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Q5VU43

- MYOME_HUMAN

UniProt

Q5VU43 - MYOME_HUMAN

Protein

Myomegalin

Gene

PDE4DIP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 1 (07 Dec 2004)
      Previous versions | rss
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    Functioni

    May function as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei742 – 7432Breakpoint for insertion to form PDE4DIP-PDGFRB fusion protein

    GO - Molecular functioni

    1. enzyme binding Source: UniProtKB
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. cellular protein complex assembly Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myomegalin
    Alternative name(s):
    Cardiomyopathy-associated protein 2
    Phosphodiesterase 4D-interacting protein
    Gene namesi
    Name:PDE4DIP
    Synonyms:CMYA2, KIAA0454, KIAA0477, MMGL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:15580. PDE4DIP.

    Subcellular locationi

    Golgi apparatus By similarity. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity. Cytoplasm 1 Publication. Nucleus 1 Publication

    GO - Cellular componenti

    1. centrosome Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. Golgi apparatus Source: UniProtKB
    4. myofibril Source: UniProtKB
    5. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Golgi apparatus, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving PDE4DIP may be the cause of a myeloproliferative disorder (MBD) associated with eosinophilia. Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein.

    Organism-specific databases

    PharmGKBiPA33131.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 23462346MyomegalinPRO_0000307690Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei704 – 7041Phosphothreonine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ5VU43.
    PaxDbiQ5VU43.
    PRIDEiQ5VU43.

    Expressioni

    Tissue specificityi

    Highly expressed in heart and skeletal muscle and to a lower extent in brain and placenta.1 Publication

    Developmental stagei

    Expressed in fetal heart.1 Publication

    Gene expression databases

    ArrayExpressiQ5VU43.
    BgeeiQ5VU43.
    GenevestigatoriQ5VU43.

    Organism-specific databases

    HPAiHPA008162.
    HPA012678.

    Interactioni

    Subunit structurei

    Interacts with PDE4D.By similarity

    Protein-protein interaction databases

    BioGridi115017. 32 interactions.
    DIPiDIP-51263N.
    IntActiQ5VU43. 37 interactions.
    MINTiMINT-1183984.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5VU43.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1551 – 164292NBPFPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili41 – 13292Sequence AnalysisAdd
    BLAST
    Coiled coili162 – 20544Sequence AnalysisAdd
    BLAST
    Coiled coili238 – 31881Sequence AnalysisAdd
    BLAST
    Coiled coili350 – 684335Sequence AnalysisAdd
    BLAST
    Coiled coili743 – 936194Sequence AnalysisAdd
    BLAST
    Coiled coili1002 – 104342Sequence AnalysisAdd
    BLAST
    Coiled coili1096 – 112429Sequence AnalysisAdd
    BLAST
    Coiled coili1212 – 124029Sequence AnalysisAdd
    BLAST
    Coiled coili1346 – 138540Sequence AnalysisAdd
    BLAST
    Coiled coili1431 – 145525Sequence AnalysisAdd
    BLAST
    Coiled coili1736 – 176025Sequence AnalysisAdd
    BLAST
    Coiled coili1840 – 2077238Sequence AnalysisAdd
    BLAST
    Coiled coili2273 – 231240Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 1 NBPF domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG46262.
    HOVERGENiHBG108166.
    KOiK16549.
    OMAiKELAKCD.
    OrthoDBiEOG77T13M.
    PhylomeDBiQ5VU43.
    TreeFamiTF329233.

    Family and domain databases

    InterProiIPR010630. NBPF_dom.
    IPR012943. Spindle_assoc.
    [Graphical view]
    PfamiPF06758. DUF1220. 1 hit.
    PF07989. Microtub_assoc. 1 hit.
    [Graphical view]
    PROSITEiPS51316. NBPF. 1 hit.
    [Graphical view]

    Sequences (11)i

    Sequence statusi: Complete.

