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Q14896

- MYPC3_HUMAN

UniProt

Q14896 - MYPC3_HUMAN

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Protein

Myosin-binding protein C, cardiac-type

Gene

MYBPC3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi208 – 2081Zinc
Metal bindingi210 – 2101Zinc
Metal bindingi223 – 2231Zinc
Metal bindingi225 – 2251Zinc

GO - Molecular functioni

  1. ATPase activator activity Source: BHF-UCL
  2. identical protein binding Source: IntAct
  3. metal ion binding Source: UniProtKB-KW
  4. myosin binding Source: BHF-UCL
  5. myosin heavy chain binding Source: BHF-UCL
  6. structural constituent of muscle Source: BHF-UCL
  7. titin binding Source: BHF-UCL

GO - Biological processi

  1. cardiac muscle contraction Source: BHF-UCL
  2. cell adhesion Source: UniProtKB-KW
  3. heart morphogenesis Source: BHF-UCL
  4. muscle filament sliding Source: Reactome
  5. myosin filament assembly Source: Ensembl
  6. positive regulation of ATPase activity Source: BHF-UCL
  7. regulation of heart rate Source: Ensembl
  8. regulation of muscle filament sliding Source: BHF-UCL
  9. regulation of striated muscle contraction Source: BHF-UCL
  10. sarcomere organization Source: Ensembl
  11. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Actin-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin-binding protein C, cardiac-type
Short name:
Cardiac MyBP-C
Alternative name(s):
C-protein, cardiac muscle isoform
Gene namesi
Name:MYBPC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:7551. MYBPC3.

Subcellular locationi

GO - Cellular componenti

  1. A band Source: BHF-UCL
  2. cytosol Source: Reactome
  3. C zone Source: BHF-UCL
  4. sarcomere Source: BHF-UCL
  5. striated muscle myosin thick filament Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Thick filament

