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Q5VU43

- MYOME_HUMAN

UniProt

Q5VU43 - MYOME_HUMAN

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Protein

Myomegalin

Gene

PDE4DIP

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

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

GO - Biological processi

  1. cellular protein complex assembly Source: UniProtKB
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ5VU43.
ExpressionAtlasiQ5VU43. baseline and differential.
GenevestigatoriQ5VU43.

Organism-specific databases

HPAiHPA008162.
HPA012678.

Interactioni

Subunit structurei

Interacts with PDE4D.By similarity

Protein-protein interaction databases

BioGridi115017. 39 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.
GeneTreeiENSGT00530000063845.
HOVERGENiHBG108166.
InParanoidiQ5VU43.
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) [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
MSNGYRTLSQ HLNDLKKENF SLKLRIYFLE ERMQQKYEAS REDIYKRNIE
60 70 80 90 100
LKVEVESLKR ELQDKKQHLD KTWADVENLN SQNEAELRRQ FEERQQETEH
110 120 130 140 150
VYELLENKIQ LLQEESRLAK NEAARMAALV EAEKECNLEL SEKLKGVTKN
160 170 180 190 200
WEDVPGDQVK PDQYTEALAQ RDKRIEELNQ SLAAQERLVE QLSREKQQLL
210 220 230 240 250
HLLEEPTSME VQPMTEELLK QQKLNSHETT ITQQSVSDSH LAELQEKIQQ
260 270 280 290 300
TEATNKILQE KLNEMSYELK CAQESSQKQD GTIQNLKETL KSRERETEEL
310 320 330 340 350
YQVIEGQNDT MAKLREMLHQ SQLGQLHSSE GTSPAQQQVA LLDLQSALFC
360 370 380 390 400
SQLEIQKLQR VVRQKERQLA DAKQCVQFVE AAAHESEQQK EASWKHNQEL
410 420 430 440 450
RKALQQLQEE LQNKSQQLRA WEAEKYNEIR TQEQNIQHLN HSLSHKEQLL
460 470 480 490 500
QEFRELLQYR DNSDKTLEAN EMLLEKLRQR IHDKAVALER AIDEKFSALE
510 520 530 540 550
EKEKELRQLR LAVRERDHDL ERLRDVLSSN EATMQSMESL LRAKGLEVEQ
560 570 580 590 600
LSTTCQNLQW LKEEMETKFS RWQKEQESII QQLQTSLHDR NKEVEDLSAT
610 620 630 640 650
LLCKLGPGQS EIAEELCQRL QRKERMLQDL LSDRNKQVLE HEMEIQGLLQ
660 670 680 690 700
SVSTREQESQ AAAEKLVQAL MERNSELQAL RQYLGGRDSL MSQAPISNQQ
710 720 730 740 750
AEVTPTGCLG KQTDQGSMQI PSRDDSTSLT AKEDVSIPRS TLGDLDTVAG
760 770 780 790 800
LEKELSNAKE ELELMAKKER ESQMELSALQ SMMAVQEEEL QVQAADMESL
810 820 830 840 850
TRNIQIKEDL IKDLQMQLVD PEDIPAMERL TQEVLLLREK VASVESQGQE
860 870 880 890 900
ISGNRRQQLL LMLEGLVDER SRLNEALQAE RQLYSSLVKF HAHPESSERD
910 920 930 940 950
RTLQVELEGA QVLRSRLEEV LGRSLERLNR LETLAAIGGA AAGDDTEDTS
960 970 980 990 1000
TEFTDSIEEE AAHHSHQQLV KVALEKSLAT VETQNPSFSP PSPMGGDSNR
1010 1020 1030 1040 1050
CLQEEMLHLR AEFHQHLEEK RKAEEELKEL KAQIEEAGFS SVSHIRNTML
1060 1070 1080 1090 1100
SLCLENAELK EQMGEAMSDG WEIEEDKEKG EVMVETVVTK EGLSESSLQA
1110 1120 1130 1140 1150
EFRKLQGKLK NAHNIINLLK EQLVLSSKEG NSKLTPELLV HLTSTIERIN
1160 1170 1180 1190 1200
TELVGSPGKH QHQEEGNVTV RPFPRPQSLD LGATFTVDAH QLDNQSQPRD
1210 1220 1230 1240 1250
PGPQSAFSLP GSTQHLRSQL SQCKQRYQDL QEKLLLSEAT VFAQANELEK
1260 1270 1280 1290 1300
YRVMLTGESL VKQDSKQIQV DLQDLGYETC GRSENEAERE ETTSPECEEH
1310 1320 1330 1340 1350
NSLKEMVLME GLCSEQGRRG STLASSSERK PLENQLGKQE EFRVYGKSEN