    This entry describes 11 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5VU43-1) [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

    MSNGYRTLSQ HLNDLKKENF SLKLRIYFLE ERMQQKYEAS REDIYKRNIE     50
    LKVEVESLKR ELQDKKQHLD KTWADVENLN SQNEAELRRQ FEERQQETEH 100
    VYELLENKIQ LLQEESRLAK NEAARMAALV EAEKECNLEL SEKLKGVTKN 150
    WEDVPGDQVK PDQYTEALAQ RDKRIEELNQ SLAAQERLVE QLSREKQQLL 200
    HLLEEPTSME VQPMTEELLK QQKLNSHETT ITQQSVSDSH LAELQEKIQQ 250
    TEATNKILQE KLNEMSYELK CAQESSQKQD GTIQNLKETL KSRERETEEL 300
    YQVIEGQNDT MAKLREMLHQ SQLGQLHSSE GTSPAQQQVA LLDLQSALFC 350
    SQLEIQKLQR VVRQKERQLA DAKQCVQFVE AAAHESEQQK EASWKHNQEL 400
    RKALQQLQEE LQNKSQQLRA WEAEKYNEIR TQEQNIQHLN HSLSHKEQLL 450
    QEFRELLQYR DNSDKTLEAN EMLLEKLRQR IHDKAVALER AIDEKFSALE 500
    EKEKELRQLR LAVRERDHDL ERLRDVLSSN EATMQSMESL LRAKGLEVEQ 550
    LSTTCQNLQW LKEEMETKFS RWQKEQESII QQLQTSLHDR NKEVEDLSAT 600
    LLCKLGPGQS EIAEELCQRL QRKERMLQDL LSDRNKQVLE HEMEIQGLLQ 650
    SVSTREQESQ AAAEKLVQAL MERNSELQAL RQYLGGRDSL MSQAPISNQQ 700
    AEVTPTGCLG KQTDQGSMQI PSRDDSTSLT AKEDVSIPRS TLGDLDTVAG 750
    LEKELSNAKE ELELMAKKER ESQMELSALQ SMMAVQEEEL QVQAADMESL 800
    TRNIQIKEDL IKDLQMQLVD PEDIPAMERL TQEVLLLREK VASVESQGQE 850
    ISGNRRQQLL LMLEGLVDER SRLNEALQAE RQLYSSLVKF HAHPESSERD 900
    RTLQVELEGA QVLRSRLEEV LGRSLERLNR LETLAAIGGA AAGDDTEDTS 950
    TEFTDSIEEE AAHHSHQQLV KVALEKSLAT VETQNPSFSP PSPMGGDSNR 1000
    CLQEEMLHLR AEFHQHLEEK RKAEEELKEL KAQIEEAGFS SVSHIRNTML 1050
    SLCLENAELK EQMGEAMSDG WEIEEDKEKG EVMVETVVTK EGLSESSLQA 1100
    EFRKLQGKLK NAHNIINLLK EQLVLSSKEG NSKLTPELLV HLTSTIERIN 1150
    TELVGSPGKH QHQEEGNVTV RPFPRPQSLD LGATFTVDAH QLDNQSQPRD 1200
    PGPQSAFSLP GSTQHLRSQL SQCKQRYQDL QEKLLLSEAT VFAQANELEK 1250
