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Q9UBF9

- MYOTI_HUMAN

UniProt

Q9UBF9 - MYOTI_HUMAN

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Protein
Myotilin
Gene
MYOT, TTID
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.1 Publication

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. structural constituent of muscle Source: ProtInc

GO - Biological processi

  1. muscle contraction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

Actin-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Myotilin
Alternative name(s):
57 kDa cytoskeletal protein
Myofibrillar titin-like Ig domains protein
Titin immunoglobulin domain protein
Gene namesi
Name:MYOT
Synonyms:TTID
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:12399. MYOT.

Subcellular locationi

Cell membranesarcolemma. Cytoplasmcytoskeleton. CytoplasmmyofibrilsarcomereZ line
Note: Sarcomeric, also localized to the sarcolemma. Colocalizes with MYOZ1 at the Z-lines in skeletal muscle.2 Publications

GO - Cellular componenti

  1. Z disc Source: UniProtKB-SubCell
  2. actin cytoskeleton Source: ProtInc
  3. sarcolemma Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 1A (LGMD1A) [MIM:159000]: An autosomal dominant degenerative myopathy with onset within a mean age of 28 years. Characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551S → F in LGMD1A and MFM3. 2 Publications
VAR_021569
Natural varianti57 – 571T → I in LGMD1A; does not abolish interaction with ACTN1. 1 Publication
Corresponds to variant rs28937597 [ dbSNP | Ensembl ].
VAR_021570
Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]: A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551S → F in LGMD1A and MFM3. 2 Publications
VAR_021569
Natural varianti60 – 601S → C in MFM3. 1 Publication
VAR_021571
Natural varianti60 – 601S → F in MFM3. 1 Publication
VAR_021572
Natural varianti95 – 951S → I in MFM3. 1 Publication
VAR_021573
Spheroid body myopathy (SBM) [MIM:182920]: Autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391S → F in SBM. 1 Publication
VAR_029532

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy, Myofibrillar myopathy

Organism-specific databases

MIMi159000. phenotype.
182920. phenotype.
609200. phenotype.
Orphaneti266. Autosomal dominant limb-girdle muscular dystrophy type 1A.
98911. Distal myotilinopathy.
268129. Spheroid body myopathy.
PharmGKBiPA37064.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 498498Myotilin
PRO_0000072687Add
BLAST

Proteomic databases

PaxDbiQ9UBF9.
PRIDEiQ9UBF9.

PTM databases

PhosphoSiteiQ9UBF9.

Expressioni

Tissue specificityi

Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland.2 Publications

Gene expression databases

ArrayExpressiQ9UBF9.
BgeeiQ9UBF9.
CleanExiHS_MYOT.
GenevestigatoriQ9UBF9.

Organism-specific databases

HPAiHPA037733.

Interactioni

Subunit structurei

Homodimer. Interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC and MYOZ2. Interacts with the C-terminal region of MYOZ1.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FLNCQ143156EBI-296701,EBI-489954

Protein-protein interaction databases

BioGridi114878. 10 interactions.
IntActiQ9UBF9. 7 interactions.
STRINGi9606.ENSP00000239926.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi249 – 2513
Beta strandi259 – 2624
Beta strandi267 – 2726
Beta strandi274 – 2774
Beta strandi280 – 2856
Beta strandi288 – 2903
Beta strandi294 – 2963
Beta strandi298 – 3014
Turni302 – 3043
Beta strandi305 – 3128
Helixi315 – 3173
Beta strandi319 – 3279
Beta strandi330 – 34112
Beta strandi351 – 3533
Beta strandi358 – 3614
Beta strandi364 – 3729
Beta strandi379 – 3846
Beta strandi396 – 4005
Beta strandi405 – 4139
Helixi415 – 4173
Beta strandi419 – 4279
Beta strandi430 – 44112

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2KDGNMR-A249-344[»]
2KKQNMR-A344-449[»]
ProteinModelPortaliQ9UBF9.
SMRiQ9UBF9. Positions 249-449.

Miscellaneous databases

EvolutionaryTraceiQ9UBF9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini250 – 33586Ig-like C2-type 1
Add
BLAST
Domaini349 – 44193Ig-like C2-type 2
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni79 – 15072Necessary for interaction with ACTN1
Add
BLAST
Regioni215 – 498284Necessary for interaction with ACTA1
Add
BLAST
Regioni215 – 493279Necessary for interaction with FLNC
Add
BLAST

Sequence similaritiesi

Belongs to the myotilin/palladin family.