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.22 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51G → R in CMH4. 1 Publication
VAR_029390
Natural varianti59 – 591T → A in CMH4. 1 Publication
VAR_029391
Natural varianti161 – 1611P → S in CMH4. 1 Publication
VAR_029392
Natural varianti219 – 2191V → L in CMH4. 1 Publication
VAR_029393
Natural varianti228 – 2281D → N in CMH4. 1 Publication
VAR_029394
Natural varianti237 – 2371Y → S in CMH4. 1 Publication
VAR_029395
Natural varianti256 – 2561V → I in CMH4. 1 Publication
VAR_029396
Natural varianti257 – 2571H → P in CMH4. 1 Publication
VAR_019889
Natural varianti258 – 2581E → K in CMH4. 8 Publications
VAR_019890
Natural varianti263 – 2631G → R in CMH4. 1 Publication
VAR_042740
Natural varianti272 – 2721R → C in CMH4. 1 Publication
VAR_070449
Natural varianti273 – 2731R → H in CMH4. 1 Publication
VAR_042741
Natural varianti278 – 2781G → E in CMH4. 2 Publications
Corresponds to variant rs147315081 [ dbSNP | Ensembl ].
VAR_019891
Natural varianti279 – 2791G → A in CMH4. 1 Publication
VAR_019892
Natural varianti282 – 2821R → W in CMH4. 2 Publications
VAR_029397
Natural varianti336 – 3361I → V in CMH4. 1 Publication
VAR_070450
Natural varianti352 – 3521L → P in CMH4. 1 Publication
VAR_019894
Natural varianti417 – 4171A → S in CMH4. 1 Publication
VAR_042742
Natural varianti451 – 4511E → Q in CMH4. 1 Publication
VAR_027879
Natural varianti458 – 4581R → H in CMH4. 1 Publication
VAR_029399
Natural varianti490 – 4901G → R in CMH4, CMD1MM and LVNC10. 4 Publications
VAR_029400
Natural varianti490 – 4901G → V in CMH4. 1 Publication
VAR_070451
Natural varianti495 – 4951R → G in CMH4. 1 Publication
VAR_045929
Natural varianti495 – 4951R → Q in CMH4. 4 Publications
VAR_027880
Natural varianti502 – 5021R → Q in CMH4. 3 Publications
VAR_027881
Natural varianti502 – 5021R → W in CMH4. 4 Publications
VAR_019895
Natural varianti504 – 5041Missing in CMH4. 1 Publication
VAR_019896
Natural varianti507 – 5071G → R in CMH4. 3 Publications
Corresponds to variant rs35736435 [ dbSNP | Ensembl ].
VAR_029401
Natural varianti523 – 5231G → W in CMH4. 1 Publication
VAR_029402
Natural varianti542 – 5421E → Q in CMH4. 4 Publications
VAR_003917
Natural varianti566 – 5661C → R in CMH4. 2 Publications
VAR_029404
Natural varianti604 – 6041D → V in CMH4. 1 Publication
VAR_029405
Natural varianti605 – 6051D → N in CMH4; unknown pathological significance. 3 Publications
VAR_029406
Natural varianti608 – 6081P → L in CMH4. 1 Publication
VAR_029407
Natural varianti654 – 6541R → H in CMH4; as well folded and stable as the wild-type. 1 Publication
Corresponds to variant rs1800565 [ dbSNP | Ensembl ].
VAR_003918
Natural varianti668 – 6681R → H in CMH4. 1 Publication
VAR_029408
Natural varianti668 – 6681R → P in CMH4. 1 Publication
VAR_029409
Natural varianti669 – 6691L → H in CMH4. 1 Publication
VAR_042743
