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Protein

Myosin-binding protein C, slow-type

Gene

MYBPC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.

GO - Molecular functioni

  • structural constituent of muscle Source: ProtInc
  • titin binding Source: BHF-UCL

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • muscle filament sliding Source: Reactome
  • positive regulation of protein targeting to mitochondrion Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

ReactomeiR-HSA-390522. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin-binding protein C, slow-type
Short name:
Slow MyBP-C
Alternative name(s):
C-protein, skeletal muscle slow isoform
Gene namesi
Name:MYBPC1
Synonyms:MYBPCS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:7549. MYBPC1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • myofibril Source: BHF-UCL
  • myosin filament Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Thick filament

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis, distal, 1B (DA1B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614335
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti161 – 1611E → K in DA1B; may affect splicing. 1 Publication
VAR_075219
Natural varianti211 – 2111W → R in DA1B. 1 Publication
VAR_067045
Natural varianti849 – 8491Y → H in DA1B. 1 Publication
VAR_067046
Lethal congenital contracture syndrome 4 (LCCS4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
See also OMIM:614915

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiMYBPC1.
MIMi614335. phenotype.
614915. phenotype.
Orphaneti1146. Digitotalar dysmorphism.
137783. Lethal congenital contracture syndrome type 3.
PharmGKBiPA31349.

Polymorphism and mutation databases

BioMutaiMYBPC1.
DMDMi6166597.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11411141Myosin-binding protein C, slow-typePRO_0000072689Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei406 – 4061PhosphothreonineBy similarity
Modified residuei611 – 6111PhosphoserineBy similarity
Modified residuei798 – 7981PhosphothreonineBy similarity
Modified residuei823 – 8231PhosphotyrosineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ00872.
PaxDbiQ00872.
PRIDEiQ00872.

PTM databases

iPTMnetiQ00872.
PhosphoSiteiQ00872.

Expressioni

Gene expression databases

BgeeiQ00872.
CleanExiHS_MYBPC1.
ExpressionAtlasiQ00872. baseline and differential.
GenevisibleiQ00872. HS.

Organism-specific databases

HPAiHPA021004.
HPA027614.

Interactioni

Subunit structurei

Interacts with USP25 (isoform USP25m only); the interaction prevents proteasomal degradation of MYBPC1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
DYSFO759234EBI-5652924,EBI-2799016
MYBPC2Q143243EBI-5652924,EBI-5653200

GO - Molecular functioni

  • titin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi110689. 11 interactions.
IntActiQ00872. 15 interactions.
MINTiMINT-4717428.
STRINGi9606.ENSP00000354849.

