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Q5VU43 (MYOME_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myomegalin
Alternative name(s):
Cardiomyopathy-associated protein 2
Phosphodiesterase 4D-interacting protein
Gene names
Name:PDE4DIP
Synonyms:CMYA2, KIAA0454, KIAA0477, MMGL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2346 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with PDE4D By similarity.

Subcellular location

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

Tissue specificity

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

Developmental stage

Expressed in fetal heart. Ref.1

Involvement in disease

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.

Sequence similarities

Contains 1 NBPF domain.

Sequence caution

The sequence AAH04860.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

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.

The sequence CAD91152.1 differs from that shown. Reason: Frameshift at position 1507.

The sequence CAH18128.1 differs from that shown. Reason: Probable cloning artifact.

Alternative products

This entry describes 11 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5VU43-1)

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: Q5VU43-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-210: MSNGYRTLSQ...HLLEEPTSME → MKEICRICAR...DLCEDYLPLR
     970-2346: Missing.
Isoform 3 (identifier: Q5VU43-3)

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.
Isoform 4 (identifier: Q5VU43-4)

The sequence of this isoform differs from the canonical sequence as follows:
     2334-2346: VKSLRALPCTPAL → EPCKKRSHQKSLKQQERWACPPFVQLPIC
Isoform 6 (identifier: Q5VU43-6)

The sequence of this isoform differs from the canonical sequence as follows:
     970-2346: Missing.
Isoform 7 (identifier: Q5VU43-7)

The sequence of this isoform differs from the canonical sequence as follows:
     968-988: QLVKVALEKSLATVETQNPSF → QVSQCQGLGLPGWTAHSPSEV
     989-2346: Missing.
Isoform 8 (identifier: Q5VU43-8)

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MSNGYRTLSQ → MKGTDSGSCC...QTQALRDFEK
     174-2346: Missing.
Isoform 9 (identifier: Q5VU43-9)

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MSNGYRTLSQ → MKGTDSGSCC...QTQALRDFEK
     174-174: R → I
     175-2346: Missing.
Isoform 10 (identifier: Q5VU43-10)

The sequence of this isoform differs from the canonical sequence as follows:
     174-174: R → I
     175-2346: Missing.
Isoform 11 (identifier: Q5VU43-11)

The sequence of this isoform differs from the canonical sequence as follows:
     174-2346: Missing.
Isoform 12 (identifier: Q5VU43-12)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 23462346Myomegalin
PRO_0000307690

Regions

Domain1551 – 164292NBPF
Coiled coil41 – 13292 Potential
Coiled coil162 – 20544 Potential
Coiled coil238 – 31881 Potential
Coiled coil350 – 684335 Potential
Coiled coil743 – 936194 Potential
Coiled coil1002 – 104342 Potential
Coiled coil1096 – 112429 Potential
Coiled coil1212 – 124029 Potential
Coiled coil1346 – 138540 Potential
Coiled coil1431 – 145525 Potential
Coiled coil1736 – 176025 Potential
Coiled coil1840 – 2077238 Potential
Coiled coil2273 – 231240 Potential