Natural varianti733 – 7331R → C in CMH4. 1 Publication
VAR_029410
Natural varianti755 – 7551N → K in CMH4; destabilizes the structure of Ig-like C2-type domain 5. 1 Publication
VAR_003919
Natural varianti759 – 7591E → D in CMH4. 1 Publication
VAR_042744
Natural varianti770 – 7701D → N in CMH4. 1 Publication
Corresponds to variant rs36211723 [ dbSNP | Ensembl ].
VAR_029411
Natural varianti792 – 7921W → R in CMH4. 1 Publication
VAR_029412
Natural varianti810 – 8101R → H in CMH4. 2 Publications
VAR_029413
Natural varianti811 – 8111K → R in CMH4. 1 Publication
VAR_019897
Natural varianti811 – 8111Missing in CMH4. 1 Publication
VAR_029414
Natural varianti813 – 8131Missing in CMH4. 1 Publication
VAR_029415
Natural varianti820 – 8201R → Q in CMH4. 4 Publications
Corresponds to variant rs2856655 [ dbSNP | Ensembl ].
VAR_029416
Natural varianti833 – 8331A → T in CMH4 and CMD1MM. 5 Publications
VAR_029417
Natural varianti833 – 8331A → V in CMH4. 3 Publications
Corresponds to variant rs3729952 [ dbSNP | Ensembl ].
VAR_019898
Natural varianti834 – 8341R → T in CMH4.
VAR_029418
Natural varianti834 – 8341R → W in CMH4; pathogenicity is uncertain. 1 Publication
VAR_029419
Natural varianti873 – 8731P → H in CMH4. 1 Publication
VAR_029420
Natural varianti948 – 9481N → T in CMH4. 1 Publication
VAR_029421
Natural varianti957 – 9571T → S in CMH4. 1 Publication
VAR_070453
Natural varianti958 – 9581T → I in CMH4. 1 Publication
VAR_070454
Natural varianti998 – 9981Q → E in CMH4; dbNP:11570112. 2 Publications
Corresponds to variant rs11570112 [ dbSNP | Ensembl ].
VAR_020574
Natural varianti998 – 9981Q → R in CMH4. 1 Publication
VAR_029422
Natural varianti1002 – 10021R → Q in CMH4. 1 Publication
VAR_029423
Natural varianti1003 – 10031P → Q in CMH4.
VAR_029425
Natural varianti1028 – 10281T → S in CMH4. 1 Publication
VAR_045930
Natural varianti1113 – 11131F → I in CMH4. 1 Publication
VAR_029426
Natural varianti1115 – 11151V → I in CMH4. 2 Publications
VAR_029427
Natural varianti1131 – 11311I → T in CMH4; unknown pathological significance. 2 Publications
VAR_029428
Natural varianti1155 – 11551Missing in CMH4.
VAR_029429
Natural varianti1194 – 11941A → T in CMH4. 1 Publication
VAR_019900
Natural varianti1248 – 12481G → R in CMH4. 1 Publication
VAR_045931
Natural varianti1255 – 12551A → T in CMH4. 1 Publication
VAR_019901
Cardiomyopathy, dilated 1MM (CMD1MM) [MIM:615396]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti490 – 4901G → R in CMH4, CMD1MM and LVNC10. 4 Publications
VAR_029400
Natural varianti833 – 8331A → T in CMH4 and CMD1MM. 5 Publications
VAR_029417
Natural varianti1264 – 12641C → F in CMD1MM. 1 Publication
VAR_070455
Left ventricular non-compaction 10 (LVNC10) [MIM:615396]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti490 – 4901G → R in CMH4, CMD1MM and LVNC10. 4 Publications
VAR_029400
Natural varianti873 – 8731P → L in LVNC10. 1 Publication
VAR_070452