Structurei

Secondary structure

1
1141
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi68 – 703Combined sources
Beta strandi75 – 828Combined sources
Beta strandi86 – 883Combined sources
Beta strandi91 – 999Combined sources
Helixi102 – 1054Combined sources
Beta strandi107 – 11711Combined sources
Turni118 – 1214Combined sources
Beta strandi122 – 1298Combined sources
Beta strandi138 – 1458Combined sources
Beta strandi150 – 1534Combined sources
Beta strandi156 – 1605Combined sources
Beta strandi254 – 2563Combined sources
Beta strandi260 – 2656Combined sources
Beta strandi270 – 2789Combined sources
Beta strandi283 – 2875Combined sources
Beta strandi294 – 30310Combined sources
Beta strandi306 – 3116Combined sources
Helixi316 – 3183Combined sources
Beta strandi320 – 3267Combined sources
Beta strandi329 – 33810Combined sources
Beta strandi351 – 3544Combined sources
Beta strandi357 – 3648Combined sources
Beta strandi366 – 3694Combined sources
Beta strandi373 – 3764Combined sources
Beta strandi388 – 3947Combined sources
Beta strandi397 – 4059Combined sources
Turni407 – 4093Combined sources
Beta strandi411 – 4177Combined sources
Beta strandi420 – 42910Combined sources
Beta strandi442 – 4454Combined sources
Beta strandi452 – 4554Combined sources
Beta strandi462 – 4665Combined sources
Beta strandi475 – 4817Combined sources
Beta strandi483 – 49210Combined sources
Helixi495 – 4973Combined sources
Beta strandi499 – 50810Combined sources
Beta strandi512 – 5198Combined sources
Beta strandi722 – 7298Combined sources
Beta strandi734 – 7396Combined sources
Beta strandi749 – 75810Combined sources
Beta strandi780 – 7845Combined sources
Beta strandi792 – 7976Combined sources
Beta strandi805 – 81410Combined sources
Beta strandi938 – 9447Combined sources
Beta strandi947 – 9526Combined sources
Beta strandi968 – 9725Combined sources
Turni973 – 9753Combined sources
Beta strandi979 – 9846Combined sources
Beta strandi997 – 10059Combined sources
Beta strandi1009 – 10113Combined sources
Beta strandi1024 – 10263Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1X44NMR-A342-431[»]
2DAVNMR-A58-170[»]
2YUVNMR-A252-338[»]
2YUWNMR-A718-832[»]
2YUXNMR-A922-1034[»]
2YUZNMR-A433-519[»]
2YXMX-ray1.51A252-338[»]
ProteinModelPortaliQ00872.
SMRiQ00872. Positions 58-170, 209-242, 252-338, 342-431, 433-522, 723-832, 924-1034.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ00872.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini72 – 14473Ig-like C2-type 1Add
BLAST
Domaini251 – 34090Ig-like C2-type 2Add
BLAST
Domaini341 – 43191Ig-like C2-type 3Add
BLAST
Domaini432 – 52089Ig-like C2-type 4Add
BLAST
Domaini522 – 61998Ig-like C2-type 5Add
BLAST
Domaini622 – 721100Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini722 – 833112Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini837 – 93195Ig-like C2-type 6Add
BLAST
Domaini934 – 102996Fibronectin type-III 3PROSITE-ProRule annotationAdd
BLAST
Domaini1047 – 114195Ig-like C2-type 7Add
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

eggNOGiENOG410IFCI. Eukaryota.
ENOG4110AYI. LUCA.
GeneTreeiENSGT00840000129685.
HOGENOMiHOG000220906.
HOVERGENiHBG052560.
InParanoidiQ00872.
KOiK12557.
OMAiTIEDVWG.
OrthoDBiEOG7WX07H.
PhylomeDBiQ00872.
TreeFamiTF351819.

Family and domain databases

Gene3Di2.60.40.10. 10 hits.
InterProiIPR003961. FN3_dom.
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. 7 hits.
[Graphical view]
SMARTiSM00060. FN3. 3 hits.
SM00409. IG. 7 hits.
SM00408. IGc2. 4 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 7 hits.
SSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 3 hits.
PS50835. IG_LIKE. 4 hits.
[Graphical view]

Sequences (10)i

Sequence statusi: Complete.