Sites

Site742 – 7432Breakpoint for insertion to form PDE4DIP-PDGFRB fusion protein

Amino acid modifications

Modified residue7041Phosphothreonine Ref.9

Natural variations

Alternative sequence1 – 210210MSNGY…PTSME → MKEICRICARELCGNQRRWI FHTASKLNLQVLLSHVLGKD VPRDGKAEFACSKCAFMLDR IYRFDTVIARIEALSIERLQ KLLLEKDRLKFCIASMYRKN NDDSGAEIKAGNGTVDMSVL PDARYSALLQEDFAYSGFEC WVENEDQIQEPHSCHGSEGP GNRPRRCRGCAALRVADSDY EAICKVPRKVARSISCGPSS RWSTSICTEEPALSEVGPPD LASTKVPPDGESMEEETPGS SVESLDASVQASPPQQKDEE TERSAKELGKCDCCSDDQAP QHGCNHKLELALSMIKGLDY KPIQSPRGSRLPIPVKSSLP GAKPGPSMTDGVSSGFLNRS LKPLYKTPVSYPLELSDLQE LWDDLCEDYLPLR in isoform 2.
VSP_028772
Alternative sequence1 – 1010MSNGYRTLSQ → MEQTWTRDYFAEDDGEMVPR TSHTAAFLSDTKDRGPPVQS QIWRSGEKVPFVQTYSLRAF EKPPQVQTQALRDFEK in isoform 3 and isoform 12.
VSP_028773
Alternative sequence1 – 1010MSNGYRTLSQ → MKGTDSGSCCRRRCDFGCCC RASRRAHYTPYRSGDATRTP QSPRQTPSRERRRPEPAGSW AAAAEEEEAAAAATPWMRDY FAEDDGEMVPRTSHTAAFLS DTKDRGPPVQSQIWRSGEKV PFVQTYSLRAFEKPPQVQTQ ALRDFEK in isoform 8 and isoform 9.
VSP_028774
Alternative sequence174 – 23462173Missing in isoform 8 and isoform 11.
VSP_028775
Alternative sequence1741R → I in isoform 9, isoform 10 and isoform 12.
VSP_028776
Alternative sequence175 – 23462172Missing in isoform 9, isoform 10 and isoform 12.
VSP_028777
Alternative sequence968 – 98821QLVKV…QNPSF → QVSQCQGLGLPGWTAHSPSE V in isoform 7.
VSP_028778
Alternative sequence970 – 23461377Missing in isoform 2 and isoform 6.
VSP_028779
Alternative sequence989 – 23461358Missing in isoform 7.
VSP_028780
Alternative sequence1082 – 1191110Missing in isoform 3.
VSP_028781
Alternative sequence1695 – 175662Missing in isoform 3.
VSP_028782
Alternative sequence2334 – 234613VKSLR…CTPAL → EPCKKRSHQKSLKQQERWAC PPFVQLPIC in isoform 4.
VSP_028783
Natural variant131N → S.
Corresponds to variant rs3010980 [ dbSNP | Ensembl ].
VAR_036627
Natural variant251R → L.
Corresponds to variant rs1664022 [ dbSNP | Ensembl ].
VAR_036628
Natural variant491I → T. Ref.1 Ref.6
Corresponds to variant rs573724 [ dbSNP | Ensembl ].
VAR_036629
Natural variant1431K → E.
Corresponds to variant rs1747958 [ dbSNP | Ensembl ].
VAR_056951
Natural variant1501N → S.
Corresponds to variant rs3010980 [ dbSNP | Ensembl ].
VAR_056952
Natural variant1671A → T.
Corresponds to variant rs2590120 [ dbSNP | Ensembl ].
VAR_036630
Natural variant1711R → K.
Corresponds to variant rs3121544 [ dbSNP | Ensembl ].
VAR_051204
Natural variant3911E → A.
Corresponds to variant rs1324366 [ dbSNP | Ensembl ].
VAR_051205
Natural variant4101E → V.
Corresponds to variant rs17425009 [ dbSNP | Ensembl ].
VAR_051206
Natural variant4821H → R.
Corresponds to variant rs1698681 [ dbSNP | Ensembl ].
VAR_051207
Natural variant6811R → H.
Corresponds to variant rs1629011 [ dbSNP | Ensembl ].
VAR_051208
Natural variant7081C → R. Ref.2 Ref.4 Ref.6 Ref.9
Corresponds to variant rs1628172 [ dbSNP | Ensembl ].
VAR_051209
Natural variant10131F → I. Ref.4
Corresponds to variant rs1698624 [ dbSNP | Ensembl ].
VAR_051210
Natural variant10661A → T. Ref.4
Corresponds to variant rs1698647 [ dbSNP | Ensembl ].
VAR_051211
Natural variant13591K → E. Ref.4
Corresponds to variant rs1747958 [ dbSNP | Ensembl ].
VAR_051212
Natural variant17361V → E. Ref.4
Corresponds to variant rs1778159 [ dbSNP | Ensembl ].
VAR_051213
Natural variant17421A → S. Ref.4
Corresponds to variant rs1698605 [ dbSNP | Ensembl ].
VAR_051214