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi115197. phenotype.
615396. phenotype.
Orphaneti154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBiPA31351.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12741274Myosin-binding protein C, cardiac-typePRO_0000072693Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineBy similarity
Modified residuei275 – 2751Phosphoserine; by PKA and PKCBy similarity
Modified residuei284 – 2841Phosphoserine; by PKA and PKCBy similarity
Modified residuei304 – 3041Phosphoserine; by PKA and PKCBy similarity
Disulfide bondi436 ↔ 443PROSITE-ProRule annotation

Post-translational modificationi

Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction (By similarity).By similarity

Keywords - PTMi

Acetylation, Disulfide bond, Phosphoprotein

Proteomic databases

PaxDbiQ14896.
PRIDEiQ14896.

2D gel databases

UCD-2DPAGEQ14896.

PTM databases

PhosphoSiteiQ14896.

Expressioni

Gene expression databases

BgeeiQ14896.
CleanExiHS_MYBPC3.
ExpressionAtlasiQ14896. baseline.
GenevestigatoriQ14896.

Organism-specific databases

HPAiHPA040147.
HPA043898.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-704176,EBI-704176

Protein-protein interaction databases

BioGridi110692. 10 interactions.
IntActiQ14896. 3 interactions.
MINTiMINT-6174801.
STRINGi9606.ENSP00000382193.

Structurei

Secondary structure

1
1274
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi19 – 224Combined sources
Beta strandi27 – 326Combined sources
Beta strandi34 – 374Combined sources
Beta strandi41 – 433Combined sources
Beta strandi45 – 495Combined sources
Beta strandi56 – 605Combined sources
Beta strandi63 – 708Combined sources
Beta strandi77 – 837Combined sources
Beta strandi86 – 9510Combined sources
Beta strandi156 – 1594Combined sources
Beta strandi164 – 1674Combined sources
Beta strandi172 – 1798Combined sources
Beta strandi184 – 1863Combined sources
Beta strandi188 – 1936Combined sources
Turni194 – 1963Combined sources
Helixi199 – 2024Combined sources
Beta strandi207 – 2148Combined sources
Turni215 – 2184Combined sources
Beta strandi219 – 2268Combined sources
Helixi231 – 2333Combined sources
Beta strandi235 – 2428Combined sources
Beta strandi247 – 25711Combined sources
Beta strandi456 – 4583Combined sources
Beta strandi465 – 4673Combined sources
Beta strandi475 – 4795Combined sources
Beta strandi486 – 4883Combined sources
Beta strandi499 – 5068Combined sources
Beta strandi509 – 5179Combined sources
Beta strandi524 – 5285Combined sources
Beta strandi533 – 5375Combined sources
Beta strandi650 – 6523Combined sources
Beta strandi658 – 6658Combined sources
Beta strandi670 – 6723Combined sources
Beta strandi675 – 6773Combined sources
Beta strandi680 – 6867Combined sources
Beta strandi722 – 7243Combined sources
Beta strandi726 – 7305Combined sources
Beta strandi733 – 7375Combined sources
Turni743 – 7453Combined sources
Beta strandi747 – 7548Combined sources
Beta strandi759 – 76810Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1GXENMR-A641-770[»]
1PD6NMR-A358-451[»]
2AVGNMR-A151-260[»]
2K1MNMR-A2-96[»]
2MQ0NMR-A453-543[»]
2MQ3NMR-A453-543[»]
2V6HX-ray1.55A151-258[»]
3CX2X-ray1.30A151-258[»]
ProteinModelPortaliQ14896.
SMRiQ14896. Positions 2-96, 151-258, 319-353, 358-1168, 1181-1271.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14896.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini153 – 256104Ig-like C2-type 1Add
BLAST
Domaini362 – 45291Ig-like C2-type 2Add
BLAST
Domaini453 – 54391Ig-like C2-type 3Add
BLAST
Domaini544 – 63390Ig-like C2-type 4Add
BLAST
Domaini645 – 771127Ig-like C2-type 5Add
BLAST
Domaini774 – 87097Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini872 – 96796Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini971 – 106595Ig-like C2-type 6Add
BLAST
Domaini1068 – 116396Fibronectin type-III 3PROSITE-ProRule annotationAdd
BLAST
Domaini1181 – 127494Ig-like C2-type 7Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi102 – 15251Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the immunoglobulin superfamily. MyBP family.Curated
Contains 3 fibronectin type-III domains.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