This entry describes 10 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q00872-1) [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
MPEPTKKEEN EVPAPAPPPE EPSKEKEAGT TPAKDWTLVE TPPGEEQAKQ
60 70 80 90 100
NANSQLSILF IEKPQGGTVK VGEDITFIAK VKAEDLLRKP TIKWFKGKWM
110 120 130 140 150
DLASKAGKHL QLKETFERHS RVYTFEMQII KAKDNFAGNY RCEVTYKDKF
160 170 180 190 200
DSCSFDLEVH ESTGTTPNID IRSAFKRSGE GQEDAGELDF SGLLKRREVK
210 220 230 240 250
QQEEEPQVDV WELLKNAKPS EYEKIAFQYG ITDLRGMLKR LKRMRREEKK
260 270 280 290 300
SAAFAKILDP AYQVDKGGRV RFVVELADPK LEVKWYKNGQ EIRPSTKYIF
310 320 330 340 350
EHKGCQRILF INNCQMTDDS EYYVTAGDEK CSTELFVREP PIMVTKQLED
360 370 380 390 400
TTAYCGERVE LECEVSEDDA NVKWFKNGEE IIPGPKSRYR IRVEGKKHIL
410 420 430 440 450
IIEGATKADA AEYSVMTTGG QSSAKLSVDL KPLKILTPLT DQTVNLGKEI
460 470 480 490 500
CLKCEISENI PGKWTKNGLP VQESDRLKVV HKGRIHKLVI ANALTEDEGD
510 520 530 540 550
YVFAPDAYNV TLPAKVHVID PPKIILDGLD ADNTVTVIAG NKLRLEIPIS
560 570 580 590 600
GEPPPKAMWS RGDKAIMEGS GRIRTESYPD SSTLVIDIAE RDDSGVYHIN
610 620 630 640 650
LKNEAGEAHA SIKVKVVDFP DPPVAPTVTE VGDDWCIMNW EPPAYDGGSP
660 670 680 690 700
ILGYFIERKK KQSSRWMRLN FDLCKETTFE PKKMIEGVAY EVRIFAVNAI
710 720 730 740 750
GISKPSMPSR PFVPLAVTSP PTLLTVDSVT DTTVTMRWRP PDHIGAAGLD
760 770 780 790 800
GYVLEYCFEG STSAKQSDEN GEAAYDLPAE DWIVANKDLI DKTKFTITGL
810 820 830 840 850
PTDAKIFVRV KAVNAAGASE PKYYSQPILV KEIIEPPKIR IPRHLKQTYI
860 870 880 890 900
RRVGEAVNLV IPFQGKPRPE LTWKKDGAEI DKNQINIRNS ETDTIIFIRK
910 920 930 940 950
AERSHSGKYD LQVKVDKFVE TASIDIQIID RPGPPQIVKI EDVWGENVAL
960 970 980 990 1000
TWTPPKDDGN AAITGYTIQK ADKKSMEWFT VIEHYHRTSA TITELVIGNE
1010 1020 1030 1040 1050
YYFRVFSENM CGLSEDATMT KESAVIARDG KIYKNPVYED FDFSEAPMFT
1060 1070 1080 1090 1100
QPLVNTYAIA GYNATLNCSV RGNPKPKITW MKNKVAIVDD PRYRMFSNQG
1110 1120 1130 1140
VCTLEIRKPS PYDGGTYCCK AVNDLGTVEI ECKLEVKVIA Q
Length:1,141
Mass (Da):128,294
Last modified:July 15, 1999 - v2
Checksum:i8B3A91422CA9F2B2
GO
Isoform 2 (identifier: Q00872-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     34-34: K → KDEEEVSPPSALPPGLGSRALERKDS
     761-779: STSAKQSDENGEAAYDLPA → T

Show »
Length:1,148
Mass (Da):129,078
Checksum:i72727E7835F0D40B
GO
Isoform 3 (identifier: Q00872-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     761-779: STSAKQSDENGEAAYDLPA → T

Show »
Length:1,123
Mass (Da):126,460
Checksum:i591BA0B178FBC34E
GO
Isoform 4 (identifier: Q00872-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     34-34: K → KDEEEVSPPSALPPGLGSRALERKDS
     761-779: STSAKQSDENGEAAYDLPA → T
     1140-1141: AQ → YQGVNTPGQPVFLEGQQQSLHNKDF

Note: No experimental confirmation available.
Show »
Length:1,171
Mass (Da):131,693
Checksum:iAC9045F326327888
GO
Isoform 5 (identifier: Q00872-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     9-34: Missing.
     761-779: STSAKQSDENGEAAYDLPA → T
     1140-1141: AQ → YQGVNTPGQPVFLEGQQQSLHNKDF

Show »
Length:1,120
Mass (Da):126,391
Checksum:i575567B5667B51F4
GO
Isoform 6 (identifier: Q00872-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1140-1141: AQ → YQGVNTPGQPVFLEGQQQVGSPSADSSCKAYLQT

Show »
Length:1,173
Mass (Da):131,663
Checksum:iCD8FE610739C3673
GO
Isoform 7 (identifier: Q00872-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     9-34: ENEVPAPAPPPEEPSKEKEAGTTPAK → DEEEVSPPSALPP
     761-779: STSAKQSDENGEAAYDLPA → T
     1138-1141: VIAQ → GGLSFCRLLLQGVPPNIIDSYLRDLHSSNPEEY

Show »
Length:1,139
Mass (Da):128,400
Checksum:iE38F27C8493D4E99
GO
Isoform 8 (identifier: Q00872-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     8-19: Missing.
     761-779: STSAKQSDENGEAAYDLPA → T
     1140-1141: AQ → YQGVNTPGQPVFLEGQQQSLHNKDF