Experimental info

Sequence conflict331M → T in CAD89923. Ref.4
Sequence conflict981T → M in BAB17761. Ref.1
Sequence conflict981T → M in BAB17762. Ref.1
Sequence conflict1091I → M in BAB17759. Ref.1
Sequence conflict1091I → M in BAB17760. Ref.1
Sequence conflict1091I → M in BAB17761. Ref.1
Sequence conflict1091I → M in BAB17762. Ref.1
Sequence conflict1091I → M in AAH25406. Ref.6
Sequence conflict1091I → M in AAI10295. Ref.6
Sequence conflict4011R → Q in CAD91152. Ref.4
Sequence conflict6431M → V in CAD91152. Ref.4
Sequence conflict7761L → P in CAD91152. Ref.4
Sequence conflict7831M → I in CAD38529. Ref.4
Sequence conflict7831M → I in AAI32718. Ref.6
Sequence conflict8301L → P in CAD91152. Ref.4
Sequence conflict8631L → P in CAD38529. Ref.4
Sequence conflict12661K → E in CAH18128. Ref.4
Sequence conflict12861E → G in CAD91152. Ref.4
Sequence conflict13561K → R in CAD91152. Ref.4
Sequence conflict13961W → R in BAA32299. Ref.2
Sequence conflict13961W → R in CAD91152. Ref.4
Sequence conflict13961W → R in CAH18128. Ref.4
Sequence conflict13971K → E in CAD91152. Ref.4
Sequence conflict14541K → E in CAH18128. Ref.4
Sequence conflict15041R → Q in CAH18128. Ref.4
Sequence conflict15981H → R in CAH18128. Ref.4
Sequence conflict16101T → P in CAH18128. Ref.4
Sequence conflict17271L → P in CAH18128. Ref.4
Sequence conflict17571A → T in CAH18128. Ref.4
Sequence conflict18671R → C in CAH18128. Ref.4
Sequence conflict19101D → E in CAH18128. Ref.4
Sequence conflict20011E → G in CAH18128. Ref.4
Sequence conflict20881Missing in CAH18128. Ref.4
Sequence conflict22911R → Q in CAH18128. Ref.4
Sequence conflict23171Q → R in CAH18128. Ref.4

Sequences

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

Last modified December 7, 2004. Version 1.
Checksum: 6A3F3A12F959F799

FASTA2,346265,080
        10         20         30         40         50         60 
MSNGYRTLSQ HLNDLKKENF SLKLRIYFLE ERMQQKYEAS REDIYKRNIE LKVEVESLKR 

        70         80         90        100        110        120 
ELQDKKQHLD KTWADVENLN SQNEAELRRQ FEERQQETEH VYELLENKIQ LLQEESRLAK 

       130        140        150        160        170        180 
NEAARMAALV EAEKECNLEL SEKLKGVTKN WEDVPGDQVK PDQYTEALAQ RDKRIEELNQ 

       190        200        210        220        230        240 
SLAAQERLVE QLSREKQQLL HLLEEPTSME VQPMTEELLK QQKLNSHETT ITQQSVSDSH 

       250        260        270        280        290        300 
LAELQEKIQQ TEATNKILQE KLNEMSYELK CAQESSQKQD GTIQNLKETL KSRERETEEL 

       310        320        330        340        350        360 
YQVIEGQNDT MAKLREMLHQ SQLGQLHSSE GTSPAQQQVA LLDLQSALFC SQLEIQKLQR 

       370        380        390        400        410        420 
VVRQKERQLA DAKQCVQFVE AAAHESEQQK EASWKHNQEL RKALQQLQEE LQNKSQQLRA 

       430        440        450        460        470        480 
WEAEKYNEIR TQEQNIQHLN HSLSHKEQLL QEFRELLQYR DNSDKTLEAN EMLLEKLRQR 

       490        500        510        520        530        540 
IHDKAVALER AIDEKFSALE EKEKELRQLR LAVRERDHDL ERLRDVLSSN EATMQSMESL 

       550        560        570        580        590        600 
LRAKGLEVEQ LSTTCQNLQW LKEEMETKFS RWQKEQESII QQLQTSLHDR NKEVEDLSAT 

       610        620        630        640        650        660 
LLCKLGPGQS EIAEELCQRL QRKERMLQDL LSDRNKQVLE HEMEIQGLLQ SVSTREQESQ 

       670        680        690        700        710        720 
AAAEKLVQAL MERNSELQAL RQYLGGRDSL MSQAPISNQQ AEVTPTGCLG KQTDQGSMQI 

       730        740        750        760        770        780 
PSRDDSTSLT AKEDVSIPRS TLGDLDTVAG LEKELSNAKE ELELMAKKER ESQMELSALQ 

       790        800        810        820        830        840 
SMMAVQEEEL QVQAADMESL TRNIQIKEDL IKDLQMQLVD PEDIPAMERL TQEVLLLREK 

       850        860        870        880        890        900 
VASVESQGQE ISGNRRQQLL LMLEGLVDER SRLNEALQAE RQLYSSLVKF HAHPESSERD 

       910        920        930        940        950        960 
RTLQVELEGA QVLRSRLEEV LGRSLERLNR LETLAAIGGA AAGDDTEDTS TEFTDSIEEE 

       970        980        990       1000       1010       1020 
AAHHSHQQLV KVALEKSLAT VETQNPSFSP PSPMGGDSNR CLQEEMLHLR AEFHQHLEEK 