eggNOGiNOG12793.
GeneTreeiENSGT00760000119038.
HOGENOMiHOG000220906.
HOVERGENiHBG052560.
InParanoidiQ14896.
KOiK12568.
OMAiEIQMSGS.
OrthoDBiEOG7WX07H.
TreeFamiTF351819.

Family and domain databases

Gene3Di2.60.40.10. 11 hits.
InterProiIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF00041. fn3. 3 hits.
PF07679. I-set. 8 hits.
[Graphical view]
SMARTiSM00060. FN3. 3 hits.
SM00409. IG. 7 hits.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 3 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q14896-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPEPGKKPVS AFSKKPRSVE VAAGSPAVFE AETERAGVKV RWQRGGSDIS
60 70 80 90 100
ASNKYGLATE GTRHTLTVRE VGPADQGSYA VIAGSSKVKF DLKVIEAEKA
110 120 130 140 150
EPMLAPAPAP AEATGAPGEA PAPAAELGES APSPKGSSSA ALNGPTPGAP
160 170 180 190 200
DDPIGLFVMR PQDGEVTVGG SITFSARVAG ASLLKPPVVK WFKGKWVDLS
210 220 230 240 250
SKVGQHLQLH DSYDRASKVY LFELHITDAQ PAFTGSYRCE VSTKDKFDCS
260 270 280 290 300
NFNLTVHEAM GTGDLDLLSA FRRTSLAGGG RRISDSHEDT GILDFSSLLK
310 320 330 340 350
KRDSFRTPRD SKLEAPAEED VWEILRQAPP SEYERIAFQY GVTDLRGMLK
360 370 380 390 400
RLKGMRRDEK KSTAFQKKLE PAYQVSKGHK IRLTVELADH DAEVKWLKNG
410 420 430 440 450
QEIQMSGSKY IFESIGAKRT LTISQCSLAD DAAYQCVVGG EKCSTELFVK
460 470 480 490 500
EPPVLITRPL EDQLVMVGQR VEFECEVSEE GAQVKWLKDG VELTREETFK
510 520 530 540 550
YRFKKDGQRH HLIINEAMLE DAGHYALCTS GGQALAELIV QEKKLEVYQS
560 570 580 590 600
IADLMVGAKD QAVFKCEVSD ENVRGVWLKN GKELVPDSRI KVSHIGRVHK
610 620 630 640 650
LTIDDVTPAD EADYSFVPEG FACNLSAKLH FMEVKIDFVP RQEPPKIHLD
660 670 680 690 700
CPGRIPDTIV VVAGNKLRLD VPISGDPAPT VIWQKAITQG NKAPARPAPD
710 720 730 740 750
APEDTGDSDE WVFDKKLLCE TEGRVRVETT KDRSIFTVEG AEKEDEGVYT
760 770 780 790 800
VTVKNPVGED QVNLTVKVID VPDAPAAPKI SNVGEDSCTV QWEPPAYDGG
810 820 830 840 850
QPILGYILER KKKKSYRWMR LNFDLIQELS HEARRMIEGV VYEMRVYAVN
860 870 880 890 900
AIGMSRPSPA SQPFMPIGPP SEPTHLAVED VSDTTVSLKW RPPERVGAGG
910 920 930 940 950
LDGYSVEYCP EGCSEWVAAL QGLTEHTSIL VKDLPTGARL LFRVRAHNMA
960 970 980 990 1000
GPGAPVTTTE PVTVQEILQR PRLQLPRHLR QTIQKKVGEP VNLLIPFQGK
1010 1020 1030 1040 1050
PRPQVTWTKE GQPLAGEEVS IRNSPTDTIL FIRAARRVHS GTYQVTVRIE
1060 1070 1080 1090 1100
NMEDKATLVL QVVDKPSPPQ DLRVTDAWGL NVALEWKPPQ DVGNTELWGY
1110 1120 1130 1140 1150
TVQKADKKTM EWFTVLEHYR RTHCVVPELI IGNGYYFRVF SQNMVGFSDR
1160 1170 1180 1190 1200
AATTKEPVFI PRPGITYEPP NYKALDFSEA PSFTQPLVNR SVIAGYTAML
1210 1220 1230 1240 1250
CCAVRGSPKP KISWFKNGLD LGEDARFRMF SKQGVLTLEI RKPCPFDGGI
1260 1270
YVCRATNLQG EARCECRLEV RVPQ
Length:1,274
Mass (Da):140,762
Last modified:November 28, 2012 - v4
Checksum:i4E5385C40085B796
GO
Isoform 2 (identifier: Q14896-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     408-409: SK → R