Show »
Length:1,134
Mass (Da):127,846
Checksum:iA82E89555116CCC9
GO
Isoform 9 (identifier: Q00872-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     176-194: Missing.
     761-779: STSAKQSDENGEAAYDLPA → T
     1140-1141: AQ → YQGVNTPGQPVFLEGQQQSLHNKDF

Show »
Length:1,127
Mass (Da):127,084
Checksum:i191098988F4AB122
GO
Isoform 10 (identifier: Q00872-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     761-779: STSAKQSDENGEAAYDLPA → T
     1140-1141: AQ → YQGVNTPGQPVFLEGQQQSLHNKDF

Show »
Length:1,146
Mass (Da):129,074
Checksum:i73BEF2496BACAF93
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti87 – 882LR → SE in CAA46987 (PubMed:1429890).Curated
Sequence conflicti93 – 975KWFKG → NGSR in CAA46987 (PubMed:1429890).Curated
Sequence conflicti146 – 1461Y → H in BAG59277 (PubMed:14702039).Curated
Sequence conflicti217 – 2171A → T in CAA46987 (PubMed:1429890).Curated
Sequence conflicti230 – 2356GITDLR → ESPTCS in CAA46987 (PubMed:1429890).Curated
Sequence conflicti244 – 2452MR → SI in CAA46987 (PubMed:1429890).Curated
Sequence conflicti261 – 2611A → V in CAA46987 (PubMed:1429890).Curated
Sequence conflicti286 – 2861Y → N in CAA46987 (PubMed:1429890).Curated
Sequence conflicti292 – 2921I → L in CAA46987 (PubMed:1429890).Curated
Sequence conflicti302 – 31211HKGCQRILFIN → DTRCQSILNID in CAA46987 (PubMed:1429890).CuratedAdd
BLAST
Sequence conflicti336 – 3361F → L in CAA46987 (PubMed:1429890).Curated
Sequence conflicti353 – 3531A → D in CAA46987 (PubMed:1429890).Curated
Sequence conflicti371 – 3711N → Q in CAA46987 (PubMed:1429890).Curated
Sequence conflicti383 – 3875PGPKS → LVQT in CAA46987 (PubMed:1429890).Curated
Sequence conflicti412 – 4121E → D in CAA46987 (PubMed:1429890).Curated
Sequence conflicti421 – 4211Q → L in CAD91144 (PubMed:17974005).Curated
Sequence conflicti491 – 4922AN → DH in CAA46987 (PubMed:1429890).Curated
Sequence conflicti752 – 7521Y → C in CAD89907 (PubMed:17974005).Curated
Sequence conflicti752 – 7521Y → H in CAD38925 (PubMed:17974005).Curated
Sequence conflicti840 – 8434RIPR → HSPK in CAA46987 (PubMed:1429890).Curated
Sequence conflicti855 – 8584EAVN → DRVI in CAA46987 (PubMed:1429890).Curated
Sequence conflicti925 – 9251D → G in BAH13954 (PubMed:14702039).Curated
Sequence conflicti927 – 9271Q → R in CAA46987 (PubMed:1429890).Curated
Sequence conflicti946 – 9461E → R in CAA46987 (PubMed:1429890).Curated
Sequence conflicti979 – 9802FT → LR in CAA46987 (PubMed:1429890).Curated
Sequence conflicti985 – 9928YHRTSATI → IIEPVPH in CAA46987 (PubMed:1429890).Curated
Sequence conflicti1056 – 10638TYAIAGYN → RLCHSGYM in CAA46987 (PubMed:1429890).Curated
Sequence conflicti1099 – 10991Q → L in CAA46987 (PubMed:1429890).Curated
Sequence conflicti1107 – 11071R → G in CAA46987 (PubMed:1429890).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti161 – 1611E → K in DA1B; may affect splicing. 1 Publication
VAR_075219
Natural varianti211 – 2111W → R in DA1B. 1 Publication
VAR_067045
Natural varianti481 – 4811H → Q.
Corresponds to variant rs3817552 [ dbSNP | Ensembl ].
VAR_021923
Natural varianti849 – 8491Y → H in DA1B. 1 Publication
VAR_067046

