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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

BioCyciZFISH:G66-30705-MONOMER.
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_075219161E → K in DA1B; may affect splicing. 1 Publication1
Natural variantiVAR_067045211W → R in DA1B. 1 PublicationCorresponds to variant rs387906657dbSNPEnsembl.1
Natural variantiVAR_067046849Y → H in DA1B. 1 PublicationCorresponds to variant rs387906658dbSNPEnsembl.1
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

DisGeNETi4604.
MalaCardsiMYBPC1.
MIMi614335. phenotype.
614915. phenotype.
OpenTargetsiENSG00000196091.
Orphaneti1146. Digitotalar dysmorphism.
137783. Lethal congenital contracture syndrome type 3.
PharmGKBiPA31349.

Polymorphism and mutation databases

BioMutaiMYBPC1.
DMDMi6166597.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000726891 – 1141Myosin-binding protein C, slow-typeAdd BLAST1141

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei406PhosphothreonineBy similarity1
Modified residuei611PhosphoserineBy similarity1
Modified residuei798PhosphothreonineBy similarity1
Modified residuei823PhosphotyrosineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ00872.
PeptideAtlasiQ00872.
PRIDEiQ00872.

PTM databases

iPTMnetiQ00872.
PhosphoSitePlusiQ00872.

Expressioni

Gene expression databases

BgeeiENSG00000196091.
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 interactors.
IntActiQ00872. 15 interactors.
MINTiMINT-4717428.
STRINGi9606.ENSP00000354849.

Structurei

Secondary structure

11141
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi68 – 70Combined sources3
Beta strandi75 – 82Combined sources8
Beta strandi86 – 88Combined sources3
Beta strandi91 – 99Combined sources9
Helixi102 – 105Combined sources4
Beta strandi107 – 117Combined sources11
Turni118 – 121Combined sources4
Beta strandi122 – 129Combined sources8
Beta strandi138 – 145Combined sources8
Beta strandi150 – 153Combined sources4
Beta strandi156 – 160Combined sources5
Beta strandi254 – 256Combined sources3
Beta strandi260 – 265Combined sources6
Beta strandi270 – 278Combined sources9
Beta strandi283 – 287Combined sources5
Beta strandi294 – 303Combined sources10
Beta strandi306 – 311Combined sources6
Helixi316 – 318Combined sources3
Beta strandi320 – 326Combined sources7
Beta strandi329 – 338Combined sources10
Beta strandi351 – 354Combined sources4
Beta strandi357 – 364Combined sources8
Beta strandi366 – 369Combined sources4
Beta strandi373 – 376Combined sources4
Beta strandi388 – 394Combined sources7
Beta strandi397 – 405Combined sources9
Turni407 – 409Combined sources3
Beta strandi411 – 417Combined sources7
Beta strandi420 – 429Combined sources10
Beta strandi442 – 445Combined sources4
Beta strandi452 – 455Combined sources4
Beta strandi462 – 466Combined sources5
Beta strandi475 – 481Combined sources7
Beta strandi483 – 492Combined sources10
Helixi495 – 497Combined sources3
Beta strandi499 – 508Combined sources10
Beta strandi512 – 519Combined sources8
Beta strandi722 – 729Combined sources8
Beta strandi734 – 739Combined sources6
Beta strandi749 – 758Combined sources10
Beta strandi780 – 784Combined sources5
Beta strandi792 – 797Combined sources6
Beta strandi805 – 814Combined sources10
Beta strandi938 – 944Combined sources7
Beta strandi947 – 952Combined sources6
Beta strandi968 – 972Combined sources5
Turni973 – 975Combined sources3
Beta strandi979 – 984Combined sources6
Beta strandi997 – 1005Combined sources9
Beta strandi1009 – 1011Combined sources3
Beta strandi1024 – 1026Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ00872.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini72 – 144Ig-like C2-type 1Add BLAST73
Domaini251 – 340Ig-like C2-type 2Add BLAST90
Domaini341 – 431Ig-like C2-type 3Add BLAST91
Domaini432 – 520Ig-like C2-type 4Add BLAST89
Domaini522 – 619Ig-like C2-type 5Add BLAST98
Domaini622 – 721Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST100
Domaini722 – 833Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST112
Domaini837 – 931Ig-like C2-type 6Add BLAST95
Domaini934 – 1029Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST96
Domaini1047 – 1141Ig-like C2-type 7Add BLAST95

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.
GeneTreeiENSGT00860000133685.
HOGENOMiHOG000220906.
HOVERGENiHBG052560.
InParanoidiQ00872.
KOiK12557.
OMAiEVGDDWC.
OrthoDBiEOG091G00ND.
PhylomeDBiQ00872.
TreeFamiTF351819.

