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P52179 (MYOM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myomesin-1
Alternative name(s):
190 kDa connectin-associated protein
190 kDa titin-associated protein
Myomesin family member 1
Gene names
Name:MYOM1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1685 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.

Subunit structure

Homodimer By similarity. Interacts with TTN/titin By similarity. Interacts with PNKD. Ref.6

Subcellular location

CytoplasmmyofibrilsarcomereM line By similarity.

Sequence similarities

Contains 5 fibronectin type-III domains.

Contains 5 Ig-like C2-type (immunoglobulin-like) domains.

Sequence caution

The sequence CAA48833.1 differs from that shown. Reason: Erroneous initiation.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

itself4EBI-5353249,EBI-5353249
DYSFO759233EBI-5353249,EBI-2799016

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P52179-1)

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.
Isoform 2 (identifier: P52179-2)

The sequence of this isoform differs from the canonical sequence as follows:
     836-931: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16851685Myomesin-1
PRO_0000072684

Regions

Repeat182 – 18761
Repeat188 – 19362
Repeat194 – 19963
Repeat200 – 20564
Repeat206 – 21165
Repeat212 – 21766
Domain277 – 36892Ig-like C2-type 1
Domain396 – 498103Ig-like C2-type 2
Domain512 – 60796Fibronectin type-III 1
Domain640 – 73495Fibronectin type-III 2
Domain741 – 83494Fibronectin type-III 3
Domain933 – 1034102Fibronectin type-III 4
Domain1041 – 1140100Fibronectin type-III 5
Domain1132 – 123099Ig-like C2-type 3
Domain1358 – 144487Ig-like C2-type 4
Domain1573 – 166290Ig-like C2-type 5
Region182 – 217366 X 6 AA tandem repeats

Amino acid modifications

Disulfide bond1160 ↔ 1210 By similarity

Natural variations

Alternative sequence836 – 93196Missing in isoform 2.
VSP_035663
Natural variant221V → L.
Corresponds to variant rs1791085 [ dbSNP | Ensembl ].
VAR_047221
Natural variant1811S → P. Ref.2 Ref.4 Ref.5
Corresponds to variant rs1962519 [ dbSNP | Ensembl ].
VAR_047222
Natural variant2151T → M.
Corresponds to variant rs2230165 [ dbSNP | Ensembl ].
VAR_047223
Natural variant3411G → A. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs8099021 [ dbSNP | Ensembl ].
VAR_047224
Natural variant6001E → V.
Corresponds to variant rs9807556 [ dbSNP | Ensembl ].
VAR_047225
Natural variant9601I → T. Ref.1 Ref.2 Ref.5
Corresponds to variant rs1071600 [ dbSNP | Ensembl ].
VAR_047226
Natural variant14081D → N.
Corresponds to variant rs3765623 [ dbSNP | Ensembl ].
VAR_047227
Natural variant14531M → T.
Corresponds to variant rs16944397 [ dbSNP | Ensembl ].
VAR_047228

Experimental info

Sequence conflict2471E → G in CAA48833. Ref.5
Sequence conflict4421Q → R in CAA48833. Ref.5
Sequence conflict5991S → F in AAI16184. Ref.4
Sequence conflict6011P → A in CAA48833. Ref.5
Sequence conflict6151S → G in AAI16184. Ref.4
Sequence conflict616 – 62510RPSAPWTGQI → PLSTLDWTV in CAA48833. Ref.5
Sequence conflict7761S → N in CAA48833. Ref.5
Sequence conflict793 – 7942GS → TH in CAA48833. Ref.5
Sequence conflict9921S → R in CAA48833. Ref.5
Sequence conflict10011L → S in BAC86128. Ref.2
Sequence conflict10801Missing in CAA48833. Ref.5
Sequence conflict11411T → R in CAA48833. Ref.5
Sequence conflict1615 – 16162SD → QT in CAA48833. Ref.5
Sequence conflict16171D → G in BAC86128. Ref.2

Secondary structure

..................................................................................................... 1685
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 4, 2008. Version 2.
Checksum: F0DBB25EB6323DF8

FASTA1,685187,627
        10         20         30         40         50         60 
MSLPFYQRCH QHYDLSYRNK DVRSTVSHYQ REKKRSAVYT QGSTAYSSRS SAAHRRESEA 

        70         80         90        100        110        120 
FRRASASSSQ QQASQHALSS EVSRKAASAY DYGSSHGLTD SSLLLDDYSS KLSPKPKRAK 