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei8 – 1912Missing in isoform 8. 1 PublicationVSP_046735Add
BLAST
Alternative sequencei9 – 3426Missing in isoform 5. 2 PublicationsVSP_046736Add
BLAST
Alternative sequencei9 – 3426ENEVP…TTPAK → DEEEVSPPSALPP in isoform 7. 1 PublicationVSP_046737Add
BLAST
Alternative sequencei34 – 341K → KDEEEVSPPSALPPGLGSRA LERKDS in isoform 2 and isoform 4. 1 PublicationVSP_039105
Alternative sequencei176 – 19419Missing in isoform 9. 1 PublicationVSP_046738Add
BLAST
Alternative sequencei761 – 77919STSAK…YDLPA → T in isoform 2, isoform 3, isoform 4, isoform 5, isoform 7, isoform 8, isoform 9 and isoform 10. 4 PublicationsVSP_039106Add
BLAST
Alternative sequencei1138 – 11414VIAQ → GGLSFCRLLLQGVPPNIIDS YLRDLHSSNPEEY in isoform 7. 1 PublicationVSP_046739
Alternative sequencei1140 – 11412AQ → YQGVNTPGQPVFLEGQQQSL HNKDF in isoform 4, isoform 5, isoform 8, isoform 9 and isoform 10. 3 PublicationsVSP_045241
Alternative sequencei1140 – 11412AQ → YQGVNTPGQPVFLEGQQQVG SPSADSSCKAYLQT in isoform 6. 2 PublicationsVSP_046740

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X66276 mRNA. Translation: CAA46987.1.
X73114 mRNA. Translation: CAA51545.1.
AK295727 mRNA. Translation: BAG58568.1.
AK296681 mRNA. Translation: BAG59277.1.
AK303401 mRNA. Translation: BAH13954.1.
AL831993 mRNA. Translation: CAD89907.1.
AL832000 mRNA. Translation: CAD91144.1.
AL834249 mRNA. Translation: CAD38925.1.
AC010205 Genomic DNA. No translation available.
AC090671 Genomic DNA. No translation available.
AC117505 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW97665.1.
CH471054 Genomic DNA. Translation: EAW97669.1.
CH471054 Genomic DNA. Translation: EAW97672.1.
BC092418 mRNA. Translation: AAH92418.1.
BC117217 mRNA. Translation: AAI17218.1.
BC143495 mRNA. Translation: AAI43496.1.
BC143502 mRNA. Translation: AAI43503.1.
BC143503 mRNA. Translation: AAI43504.1.
BC143504 mRNA. Translation: AAI43505.1.
CCDSiCCDS55877.1. [Q00872-3]
CCDS58268.1. [Q00872-6]
CCDS58269.1. [Q00872-10]
CCDS58270.1. [Q00872-9]
CCDS58271.1. [Q00872-8]
CCDS58272.1. [Q00872-7]
CCDS58273.1. [Q00872-5]
CCDS9083.1. [Q00872-4]
CCDS9084.1. [Q00872-2]
CCDS9085.1. [Q00872-1]
PIRiS24614.
S36846.
RefSeqiNP_001241647.1. NM_001254718.1. [Q00872-6]
NP_001241648.1. NM_001254719.1. [Q00872-10]
NP_001241649.1. NM_001254720.1. [Q00872-8]
NP_001241650.1. NM_001254721.1. [Q00872-9]
NP_001241651.1. NM_001254722.1. [Q00872-5]
NP_001241652.1. NM_001254723.1. [Q00872-7]
NP_002456.2. NM_002465.3. [Q00872-4]
NP_996555.1. NM_206819.2. [Q00872-2]
NP_996556.1. NM_206820.2. [Q00872-1]
NP_996557.1. NM_206821.2. [Q00872-3]
UniGeneiHs.654589.