    YRVMLTGESL VKQDSKQIQV DLQDLGYETC GRSENEAERE ETTSPECEEH 1300
    NSLKEMVLME GLCSEQGRRG STLASSSERK PLENQLGKQE EFRVYGKSEN 1350
    ILVLRKDIKD LKAQLQNANK VIQNLKSRVR SLSVTSDYSS SLERPWKLRA 1400
    VGTLEGSSPH SVPDEDEGWL SDGTGAFYSP GLQAKKDLES LIQRVSQLEA 1450
    QLPKNGLEEK LAEELRSASW PGKYDSLIQD QARELSYLRQ KIREGRGICY 1500
    LITRHAKDTV KSFEDLLRSN DIDYYLGQSF REQLAQGSQL TERLTSKLST 1550
    KDHKSEKDQA GLEPLALRLS RELQEKEKVI EVLQAKLDAR SLTPSSSHAL 1600
    SDSHRSPSST SFLSDELEAC SDMDIVSEYT HYEEKKASPS HSDSIHHSSH 1650
    SAVLSSKPSS TSASQGAKAE SNSNPISLPT PQNTPKEANQ AHSGFHFHSI 1700
    PKLASLPQAP LPSAPSSFLP FSPTGPLLLG CCETPVVSLA EAQQELQMLQ 1750
    KQLGESASTV PPASTATLLS NDLEADSSYY LNSAQPHSPP RGTIELGRIL 1800
    EPGYLGSSGK WDVMRPQKGS VSGDLSSGSS VYQLNSKPTG ADLLEEHLGE 1850
    IRNLRQRLEE SICINDRLRE QLEHRLTSTA RGRGSTSNFY SQGLESIPQL 1900
    CNENRVLRED NRRLQAQLSH VSREHSQETE SLREALLSSR SHLQELEKEL 1950
    EHQKVERQQL LEDLREKQQE VLHFREERLS LQENDSRLQH KLVLLQQQCE 2000
    EKQQLFESLQ SELQIYEALY GNSKKGLKAY SLDACHQIPL SSDLSHLVAE 2050
    VRALRGQLEQ SIQGNNCLRL QLQQQLESGA GKASLSPSSI NQNFPASTDP 2100
    GNKQLLLQDS AVSPPVRDVG MNSPALVFPS SASSTPGSET PIINRANGLG 2150
    LDTSPVMKTP PKLEGDATDG SFANKHGRHV IGHIDDYSAL RQQIAEGKLL 2200
    VKKIVSLVRS ACSFPGLEAQ GTEVLGSKGI HELRSSTSAL HHALEESASL 2250
    LTMFWRAALP STHIPVLPGK VGESTERELL ELRTKVSKQE RLLQSTTEHL 2300
    KNANQQKESM EQFIVSQLTR THDVLKKART NLEVKSLRAL PCTPAL 2346
    Length:2,346
    Mass (Da):265,080
    Last modified:December 7, 2004 - v1
    Checksum:i6A3F3A12F959F799
    GO
    Isoform 2 (identifier: Q5VU43-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-210: MSNGYRTLSQ...HLLEEPTSME → MKEICRICAR...DLCEDYLPLR
         970-2346: Missing.

