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Protein

Myosin-binding protein H

Gene

MYBPH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Binds to myosin; probably involved in interaction with thick myofilaments in the A-band.

GO - Molecular functioni

  • structural constituent of muscle Source: ProtInc

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • regulation of striated muscle contraction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Biological processi

Cell adhesion

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin-binding protein H
Short name:
MyBP-H
Alternative name(s):
H-protein
Gene namesi
Name:MYBPH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:7552. MYBPH.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Thick filament

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31352.

Polymorphism and mutation databases

BioMutaiMYBPH.
DMDMi116242667.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 477477Myosin-binding protein HPRO_0000072698Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei6 – 61PhosphothreonineBy similarity
Modified residuei26 – 261PhosphothreonineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ13203.
PRIDEiQ13203.

PTM databases

iPTMnetiQ13203.
PhosphoSiteiQ13203.

Expressioni

Tissue specificityi

Skeletal muscle.

Gene expression databases

BgeeiQ13203.
CleanExiHS_MYBPH.
ExpressionAtlasiQ13203. baseline and differential.
GenevisibleiQ13203. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ROCK1F1PU602EBI-5655165,EBI-7547361From a different organism.
ROCK1Q134642EBI-5655165,EBI-876651
TTNQ8WZ423EBI-5655165,EBI-681210

Protein-protein interaction databases

BioGridi110693. 5 interactions.
IntActiQ13203. 9 interactions.
MINTiMINT-8329446.
STRINGi9606.ENSP00000255416.

Structurei

3D structure databases

ProteinModelPortaliQ13203.
SMRiQ13203. Positions 72-363, 381-464.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini73 – 16896Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini172 – 26089Ig-like C2-type 1Add
BLAST
Domaini269 – 36496Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini382 – 46685Ig-like C2-type 2Add
BLAST

Sequence similaritiesi

Belongs to the immunoglobulin superfamily. MyBP family.Curated
Contains 2 fibronectin type-III domains.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

eggNOGiENOG410IF9Q. Eukaryota.
ENOG410YAE6. LUCA.
GeneTreeiENSGT00840000129685.
HOGENOMiHOG000290713.
HOVERGENiHBG056788.
InParanoidiQ13203.
OMAiDSQRVSM.
OrthoDBiEOG7VDXP6.
PhylomeDBiQ13203.
TreeFamiTF334735.

Family and domain databases

Gene3Di2.60.40.10. 4 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. 2 hits.
PF07679. I-set. 2 hits.
[Graphical view]
SMARTiSM00060. FN3. 2 hits.
SM00409. IG. 2 hits.
SM00408. IGc2. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
SSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 2 hits.
PS50835. IG_LIKE. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q13203-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMEKNTSEGP ACSPEETASE SAKVPTAEPP GEVAVSESTR EEQVPKPQAP
60 70 80 90 100
APQAPTASTA TKPAPPSEDV PSAPLLLTLD DVSSSSVTVS WEPPERLGRL
110 120 130 140 150
GLQGYVLELC REGASEWVPV SARPMMVTQQ TVRNLALGDK FLLRVSAVSS
160 170 180 190 200
AGAGPPAMLD QPIHIRENIE APKIRVPRHL RQTYIRQVGE TVNLQIPFQG
210 220 230 240 250
KPKPQATWTH NGHALDSQRV SMRTGDQDSI LFIRSAQRSD SGRYELTVRV
260 270 280 290 300
EDLEAKAVID ILVIEKPGPP SSIRLLDVWG CNAALQWTPP QDTGNTELLG
310 320 330 340 350
YMVQKADKKT GQWFTVLERY HPTTCTISDL IIGNSYSFRV FSENLCGLST
360 370 380 390 400
SATVTKELAH IQKADIAAKP KGFIERDFSE APSFTQPLAD HTSTPGYSTQ
410 420 430 440 450
LFCSVRASPK PKIIWMKNKM EIQGNPKYRA LSEQGVCTLE IRKPSPFDSG
460 470
VYTCKAINVL GEASVDCRLE VKASAAH
Length:477
Mass (Da):52,050
Last modified:October 17, 2006 - v4
Checksum:i2246862478EAF033
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti149 – 1502SS → RP in AAB86737 (Ref. 2) Curated
Sequence conflicti271 – 2722SS → CC in AAB86737 (Ref. 2) Curated
Sequence conflicti406 – 4116RASPKP → ELHQA in AAA36339 (PubMed:8486381).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481Q → H.2 Publications
Corresponds to variant rs2788532 [ dbSNP | Ensembl ].
VAR_028181
Natural varianti49 – 491A → G.2 Publications
Corresponds to variant rs2791721 [ dbSNP | Ensembl ].
VAR_028182
Natural varianti114 – 1141A → G.
Corresponds to variant rs2642531 [ dbSNP | Ensembl ].
VAR_028183