Show »
Length:1,273
Mass (Da):140,703
Checksum:iA23FC20A513F4920
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti248 – 2481D → E(PubMed:7744002)Curated
Sequence conflicti248 – 2481D → E(PubMed:9048664)Curated
Sequence conflicti302 – 3032RD → SS in AAR89909. 1 PublicationCurated
Sequence conflicti536 – 5361A → R in CAA58882. (PubMed:7744002)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51G → R in CMH4. 1 Publication
VAR_029390
Natural varianti59 – 591T → A in CMH4. 1 Publication
VAR_029391
Natural varianti158 – 1581V → M.3 Publications
Corresponds to variant rs3729986 [ dbSNP | Ensembl ].
VAR_020085
Natural varianti161 – 1611P → S in CMH4. 1 Publication
VAR_029392
Natural varianti189 – 1891V → I.1 Publication
Corresponds to variant rs11570052 [ dbSNP | Ensembl ].
VAR_020568
Natural varianti219 – 2191V → L in CMH4. 1 Publication
VAR_029393
Natural varianti228 – 2281D → N in CMH4. 1 Publication
VAR_029394
Natural varianti236 – 2361S → G.6 Publications
Corresponds to variant rs3729989 [ dbSNP | Ensembl ].
VAR_020086
Natural varianti237 – 2371Y → S in CMH4. 1 Publication
VAR_029395
Natural varianti256 – 2561V → I in CMH4. 1 Publication
VAR_029396
Natural varianti257 – 2571H → P in CMH4. 1 Publication
VAR_019889
Natural varianti258 – 2581E → K in CMH4. 8 Publications
VAR_019890
Natural varianti263 – 2631G → R in CMH4. 1 Publication
VAR_042740
Natural varianti272 – 2721R → C in CMH4. 1 Publication
VAR_070449
Natural varianti273 – 2731R → H in CMH4. 1 Publication
VAR_042741
Natural varianti278 – 2781G → E in CMH4. 2 Publications
Corresponds to variant rs147315081 [ dbSNP | Ensembl ].
VAR_019891
Natural varianti279 – 2791G → A in CMH4. 1 Publication
VAR_019892
Natural varianti281 – 2811R → Q.1 Publication
Corresponds to variant rs11570060 [ dbSNP | Ensembl ].
VAR_020569
Natural varianti282 – 2821R → W in CMH4. 2 Publications
VAR_029397
Natural varianti326 – 3261R → Q.9 Publications
Corresponds to variant rs34580776 [ dbSNP | Ensembl ].
VAR_019893
Natural varianti336 – 3361I → V in CMH4. 1 Publication
VAR_070450
Natural varianti352 – 3521L → P in CMH4. 1 Publication
VAR_019894
Natural varianti382 – 3821R → W.2 Publications
Corresponds to variant rs11570076 [ dbSNP | Ensembl ].
VAR_020570
Natural varianti383 – 3831L → V.1 Publication
Corresponds to variant rs11570077 [ dbSNP | Ensembl ].
VAR_020571
Natural varianti416 – 4161G → S.1 Publication
VAR_029398
Natural varianti417 – 4171A → S in CMH4. 1 Publication
VAR_042742
Natural varianti451 – 4511E → Q in CMH4. 1 Publication
VAR_027879
Natural varianti458 – 4581R → H in CMH4. 1 Publication
VAR_029399
Natural varianti490 – 4901G → R in CMH4, CMD1MM and LVNC10. 4 Publications
VAR_029400
Natural varianti490 – 4901G → V in CMH4. 1 Publication
VAR_070451
Natural varianti495 – 4951R → G in CMH4. 1 Publication
VAR_045929
Natural varianti495 – 4951R → Q in CMH4. 4 Publications
VAR_027880
Natural varianti502 – 5021R → Q in CMH4. 3 Publications
VAR_027881
Natural varianti502 – 5021R → W in CMH4. 4 Publications
VAR_019895
Natural varianti504 – 5041Missing in CMH4. 1 Publication
VAR_019896
Natural varianti507 – 5071G → R in CMH4. 3 Publications
Corresponds to variant rs35736435 [ dbSNP | Ensembl ].
VAR_029401
Natural varianti522 – 5221A → T.1 Publication
Corresponds to variant rs11570082 [ dbSNP | Ensembl ].
VAR_020573
Natural varianti523 – 5231G → W in CMH4. 1 Publication
VAR_029402
Natural varianti542 – 5421E → Q in CMH4. 4 Publications
VAR_003917
Natural varianti545 – 5451L → M.1 Publication
VAR_029403
