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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYBPC1 Gene

protein-coding GIFtS: 57
GCID: GC12P101971

myosin binding protein C, slow type

(Previous names: myosin-binding protein C, slow-type )

Explore 26 diseases affiliated with
MYBPC1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Myosin Binding Protein C, Slow Type¹ ²		C-Protein, Skeletal Muscle Slow Isoform² ³
Myosin-Binding Protein C, Slow-Type¹ ²		LCCS4²
Slow MyBP-C² ³		MYBPCC²
MYBPCS² ³		Skeletal Muscle C-Protein²

External Ids:	HGNC: 7549¹	Entrez Gene: 4604²	Ensembl: ENSG00000196091⁷	OMIM: 160794⁵	UniProtKB: Q00872³

Export aliases for MYBPC1 gene to outside databases

Previous GC identifers: GC12P101122 GC12P100491 GC12P099048

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MYBPC1:

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)

UniProtKB/Swiss-Prot: MYPC1_HUMAN, Q00872

Function: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In

vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It

may modulate muscle contraction or may play a more structural role

Gene Wiki entry for MYBPC1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYBPC1 gene promoter:
Egr-3 TBP STAT5B AML1a MEF-2 Nkx2-5 MEF-2A PPAR-gamma1 TFIID aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYBPC1 promoter sequence

Search SABiosciences Chromatin IP Primers for MYBPC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYBPC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q23.2 Ensembl cytogenetic band: 12q23.2 HGNC cytogenetic band: 12q23.2

MYBPC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYBPC1 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P101971: view genomic region (about GC identifiers)

Start:	101,962,131 bp from pter	End:	102,079,796 bp from pter
Size:	117,666 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MYPC1_HUMAN, Q00872 (See protein sequence)

Recommended Name: Myosin-binding protein C, slow-type

Size: 1141 amino acids; 128294 Da

Subunit: Interacts with USP25 (isoform USP25m only); the interaction prevents proteasomal degradation of MYBPC1

6/7 PDB 3D structures from and Proteopedia for MYBPC1 (see all 7):

1X44 (3D)

2DAV (3D)

2YUV (3D)

2YUW (3D)

2YUX (3D)

2YUZ (3D)

Secondary accessions: G3XAE8 Q15497 Q569K7 Q86T48 Q86TC8 Q8N3L2

Alternative splicing: 4 isoforms: Q00872-1 Q00872-2 Q00872-3 Q00872-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYBPC1: NX_Q00872

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q00872

MYBPC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (10 alternative transcripts):

NP_001241647.1 NP_001241648.1 NP_001241649.1 NP_001241650.1 NP_001241651.1 NP_001241652.1 NP_002456.2 NP_996555.1

NP_996556.1 NP_996557.1

ENSEMBL proteins:

ENSP00000447404 ENSP00000448175 ENSP00000400908 ENSP00000376665 ENSP00000447362

ENSP00000354845 ENSP00000447660 ENSP00000447900 ENSP00000440034 ENSP00000446128

ENSP00000442847 ENSP00000354849 ENSP00000447116 ENSP00000449702 ENSP00000388989

ENSP00000353822

Reactome Protein details: Q00872
Human Recombinant Protein Products:

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	Uscn Proteins for MYBPC1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0030016	myofibril	ISS	1429890
GO:0032982	myosin filament	IEA	--

MYBPC1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MYBPC1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MYBPC1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR003598 Ig_sub2

IPR007110 Ig-like_dom

IPR003599 Ig_sub

IPR003961 Fibronectin_type3

IPR013098 Ig_I-set

Graphical View of Domain Structure for InterPro Entry Q00872

ProtoNet protein and cluster: Q00872

3 Blocks protein families:

IPB003598 Immunoglobulin C-2 type

IPB003962 Fibronectin type III repeat signature

IPB013098 Immunoglobulin I-set

UniProtKB/Swiss-Prot: MYPC1_HUMAN, Q00872

Similarity: Belongs to the immunoglobulin superfamily. MyBP family

Similarity: Contains 3 fibronectin type-III domains

Similarity: Contains 7 Ig-like C2-type (immunoglobulin-like) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MYPC1_HUMAN, Q00872