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L05606 mRNA. Translation: AAA36339.1.
L05607 Genomic DNA. Translation: AAA02904.2.
U27266 Genomic DNA. Translation: AAB86737.1.
BC044226 mRNA. Translation: AAH44226.1.
CCDSiCCDS30975.1.
PIRiA46118.
RefSeqiNP_004988.2. NM_004997.2.
XP_005245253.1. XM_005245196.3.
UniGeneiHs.927.

Genome annotation databases

EnsembliENST00000255416; ENSP00000255416; ENSG00000133055.
GeneIDi4608.
KEGGihsa:4608.
UCSCiuc001gzh.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L05606 mRNA. Translation: AAA36339.1.
L05607 Genomic DNA. Translation: AAA02904.2.
U27266 Genomic DNA. Translation: AAB86737.1.
BC044226 mRNA. Translation: AAH44226.1.
CCDSiCCDS30975.1.
PIRiA46118.
RefSeqiNP_004988.2. NM_004997.2.
XP_005245253.1. XM_005245196.3.
UniGeneiHs.927.

3D structure databases

ProteinModelPortaliQ13203.
SMRiQ13203. Positions 72-363, 381-464.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110693. 5 interactions.
IntActiQ13203. 9 interactions.
MINTiMINT-8329446.
STRINGi9606.ENSP00000255416.

PTM databases

iPTMnetiQ13203.
PhosphoSiteiQ13203.

Polymorphism and mutation databases

BioMutaiMYBPH.
DMDMi116242667.

Proteomic databases

PaxDbiQ13203.
PRIDEiQ13203.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000255416; ENSP00000255416; ENSG00000133055.
GeneIDi4608.
KEGGihsa:4608.
UCSCiuc001gzh.2. human.

Organism-specific databases

CTDi4608.
GeneCardsiMYBPH.
HGNCiHGNC:7552. MYBPH.
MIMi160795. gene.
neXtProtiNX_Q13203.
PharmGKBiPA31352.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF9Q. Eukaryota.
ENOG410YAE6. LUCA.
GeneTreeiENSGT00840000129685.
HOGENOMiHOG000290713.
HOVERGENiHBG056788.
InParanoidiQ13203.
OMAiDSQRVSM.
OrthoDBiEOG7VDXP6.
PhylomeDBiQ13203.
TreeFamiTF334735.

Miscellaneous databases

GenomeRNAii4608.
PROiQ13203.
SOURCEiSearch...

Gene expression databases

BgeeiQ13203.
CleanExiHS_MYBPH.
ExpressionAtlasiQ13203. baseline and differential.
GenevisibleiQ13203. HS.

Family and domain databases

Gene3Di2.60.40.10. 4 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. 2 hits.
PF07679. I-set. 2 hits.
[Graphical view]
SMARTiSM00060. FN3. 2 hits.
SM00409. IG. 2 hits.
SM00408. IGc2. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
SSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 2 hits.
PS50835. IG_LIKE. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Human myosin-binding protein H (MyBP-H): complete primary sequence, genomic organization, and chromosomal localization."
    Vaughan K.T., Weber F.E., Ried T., Ward D.C., Reinach F.C., Fischman D.A.
    Genomics 16:34-40(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS HIS-48 AND GLY-49.
    Tissue: Skeletal muscle.
  2. "Sequence of human myosin binding protein H gene."
    Whittle M.R., Fischman D.A., Reinach F.C.
    Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HIS-48 AND GLY-49.
  3. "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].
    Tissue: Uterus.

Entry informationi

Entry nameiMYBPH_HUMAN
AccessioniPrimary (citable) accession number: Q13203
Secondary accession number(s): Q16886, Q86YC5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 17, 2006
Last modified: June 8, 2016
This is version 140 of the entry and version 4 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. 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.