Natural varianti566 – 5661C → R in CMH4. 2 Publications
VAR_029404
Natural varianti604 – 6041D → V in CMH4. 1 Publication
VAR_029405
Natural varianti605 – 6051D → N in CMH4; unknown pathological significance. 3 Publications
VAR_029406
Natural varianti608 – 6081P → L in CMH4. 1 Publication
VAR_029407
Natural varianti654 – 6541R → H in CMH4; as well folded and stable as the wild-type. 1 Publication
Corresponds to variant rs1800565 [ dbSNP | Ensembl ].
VAR_003918
Natural varianti668 – 6681R → H in CMH4. 1 Publication
VAR_029408
Natural varianti668 – 6681R → P in CMH4. 1 Publication
VAR_029409
Natural varianti669 – 6691L → H in CMH4. 1 Publication
VAR_042743
Natural varianti733 – 7331R → C in CMH4. 1 Publication
VAR_029410
Natural varianti755 – 7551N → K in CMH4; destabilizes the structure of Ig-like C2-type domain 5. 1 Publication
VAR_003919
Natural varianti759 – 7591E → D in CMH4. 1 Publication
VAR_042744
Natural varianti770 – 7701D → N in CMH4. 1 Publication
Corresponds to variant rs36211723 [ dbSNP | Ensembl ].
VAR_029411
Natural varianti792 – 7921W → R in CMH4. 1 Publication
VAR_029412
Natural varianti810 – 8101R → H in CMH4. 2 Publications
VAR_029413
Natural varianti811 – 8111K → R in CMH4. 1 Publication
VAR_019897
Natural varianti811 – 8111Missing in CMH4. 1 Publication
VAR_029414
Natural varianti813 – 8131Missing in CMH4. 1 Publication
VAR_029415
Natural varianti820 – 8201R → Q in CMH4. 4 Publications
Corresponds to variant rs2856655 [ dbSNP | Ensembl ].
VAR_029416
Natural varianti833 – 8331A → T in CMH4 and CMD1MM. 5 Publications
VAR_029417
Natural varianti833 – 8331A → V in CMH4. 3 Publications
Corresponds to variant rs3729952 [ dbSNP | Ensembl ].
VAR_019898
Natural varianti834 – 8341R → T in CMH4.
VAR_029418
Natural varianti834 – 8341R → W in CMH4; pathogenicity is uncertain. 1 Publication
VAR_029419
Natural varianti873 – 8731P → H in CMH4. 1 Publication
VAR_029420
Natural varianti873 – 8731P → L in LVNC10. 1 Publication
VAR_070452
Natural varianti896 – 8961V → M May act as a phenotype modifier in cardiomyopathy patients. 5 Publications
Corresponds to variant rs35078470 [ dbSNP | Ensembl ].
VAR_019899
Natural varianti948 – 9481N → T in CMH4. 1 Publication
VAR_029421
Natural varianti957 – 9571T → S in CMH4. 1 Publication
VAR_070453
Natural varianti958 – 9581T → I in CMH4. 1 Publication
VAR_070454
Natural varianti998 – 9981Q → E in CMH4; dbNP:11570112. 2 Publications
Corresponds to variant rs11570112 [ dbSNP | Ensembl ].
VAR_020574
Natural varianti998 – 9981Q → R in CMH4. 1 Publication
VAR_029422
Natural varianti1002 – 10021R → Q in CMH4. 1 Publication
VAR_029423
Natural varianti1002 – 10021R → W.1 Publication
Corresponds to variant rs3729799 [ dbSNP | Ensembl ].
VAR_029424
Natural varianti1003 – 10031P → Q in CMH4.
VAR_029425
Natural varianti1028 – 10281T → S in CMH4. 1 Publication
VAR_045930
Natural varianti1048 – 10481R → C.1 Publication
Corresponds to variant rs11570113 [ dbSNP | Ensembl ].
VAR_020575
Natural varianti1113 – 11131F → I in CMH4. 1 Publication
VAR_029426
Natural varianti1115 – 11151V → I in CMH4. 2 Publications
VAR_029427
Natural varianti1131 – 11311I → T in CMH4; unknown pathological significance. 2 Publications
VAR_029428
Natural varianti1155 – 11551Missing in CMH4.
VAR_029429
Natural varianti1194 – 11941A → T in CMH4. 1 Publication
VAR_019900
Natural varianti1248 – 12481G → R in CMH4. 1 Publication
VAR_045931
Natural varianti1255 – 12551A → T in CMH4. 1 Publication
VAR_019901
Natural varianti1264 – 12641C → F in CMD1MM. 1 Publication
VAR_070455