      1030       1040       1050       1060       1070       1080 
RKAEEELKEL KAQIEEAGFS SVSHIRNTML SLCLENAELK EQMGEAMSDG WEIEEDKEKG 

      1090       1100       1110       1120       1130       1140 
EVMVETVVTK EGLSESSLQA EFRKLQGKLK NAHNIINLLK EQLVLSSKEG NSKLTPELLV 

      1150       1160       1170       1180       1190       1200 
HLTSTIERIN TELVGSPGKH QHQEEGNVTV RPFPRPQSLD LGATFTVDAH QLDNQSQPRD 

      1210       1220       1230       1240       1250       1260 
PGPQSAFSLP GSTQHLRSQL SQCKQRYQDL QEKLLLSEAT VFAQANELEK YRVMLTGESL 

      1270       1280       1290       1300       1310       1320 
VKQDSKQIQV DLQDLGYETC GRSENEAERE ETTSPECEEH NSLKEMVLME GLCSEQGRRG 

      1330       1340       1350       1360       1370       1380 
STLASSSERK PLENQLGKQE EFRVYGKSEN ILVLRKDIKD LKAQLQNANK VIQNLKSRVR 

      1390       1400       1410       1420       1430       1440 
SLSVTSDYSS SLERPWKLRA VGTLEGSSPH SVPDEDEGWL SDGTGAFYSP GLQAKKDLES 

      1450       1460       1470       1480       1490       1500 
LIQRVSQLEA QLPKNGLEEK LAEELRSASW PGKYDSLIQD QARELSYLRQ KIREGRGICY 

      1510       1520       1530       1540       1550       1560 
LITRHAKDTV KSFEDLLRSN DIDYYLGQSF REQLAQGSQL TERLTSKLST KDHKSEKDQA 

      1570       1580       1590       1600       1610       1620 
GLEPLALRLS RELQEKEKVI EVLQAKLDAR SLTPSSSHAL SDSHRSPSST SFLSDELEAC 

      1630       1640       1650       1660       1670       1680 
SDMDIVSEYT HYEEKKASPS HSDSIHHSSH SAVLSSKPSS TSASQGAKAE SNSNPISLPT 

      1690       1700       1710       1720       1730       1740 
PQNTPKEANQ AHSGFHFHSI PKLASLPQAP LPSAPSSFLP FSPTGPLLLG CCETPVVSLA 

      1750       1760       1770       1780       1790       1800 
EAQQELQMLQ KQLGESASTV PPASTATLLS NDLEADSSYY LNSAQPHSPP RGTIELGRIL 

      1810       1820       1830       1840       1850       1860 
EPGYLGSSGK WDVMRPQKGS VSGDLSSGSS VYQLNSKPTG ADLLEEHLGE IRNLRQRLEE 

      1870       1880       1890       1900       1910       1920 
SICINDRLRE QLEHRLTSTA RGRGSTSNFY SQGLESIPQL CNENRVLRED NRRLQAQLSH 

      1930       1940       1950       1960       1970       1980 
VSREHSQETE SLREALLSSR SHLQELEKEL EHQKVERQQL LEDLREKQQE VLHFREERLS 

      1990       2000       2010       2020       2030       2040 
LQENDSRLQH KLVLLQQQCE EKQQLFESLQ SELQIYEALY GNSKKGLKAY SLDACHQIPL 

      2050       2060       2070       2080       2090       2100 
SSDLSHLVAE VRALRGQLEQ SIQGNNCLRL QLQQQLESGA GKASLSPSSI NQNFPASTDP 

      2110       2120       2130       2140       2150       2160 
GNKQLLLQDS AVSPPVRDVG MNSPALVFPS SASSTPGSET PIINRANGLG LDTSPVMKTP 

      2170       2180       2190       2200       2210       2220 
PKLEGDATDG SFANKHGRHV IGHIDDYSAL RQQIAEGKLL VKKIVSLVRS ACSFPGLEAQ 

      2230       2240       2250       2260       2270       2280 
GTEVLGSKGI HELRSSTSAL HHALEESASL LTMFWRAALP STHIPVLPGK VGESTERELL 

      2290       2300       2310       2320       2330       2340 
ELRTKVSKQE RLLQSTTEHL KNANQQKESM EQFIVSQLTR THDVLKKART NLEVKSLRAL 


PCTPAL 

« Hide

Isoform 2 [UniParc].

Checksum: 40CEB5FFCA2BABB4
Show »

FASTA1,132128,464
Isoform 3 [UniParc].