    Show »
    Length:1,132
    Mass (Da):128,464
    Checksum:i40CEB5FFCA2BABB4
    GO
    Isoform 3 (identifier: Q5VU43-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-10: MSNGYRTLSQ → MEQTWTRDYF...QTQALRDFEK
         1082-1191: Missing.
         1695-1756: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:2,240
    Mass (Da):254,046
    Checksum:i2DFC5B468527B49F
    GO
    Isoform 4 (identifier: Q5VU43-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2334-2346: VKSLRALPCTPAL → EPCKKRSHQKSLKQQERWACPPFVQLPIC

    Show »
    Length:2,362
    Mass (Da):267,177
    Checksum:iC6BD7842F5469163
    GO
    Isoform 6 (identifier: Q5VU43-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         970-2346: Missing.

    Show »
    Length:969
    Mass (Da):112,232
    Checksum:iFCF313B1FF5F570A
    GO
    Isoform 7 (identifier: Q5VU43-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         968-988: QLVKVALEKSLATVETQNPSF → QVSQCQGLGLPGWTAHSPSEV
         989-2346: Missing.

    Show »
    Length:988
    Mass (Da):114,154
    Checksum:i57F22472B4FCC6E8
    GO
    Isoform 8 (identifier: Q5VU43-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-10: MSNGYRTLSQ → MKGTDSGSCC...QTQALRDFEK
         174-2346: Missing.

    Show »
    Length:310
    Mass (Da):36,121
    Checksum:i0E2AF02001FE1AD7
    GO
    Isoform 9 (identifier: Q5VU43-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-10: MSNGYRTLSQ → MKGTDSGSCC...QTQALRDFEK
         174-174: R → I
         175-2346: Missing.

    Show »
    Length:311
    Mass (Da):36,234
    Checksum:iCB2E2AF02001FE1A
    GO
    Isoform 10 (identifier: Q5VU43-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         174-174: R → I
         175-2346: Missing.

    Show »
    Length:174
    Mass (Da):20,798
    Checksum:i1A5F8C9A64D2F3F7
    GO
    Isoform 11 (identifier: Q5VU43-11) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         174-2346: Missing.

    Show »
    Length:173
    Mass (Da):20,685
    Checksum:iEF8C9A64D2F3F758
    GO
    Isoform 12 (identifier: Q5VU43-12) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-10: MSNGYRTLSQ → MEQTWTRDYF...QTQALRDFEK
         174-174: R → I
         175-2346: Missing.