Genome annotation databases

EnsembliENST00000361466; ENSP00000354849; ENSG00000196091. [Q00872-4]
ENST00000361685; ENSP00000354845; ENSG00000196091. [Q00872-2]
ENST00000392934; ENSP00000376665; ENSG00000196091. [Q00872-7]
ENST00000452455; ENSP00000400908; ENSG00000196091. [Q00872-6]
ENST00000536007; ENSP00000446128; ENSG00000196091. [Q00872-9]
ENST00000541119; ENSP00000442847; ENSG00000196091. [Q00872-8]
ENST00000545503; ENSP00000440034; ENSG00000196091. [Q00872-10]
ENST00000547405; ENSP00000448175; ENSG00000196091. [Q00872-5]
ENST00000550270; ENSP00000449702; ENSG00000196091. [Q00872-1]
ENST00000553190; ENSP00000447900; ENSG00000196091. [Q00872-3]
GeneIDi4604.
KEGGihsa:4604.
UCSCiuc001tig.4. human. [Q00872-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X66276 mRNA. Translation: CAA46987.1.
X73114 mRNA. Translation: CAA51545.1.
AK295727 mRNA. Translation: BAG58568.1.
AK296681 mRNA. Translation: BAG59277.1.
AK303401 mRNA. Translation: BAH13954.1.
AL831993 mRNA. Translation: CAD89907.1.
AL832000 mRNA. Translation: CAD91144.1.
AL834249 mRNA. Translation: CAD38925.1.
AC010205 Genomic DNA. No translation available.
AC090671 Genomic DNA. No translation available.
AC117505 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW97665.1.
CH471054 Genomic DNA. Translation: EAW97669.1.
CH471054 Genomic DNA. Translation: EAW97672.1.
BC092418 mRNA. Translation: AAH92418.1.
BC117217 mRNA. Translation: AAI17218.1.
BC143495 mRNA. Translation: AAI43496.1.
BC143502 mRNA. Translation: AAI43503.1.
BC143503 mRNA. Translation: AAI43504.1.
BC143504 mRNA. Translation: AAI43505.1.
CCDSiCCDS55877.1. [Q00872-3]
CCDS58268.1. [Q00872-6]
CCDS58269.1. [Q00872-10]
CCDS58270.1. [Q00872-9]
CCDS58271.1. [Q00872-8]
CCDS58272.1. [Q00872-7]
CCDS58273.1. [Q00872-5]
CCDS9083.1. [Q00872-4]
CCDS9084.1. [Q00872-2]
CCDS9085.1. [Q00872-1]
PIRiS24614.
S36846.
RefSeqiNP_001241647.1. NM_001254718.1. [Q00872-6]
NP_001241648.1. NM_001254719.1. [Q00872-10]
NP_001241649.1. NM_001254720.1. [Q00872-8]
NP_001241650.1. NM_001254721.1. [Q00872-9]
NP_001241651.1. NM_001254722.1. [Q00872-5]
NP_001241652.1. NM_001254723.1. [Q00872-7]
NP_002456.2. NM_002465.3. [Q00872-4]
NP_996555.1. NM_206819.2. [Q00872-2]
NP_996556.1. NM_206820.2. [Q00872-1]
NP_996557.1. NM_206821.2. [Q00872-3]
UniGeneiHs.654589.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1X44NMR-A342-431[»]
2DAVNMR-A58-170[»]
2YUVNMR-A252-338[»]
2YUWNMR-A718-832[»]
2YUXNMR-A922-1034[»]
2YUZNMR-A433-519[»]
2YXMX-ray1.51A252-338[»]
ProteinModelPortaliQ00872.
SMRiQ00872. Positions 58-170, 209-242, 252-338, 342-431, 433-522, 723-832, 924-1034.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110689. 11 interactions.
IntActiQ00872. 15 interactions.
MINTiMINT-4717428.
STRINGi9606.ENSP00000354849.

PTM databases

iPTMnetiQ00872.
PhosphoSiteiQ00872.

Polymorphism and mutation databases

BioMutaiMYBPC1.
DMDMi6166597.

Proteomic databases

EPDiQ00872.
PaxDbiQ00872.
PRIDEiQ00872.