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei408 – 4092SK → R in isoform 2. CuratedVSP_047141

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X84075 mRNA. Translation: CAA58882.1.
Y10129 Genomic DNA. Translation: CAA71216.1.
U91629 Genomic DNA. Translation: AAC04620.1.
AY518390 Genomic DNA. Translation: AAR89909.1.
GU324918 Genomic DNA. Translation: ADL14489.1.
AC090582 Genomic DNA. No translation available.
BC136543 mRNA. Translation: AAI36544.1.
BC136546 mRNA. Translation: AAI36547.1.
BC142685 mRNA. Translation: AAI42686.1.
BC151211 mRNA. Translation: AAI51212.1.
S80778 mRNA. Translation: AAB35662.1.
CCDSiCCDS53621.1. [Q14896-1]
PIRiS55050.
RefSeqiNP_000247.2. NM_000256.3. [Q14896-1]
UniGeneiHs.524906.

Genome annotation databases

EnsembliENST00000545968; ENSP00000442795; ENSG00000134571. [Q14896-1]
GeneIDi4607.
KEGGihsa:4607.
UCSCiuc021qir.1. human. [Q14896-1]

Polymorphism databases

DMDMi425906074.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X84075 mRNA. Translation: CAA58882.1 .
Y10129 Genomic DNA. Translation: CAA71216.1 .
U91629 Genomic DNA. Translation: AAC04620.1 .
AY518390 Genomic DNA. Translation: AAR89909.1 .
GU324918 Genomic DNA. Translation: ADL14489.1 .
AC090582 Genomic DNA. No translation available.
BC136543 mRNA. Translation: AAI36544.1 .
BC136546 mRNA. Translation: AAI36547.1 .
BC142685 mRNA. Translation: AAI42686.1 .
BC151211 mRNA. Translation: AAI51212.1 .
S80778 mRNA. Translation: AAB35662.1 .
CCDSi CCDS53621.1. [Q14896-1 ]
PIRi S55050.
RefSeqi NP_000247.2. NM_000256.3. [Q14896-1 ]
UniGenei Hs.524906.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1GXE NMR - A 641-770 [» ]
1PD6 NMR - A 358-451 [» ]
2AVG NMR - A 151-260 [» ]
2K1M NMR - A 2-96 [» ]
2MQ0 NMR - A 453-543 [» ]
2MQ3 NMR - A 453-543 [» ]
2V6H X-ray 1.55 A 151-258 [» ]
3CX2 X-ray 1.30 A 151-258 [» ]
ProteinModelPortali Q14896.
SMRi Q14896. Positions 2-96, 151-258, 319-353, 358-1168, 1181-1271.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110692. 10 interactions.
IntActi Q14896. 3 interactions.
MINTi MINT-6174801.
STRINGi 9606.ENSP00000382193.

PTM databases

PhosphoSitei Q14896.

Polymorphism databases

DMDMi 425906074.

2D gel databases

UCD-2DPAGE Q14896.

Proteomic databases

PaxDbi Q14896.
PRIDEi Q14896.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000545968 ; ENSP00000442795 ; ENSG00000134571 . [Q14896-1 ]
GeneIDi 4607.
KEGGi hsa:4607.
UCSCi uc021qir.1. human. [Q14896-1 ]

Organism-specific databases

CTDi 4607.
GeneCardsi GC11M049901.
GeneReviewsi MYBPC3.
HGNCi HGNC:7551. MYBPC3.
HPAi HPA040147.
HPA043898.
MIMi 115197. phenotype.
600958. gene.
615396. phenotype.
neXtProti NX_Q14896.
Orphaneti 154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBi PA31351.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
GeneTreei ENSGT00760000119038.
HOGENOMi HOG000220906.
HOVERGENi HBG052560.
InParanoidi Q14896.
KOi K12568.
OMAi EIQMSGS.
OrthoDBi EOG7WX07H.
TreeFami TF351819.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi MYBPC3. human.
EvolutionaryTracei Q14896.
GeneWikii Myosin_binding_protein_C,_cardiac.
GenomeRNAii 4607.
NextBioi 17732.
PROi Q14896.
SOURCEi Search...

Gene expression databases

Bgeei Q14896.
CleanExi HS_MYBPC3.
ExpressionAtlasi Q14896. baseline.
Genevestigatori Q14896.

Family and domain databases

Gene3Di 2.60.40.10. 11 hits.
InterProi IPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view ]
Pfami PF00041. fn3. 3 hits.
PF07679. I-set. 8 hits.
[Graphical view ]
SMARTi SM00060. FN3. 3 hits.
SM00409. IG. 7 hits.
SM00408. IGc2. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 2 hits.
PROSITEi PS50853. FN3. 3 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?"
    Gautel M., Zuffardi O., Freiburg A., Labeit S.
    EMBO J. 14:1952-1960(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMH4 GLN-820.
    Tissue: Heart.
  2. "Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy."
    Carrier L., Bonne G., Bahrend E., Yu B., Richard P., Niel F., Hainque B., Cruaud C., Gary F., Labeit S., Bouhour J.-B., Dubourg O., Desnos M., Hagege A.A., Trent R.J., Komajda M., Fiszman M., Schwartz K.
    Circ. Res. 80:427-434(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CMH4 GLN-542 AND GLN-820.
  3. "Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy."
    Niimura H., Bachinski L.L., Sangwatanaroj S., Watkins H., Chudley A.E., McKenna W., Kristinsson A., Roberts R., Sole M., Maron B.J., Seidman J.G., Seidman C.E.
    N. Engl. J. Med. 338:1248-1257(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CMH4 GLN-451; GLN-495 AND GLN-502.
  4. NIEHS SNPs program
    Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS MET-158; ILE-189; GLY-236; GLN-281; TRP-382; VAL-383; THR-522; VAL-833; GLU-998 AND CYS-1048.
  5. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]