    Show »
    Length:240
    Mass (Da):28,507
    Checksum:iF145659765664C06
    GO

    Sequence cautioni

    The sequence AAH04860.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.
    The sequence CAH18128.1 differs from that shown. Reason: Probable cloning artifact.
    The sequence CAD91152.1 differs from that shown. Reason: Frameshift at position 1507.
    The sequence BAA32299.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAA32322.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti33 – 331M → T in CAD89923. (PubMed:17974005)Curated
    Sequence conflicti98 – 981T → M in BAB17761. (PubMed:11374908)Curated
    Sequence conflicti98 – 981T → M in BAB17762. (PubMed:11374908)Curated
    Sequence conflicti109 – 1091I → M in BAB17759. (PubMed:11374908)Curated
    Sequence conflicti109 – 1091I → M in BAB17760. (PubMed:11374908)Curated
    Sequence conflicti109 – 1091I → M in BAB17761. (PubMed:11374908)Curated
    Sequence conflicti109 – 1091I → M in BAB17762. (PubMed:11374908)Curated
    Sequence conflicti109 – 1091I → M in AAH25406. (PubMed:15489334)Curated
    Sequence conflicti109 – 1091I → M in AAI10295. (PubMed:15489334)Curated
    Sequence conflicti401 – 4011R → Q in CAD91152. (PubMed:17974005)Curated
    Sequence conflicti643 – 6431M → V in CAD91152. (PubMed:17974005)Curated
    Sequence conflicti776 – 7761L → P in CAD91152. (PubMed:17974005)Curated
    Sequence conflicti783 – 7831M → I in CAD38529. (PubMed:17974005)Curated
    Sequence conflicti783 – 7831M → I in AAI32718. (PubMed:15489334)Curated
    Sequence conflicti830 – 8301L → P in CAD91152. (PubMed:17974005)Curated
    Sequence conflicti863 – 8631L → P in CAD38529. (PubMed:17974005)Curated
    Sequence conflicti1266 – 12661K → E in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti1286 – 12861E → G in CAD91152. (PubMed:17974005)Curated
    Sequence conflicti1356 – 13561K → R in CAD91152. (PubMed:17974005)Curated
    Sequence conflicti1396 – 13961W → R in BAA32299. (PubMed:9455484)Curated
    Sequence conflicti1396 – 13961W → R in CAD91152. (PubMed:17974005)Curated
    Sequence conflicti1396 – 13961W → R in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti1397 – 13971K → E in CAD91152. (PubMed:17974005)Curated
    Sequence conflicti1454 – 14541K → E in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti1504 – 15041R → Q in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti1598 – 15981H → R in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti1610 – 16101T → P in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti1727 – 17271L → P in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti1757 – 17571A → T in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti1867 – 18671R → C in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti1910 – 19101D → E in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti2001 – 20011E → G in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti2088 – 20881Missing in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti2291 – 22911R → Q in CAH18128. (PubMed:17974005)Curated
    Sequence conflicti2317 – 23171Q → R in CAH18128. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131N → S.
    Corresponds to variant rs3010980 [ dbSNP | Ensembl ].
    VAR_036627
    Natural varianti25 – 251R → L.
    Corresponds to variant rs1664022 [ dbSNP | Ensembl ].
    VAR_036628
    Natural varianti49 – 491I → T.2 Publications
    Corresponds to variant rs573724 [ dbSNP | Ensembl ].
    VAR_036629
    Natural varianti143 – 1431K → E.
    Corresponds to variant rs1747958 [ dbSNP | Ensembl ].
    VAR_056951
    Natural varianti150 – 1501N → S.
    Corresponds to variant rs3010980 [ dbSNP | Ensembl ].
    VAR_056952
    Natural varianti167 – 1671A → T.
    Corresponds to variant rs2590120 [ dbSNP | Ensembl ].
    VAR_036630
    Natural varianti171 – 1711R → K.
    Corresponds to variant rs3121544 [ dbSNP | Ensembl ].
    VAR_051204
    Natural varianti391 – 3911E → A.
    Corresponds to variant rs1324366 [ dbSNP | Ensembl ].
    VAR_051205
    Natural varianti410 – 4101E → V.
    Corresponds to variant rs17425009 [ dbSNP | Ensembl ].
    VAR_051206
    Natural varianti482 – 4821H → R.
    Corresponds to variant rs1698681 [ dbSNP | Ensembl ].
    VAR_051207
    Natural varianti681 – 6811R → H.
    Corresponds to variant rs1629011 [ dbSNP | Ensembl ].
    VAR_051208
    Natural varianti708 – 7081C → R.4 Publications
    Corresponds to variant rs1628172 [ dbSNP | Ensembl ].
    VAR_051209
    Natural varianti1013 – 10131F → I.1 Publication
    Corresponds to variant rs1698624 [ dbSNP | Ensembl ].
    VAR_051210
    Natural varianti1066 – 10661A → T.1 Publication
    Corresponds to variant rs1698647 [ dbSNP | Ensembl ].
    VAR_051211
    Natural varianti1359 – 13591K → E.1 Publication
    Corresponds to variant rs1747958 [ dbSNP | Ensembl ].
    VAR_051212
    Natural varianti1736 – 17361V → E.1 Publication
    Corresponds to variant rs1778159 [ dbSNP | Ensembl ].
    VAR_051213
    Natural varianti1742 – 17421A → S.1 Publication
    Corresponds to variant rs1698605 [ dbSNP | Ensembl ].
    VAR_051214

