Arthrogryposis Type 5d DA5D Distal Arthrogryposis Type 5 Without Ophthalmoparesis Distal Arthrogryposis Type 5 Without Ophthalmoplegia Arthrogryposis, Distal, 5d
Arthrogryposis, Distal, Type 5	Oculomelic Amyoplasia Distal Arthrogryposis Type 5 Distal Arthrogryposis Type Iib DA5 Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities Daiib Distal Arthrogryposis Type 2b Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome Distal Arthrogryposis With Ophthalmoplegia Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome Arthrogryposis, Distal, Type Iib Da2b Freeman-Sheldon Syndrome Variant Sheldon-Hall Syndrome Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities Arthrogryposis Ophthalmoplegia Retinopathy Arthrogryposis, Distal, 5 Arthrogryposis, Distal, Type 2b
Tremor	Medicament-Induced Tremor Medication-Induced Postural Tremor
Arthrogryposis, Distal, Type 10	DA10 Distal Arthrogryposis Type 10 Short Achilles Tendon Plantar Flexion Contracture Short Tendo Calcaneus Congenital Plantar Contractures Tendo Calcaneus, Short
Lethal Congenital Contracture Syndrome 2	LCCS2 Lethal Congenital Contractural Syndrome 2 Multiple Contracture Syndrome, Israeli-Bedouin Type Multiple Contracture Syndrome, Israeli Bedouin Type A Multiple Contracture Syndrome, Israeli Bedouin Type Lethal Congenital Contracture Syndrome Type 2 Israeli Bedouin Multiple Contracture Syndrome Type A Contracture Syndrome, Lethal, Congenital, Type 2
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Myopathy, Myofibrillar, 8	Myofibrillar Myopathy 8 MFM8 Myopathy, Myofibrillar, Type 8
Cardiomyopathy, Familial Hypertrophic, 4	Hypertrophic Cardiomyopathy 4 CMH4 Cardiomyopathy, Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic 4 Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To Cardiomyopathy, Hypertrophic, Familial, Type 4
Myopathy, Myofibrillar, 7	Myofibrillar Myopathy 7 MFM7 Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome Myopathy, Myofibrillar, Type 7
Myopathy, Centronuclear, 4	CNM4 Centronuclear Myopathy 4 Congenital Myopathy With Internal Nuclei And Atypical Cores Centronuclear Myopathy Type 4 Myopathy, Centronuclear, Type 4
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Myopathy, Centronuclear, 5	CNM5 Centronuclear Myopathy 5 Myopathy, Centronuclear, Type 5
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Myasthenic Syndrome, Congenital, 4b, Fast-Channel	Congenital Myasthenic Syndrome 4b CMS4B Congenital Myasthenic Syndrome 4b Fast-Channel Myasthenic Syndrome, Congenital, Type 4b, Fast-Channel
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Myopathy	Muscular Diseases Myopathies
Myasthenic Syndrome, Congenital, 14	Congenital Myasthenic Syndrome 14 CMS14 Cmsta3 Myasthenic Syndrome, Congenital, With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates Congenital Myasthenic Syndrome 14, With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3 Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates
Brody Disease	Brody Myopathy BROD Sarcoplasmic Reticulum -Ca2+Atpase Deficiency Myopathy, Brody
Primary Optic Atrophy
Atrophic Muscular Disease	Muscular Disorders, Atrophic
Atrial Standstill 1	ATRST1 Atrial Cardiomyopathy With Heart Block Cardiomyopathy, Familial, With Conduction Disturbance Atrial Standstill, Digenic Familial Cardiomyopathy With Conduction Disturbance Standstill, Atrial, Type 1 Heart Block Cardiomyopathies Idiopathic Cardiomyopathy Idiopathic Cardiopathy Primary Myocardial Disease Primary Cardiomyopathy Myocardiopathy Myocardosis Primary Idiopathic Myocardial Disease
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Lethal Congenital Contracture Syndrome 1	LCCS1 Multiple Contracture Syndrome, Finnish Type Lccs Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures Lethal Congenital Contracture Syndrome Type 1 Herva Disease Multiple Contracture Syndrome Finnish Type Contracture Syndrome, Lethal, Congenital, Type 1
Cerebral Creatine Deficiency Syndrome 1	Creatine Transporter Deficiency Creatine Transporter Defect Slc6a8 Deficiency X-Linked Creatine Deficiency Syndrome CCDS1 Creatine Deficiency Syndrome, X-Linked X-Linked Creatine Deficiency Creatine Deficiency, X-Linked X-Linked Creatine Transporter Deficiency Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia Mental Retardation, X-Linked, With Creatine Transport Deficiency Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia Intellectual Disability, X-Linked, With Creatine Transport Deficiency Slc6a8-Related Creatine Transporter Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 1
Fissured Tongue	Furrowed Tongue Plicated Tongue Tongue, Fissured Congenital Fissure Of Tongue Congenital Plicated Tongue Fissure Of Tongue Fissure Of Tongue, Congenital Geographic Tongue And Fissured Tongue Lingua Plicata Scrotal Tongue
Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 4c CMS4C Cms Id Cms1d Congenital Myasthenic Syndrome Type Id Fim1 Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Type Id Cms1d, Formerly Cms Id, Formerly Myasthenia, Familial Infantile, 1, Formerly Fim1, Formerly Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency Familial Infantile Myasthenia 1 Cms1e Cms-Achrd Cms Ie Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency Congenital Myasthenic Syndrome Type 1d Congenital Myasthenic Syndrome Type 1e Congenital Myasthenic Syndrome Type Ie Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency Myasthenia, Familial Infantile, 1 Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Ie
Spondylocarpotarsal Synostosis Syndrome	SCT Spondylocarpotarsal Syndrome Vertebral Fusion With Carpal Coalition Congenital Scoliosis With Unilateral Unsegmented Bar Congenital Synspondylism Spondylocarpotarsal Synostosis Synspondylism, Congenital Scoliosis, Congenital, With Unilateral Unsegmented Bar Scoliosis, Congenital With Unilateral Unsegmented Bar Synspondylism Congenital Sct Syndrome Synspondylism
Arthrogryposis, Distal, Type 7	Hecht Syndrome Trismus-Pseudocamptodactyly Syndrome Distal Arthrogryposis Type 7 Dutch-Kentucky Syndrome DA7 Hecht-Beals Syndrome Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons Arthrogryposis Distal Type 7 Trismus Pseudocamptodactyly Syndrome Arthrogryposis, Distal, 7
Scoliosis
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08873	MYBPC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MYBPC1	VGNC	VGNC:43522
Felis catus	MYBPC1	VGNC	VGNC:68373
Macaca mulatta	MYBPC1	VGNC	VGNC:75093
Bos taurus	MYBPC1	VGNC	VGNC:31780
Mus musculus	MYBPC1	MGD	MGI:1336213
Rattus norvegicus	MYBPC1	RGD	RGD:735102
Others	MYBPC1	NCBI