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

eggNOGiNOG147321.
HOGENOMiHOG000028074.
HOVERGENiHBG066530.
InParanoidiQ9UBF9.
OMAiDSVKLEC.
PhylomeDBiQ9UBF9.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF07679. I-set. 2 hits.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
[Graphical view]
PROSITEiPS50835. IG_LIKE. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UBF9-1) [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

MFNYERPKHF IQSQNPCGSR LQPPGPETSS FSSQTKQSSI IIQPRQCTEQ    50
RFSASSTLSS HITMSSSAFP ASPKQHAGSN PGQRVTTTYN QSPASFLSSI 100
LPSQPDYNSS KIPSAMDSNY QQSSAGQPIN AKPSQTANAK PIPRTPDHEI 150
QGSKEALIQD LERKLKCKDT LLHNGNQRLT YEEKMARRLL GPQNAAAVFQ 200
AQDDSGAQDS QQHNSEHARL QVPTSQVRSR STSRGDVNDQ DAIQEKFYPP 250
RFIQVPENMS IDEGRFCRMD FKVSGLPAPD VSWYLNGRTV QSDDLHKMIV 300
SEKGLHSLIF EVVRASDAGA YACVAKNRAG EATFTVQLDV LAKEHKRAPM 350
FIYKPQSKKV LEGDSVKLEC QISAIPPPKL FWKRNNEMVQ FNTDRISLYQ 400
DNTGRVTLLI KDVNKKDAGW YTVSAVNEAG VTTCNTRLDV TARPNQTLPA 450
PKQLRVRPTF SKYLALNGKG LNVKQAFNPE GEFQRLAAQS GLYESEEL 498
Length:498
Mass (Da):55,395
Last modified:November 2, 2010 - v2
Checksum:i7F226DD43A0C611B
GO
Isoform 2 (identifier: Q9UBF9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-184: Missing.

Note: No experimental confirmation available.

Show »
Length:314
Mass (Da):35,147
Checksum:iF4B4033F166A94D2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331S → I in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035520
Natural varianti39 – 391S → F in SBM. 1 Publication
VAR_029532
Natural varianti50 – 501Q → R.
Corresponds to variant rs34717730 [ dbSNP | Ensembl ].
VAR_049914
Natural varianti55 – 551S → F in LGMD1A and MFM3. 2 Publications
VAR_021569
Natural varianti57 – 571T → I in LGMD1A; does not abolish interaction with ACTN1. 1 Publication
Corresponds to variant rs28937597 [ dbSNP | Ensembl ].
VAR_021570
Natural varianti60 – 601S → C in MFM3. 1 Publication
VAR_021571
Natural varianti60 – 601S → F in MFM3. 1 Publication
VAR_021572
Natural varianti74 – 741K → Q.3 Publications
Corresponds to variant rs41431944 [ dbSNP | Ensembl ].
VAR_029533
Natural varianti95 – 951S → I in MFM3. 1 Publication
VAR_021573

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 184184Missing in isoform 2.
VSP_041450Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF133820 mRNA. Translation: AAD29051.2.
AF144477 mRNA. Translation: AAD44754.1.
AK300088 mRNA. Translation: BAG61891.1.
AC106791 Genomic DNA. No translation available.
BC005376 mRNA. Translation: AAH05376.1.
CCDSiCCDS4194.1. [Q9UBF9-1]
CCDS47268.1. [Q9UBF9-2]
RefSeqiNP_001129412.1. NM_001135940.1. [Q9UBF9-2]
NP_006781.1. NM_006790.2.
UniGeneiHs.84665.

Genome annotation databases

EnsembliENST00000239926; ENSP00000239926; ENSG00000120729. [Q9UBF9-1]
ENST00000421631; ENSP00000391185; ENSG00000120729. [Q9UBF9-2]
GeneIDi9499.
KEGGihsa:9499.
UCSCiuc003lbv.3. human. [Q9UBF9-1]

Polymorphism databases

DMDMi311033402.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF133820 mRNA. Translation: AAD29051.2 .
AF144477 mRNA. Translation: AAD44754.1 .
AK300088 mRNA. Translation: BAG61891.1 .
AC106791 Genomic DNA. No translation available.
BC005376 mRNA. Translation: AAH05376.1 .
CCDSi CCDS4194.1. [Q9UBF9-1 ]
CCDS47268.1. [Q9UBF9-2 ]
RefSeqi NP_001129412.1. NM_001135940.1. [Q9UBF9-2 ]
NP_006781.1. NM_006790.2.
UniGenei Hs.84665.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2KDG NMR - A 249-344 [» ]
2KKQ NMR - A 344-449 [» ]
ProteinModelPortali Q9UBF9.
SMRi Q9UBF9. Positions 249-449.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114878. 10 interactions.
IntActi Q9UBF9. 7 interactions.
STRINGi 9606.ENSP00000239926.

PTM databases

PhosphoSitei Q9UBF9.

Polymorphism databases

DMDMi 311033402.

Proteomic databases

PaxDbi Q9UBF9.
PRIDEi Q9UBF9.