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 210210MSNGY…PTSME → MKEICRICARELCGNQRRWI FHTASKLNLQVLLSHVLGKD VPRDGKAEFACSKCAFMLDR IYRFDTVIARIEALSIERLQ KLLLEKDRLKFCIASMYRKN NDDSGAEIKAGNGTVDMSVL PDARYSALLQEDFAYSGFEC WVENEDQIQEPHSCHGSEGP GNRPRRCRGCAALRVADSDY EAICKVPRKVARSISCGPSS RWSTSICTEEPALSEVGPPD LASTKVPPDGESMEEETPGS SVESLDASVQASPPQQKDEE TERSAKELGKCDCCSDDQAP QHGCNHKLELALSMIKGLDY KPIQSPRGSRLPIPVKSSLP GAKPGPSMTDGVSSGFLNRS LKPLYKTPVSYPLELSDLQE LWDDLCEDYLPLR in isoform 2. 2 PublicationsVSP_028772Add
    BLAST
    Alternative sequencei1 – 1010MSNGYRTLSQ → MEQTWTRDYFAEDDGEMVPR TSHTAAFLSDTKDRGPPVQS QIWRSGEKVPFVQTYSLRAF EKPPQVQTQALRDFEK in isoform 3 and isoform 12. 2 PublicationsVSP_028773
    Alternative sequencei1 – 1010MSNGYRTLSQ → MKGTDSGSCCRRRCDFGCCC RASRRAHYTPYRSGDATRTP QSPRQTPSRERRRPEPAGSW AAAAEEEEAAAAATPWMRDY FAEDDGEMVPRTSHTAAFLS DTKDRGPPVQSQIWRSGEKV PFVQTYSLRAFEKPPQVQTQ ALRDFEK in isoform 8 and isoform 9. 1 PublicationVSP_028774
    Alternative sequencei174 – 23462173Missing in isoform 8 and isoform 11. 2 PublicationsVSP_028775Add
    BLAST
    Alternative sequencei174 – 1741R → I in isoform 9, isoform 10 and isoform 12. 2 PublicationsVSP_028776
    Alternative sequencei175 – 23462172Missing in isoform 9, isoform 10 and isoform 12. 2 PublicationsVSP_028777Add
    BLAST
    Alternative sequencei968 – 98821QLVKV…QNPSF → QVSQCQGLGLPGWTAHSPSE V in isoform 7. 1 PublicationVSP_028778Add
    BLAST
    Alternative sequencei970 – 23461377Missing in isoform 2 and isoform 6. 3 PublicationsVSP_028779Add
    BLAST
    Alternative sequencei989 – 23461358Missing in isoform 7. 1 PublicationVSP_028780Add
    BLAST
    Alternative sequencei1082 – 1191110Missing in isoform 3. 1 PublicationVSP_028781Add
    BLAST
    Alternative sequencei1695 – 175662Missing in isoform 3. 1 PublicationVSP_028782Add
    BLAST
    Alternative sequencei2334 – 234613VKSLR…CTPAL → EPCKKRSHQKSLKQQERWAC PPFVQLPIC in isoform 4. 1 PublicationVSP_028783Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB042555 mRNA. Translation: BAB17759.1.
    AB042556 mRNA. Translation: BAB17760.1.
    AB042557 mRNA. Translation: BAB17761.1.
    AB042558 mRNA. Translation: BAB17762.1.
    AB007923 mRNA. Translation: BAA32299.2. Different initiation.
    AB007946 mRNA. Translation: BAA32322.2. Different initiation.
    AL831815 mRNA. Translation: CAD38529.1.
    AL832024 mRNA. Translation: CAD89923.1.
    AL833273 mRNA. Translation: CAD91152.1. Frameshift.
    CR749273 mRNA. Translation: CAH18128.1. Sequence problems.
    AL590452, AL138791 Genomic DNA. Translation: CAH72521.1.
    AL590452, AL138796 Genomic DNA. Translation: CAH72522.1.
    AL590452, AL138796 Genomic DNA. Translation: CAH72523.1.
    AL590452, AL138796 Genomic DNA. Translation: CAH72524.1.
    AL590452 Genomic DNA. Translation: CAH72525.1.
    AL590452, AL138796 Genomic DNA. Translation: CAH72526.1.
    AL590452, AL138796 Genomic DNA. Translation: CAH72527.1.
    AL590452, AL138796 Genomic DNA. Translation: CAH72528.1.
    AL138791, AL590452 Genomic DNA. Translation: CAI22527.1.
    AL138796, AL590452 Genomic DNA. Translation: CAI22822.1.
    AL138796, AL590452 Genomic DNA. Translation: CAI22823.1.
    AL138796, AL590452 Genomic DNA. Translation: CAI22824.1.
    AL138796, AL590452 Genomic DNA. Translation: CAI22825.1.
    AL138796, AL590452 Genomic DNA. Translation: CAI22826.1.
    AL138796, AL590452 Genomic DNA. Translation: CAI22827.1.
    BC004860 mRNA. Translation: AAH04860.1. Sequence problems.
    BC025406 mRNA. Translation: AAH25406.1.
    BC078660 mRNA. Translation: AAH78660.1.
    BC110294 mRNA. Translation: AAI10295.1.
    BC132717 mRNA. Translation: AAI32718.1.
    BC152439 mRNA. Translation: AAI52440.1.
    DA900724 mRNA. No translation available.
    CCDSiCCDS30824.1. [Q5VU43-1]
    CCDS30825.1. [Q5VU43-6]
    CCDS30826.1. [Q5VU43-2]
    CCDS30827.1. [Q5VU43-8]
    CCDS30828.1. [Q5VU43-11]
    CCDS55627.1. [Q5VU43-4]
    CCDS55628.1. [Q5VU43-3]
    PIRiT00069.
    T00259.
    RefSeqiNP_001002810.1. NM_001002810.3. [Q5VU43-11]
    NP_001002811.2. NM_001002811.2.
    NP_001002812.2. NM_001002812.2.
    NP_001182189.1. NM_001195260.1.
    NP_001182190.1. NM_001195261.1.
    NP_001185761.2. NM_001198832.2.
    NP_001185763.3. NM_001198834.3.
    NP_055459.5. NM_014644.5.
    NP_071754.3. NM_022359.5. [Q5VU43-8]
    UniGeneiHs.584841.
    Hs.613082.
    Hs.657490.
    Hs.731111.