1360 1370 1380 1390 1400
ILVLRKDIKD LKAQLQNANK VIQNLKSRVR SLSVTSDYSS SLERPWKLRA
1410 1420 1430 1440 1450
VGTLEGSSPH SVPDEDEGWL SDGTGAFYSP GLQAKKDLES LIQRVSQLEA
1460 1470 1480 1490 1500
QLPKNGLEEK LAEELRSASW PGKYDSLIQD QARELSYLRQ KIREGRGICY
1510 1520 1530 1540 1550
LITRHAKDTV KSFEDLLRSN DIDYYLGQSF REQLAQGSQL TERLTSKLST
1560 1570 1580 1590 1600
KDHKSEKDQA GLEPLALRLS RELQEKEKVI EVLQAKLDAR SLTPSSSHAL
1610 1620 1630 1640 1650
SDSHRSPSST SFLSDELEAC SDMDIVSEYT HYEEKKASPS HSDSIHHSSH
1660 1670 1680 1690 1700
SAVLSSKPSS TSASQGAKAE SNSNPISLPT PQNTPKEANQ AHSGFHFHSI
1710 1720 1730 1740 1750
PKLASLPQAP LPSAPSSFLP FSPTGPLLLG CCETPVVSLA EAQQELQMLQ
1760 1770 1780 1790 1800
KQLGESASTV PPASTATLLS NDLEADSSYY LNSAQPHSPP RGTIELGRIL
1810 1820 1830 1840 1850
EPGYLGSSGK WDVMRPQKGS VSGDLSSGSS VYQLNSKPTG ADLLEEHLGE
1860 1870 1880 1890 1900
IRNLRQRLEE SICINDRLRE QLEHRLTSTA RGRGSTSNFY SQGLESIPQL
1910 1920 1930 1940 1950
CNENRVLRED NRRLQAQLSH VSREHSQETE SLREALLSSR SHLQELEKEL
1960 1970 1980 1990 2000
EHQKVERQQL LEDLREKQQE VLHFREERLS LQENDSRLQH KLVLLQQQCE
2010 2020 2030 2040 2050
EKQQLFESLQ SELQIYEALY GNSKKGLKAY SLDACHQIPL SSDLSHLVAE
2060 2070 2080 2090 2100
VRALRGQLEQ SIQGNNCLRL QLQQQLESGA GKASLSPSSI NQNFPASTDP
2110 2120 2130 2140 2150
GNKQLLLQDS AVSPPVRDVG MNSPALVFPS SASSTPGSET PIINRANGLG
2160 2170 2180 2190 2200
LDTSPVMKTP PKLEGDATDG SFANKHGRHV IGHIDDYSAL RQQIAEGKLL
2210 2220 2230 2240 2250
VKKIVSLVRS ACSFPGLEAQ GTEVLGSKGI HELRSSTSAL HHALEESASL
2260 2270 2280 2290 2300
LTMFWRAALP STHIPVLPGK VGESTERELL ELRTKVSKQE RLLQSTTEHL
2310 2320 2330 2340
KNANQQKESM EQFIVSQLTR THDVLKKART NLEVKSLRAL PCTPAL
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.
CCDSiCCDS72887.1. [Q5VU43-8]
CCDS72888.1. [Q5VU43-3]
CCDS72890.1. [Q5VU43-6]
CCDS72891.1. [Q5VU43-1]
CCDS72892.1. [Q5VU43-4]
CCDS72893.1. [Q5VU43-11]
CCDS72894.1. [Q5VU43-2]
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.
ENST00000369347; ENSP00000358353; ENSG00000178104. [Q5VU43-11]
ENST00000530472; ENSP00000482121; ENSG00000178104. [Q5VU43-8]
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 CCDS72887.1. [Q5VU43-8 ]
CCDS72888.1. [Q5VU43-3 ]
CCDS72890.1. [Q5VU43-6 ]
CCDS72891.1. [Q5VU43-1 ]
CCDS72892.1. [Q5VU43-4 ]
CCDS72893.1. [Q5VU43-11 ]
CCDS72894.1. [Q5VU43-2 ]
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. 39 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 .
ENST00000369347 ; ENSP00000358353 ; ENSG00000178104 . [Q5VU43-11 ]
ENST00000530472 ; ENSP00000482121 ; ENSG00000178104 . [Q5VU43-8 ]
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.
GeneTreei ENSGT00530000063845.
HOVERGENi HBG108166.
InParanoidi Q5VU43.
KOi K16549.
OMAi KELAKCD.
OrthoDBi EOG77T13M.
PhylomeDBi Q5VU43.
TreeFami TF329233.

Miscellaneous databases

GeneWikii Myomegalin.
GenomeRNAii 9659.
NextBioi 36269.
PROi Q5VU43.
SOURCEi Search...

Gene expression databases

Bgeei Q5VU43.
ExpressionAtlasi Q5VU43. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 102 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