Protocols and materials databases

DNASUi 9499.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000239926 ; ENSP00000239926 ; ENSG00000120729 . [Q9UBF9-1 ]
ENST00000421631 ; ENSP00000391185 ; ENSG00000120729 . [Q9UBF9-2 ]
GeneIDi 9499.
KEGGi hsa:9499.
UCSCi uc003lbv.3. human. [Q9UBF9-1 ]

Organism-specific databases

CTDi 9499.
GeneCardsi GC05P137203.
GeneReviewsi MYOT.
HGNCi HGNC:12399. MYOT.
HPAi HPA037733.
MIMi 159000. phenotype.
182920. phenotype.
604103. gene.
609200. phenotype.
neXtProti NX_Q9UBF9.
Orphaneti 266. Autosomal dominant limb-girdle muscular dystrophy type 1A.
98911. Distal myotilinopathy.
268129. Spheroid body myopathy.
PharmGKBi PA37064.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG147321.
HOGENOMi HOG000028074.
HOVERGENi HBG066530.
InParanoidi Q9UBF9.
OMAi DSVKLEC.
PhylomeDBi Q9UBF9.

Miscellaneous databases

ChiTaRSi MYOT. human.
EvolutionaryTracei Q9UBF9.
GeneWikii Myotilin.
GenomeRNAii 9499.
NextBioi 35590.
PROi Q9UBF9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UBF9.
Bgeei Q9UBF9.
CleanExi HS_MYOT.
Genevestigatori Q9UBF9.

Family and domain databases

Gene3Di 2.60.40.10. 2 hits.
InterProi IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view ]
Pfami PF07679. I-set. 2 hits.
[Graphical view ]
SMARTi SM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
[Graphical view ]
PROSITEi PS50835. IG_LIKE. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "TTID: a novel gene at 5q31 encoding a protein with titin-like features."
    Godley L.A., Lai F., Liu J., Zhao N., Le Beau M.M.
    Genomics 60:226-233(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT GLN-74.
    Tissue: Bone marrow.
  2. "Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy."
    Salmikangas P., Mykkaenen O.M., Groenholm M., Heiska L., Kere J., Carpen O.
    Hum. Mol. Genet. 8:1329-1336(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBUNIT, INTERACTION WITH ACTN1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT GLN-74.
    Tissue: 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] (ISOFORM 2).
    Tissue: Pericardium.
  4. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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 1), VARIANT GLN-74.
    Tissue: Liver.
  6. "Indications for a novel muscular dystrophy pathway: gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin."
    van der Ven P.F.M., Wiesner S., Salmikangas P., Auerbach D., Himmel M., Kempa S., Hayess K., Pacholsky D., Taivainen A., Schroeder R., Carpen O., Fuerst D.O.
    J. Cell Biol. 151:235-248(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH FLNC.
  7. "Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly."
    Salmikangas P., van der Ven P.F.M., Lalowski M., Taivainen A., Zhao F., Suila H., Schroeder R., Lappalainen P., Fuerst D.O., Carpen O.
    Hum. Mol. Genet. 12:189-203(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN MYOFIBRIL ASSEMBLY AND STABILITY, SUBUNIT, INTERACTION WITH ACTA1.
  8. "The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins."
    Gontier Y., Taivainen A., Fontao L., Sonnenberg A., van der Flier A., Carpen O., Faulkner G., Borradori L.
    J. Cell Sci. 118:3739-3749(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH FLNA; FLNB; FLNC; MYOZ1 AND MYOZ2, SUBCELLULAR LOCATION.
  9. "Solution structure of the first immunoglobulin domain of human myotilin."
    Heikkinen O., Permi P., Koskela H., Carpen O., Ylaenne J., Kilpelaeinen I.
    J. Biomol. NMR 44:107-112(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 249-344.
  10. "Solution NMR structure of the Ig-like C2-type 2 domain of human myotilin. Northeast structural genomics target HR3158."
    Northeast structural genomics consortium (NESG)
    Submitted (JUL-2009) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 344-449.
  11. Cited for: VARIANT LGMD1A ILE-57, INTERACTION WITH ACTN1.
  12. Cited for: VARIANT LGMD1A PHE-55.
  13. "Mutations in myotilin cause myofibrillar myopathy."
    Selcen D., Engel A.G.
    Neurology 62:1363-1371(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MFM3 PHE-55; CYS-60; PHE-60 AND ILE-95.
  14. Erratum
    Selcen D., Engel A.G.
    Neurology 63:405-405(2004)
  15. Cited for: VARIANT SBM PHE-39.
  16. Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-33.

Entry informationi

Entry nameiMYOTI_HUMAN
AccessioniPrimary (citable) accession number: Q9UBF9
Secondary accession number(s): A0A4R6, B4DT79
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: November 2, 2010
Last modified: July 9, 2014
This is version 125 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 5
    Human chromosome 5: 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

External Data

Dasty 3

Similar proteinsi