    Genome annotation databases

    EnsembliENST00000313431; ENSP00000316434; ENSG00000178104. [Q5VU43-2]
    ENST00000369347; ENSP00000358353; ENSG00000178104. [Q5VU43-11]
    ENST00000369349; ENSP00000358355; ENSG00000178104. [Q5VU43-6]
    ENST00000369351; ENSP00000358357; ENSG00000178104. [Q5VU43-7]
    ENST00000369354; ENSP00000358360; ENSG00000178104. [Q5VU43-1]
    ENST00000369356; ENSP00000358363; ENSG00000178104. [Q5VU43-4]
    GeneIDi9659.
    KEGGihsa:9659.
    UCSCiuc001elk.2. human. [Q5VU43-11]
    uc001eln.4. human. [Q5VU43-12]
    uc001elo.3. human. [Q5VU43-8]
    uc001elv.4. human. [Q5VU43-1]
    uc001elx.4. human. [Q5VU43-3]
    uc001emb.1. human. [Q5VU43-2]
    uc001emc.2. human. [Q5VU43-6]
    uc001emd.2. human. [Q5VU43-7]
    uc021ouh.1. human. [Q5VU43-4]

    Polymorphism databases

    DMDMi74747041.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB042555 mRNA. Translation: BAB17759.1 .
    AB042556 mRNA. Translation: BAB17760.1 .
    AB042557 mRNA. Translation: BAB17761.1 .
    AB042558 mRNA. Translation: BAB17762.1 .
    AB007923 mRNA. Translation: BAA32299.2 . Different initiation.
    AB007946 mRNA. Translation: BAA32322.2 . Different initiation.
    AL831815 mRNA. Translation: CAD38529.1 .
    AL832024 mRNA. Translation: CAD89923.1 .
    AL833273 mRNA. Translation: CAD91152.1 . Frameshift.
    CR749273 mRNA. Translation: CAH18128.1 . Sequence problems.
    AL590452 , AL138791 Genomic DNA. Translation: CAH72521.1 .
    AL590452 , AL138796 Genomic DNA. Translation: CAH72522.1 .
    AL590452 , AL138796 Genomic DNA. Translation: CAH72523.1 .
    AL590452 , AL138796 Genomic DNA. Translation: CAH72524.1 .
    AL590452 Genomic DNA. Translation: CAH72525.1 .
    AL590452 , AL138796 Genomic DNA. Translation: CAH72526.1 .
    AL590452 , AL138796 Genomic DNA. Translation: CAH72527.1 .
    AL590452 , AL138796 Genomic DNA. Translation: CAH72528.1 .
    AL138791 , AL590452 Genomic DNA. Translation: CAI22527.1 .
    AL138796 , AL590452 Genomic DNA. Translation: CAI22822.1 .
    AL138796 , AL590452 Genomic DNA. Translation: CAI22823.1 .
    AL138796 , AL590452 Genomic DNA. Translation: CAI22824.1 .
    AL138796 , AL590452 Genomic DNA. Translation: CAI22825.1 .
    AL138796 , AL590452 Genomic DNA. Translation: CAI22826.1 .
    AL138796 , AL590452 Genomic DNA. Translation: CAI22827.1 .
    BC004860 mRNA. Translation: AAH04860.1 . Sequence problems.
    BC025406 mRNA. Translation: AAH25406.1 .
    BC078660 mRNA. Translation: AAH78660.1 .
    BC110294 mRNA. Translation: AAI10295.1 .
    BC132717 mRNA. Translation: AAI32718.1 .
    BC152439 mRNA. Translation: AAI52440.1 .
    DA900724 mRNA. No translation available.
    CCDSi CCDS30824.1. [Q5VU43-1 ]
    CCDS30825.1. [Q5VU43-6 ]
    CCDS30826.1. [Q5VU43-2 ]
    CCDS30827.1. [Q5VU43-8 ]
    CCDS30828.1. [Q5VU43-11 ]
    CCDS55627.1. [Q5VU43-4 ]
    CCDS55628.1. [Q5VU43-3 ]
    PIRi T00069.
    T00259.
    RefSeqi NP_001002810.1. NM_001002810.3. [Q5VU43-11 ]
    NP_001002811.2. NM_001002811.2.
    NP_001002812.2. NM_001002812.2.
    NP_001182189.1. NM_001195260.1.
    NP_001182190.1. NM_001195261.1.
    NP_001185761.2. NM_001198832.2.
    NP_001185763.3. NM_001198834.3.
    NP_055459.5. NM_014644.5.
    NP_071754.3. NM_022359.5. [Q5VU43-8 ]
    UniGenei Hs.584841.
    Hs.613082.
    Hs.657490.
    Hs.731111.

    3D structure databases

    ProteinModelPortali Q5VU43.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115017. 32 interactions.
    DIPi DIP-51263N.
    IntActi Q5VU43. 37 interactions.
    MINTi MINT-1183984.

    Polymorphism databases

    DMDMi 74747041.