Protocols and materials databases

DNASUi4604.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361466; ENSP00000354849; ENSG00000196091. [Q00872-4]
ENST00000361685; ENSP00000354845; ENSG00000196091. [Q00872-2]
ENST00000392934; ENSP00000376665; ENSG00000196091. [Q00872-7]
ENST00000452455; ENSP00000400908; ENSG00000196091. [Q00872-6]
ENST00000536007; ENSP00000446128; ENSG00000196091. [Q00872-9]
ENST00000541119; ENSP00000442847; ENSG00000196091. [Q00872-8]
ENST00000545503; ENSP00000440034; ENSG00000196091. [Q00872-10]
ENST00000547405; ENSP00000448175; ENSG00000196091. [Q00872-5]
ENST00000550270; ENSP00000449702; ENSG00000196091. [Q00872-1]
ENST00000553190; ENSP00000447900; ENSG00000196091. [Q00872-3]
GeneIDi4604.
KEGGihsa:4604.
UCSCiuc001tig.4. human. [Q00872-1]

Organism-specific databases

CTDi4604.
GeneCardsiMYBPC1.
HGNCiHGNC:7549. MYBPC1.
HPAiHPA021004.
HPA027614.
MalaCardsiMYBPC1.
MIMi160794. gene.
614335. phenotype.
614915. phenotype.
neXtProtiNX_Q00872.
Orphaneti1146. Digitotalar dysmorphism.
137783. Lethal congenital contracture syndrome type 3.
PharmGKBiPA31349.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFCI. Eukaryota.
ENOG4110AYI. LUCA.
GeneTreeiENSGT00840000129685.
HOGENOMiHOG000220906.
HOVERGENiHBG052560.
InParanoidiQ00872.
KOiK12557.
OMAiTIEDVWG.
OrthoDBiEOG7WX07H.
PhylomeDBiQ00872.
TreeFamiTF351819.

Enzyme and pathway databases

ReactomeiR-HSA-390522. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSiMYBPC1. human.
EvolutionaryTraceiQ00872.
GeneWikiiMYBPC1.
GenomeRNAii4604.
NextBioi17714.
PROiQ00872.
SOURCEiSearch...

Gene expression databases

BgeeiQ00872.
CleanExiHS_MYBPC1.
ExpressionAtlasiQ00872. baseline and differential.
GenevisibleiQ00872. HS.

Family and domain databases

Gene3Di2.60.40.10. 10 hits.
InterProiIPR003961. FN3_dom.
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. 7 hits.
[Graphical view]
SMARTiSM00060. FN3. 3 hits.
SM00409. IG. 7 hits.
SM00408. IGc2. 4 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 7 hits.
SSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 3 hits.
PS50835. IG_LIKE. 4 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Mammalian skeletal muscle C-protein: purification from bovine muscle, binding to titin and the characterization of a full-length human cDNA."
    Fuerst D.O., Vinkemeier U., Weber K.
    J. Cell Sci. 102:769-778(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Fetal skeletal muscle.
  2. "Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment."
    Weber F.E., Vaughan K.T., Reinach F.C., Fischman D.A.
    Eur. J. Biochem. 216:661-669(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    Tissue: Fetal skeletal muscle.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5; 6 AND 7).
    Tissue: Hippocampus, Thymus and Tongue.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
    Tissue: Skeletal muscle.
  5. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE 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]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 5; 6; 8; 9 AND 10).
    Tissue: Brain and Pancreas.
  8. "The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins."
    Bosch-Comas A., Lindsten K., Gonzalez-Duarte R., Masucci M.G., Marfany G.
    Cell. Mol. Life Sci. 63:723-734(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH USP25.
  9. "Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1."
    Markus B., Narkis G., Landau D., Birk R.Z., Cohen I., Birk O.S.
    Hum. Mutat. 33:1435-1438(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN LCCS4.
  10. "Solution structure of the first and third Ig-like domain of myosin-binding protein C, slow-type."
    RIKEN structural genomics initiative (RSGI)
    Submitted (JUN-2006) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 58-170 AND 342-431.
  11. Cited for: VARIANTS DA1B ARG-211 AND HIS-849.
  12. "Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita."
    Ekhilevitch N., Kurolap A., Oz-Levi D., Mory A., Hershkovitz T., Ast G., Mandel H., Baris H.N.
    Clin. Genet. 0:0-0(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DA1B LYS-161.

Entry informationi

Entry nameiMYPC1_HUMAN
AccessioniPrimary (citable) accession number: Q00872
Secondary accession number(s): B4DKR5
, B7Z8G8, B7ZL02, B7ZL09, B7ZL10, E7ESM5, E7EWS6, G3XAE8, Q15497, Q17RR7, Q569K7, Q86T48, Q86TC8, Q8N3L2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: July 15, 1999
Last modified: May 11, 2016
This is version 150 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.