Family and domain databases

CDDicd00063. FN3. 3 hits.
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)DescriptionActionsGraphical viewLength
Sequence conflicti87 – 88LR → SE in CAA46987 (PubMed:1429890).Curated2
Sequence conflicti93 – 97KWFKG → NGSR in CAA46987 (PubMed:1429890).Curated5
Sequence conflicti146Y → H in BAG59277 (PubMed:14702039).Curated1
Sequence conflicti217A → T in CAA46987 (PubMed:1429890).Curated1
Sequence conflicti230 – 235GITDLR → ESPTCS in CAA46987 (PubMed:1429890).Curated6
Sequence conflicti244 – 245MR → SI in CAA46987 (PubMed:1429890).Curated2
Sequence conflicti261A → V in CAA46987 (PubMed:1429890).Curated1
Sequence conflicti286Y → N in CAA46987 (PubMed:1429890).Curated1
Sequence conflicti292I → L in CAA46987 (PubMed:1429890).Curated1
Sequence conflicti302 – 312HKGCQRILFIN → DTRCQSILNID in CAA46987 (PubMed:1429890).CuratedAdd BLAST11
Sequence conflicti336F → L in CAA46987 (PubMed:1429890).Curated1
Sequence conflicti353A → D in CAA46987 (PubMed:1429890).Curated1
Sequence conflicti371N → Q in CAA46987 (PubMed:1429890).Curated1
Sequence conflicti383 – 387PGPKS → LVQT in CAA46987 (PubMed:1429890).Curated5
Sequence conflicti412E → D in CAA46987 (PubMed:1429890).Curated1
Sequence conflicti421Q → L in CAD91144 (PubMed:17974005).Curated1
Sequence conflicti491 – 492AN → DH in CAA46987 (PubMed:1429890).Curated2
Sequence conflicti752Y → C in CAD89907 (PubMed:17974005).Curated1
Sequence conflicti752Y → H in CAD38925 (PubMed:17974005).Curated1
Sequence conflicti840 – 843RIPR → HSPK in CAA46987 (PubMed:1429890).Curated4
Sequence conflicti855 – 858EAVN → DRVI in CAA46987 (PubMed:1429890).Curated4
Sequence conflicti925D → G in BAH13954 (PubMed:14702039).Curated1
Sequence conflicti927Q → R in CAA46987 (PubMed:1429890).Curated1
Sequence conflicti946E → R in CAA46987 (PubMed:1429890).Curated1
Sequence conflicti979 – 980FT → LR in CAA46987 (PubMed:1429890).Curated2
Sequence conflicti985 – 992YHRTSATI → IIEPVPH in CAA46987 (PubMed:1429890).Curated8
Sequence conflicti1056 – 1063TYAIAGYN → RLCHSGYM in CAA46987 (PubMed:1429890).Curated8
Sequence conflicti1099Q → L in CAA46987 (PubMed:1429890).Curated1
Sequence conflicti1107R → G in CAA46987 (PubMed:1429890).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075219161E → K in DA1B; may affect splicing. 1 Publication1
Natural variantiVAR_067045211W → R in DA1B. 1 PublicationCorresponds to variant rs387906657dbSNPEnsembl.1
Natural variantiVAR_021923481H → Q.Corresponds to variant rs3817552dbSNPEnsembl.1
Natural variantiVAR_067046849Y → H in DA1B. 1 PublicationCorresponds to variant rs387906658dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0467358 – 19Missing in isoform 8. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_0467369 – 34Missing in isoform 5. 2 PublicationsAdd BLAST26
Alternative sequenceiVSP_0467379 – 34ENEVP…TTPAK → DEEEVSPPSALPP in isoform 7. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_03910534K → KDEEEVSPPSALPPGLGSRA LERKDS in isoform 2 and isoform 4. 1 Publication1
Alternative sequenceiVSP_046738176 – 194Missing in isoform 9. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_039106761 – 779STSAK…YDLPA → T in isoform 2, isoform 3, isoform 4, isoform 5, isoform 7, isoform 8, isoform 9 and isoform 10. 4 PublicationsAdd BLAST19
Alternative sequenceiVSP_0467391138 – 1141VIAQ → GGLSFCRLLLQGVPPNIIDS YLRDLHSSNPEEY in isoform 7. 1 Publication4
Alternative sequenceiVSP_0452411140 – 1141AQ → YQGVNTPGQPVFLEGQQQSL HNKDF in isoform 4, isoform 5, isoform 8, isoform 9 and isoform 10. 3 Publications2
Alternative sequenceiVSP_0467401140 – 1141AQ → YQGVNTPGQPVFLEGQQQVG SPSADSSCKAYLQT in isoform 6. 2 Publications2

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
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ00872.
PhosphoSitePlusiQ00872.

Polymorphism and mutation databases

BioMutaiMYBPC1.
DMDMi6166597.

Proteomic databases

PaxDbiQ00872.
PeptideAtlasiQ00872.
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.
DisGeNETi4604.
GeneCardsiMYBPC1.
HGNCiHGNC:7549. MYBPC1.
HPAiHPA021004.
HPA027614.
MalaCardsiMYBPC1.
MIMi160794. gene.
614335. phenotype.
614915. phenotype.
neXtProtiNX_Q00872.
OpenTargetsiENSG00000196091.
Orphaneti1146. Digitotalar dysmorphism.
137783. Lethal congenital contracture syndrome type 3.
PharmGKBiPA31349.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFCI. Eukaryota.
ENOG4110AYI. LUCA.
GeneTreeiENSGT00860000133685.
HOGENOMiHOG000220906.
HOVERGENiHBG052560.
InParanoidiQ00872.
KOiK12557.
OMAiEVGDDWC.
OrthoDBiEOG091G00ND.
PhylomeDBiQ00872.
TreeFamiTF351819.

Enzyme and pathway databases

BioCyciZFISH:G66-30705-MONOMER.
ReactomeiR-HSA-390522. Striated Muscle Contraction.

Miscellaneous databases

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

Gene expression databases

BgeeiENSG00000196091.
CleanExiHS_MYBPC1.
ExpressionAtlasiQ00872. baseline and differential.
GenevisibleiQ00872. HS.

Family and domain databases

CDDicd00063. FN3. 3 hits.
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...

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: November 30, 2016
This is version 156 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.