    Proteomic databases

    MaxQBi Q5VU43.
    PaxDbi Q5VU43.
    PRIDEi Q5VU43.

    Protocols and materials databases

    DNASUi 9659.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000313431 ; ENSP00000316434 ; ENSG00000178104 . [Q5VU43-2 ]
    ENST00000369347 ; ENSP00000358353 ; ENSG00000178104 . [Q5VU43-11 ]
    ENST00000369349 ; ENSP00000358355 ; ENSG00000178104 . [Q5VU43-6 ]
    ENST00000369351 ; ENSP00000358357 ; ENSG00000178104 . [Q5VU43-7 ]
    ENST00000369354 ; ENSP00000358360 ; ENSG00000178104 . [Q5VU43-1 ]
    ENST00000369356 ; ENSP00000358363 ; ENSG00000178104 . [Q5VU43-4 ]
    GeneIDi 9659.
    KEGGi hsa:9659.
    UCSCi uc001elk.2. human. [Q5VU43-11 ]
    uc001eln.4. human. [Q5VU43-12 ]
    uc001elo.3. human. [Q5VU43-8 ]
    uc001elv.4. human. [Q5VU43-1 ]
    uc001elx.4. human. [Q5VU43-3 ]
    uc001emb.1. human. [Q5VU43-2 ]
    uc001emc.2. human. [Q5VU43-6 ]
    uc001emd.2. human. [Q5VU43-7 ]
    uc021ouh.1. human. [Q5VU43-4 ]

    Organism-specific databases

    CTDi 9659.
    GeneCardsi GC01M144836.
    H-InvDB HIX0178151.
    HGNCi HGNC:15580. PDE4DIP.
    HPAi HPA008162.
    HPA012678.
    MIMi 608117. gene.
    neXtProti NX_Q5VU43.
    PharmGKBi PA33131.
    HUGEi Search...
    Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG46262.
    HOVERGENi HBG108166.
    KOi K16549.
    OMAi KELAKCD.
    OrthoDBi EOG77T13M.
    PhylomeDBi Q5VU43.
    TreeFami TF329233.

    Miscellaneous databases

    GeneWikii Myomegalin.
    NextBioi 36269.
    PROi Q5VU43.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5VU43.
    Bgeei Q5VU43.
    Genevestigatori Q5VU43.

    Family and domain databases

    InterProi IPR010630. NBPF_dom.
    IPR012943. Spindle_assoc.
    [Graphical view ]
    Pfami PF06758. DUF1220. 1 hit.
    PF07989. Microtub_assoc. 1 hit.
    [Graphical view ]
    PROSITEi PS51316. NBPF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 10; 11 AND 12), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANT THR-49.
      Tissue: Myocardium.
    2. "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain."
      Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O.
      DNA Res. 4:345-349(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT ARG-708.
      Tissue: Brain.
    3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 6 AND 7), VARIANTS ARG-708; ILE-1013; THR-1066; GLU-1359; GLU-1736 AND SER-1742.
      Tissue: Amygdala and Skeletal muscle.
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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 2; 8 AND 9), VARIANTS THR-49 AND ARG-708.
      Tissue: Brain and Placenta.
    7. "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] OF 2261-2346 (ISOFORM 4).
      Tissue: Skeletal muscle.
    8. "Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib."
      Wilkinson K., Velloso E.R.P., Lopes L.F., Lee C., Aster J.C., Shipp M.A., Aguiar R.C.T.
      Blood 102:4187-4190(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION WITH PDGFRB.
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-704, VARIANT [LARGE SCALE ANALYSIS] ARG-708, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiMYOME_HUMAN
    AccessioniPrimary (citable) accession number: Q5VU43
    Secondary accession number(s): A2RU15
    , O75042, O75065, Q2YDC1, Q5VU42, Q5VU44, Q5VU45, Q5VU46, Q5VU47, Q5VU48, Q5VU49, Q68DU2, Q6AZ93, Q6PK88, Q86T40, Q86TB2, Q8N3W0, Q8TAY9, Q9HCP2, Q9HCP3, Q9HCP4, Q9HCP5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 23, 2007
    Last sequence update: December 7, 2004
    Last modified: October 1, 2014
    This is version 101 of the entry and version 1 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

    External Data

    Dasty 3