Function: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In

vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It

may modulate muscle contraction or may play a more structural role

Genatlas biochemistry entry for MYBPC1:

myosin,and titin binding protein C,skeletal muscle,slow type,expressed in the A band of sarcomeres

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYBPC1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0008307	structural constituent of muscle	TAS	8375400
GO:0031432	titin binding	ISS	1429890

MYBPC1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for MYBPC1:

Synthetic lethal with c-Myc af

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Muscle contraction	0.65
	Striated Muscle Contraction	0.87

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for MYBPC1

Striated Muscle Contraction

2 Reactome Pathways for MYBPC1

	Muscle contraction
	Striated Muscle Contraction

MYBPC1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MYBPC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/47 Interacting proteins for MYBPC1 (Q00872^{1, 3} ENSP00000354849⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 47)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM1	P62158³, ENSP00000349467⁴	I2D: score=1 STRING: ENSP00000349467
CALM2	P62158³	I2D: score=1
CALM3	P62158³	I2D: score=1
FHL1	Q13642³, ENSP00000359724⁴	I2D: score=2 STRING: ENSP00000359724
MYBPC2	Q14324¹, ENSP00000350332⁴	EBI-5652924,EBI-5653200 STRING: ENSP00000350332

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006936	muscle contraction	--	--
GO:0007155	cell adhesion	IEA	--
GO:0030049	muscle filament sliding	TAS	--

MYBPC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MYBPC1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MYBPC1
3 Novoseek chemical compound relationships for MYBPC1 gene About this table

Compound	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
atp	1	12767664 (1)
calcium	1	19655190 (1)
isoproterenol	1	11179196 (1)

Search CenterWatch for drugs/clinical trials and news about MYBPC1 / MYPC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MYBPC1 gene (10 alternative transcripts):

NM_001254718.1 NM_001254719.1 NM_001254720.1 NM_001254721.1 NM_001254722.1 NM_001254723.1 NM_002465.3 NM_206819.2

NM_206820.2 NM_206821.2

Unigene Cluster for MYBPC1:

Myosin binding protein C, slow type

Hs.654589 [show with all ESTs]

Unigene Representative Sequence: NM_002465

18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):

ENST00000550514 ENST00000547405 ENST00000452455 ENST00000547627 ENST00000392934

ENST00000547509 ENST00000361685(uc001tif.2 uc001tig.3) ENST00000550501

ENST00000549145(uc010svq.2) ENST00000553190 ENST00000545503 ENST00000536007

ENST00000541119 ENST00000361466(uc001tih.3) ENST00000551300 ENST00000550270

ENST00000552198 ENST00000550312

miRNA Products:		OriGene 3'-UTR Clone (see all 4): MYBPC1 Browse OriGene MicroRNA Expression Plasmids
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		hsa-miR-298 hsa-miR-1224-3p
		SwitchGear 3'UTR luciferase reporter plasmid: MYBPC1 3' UTR sequence

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Additional cDNA sequence:

AK056587.1 AK292976.1 AK295727.1 AK296681.1 AK303401.1 AL831993.2 AL832000.2 AL832332.2

AL832350.2 AL832354.2 AL832456.2 AL834249.2 BC015187.1 BC030980.1 BC065720.1 BC092418.1

BC117217.1 BC143495.1 BC143502.1 BC143503.1 BC143504.1 BX649073.2 X66276.1 X73114.1

24/29 DOTS entries (see all 29):

DT.102831905 DT.95111148 DT.119180 DT.121120307 DT.91771299 DT.100828737 DT.91771311 DT.100828740

DT.91771301 DT.95111158 DT.100828739 DT.121120319 DT.121120356 DT.95111140 DT.97786988 DT.100669522

DT.121120325 DT.121120329 DT.91982975 DT.95284364 DT.100828738 DT.40116572 DT.75198509 DT.91948362

24/417 AceView cDNA sequences (see all 417):