       130        140        150        160        170        180 
HSLLSGEEKE NLPSDYMVPI FSGRQKHVSG ITDTEEERIK EAAAYIAQRN LLASEEGITT 

       190        200        210        220        230        240 
SKQSTASKQT TASKQSTASK QSTASKQSTA SRQSTASRQS VVSKQATSAL QQEETSEKKS 

       250        260        270        280        290        300 
RKVVIREKAE RLSLRKTLEE TETYHAKLNE DHLLHAPEFI IKPRSHTVWE KENVKLHCSI 

       310        320        330        340        350        360 
AGWPEPRVTW YKNQVPINVH ANPGKYIIES RYGMHTLEIN GCDFEDTAQY RASAMNVKGE 

       370        380        390        400        410        420 
LSAYASVVVK RYKGEFDETR FHAGASTMPL SFGVTPYGYA SRFEIHFDDK FDVSFGREGE 

       430        440        450        460        470        480 
TMSLGCRVVI TPEIKHFQPE IQWYRNGVPL SPSKWVQTLW SGERATLTFS HLNKEDEGLY 

       490        500        510        520        530        540 
TIRVRMGEYY EQYSAYVFVR DADAEIEGAP AAPLDVKCLE ANKDYIIISW KQPAVDGGSP 

       550        560        570        580        590        600 
ILGYFIDKCE VGTDSWSQCN DTPVKFARFP VTGLIEGRSY IFRVRAVNKM GIGFPSRVSE 

       610        620        630        640        650        660 
PVAALDPAEK ARLKSRPSAP WTGQIIVTEE EPSEGIVPGP PTDLSVTEAT RSYVVLSWKP 

       670        680        690        700        710        720 
PGQRGHEGIM YFVEKCEAGT ENWQRVNTEL PVKSPRFALF DLAEGKSYCF RVRCSNSAGV 

       730        740        750        760        770        780 
GEPSEATEVT VVGDKLDIPK APGKIIPSRN TDTSVVVSWE ESKDAKELVG YYIEASVAGS 

       790        800        810        820        830        840 
GKWEPCNNNP VKGSRFTCHG LVTGQSYIFR VRAVNAAGLS EYSQDSEAIE VKAAIGGGVS 

       850        860        870        880        890        900 
PDVCPALSDE PGGLTASRGR VHEASPPTFQ KDALLGSKPN KPSLPSSSQN LGQTEVSKVS 

       910        920        930        940        950        960 
ETVQEELTPP PQKAAPQGKS KSDPLKKKTD RAPPSPPCDI TCLESFRDSM VLGWKQPDKI 

       970        980        990       1000       1010       1020 
GGAEITGYYV NYREVIDGVP GKWREANVKA VSEEAYKISN LKENMVYQFQ VAAMNMAGLG 

      1030       1040       1050       1060       1070       1080 
APSAVSECFK CEEWTIAVPG PPHSLKCSEV RKDSLVLQWK PPVHSGRTPV TGYFVDLKEA 

      1090       1100       1110       1120       1130       1140 
KAKEDQWRGL NEAAIKNVYL KVRGLKEGVS YVFRVRAINQ AGVGKPSDLA GPVVAETRPG 

      1150       1160       1170       1180       1190       1200 
TKEVVVNVDD DGVISLNFEC DKMTPKSEFS WSKDYVSTED SPRLEVESKG NKTKMTFKDL 

      1210       1220       1230       1240       1250       1260 
GMDDLGIYSC DVTDTDGIAS SYLIDEEELK RLLALSHEHK FPTVPVKSEL AVEILEKGQV 

      1270       1280       1290       1300       1310       1320 
RFWMQAEKLS GNAKVNYIFN EKEIFEGPKY KMHIDRNTGI IEMFMEKLQD EDEGTYTFQL 

      1330       1340       1350       1360       1370       1380 
QDGKATNHST VVLVGDVFKK LQKEAEFQRQ EWIRKQGPHF VEYLSWEVTG ECNVLLKCKV 

      1390       1400       1410       1420       1430       1440 
ANIKKETHIV WYKDEREISV DEKHDFKDGI CTLLITEFSK KDAGIYEVIL KDDRGKDKSR 

      1450       1460       1470       1480       1490       1500 
LKLVDEAFKE LMMEVCKKIA LSATDLKIQS TAEGIQLYSF VTYYVEDLKV NWSHNGSAIR 

      1510       1520       1530       1540       1550       1560 
YSDRVKTGVT GEQIWLQINE PTPNDKGKYV MELFDGKTGH QKTVDLSGQA YDEAYAEFQR 

      1570       1580       1590       1600       1610       1620 
LKQAAIAEKN RARVLGGLPD VVTIQEGKAL NLTCNVWGDP PPEVSWLKNE KALASDDHCN 

      1630       1640       1650       1660       1670       1680 
LKFEAGRTAY FTINGVSTAD SGKYGLVVKN KYGSETSDFT VSVFIPEEEA RMAALESLKG 


GKKAK 

« Hide

Isoform 2 [UniParc].