Checksum: 2DFC5B468527B49F
Show »

FASTA2,240254,046
Isoform 4 [UniParc].

Checksum: C6BD7842F5469163
Show »

FASTA2,362267,177
Isoform 6 [UniParc].

Checksum: FCF313B1FF5F570A
Show »

FASTA969112,232
Isoform 7 [UniParc].

Checksum: 57F22472B4FCC6E8
Show »

FASTA988114,154
Isoform 8 [UniParc].

Checksum: 0E2AF02001FE1AD7
Show »

FASTA31036,121
Isoform 9 [UniParc].

Checksum: CB2E2AF02001FE1A
Show »

FASTA31136,234
Isoform 10 [UniParc].

Checksum: 1A5F8C9A64D2F3F7
Show »

FASTA17420,798
Isoform 11 [UniParc].

Checksum: EF8C9A64D2F3F758
Show »

FASTA17320,685
Isoform 12 [UniParc].

Checksum: F145659765664C06
Show »

FASTA24028,507

References

« Hide 'large scale' references
[1]"Isolation of novel heart-specific genes using the BodyMap database."
Soejima H., Kawamoto S., Akai J., Miyoshi O., Arai Y., Morohka T., Matsuo S., Niikawa N., Kimura A., Okubo K., Mukai T.
Genomics 74:115-120(2001) [PubMed] [Europe PMC] [Abstract]
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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. 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] 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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS30824.1. [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]
PIRT00069.
T00259.
RefSeqNP_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]
UniGeneHs.584841.
Hs.613082.
Hs.657490.
Hs.731111.

3D structure databases

ProteinModelPortalQ5VU43.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115017. 32 interactions.
DIPDIP-51263N.
IntActQ5VU43. 35 interactions.
MINTMINT-1183984.

Polymorphism databases

DMDM74747041.

Proteomic databases

MaxQBQ5VU43.
PaxDbQ5VU43.
PRIDEQ5VU43.

Protocols and materials databases

DNASU9659.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000313382; ENSP00000327209; ENSG00000178104. [Q5VU43-3]
ENST00000313431; ENSP00000316434; ENSG00000178104. [Q5VU43-2]
ENST00000369347; ENSP00000358353; ENSG00000178104. [Q5VU43-11]
ENST00000369348; ENSP00000358354; ENSG00000178104. [Q5VU43-8]
ENST00000369349; ENSP00000358355; ENSG00000178104. [Q5VU43-6]
ENST00000369351; ENSP00000358357; ENSG00000178104. [Q5VU43-7]
ENST00000369354; ENSP00000358360; ENSG00000178104. [Q5VU43-1]
ENST00000369356; ENSP00000358363; ENSG00000178104. [Q5VU43-4]
GeneID9659.
KEGGhsa:100996761.
hsa:9659.
UCSCuc001elk.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

CTD9659.
GeneCardsGC01M144836.
H-InvDBHIX0178151.
HGNCHGNC:15580. PDE4DIP.
HPAHPA008162.
HPA012678.
MIM608117. gene.
neXtProtNX_Q5VU43.
PharmGKBPA33131.
HUGESearch...
Search...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG46262.
HOVERGENHBG108166.
KOK16549.
OMAKELAKCD.
OrthoDBEOG77T13M.
PhylomeDBQ5VU43.
TreeFamTF329233.

Gene expression databases

ArrayExpressQ5VU43.
BgeeQ5VU43.
GenevestigatorQ5VU43.

Family and domain databases

InterProIPR010630. NBPF_dom.
IPR012943. Spindle_assoc.
[Graphical view]
PfamPF06758. DUF1220. 1 hit.
PF07989. Microtub_assoc. 1 hit.
[Graphical view]
PROSITEPS51316. NBPF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMyomegalin.
NextBio36269.
PROQ5VU43.
SOURCESearch...

Entry information

Entry nameMYOME_HUMAN
AccessionPrimary (citable) accession number: Q5VU43
Secondary accession number(s): A2RU15 expand/collapse secondary AC list , O75042, O75065, Q2YDC1, Q5VU42, Q5VU44, Q5VU45, Q5VU46, Q5VU47, Q5VU48, Q5VU49, Q68DU2, Q6AZ93, Q6PK88, Q86T40, Q86TB2, Q8N3W0, Q8TAY9, Q9HCP2, Q9HCP3, Q9HCP4, Q9HCP5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: December 7, 2004
Last modified: July 9, 2014
This is version 99 of the entry and version 1 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

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 1

Human chromosome 1: entries, gene names and cross-references to MIM