F30557 F30693 NM_206820 AA257152 AL532946 F28202 NM_206819 F27121

F02786 AL596818 AL598948 F29539 CR609402 BQ949769 AA112818 F20624

BQ953803 F30877 AL589600 BC065720 F28682 F23351 F21621 F25180

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for MYBPC1 (see all 14) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^	16a	·	16b	^	17	^	18	^
SP1:							-				-		-		-		-																-
SP2:							-				-				-		-																-														-		-		-
SP3:
SP4:															-		-
SP5:

ExUns:	19	^	20	^	21a	·	21b	·	21c	^	22	^	23	^	24	^	25a	·	25b	^	26a	·	26b	^	27	^	28a	·	28b	^	29a	·	29b	^	30	^	31	^	32a	·	32b	^	33a	·	33b	^	34	^	35a	·	35b
SP1:			-												-		-		-																								-		-
SP2:	-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-						-		-
SP3:																																											-		-		-
SP4:
SP5:															-		-

ECgene alternative splicing isoforms for MYBPC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MYBPC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTACTCAGC

About this image

MYBPC1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Myotome

Limb Muscle Progenitor Cells

Skeletal Muscle

Adipose

Interscapular Brown Adipose Depot

Adipose

Bone

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MYBPC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYBPC1

SOURCE GeneReport for Unigene cluster: Hs.654589

SABiosciences Custom PCR Arrays for MYBPC1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYBPC1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MYBPC1 gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MYBPC1¹	myosin binding protein C, slow type	76.37(n) 78.76(a)		418099 XM_416332.3 XP_416332.3
lizard (Anolis carolinensis)	Reptilia	MYBPC1⁶	--	79(a)	1 ↔ 1	5(17274940-17335966)
zebrafish (Danio rerio)	Actinopterygii	Dr.19582²	Transcribed sequence with moderate similarity to protein more	75.34(n)		CK142448.1
fruit fly (Drosophila melanogaster)	Insecta	CG14964⁶	--	8(a)	1 → many	3L(3172817-3178580)

ENSEMBL Gene Tree for MYBPC1 (if available)
TreeFam Gene Tree for MYBPC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MYBPC1 gene

MYOM1² MYBPH² IGSF22² IGFN1² MYBPC2² MYBPC3² MYBPHL² MYOM3²

MYOM2²

12 SIMAP similar genes for MYBPC1 using alignment to 13 protein entries: MYPC1_HUMAN (see all proteins):

DKFZp779M1050 DKFZp451B236 DKFZp451H115 DKFZp451M091 DKFZp451E186 MYBPH

MYBPC2 MYBPHL MYBPC3 MUSK MYLK TTN

MYBPC1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7298502^1,2	C,F,A,H,	--	99046785(+)	`AGCGGA/TCTCAG`	10	--	us2k¹		15		NS EA NA WA	1456
rs78126053^1,2		--	99047371(+)	`CCAGGC/TCCCAT`	10	--	us2k¹		1		EA	120
rs76069203^1,2	F,	--	99047668(+)	`TTCCAC/ACTCCC`	10	--	us2k¹		1		WA	118
rs12308025^1,2		--	99048017(+)	`tcaggC/Agatcc`	10	--	us2k¹		1		CSA	2
rs11110874^1,2	C,F,H,	--	99048232(+)	`GCAAAC/TGCAGA`	10	--	us2k¹ tfbs³		6		NS EA NA	530
rs74354770^1,2	F,	--	99048692(+)	`AGAAAG/AGTCCC`	10	--	us2k¹		1		NA	120
rs78173516^1,2		--	99048809(+)	`CACACC/TGACCT`	10	--	ut5¹		1		NA	120
rs74550709^1,2		--	99049033(+)	`ATAAAA/GTCACT`	10	--	int¹		0	--	--	--	--
rs113623172^1,2	C,	--	99049456(+)	`TATCAG/TTGCCT`	10	--	int¹		0	--	--	--	--
rs7954933^1,2	C,F,A,H,	--	99049586(+)	`AATATG/ATAGTA`	10	--	int¹		8		NS EA NA WA	530

HapMap Linkage Disequilibrium report for MYBPC1 (101962131 - 102079796 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MYBPC1: --
Human Gene Mutation Database (HGMD): MYBPC1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MYBPC1 for disorders About GeneDecksing

OMIM gene information: 160794 OMIM disorders: --

UniProtKB/Swiss-Prot: MYPC1_HUMAN, Q00872

Defects in MYBPC1 are the cause of arthrogryposis, distal, type 1B (DA1B) [MIM:614335]. A form of distal

arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts

of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is

characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is

common. The shoulders and hips are less frequently affected

Note=Defects in MYBPC1 may be a cause of autosomal recessive lethal congenital contractural syndrome (LCCS), a

severe, neonatally lethal form of arthrogryposis

20/26 diseases for MYBPC1 (see all 26): About MalaCards

distal arthrogryposis arthrogryposis urethral intrinsic sphincter deficiency akinetic mutism

hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy dilated cardiomyopathy dysgraphia

laryngeal squamous cell carcinoma fg syndrome atrial fibrillation squamous cell carcinoma

cardiomyopathy mutism muscular dystrophy urethritis

polymyositis laryngitis dermatomyositis myositis

2 diseases from the University of Copenhagen DISEASES database for MYBPC1:

Distal arthrogryposis Urethral intrinsic sphincter deficiency

5 Novoseek disease relationships for MYBPC1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cardiomyopathy	57.6	3	15631686 (1), 10405155 (1)
dilated cardiomyopathy	55.9	1	18957093 (1)
hypertrophy	50.9	1	15823648 (1)
cardiac hypertrophy	48	1	10806915 (1)
heart diseases	33.7	3	8791411 (1), 19140019 (1)

Human Genome Epidemiology (HuGE) Navigator: MYBPC1 (4 documents)

Export disorders for MYBPC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MYBPC1 gene, integrated from 9 sources (see all 152):
(articles sorted by number of sources associating them with MYBPC1)

Utopia: connect your pdf to the dynamic
world of online information

Complete sequence of human fast-type and slow-type muscle myosin- binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. (PubMed id 8375400)^{1, 2, 3, 9} Weber F.E.... Fischman D.A. (1993)
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (PubMed id 20045868)^{1, 2} Gurnett C.A....Dobbs M.B. (2010)
Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod. (PubMed id 16918501)^{1, 3} Flashman E....Redwood C. (2007)
The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. (PubMed id 16501887)^{1, 2} Bosch-Comas A....Marfany G. (2006)
Mammalian skeletal muscle C-protein: purification from bovine muscle, binding to titin and the characterization of a full-length human cDNA. (PubMed id 1429890)^{1, 2} Fuerst D.O.... Weber K. (1992)
The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells. (PubMed id 12154082)^{1, 9} Welikson R.E. and Fischman D.A. (2002)
Expression of slow skeletal myosin binding C-protein in normal adult mammalian heart. (PubMed id 16003462)^{1, 9} Dhoot G.K. and Perry S.V. (2005)
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. (PubMed id 12628722)^{1, 9} Konno T.... Mabuchi H. (2003)
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (PubMed id 22610851)² Markus B.... Birk O.S. (2012)
Slow skeletal muscle myosin-binding protein-C (MyBPC1 ) mediates recruitment of muscle-type creatine kinase (CK) to myosin. (PubMed id 21426302)¹ Chen Z....Zhou H.M. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4604	HGNC: 7549	AceView: MYBPC1	Ensembl:ENSG00000196091	euGenes: HUgn4604
ECgene: MYBPC1	H-InvDB: MYBPC1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MYBPC1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MYBPC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MYBPC1 gene:
Search GeneIP for patents involving MYBPC1

GeneCards and IP:
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myosin binding protein C, slow type

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MYBPC1 Gene

myosin binding protein C, slow type

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