Checksum: AB161B6C31ED4FDC
Show »

FASTA1,589177,700

References

« Hide 'large scale' references
[1]"SUMO modification of the M-band protein myomesin."
Hayess K., Matschke K., Fuerst D.O.
Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ALA-341 AND THR-960.
Tissue: Skeletal muscle.
[2]"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. expand/collapse author list , 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] (ISOFORM 1), VARIANTS PRO-181; ALA-341 AND THR-960.
[3]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORM 2), VARIANTS PRO-181 AND ALA-341.
[5]"The globular head domain of titin extends into the center of the sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron microscopy of two titin-associated proteins."
Vinkemeier U., Obermann W., Weber K., Fuerst D.O.
J. Cell Sci. 106:319-330(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 99-1685 (ISOFORM 2), VARIANTS PRO-181; ALA-341 AND THR-960.
Tissue: Skeletal muscle.
[6]"Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle."
Li T.-B., Liu X.-H., Feng S., Hu Y., Yang W.-X., Han Y., Wang Y.-G., Gong L.-M.
Acta Biochim. Biophys. Sin. 36:412-418(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PNKD.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ621424 mRNA. Translation: CAF18565.1.
AK125322 mRNA. Translation: BAC86128.1.
AP005329 Genomic DNA. No translation available.
AP005431 Genomic DNA. No translation available.
BC116183 mRNA. Translation: AAI16184.1.
X69090 mRNA. Translation: CAA48833.1. Different initiation.
CCDSCCDS45823.1. [P52179-2]
CCDS45824.1. [P52179-1]
PIRS42167.
RefSeqNP_003794.3. NM_003803.3. [P52179-1]
NP_062830.1. NM_019856.1. [P52179-2]
UniGeneHs.464469.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2R15X-ray2.24A/B1459-1667[»]
2Y23X-ray2.50A1141-1447[»]
2Y25X-ray3.50A/B/C/D1357-1667[»]
3RBSX-ray1.85A1247-1447[»]
DisProtDP00517.
ProteinModelPortalP52179.
SMRP52179. Positions 273-734, 751-834, 930-1024, 1039-1139, 1141-1666.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

DIPDIP-59649N.
IntActP52179. 6 interactions.
STRING9606.ENSP00000348821.

PTM databases

PhosphoSiteP52179.

Polymorphism databases

DMDM212276443.

Proteomic databases

PaxDbP52179.
PRIDEP52179.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261606; ENSP00000261606; ENSG00000101605. [P52179-2]
ENST00000356443; ENSP00000348821; ENSG00000101605. [P52179-1]
GeneID8736.
KEGGhsa:8736.
UCSCuc002klp.3. human. [P52179-1]
uc002klq.3. human. [P52179-2]

Organism-specific databases

CTD8736.
GeneCardsGC18M003056.
H-InvDBHIX0017329.
HGNCHGNC:7613. MYOM1.
HPAHPA014305.
MIM603508. gene.
neXtProtNX_P52179.
PharmGKBPA31418.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG281933.
HOGENOMHOG000293283.
HOVERGENHBG004977.
InParanoidP52179.
OMAYIIESRY.
OrthoDBEOG7MSMN2.
PhylomeDBP52179.
TreeFamTF331825.

Gene expression databases

ArrayExpressP52179.
BgeeP52179.
CleanExHS_MYOM1.
GenevestigatorP52179.

Family and domain databases

Gene3D2.60.40.10. 12 hits.
InterProIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamPF00041. fn3. 5 hits.
PF07679. I-set. 5 hits.
[Graphical view]
SMARTSM00060. FN3. 5 hits.
SM00409. IG. 3 hits.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 3 hits.
PROSITEPS50853. FN3. 5 hits.
PS50835. IG_LIKE. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP52179.
GeneWikiMYOM1.
GenomeRNAi8736.
NextBio32769.
PROP52179.
SOURCESearch...

Entry information

Entry nameMYOM1_HUMAN
AccessionPrimary (citable) accession number: P52179
Secondary accession number(s): Q14BD6, Q6H969, Q6ZUU0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 4, 2008
Last modified: July 9, 2014
This is version 122 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM