ID MYOME_HUMAN Reviewed; 2346 AA. AC Q5VU43; A2RU15; O75042; O75065; Q2YDC1; Q5VU42; Q5VU44; Q5VU45; AC Q5VU46; Q5VU47; Q5VU48; Q5VU49; Q68DU2; Q6AZ93; Q6PK88; Q86T40; AC Q86TB2; Q8N3W0; Q8TAY9; Q9HCP2; Q9HCP3; Q9HCP4; Q9HCP5; DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot. DT 07-DEC-2004, sequence version 1. DT 11-NOV-2015, entry version 111. DE RecName: Full=Myomegalin; DE AltName: Full=Cardiomyopathy-associated protein 2; DE AltName: Full=Phosphodiesterase 4D-interacting protein; GN Name=PDE4DIP; Synonyms=CMYA2, KIAA0454, KIAA0477, MMGL; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 10; 11 AND 12), SUBCELLULAR RP LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND VARIANT THR-49. RC TISSUE=Myocardium; RX PubMed=11374908; DOI=10.1006/geno.2001.6527; RA Soejima H., Kawamoto S., Akai J., Miyoshi O., Arai Y., Morohka T., RA Matsuo S., Niikawa N., Kimura A., Okubo K., Mukai T.; RT "Isolation of novel heart-specific genes using the BodyMap database."; RL Genomics 74:115-120(2001). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT RP ARG-708. RC TISSUE=Brain; RX PubMed=9455484; DOI=10.1093/dnares/4.5.345; RA Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., RA Nomura N., Ohara O.; RT "Characterization of cDNA clones in size-fractionated cDNA libraries RT from human brain."; RL DNA Res. 4:345-349(1997). RN [3] RP SEQUENCE REVISION. RX PubMed=12168954; DOI=10.1093/dnares/9.3.99; RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.; RT "Construction of expression-ready cDNA clones for KIAA genes: manual RT curation of 330 KIAA cDNA clones."; RL DNA Res. 9:99-106(2002). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 6 AND 7), AND RP VARIANTS ARG-708; ILE-1013; THR-1066; GLU-1359; GLU-1736 AND SER-1742. RC TISSUE=Amygdala, and Skeletal muscle; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16710414; DOI=10.1038/nature04727; RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C., RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., RA Beck S., Rogers J., Bentley D.R.; RT "The DNA sequence and biological annotation of human chromosome 1."; RL Nature 441:315-321(2006). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 8 AND 9), AND RP VARIANTS THR-49 AND ARG-708. RC TISSUE=Brain, and Placenta; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2261-2346 (ISOFORM 4). RC TISSUE=Skeletal muscle; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [8] RP CHROMOSOMAL TRANSLOCATION WITH PDGFRB. RX PubMed=12907457; DOI=10.1182/blood-2003-04-1150; RA Wilkinson K., Velloso E.R.P., Lopes L.F., Lee C., Aster J.C., RA Shipp M.A., Aguiar R.C.T.; RT "Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder RT associated with eosinophilia: involvement of PDGFRB and response to RT imatinib."; RL Blood 102:4187-4190(2003). RN [9] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-704, VARIANT [LARGE RP SCALE ANALYSIS] ARG-708, AND IDENTIFICATION BY MASS SPECTROMETRY RP [LARGE SCALE ANALYSIS]. RC TISSUE=Cervix carcinoma; RX PubMed=18669648; DOI=10.1073/pnas.0805139105; RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., RA Elledge S.J., Gygi S.P.; RT "A quantitative atlas of mitotic phosphorylation."; RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008). RN [10] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=21269460; DOI=10.1186/1752-0509-5-17; RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.; RT "Initial characterization of the human central proteome."; RL BMC Syst. Biol. 5:17-17(2011). RN [11] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-252 (ISOFORM 2), AND RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Liver; RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014; RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., RA Wang L., Ye M., Zou H.; RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human RT liver phosphoproteome."; RL J. Proteomics 96:253-262(2014). CC -!- FUNCTION: May function as an anchor sequestering components of the CC cAMP-dependent pathway to Golgi and/or centrosomes. {ECO:0000250}. CC -!- SUBUNIT: Interacts with PDE4D. {ECO:0000250}. CC -!- INTERACTION: CC Q9H6F0:-; NbExp=3; IntAct=EBI-1105124, EBI-10307481; CC Q8WTP8:AEN; NbExp=3; IntAct=EBI-1105124, EBI-8637627; CC Q8R560:Ankrd1 (xeno); NbExp=2; IntAct=EBI-10769071, EBI-10817505; CC Q13895:BYSL; NbExp=5; IntAct=EBI-1105124, EBI-358049; CC Q17R99:C14orf105; NbExp=3; IntAct=EBI-1105124, EBI-10238351; CC Q9NUL5:C19orf66; NbExp=3; IntAct=EBI-1105124, EBI-10313866; CC Q9NX04:C1orf109; NbExp=3; IntAct=EBI-1105124, EBI-8643161; CC Q9NX63:CHCHD3; NbExp=3; IntAct=EBI-1105124, EBI-743375; CC Q9H0A8:COMMD4; NbExp=4; IntAct=EBI-10769071, EBI-1550064; CC P04764:Eno1 (xeno); NbExp=2; IntAct=EBI-10769071, EBI-915852; CC P15429:Eno3 (xeno); NbExp=2; IntAct=EBI-10769071, EBI-10817548; CC Q3B820:FAM161A; NbExp=3; IntAct=EBI-1105124, EBI-719941; CC Q5TZK3:FAM74A6; NbExp=3; IntAct=EBI-1105124, EBI-10247271; CC Q0D2H9:GOLGA8DP; NbExp=3; IntAct=EBI-1105124, EBI-10181276; CC Q08AF8:GOLGA8G; NbExp=3; IntAct=EBI-1105124, EBI-10181260; CC Q96CS2:HAUS1; NbExp=3; IntAct=EBI-1105124, EBI-2514791; CC Q6P597:KLC3; NbExp=3; IntAct=EBI-1105124, EBI-1643885; CC Q96BZ8:LENG1; NbExp=3; IntAct=EBI-1105124, EBI-726510; CC P61968:LMO4; NbExp=3; IntAct=EBI-1105124, EBI-2798728; CC Q15691:MAPRE1; NbExp=3; IntAct=EBI-1105124, EBI-1004115; CC A9UHW6:MIF4GD; NbExp=3; IntAct=EBI-1105124, EBI-373498; CC Q5JR59:MTUS2; NbExp=3; IntAct=EBI-1105124, EBI-742948; CC Q14896:MYBPC3; NbExp=5; IntAct=EBI-10769071, EBI-704176; CC P41227:NAA10; NbExp=3; IntAct=EBI-1105124, EBI-747693; CC Q6NYC8:PPP1R18; NbExp=3; IntAct=EBI-1105124, EBI-2557469; CC P09456:Prkar1a (xeno); NbExp=2; IntAct=EBI-10769071, EBI-916215; CC P12368:Prkar2a (xeno); NbExp=2; IntAct=EBI-10769071, EBI-919521; CC F1T0A5:PRPF31; NbExp=3; IntAct=EBI-1105124, EBI-10177194; CC Q14D33:RTP5; NbExp=3; IntAct=EBI-1105124, EBI-10217913; CC Q9BWG6:SCNM1; NbExp=3; IntAct=EBI-1105124, EBI-748391; CC O00560:SDCBP; NbExp=3; IntAct=EBI-1105124, EBI-727004; CC Q9H788:SH2D4A; NbExp=3; IntAct=EBI-1105124, EBI-747035; CC Q9H788-2:SH2D4A; NbExp=3; IntAct=EBI-1105124, EBI-10308083; CC P19429:TNNI3; NbExp=4; IntAct=EBI-10769071, EBI-704146; CC P23693:Tnni3 (xeno); NbExp=2; IntAct=EBI-10769071, EBI-10817583; CC Q08E77:UTP14C; NbExp=3; IntAct=EBI-1105124, EBI-10225961; CC Q9BQ24:ZFYVE21; NbExp=3; IntAct=EBI-1105124, EBI-2849569; CC Q9H9D4:ZNF408; NbExp=3; IntAct=EBI-1105124, EBI-347633; CC Q9P0T4:ZNF581; NbExp=3; IntAct=EBI-1105124, EBI-745520; CC Q16670:ZSCAN26; NbExp=3; IntAct=EBI-1105124, EBI-3920053; CC -!- SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250}. Cytoplasm, CC cytoskeleton, microtubule organizing center, centrosome CC {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:11374908}. Nucleus CC {ECO:0000269|PubMed:11374908}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=11; CC Name=1; CC IsoId=Q5VU43-1; Sequence=Displayed; CC Name=2; CC IsoId=Q5VU43-2; Sequence=VSP_028772, VSP_028779; CC Note=Contains a phosphoserine at position 252. CC {ECO:0000244|PubMed:24275569}; CC Name=3; CC IsoId=Q5VU43-3; Sequence=VSP_028773, VSP_028781, VSP_028782; CC Note=No experimental confirmation available.; CC Name=4; CC IsoId=Q5VU43-4; Sequence=VSP_028783; CC Name=6; CC IsoId=Q5VU43-6; Sequence=VSP_028779; CC Name=7; CC IsoId=Q5VU43-7; Sequence=VSP_028778, VSP_028780; CC Name=8; CC IsoId=Q5VU43-8; Sequence=VSP_028774, VSP_028775; CC Name=9; CC IsoId=Q5VU43-9; Sequence=VSP_028774, VSP_028776, VSP_028777; CC Name=10; CC IsoId=Q5VU43-10; Sequence=VSP_028776, VSP_028777; CC Name=11; CC IsoId=Q5VU43-11; Sequence=VSP_028775; CC Name=12; CC IsoId=Q5VU43-12; Sequence=VSP_028773, VSP_028776, VSP_028777; CC -!- TISSUE SPECIFICITY: Highly expressed in heart and skeletal muscle CC and to a lower extent in brain and placenta. CC {ECO:0000269|PubMed:11374908}. CC -!- DEVELOPMENTAL STAGE: Expressed in fetal heart. CC {ECO:0000269|PubMed:11374908}. CC -!- DISEASE: Note=A chromosomal aberration involving PDE4DIP may be CC the cause of a myeloproliferative disorder (MBD) associated with CC eosinophilia. Translocation t(1;5)(q23;q33) that forms a PDE4DIP- CC PDGFRB fusion protein. CC -!- SIMILARITY: Contains 1 NBPF domain. {ECO:0000255|PROSITE- CC ProRule:PRU00647}. CC -!- SEQUENCE CAUTION: CC Sequence=AAH04860.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; CC Sequence=BAA32299.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; CC Sequence=BAA32322.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; CC Sequence=CAD91152.1; Type=Frameshift; Positions=1507; Evidence={ECO:0000305}; CC Sequence=CAH18128.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology CC and Haematology; CC URL="http://atlasgeneticsoncology.org/Genes/PDE4DIP01q22ID180.html"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AB042555; BAB17759.1; -; mRNA. DR EMBL; AB042556; BAB17760.1; -; mRNA. DR EMBL; AB042557; BAB17761.1; -; mRNA. DR EMBL; AB042558; BAB17762.1; -; mRNA. DR EMBL; AB007923; BAA32299.2; ALT_INIT; mRNA. DR EMBL; AB007946; BAA32322.2; ALT_INIT; mRNA. DR EMBL; AL831815; CAD38529.1; -; mRNA. DR EMBL; AL832024; CAD89923.1; -; mRNA. DR EMBL; AL833273; CAD91152.1; ALT_FRAME; mRNA. DR EMBL; CR749273; CAH18128.1; ALT_SEQ; mRNA. DR EMBL; AL590452; CAH72521.1; -; Genomic_DNA. DR EMBL; AL138791; CAH72521.1; JOINED; Genomic_DNA. DR EMBL; AL590452; CAH72522.1; -; Genomic_DNA. DR EMBL; AL138796; CAH72522.1; JOINED; Genomic_DNA. DR EMBL; AL590452; CAH72523.1; -; Genomic_DNA. DR EMBL; AL138796; CAH72523.1; JOINED; Genomic_DNA. DR EMBL; AL590452; CAH72524.1; -; Genomic_DNA. DR EMBL; AL138796; CAH72524.1; JOINED; Genomic_DNA. DR EMBL; AL590452; CAH72525.1; -; Genomic_DNA. DR EMBL; AL590452; CAH72526.1; -; Genomic_DNA. DR EMBL; AL138796; CAH72526.1; JOINED; Genomic_DNA. DR EMBL; AL590452; CAH72527.1; -; Genomic_DNA. DR EMBL; AL138796; CAH72527.1; JOINED; Genomic_DNA. DR EMBL; AL590452; CAH72528.1; -; Genomic_DNA. DR EMBL; AL138796; CAH72528.1; JOINED; Genomic_DNA. DR EMBL; AL138791; CAI22527.1; -; Genomic_DNA. DR EMBL; AL590452; CAI22527.1; JOINED; Genomic_DNA. DR EMBL; AL138796; CAI22822.1; -; Genomic_DNA. DR EMBL; AL590452; CAI22822.1; JOINED; Genomic_DNA. DR EMBL; AL138796; CAI22823.1; -; Genomic_DNA. DR EMBL; AL590452; CAI22823.1; JOINED; Genomic_DNA. DR EMBL; AL138796; CAI22824.1; -; Genomic_DNA. DR EMBL; AL590452; CAI22824.1; JOINED; Genomic_DNA. DR EMBL; AL138796; CAI22825.1; -; Genomic_DNA. DR EMBL; AL590452; CAI22825.1; JOINED; Genomic_DNA. DR EMBL; AL138796; CAI22826.1; -; Genomic_DNA. DR EMBL; AL590452; CAI22826.1; JOINED; Genomic_DNA. DR EMBL; AL138796; CAI22827.1; -; Genomic_DNA. DR EMBL; AL590452; CAI22827.1; JOINED; Genomic_DNA. DR EMBL; BC004860; AAH04860.1; ALT_SEQ; mRNA. DR EMBL; BC025406; AAH25406.1; -; mRNA. DR EMBL; BC078660; AAH78660.1; -; mRNA. DR EMBL; BC110294; AAI10295.1; -; mRNA. DR EMBL; BC132717; AAI32718.1; -; mRNA. DR EMBL; BC152439; AAI52440.1; -; mRNA. DR EMBL; DA900724; -; NOT_ANNOTATED_CDS; mRNA. DR CCDS; CCDS72887.1; -. [Q5VU43-8] DR CCDS; CCDS72888.1; -. [Q5VU43-3] DR CCDS; CCDS72890.1; -. [Q5VU43-6] DR CCDS; CCDS72891.1; -. [Q5VU43-1] DR CCDS; CCDS72892.1; -. [Q5VU43-4] DR CCDS; CCDS72893.1; -. [Q5VU43-11] DR CCDS; CCDS72894.1; -. [Q5VU43-2] DR PIR; T00069; T00069. DR PIR; T00259; T00259. DR RefSeq; NP_001002810.1; NM_001002810.3. [Q5VU43-11] DR RefSeq; NP_001002811.2; NM_001002811.2. DR RefSeq; NP_001002812.2; NM_001002812.2. DR RefSeq; NP_001182189.1; NM_001195260.1. DR RefSeq; NP_001182190.1; NM_001195261.1. DR RefSeq; NP_001185761.2; NM_001198832.2. DR RefSeq; NP_001185763.3; NM_001198834.3. DR RefSeq; NP_055459.5; NM_014644.5. DR RefSeq; NP_071754.3; NM_022359.5. [Q5VU43-8] DR UniGene; Hs.584841; -. DR UniGene; Hs.613082; -. DR UniGene; Hs.657490; -. DR UniGene; Hs.731111; -. DR ProteinModelPortal; Q5VU43; -. DR BioGrid; 115017; 124. DR DIP; DIP-51263N; -. DR IntAct; Q5VU43; 84. DR MINT; MINT-1183984; -. DR STRING; 9606.ENSP00000358363; -. DR BioMuta; PDE4DIP; -. DR DMDM; 74747041; -. DR MaxQB; Q5VU43; -. DR PaxDb; Q5VU43; -. DR PRIDE; Q5VU43; -. DR DNASU; 9659; -. DR Ensembl; ENST00000369347; ENSP00000358353; ENSG00000178104. [Q5VU43-11] DR Ensembl; ENST00000530472; ENSP00000482121; ENSG00000178104. [Q5VU43-8] DR GeneID; 9659; -. DR KEGG; hsa:9659; -. DR UCSC; uc001elk.2; human. [Q5VU43-11] DR UCSC; uc001eln.4; human. [Q5VU43-12] DR UCSC; uc001elo.3; human. [Q5VU43-8] DR UCSC; uc001elv.4; human. [Q5VU43-1] DR UCSC; uc001elx.4; human. [Q5VU43-3] DR UCSC; uc001emb.1; human. [Q5VU43-2] DR UCSC; uc001emc.2; human. [Q5VU43-6] DR UCSC; uc001emd.2; human. [Q5VU43-7] DR UCSC; uc021ouh.1; human. [Q5VU43-4] DR CTD; 9659; -. DR GeneCards; PDE4DIP; -. DR H-InvDB; HIX0178151; -. DR HGNC; HGNC:15580; PDE4DIP. DR HPA; HPA008162; -. DR HPA; HPA012678; -. DR MIM; 608117; gene. DR neXtProt; NX_Q5VU43; -. DR PharmGKB; PA33131; -. DR eggNOG; ENOG410J2NR; Eukaryota. DR eggNOG; ENOG411281S; LUCA. DR GeneTree; ENSGT00530000063845; -. DR HOVERGEN; HBG108166; -. DR InParanoid; Q5VU43; -. DR KO; K16549; -. DR OrthoDB; EOG77T13M; -. DR PhylomeDB; Q5VU43; -. DR TreeFam; TF329233; -. DR GeneWiki; Myomegalin; -. DR GenomeRNAi; 9659; -. DR NextBio; 36269; -. DR PRO; PR:Q5VU43; -. DR Proteomes; UP000005640; Chromosome 1. DR Bgee; Q5VU43; -. DR ExpressionAtlas; Q5VU43; baseline and differential. DR Genevisible; Q5VU43; HS. DR GO; GO:0005813; C:centrosome; IDA:UniProtKB. DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB. DR GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB. DR GO; GO:0030016; C:myofibril; ISS:UniProtKB. DR GO; GO:0005634; C:nucleus; IDA:UniProtKB. DR GO; GO:0019899; F:enzyme binding; ISS:UniProtKB. DR GO; GO:0043623; P:cellular protein complex assembly; ISS:UniProtKB. DR InterPro; IPR012943; Cnn_1N. DR InterPro; IPR010630; NBPF_dom. DR Pfam; PF07989; Cnn_1N; 1. DR Pfam; PF06758; DUF1220; 1. DR PROSITE; PS51316; NBPF; 1. PE 1: Evidence at protein level; KW Alternative splicing; Chromosomal rearrangement; Coiled coil; KW Complete proteome; Cytoplasm; Cytoskeleton; Golgi apparatus; Nucleus; KW Phosphoprotein; Polymorphism; Reference proteome. FT CHAIN 1 2346 Myomegalin. FT /FTId=PRO_0000307690. FT DOMAIN 1551 1642 NBPF. {ECO:0000255|PROSITE- FT ProRule:PRU00647}. FT COILED 41 132 {ECO:0000255}. FT COILED 162 205 {ECO:0000255}. FT COILED 238 318 {ECO:0000255}. FT COILED 350 684 {ECO:0000255}. FT COILED 743 936 {ECO:0000255}. FT COILED 1002 1043 {ECO:0000255}. FT COILED 1096 1124 {ECO:0000255}. FT COILED 1212 1240 {ECO:0000255}. FT COILED 1346 1385 {ECO:0000255}. FT COILED 1431 1455 {ECO:0000255}. FT COILED 1736 1760 {ECO:0000255}. FT COILED 1840 2077 {ECO:0000255}. FT COILED 2273 2312 {ECO:0000255}. FT SITE 742 743 Breakpoint for insertion to form PDE4DIP- FT PDGFRB fusion protein. FT MOD_RES 704 704 Phosphothreonine. FT {ECO:0000244|PubMed:18669648}. FT VAR_SEQ 1 210 MSNGYRTLSQHLNDLKKENFSLKLRIYFLEERMQQKYEASR FT EDIYKRNIELKVEVESLKRELQDKKQHLDKTWADVENLNSQ FT NEAELRRQFEERQQETEHVYELLENKIQLLQEESRLAKNEA FT ARMAALVEAEKECNLELSEKLKGVTKNWEDVPGDQVKPDQY FT TEALAQRDKRIEELNQSLAAQERLVEQLSREKQQLLHLLEE FT PTSME -> MKEICRICARELCGNQRRWIFHTASKLNLQVL FT LSHVLGKDVPRDGKAEFACSKCAFMLDRIYRFDTVIARIEA FT LSIERLQKLLLEKDRLKFCIASMYRKNNDDSGAEIKAGNGT FT VDMSVLPDARYSALLQEDFAYSGFECWVENEDQIQEPHSCH FT GSEGPGNRPRRCRGCAALRVADSDYEAICKVPRKVARSISC FT GPSSRWSTSICTEEPALSEVGPPDLASTKVPPDGESMEEET FT PGSSVESLDASVQASPPQQKDEETERSAKELGKCDCCSDDQ FT APQHGCNHKLELALSMIKGLDYKPIQSPRGSRLPIPVKSSL FT PGAKPGPSMTDGVSSGFLNRSLKPLYKTPVSYPLELSDLQE FT LWDDLCEDYLPLR (in isoform 2). FT {ECO:0000303|PubMed:15489334, FT ECO:0000303|PubMed:9455484}. FT /FTId=VSP_028772. FT VAR_SEQ 1 10 MSNGYRTLSQ -> MEQTWTRDYFAEDDGEMVPRTSHTAAF FT LSDTKDRGPPVQSQIWRSGEKVPFVQTYSLRAFEKPPQVQT FT QALRDFEK (in isoform 3 and isoform 12). FT {ECO:0000303|PubMed:11374908, FT ECO:0000303|PubMed:9455484}. FT /FTId=VSP_028773. FT VAR_SEQ 1 10 MSNGYRTLSQ -> MKGTDSGSCCRRRCDFGCCCRASRRAH FT YTPYRSGDATRTPQSPRQTPSRERRRPEPAGSWAAAAEEEE FT AAAAATPWMRDYFAEDDGEMVPRTSHTAAFLSDTKDRGPPV FT QSQIWRSGEKVPFVQTYSLRAFEKPPQVQTQALRDFEK FT (in isoform 8 and isoform 9). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_028774. FT VAR_SEQ 174 2346 Missing (in isoform 8 and isoform 11). FT {ECO:0000303|PubMed:11374908, FT ECO:0000303|PubMed:15489334}. FT /FTId=VSP_028775. FT VAR_SEQ 174 174 R -> I (in isoform 9, isoform 10 and FT isoform 12). FT {ECO:0000303|PubMed:11374908, FT ECO:0000303|PubMed:15489334}. FT /FTId=VSP_028776. FT VAR_SEQ 175 2346 Missing (in isoform 9, isoform 10 and FT isoform 12). FT {ECO:0000303|PubMed:11374908, FT ECO:0000303|PubMed:15489334}. FT /FTId=VSP_028777. FT VAR_SEQ 968 988 QLVKVALEKSLATVETQNPSF -> QVSQCQGLGLPGWTAH FT SPSEV (in isoform 7). FT {ECO:0000303|PubMed:17974005}. FT /FTId=VSP_028778. FT VAR_SEQ 970 2346 Missing (in isoform 2 and isoform 6). FT {ECO:0000303|PubMed:15489334, FT ECO:0000303|PubMed:17974005, FT ECO:0000303|PubMed:9455484}. FT /FTId=VSP_028779. FT VAR_SEQ 989 2346 Missing (in isoform 7). FT {ECO:0000303|PubMed:17974005}. FT /FTId=VSP_028780. FT VAR_SEQ 1082 1191 Missing (in isoform 3). FT {ECO:0000303|PubMed:9455484}. FT /FTId=VSP_028781. FT VAR_SEQ 1695 1756 Missing (in isoform 3). FT {ECO:0000303|PubMed:9455484}. FT /FTId=VSP_028782. FT VAR_SEQ 2334 2346 VKSLRALPCTPAL -> EPCKKRSHQKSLKQQERWACPPFV FT QLPIC (in isoform 4). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_028783. FT VARIANT 13 13 N -> S (in dbSNP:rs3010980). FT /FTId=VAR_036627. FT VARIANT 25 25 R -> L (in dbSNP:rs1664022). FT /FTId=VAR_036628. FT VARIANT 49 49 I -> T (in dbSNP:rs573724). FT {ECO:0000269|PubMed:11374908, FT ECO:0000269|PubMed:15489334}. FT /FTId=VAR_036629. FT VARIANT 143 143 K -> E (in dbSNP:rs1747958). FT /FTId=VAR_056951. FT VARIANT 150 150 N -> S (in dbSNP:rs3010980). FT /FTId=VAR_056952. FT VARIANT 167 167 A -> T (in dbSNP:rs2590120). FT /FTId=VAR_036630. FT VARIANT 171 171 R -> K (in dbSNP:rs3121544). FT /FTId=VAR_051204. FT VARIANT 391 391 E -> A (in dbSNP:rs1324366). FT /FTId=VAR_051205. FT VARIANT 410 410 E -> V (in dbSNP:rs17425009). FT /FTId=VAR_051206. FT VARIANT 482 482 H -> R (in dbSNP:rs1698681). FT /FTId=VAR_051207. FT VARIANT 681 681 R -> H (in dbSNP:rs1629011). FT /FTId=VAR_051208. FT VARIANT 708 708 C -> R (in dbSNP:rs1628172). FT {ECO:0000244|PubMed:18669648, FT ECO:0000269|PubMed:15489334, FT ECO:0000269|PubMed:17974005, FT ECO:0000269|PubMed:9455484}. FT /FTId=VAR_051209. FT VARIANT 1013 1013 F -> I (in dbSNP:rs1698624). FT {ECO:0000269|PubMed:17974005}. FT /FTId=VAR_051210. FT VARIANT 1066 1066 A -> T (in dbSNP:rs1698647). FT {ECO:0000269|PubMed:17974005}. FT /FTId=VAR_051211. FT VARIANT 1359 1359 K -> E (in dbSNP:rs1747958). FT {ECO:0000269|PubMed:17974005}. FT /FTId=VAR_051212. FT VARIANT 1736 1736 V -> E (in dbSNP:rs1778159). FT {ECO:0000269|PubMed:17974005}. FT /FTId=VAR_051213. FT VARIANT 1742 1742 A -> S (in dbSNP:rs1698605). FT {ECO:0000269|PubMed:17974005}. FT /FTId=VAR_051214. FT CONFLICT 33 33 M -> T (in Ref. 4; CAD89923). FT {ECO:0000305}. FT CONFLICT 98 98 T -> M (in Ref. 1; BAB17761/BAB17762). FT {ECO:0000305}. FT CONFLICT 109 109 I -> M (in Ref. 1; BAB17759/BAB17760/ FT BAB17761/BAB17762 and 6; AAH25406/ FT AAI10295). {ECO:0000305}. FT CONFLICT 401 401 R -> Q (in Ref. 4; CAD91152). FT {ECO:0000305}. FT CONFLICT 643 643 M -> V (in Ref. 4; CAD91152). FT {ECO:0000305}. FT CONFLICT 776 776 L -> P (in Ref. 4; CAD91152). FT {ECO:0000305}. FT CONFLICT 783 783 M -> I (in Ref. 4; CAD38529 and 6; FT AAI32718). {ECO:0000305}. FT CONFLICT 830 830 L -> P (in Ref. 4; CAD91152). FT {ECO:0000305}. FT CONFLICT 863 863 L -> P (in Ref. 4; CAD38529). FT {ECO:0000305}. FT CONFLICT 1266 1266 K -> E (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 1286 1286 E -> G (in Ref. 4; CAD91152). FT {ECO:0000305}. FT CONFLICT 1356 1356 K -> R (in Ref. 4; CAD91152). FT {ECO:0000305}. FT CONFLICT 1396 1396 W -> R (in Ref. 2; BAA32299 and 4; FT CAD91152/CAH18128). {ECO:0000305}. FT CONFLICT 1397 1397 K -> E (in Ref. 4; CAD91152). FT {ECO:0000305}. FT CONFLICT 1454 1454 K -> E (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 1504 1504 R -> Q (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 1598 1598 H -> R (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 1610 1610 T -> P (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 1727 1727 L -> P (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 1757 1757 A -> T (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 1867 1867 R -> C (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 1910 1910 D -> E (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 2001 2001 E -> G (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 2088 2088 Missing (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 2291 2291 R -> Q (in Ref. 4; CAH18128). FT {ECO:0000305}. FT CONFLICT 2317 2317 Q -> R (in Ref. 4; CAH18128). FT {ECO:0000305}. SQ SEQUENCE 2346 AA; 265080 MW; 6A3F3A12F959F799 CRC64; MSNGYRTLSQ HLNDLKKENF SLKLRIYFLE ERMQQKYEAS REDIYKRNIE LKVEVESLKR ELQDKKQHLD KTWADVENLN SQNEAELRRQ FEERQQETEH VYELLENKIQ LLQEESRLAK NEAARMAALV EAEKECNLEL SEKLKGVTKN WEDVPGDQVK PDQYTEALAQ RDKRIEELNQ SLAAQERLVE QLSREKQQLL HLLEEPTSME VQPMTEELLK QQKLNSHETT ITQQSVSDSH LAELQEKIQQ TEATNKILQE KLNEMSYELK CAQESSQKQD GTIQNLKETL KSRERETEEL YQVIEGQNDT MAKLREMLHQ SQLGQLHSSE GTSPAQQQVA LLDLQSALFC SQLEIQKLQR VVRQKERQLA DAKQCVQFVE AAAHESEQQK EASWKHNQEL RKALQQLQEE LQNKSQQLRA WEAEKYNEIR TQEQNIQHLN HSLSHKEQLL QEFRELLQYR DNSDKTLEAN EMLLEKLRQR IHDKAVALER AIDEKFSALE EKEKELRQLR LAVRERDHDL ERLRDVLSSN EATMQSMESL LRAKGLEVEQ LSTTCQNLQW LKEEMETKFS RWQKEQESII QQLQTSLHDR NKEVEDLSAT LLCKLGPGQS EIAEELCQRL QRKERMLQDL LSDRNKQVLE HEMEIQGLLQ SVSTREQESQ AAAEKLVQAL MERNSELQAL RQYLGGRDSL MSQAPISNQQ AEVTPTGCLG KQTDQGSMQI PSRDDSTSLT AKEDVSIPRS TLGDLDTVAG LEKELSNAKE ELELMAKKER ESQMELSALQ SMMAVQEEEL QVQAADMESL TRNIQIKEDL IKDLQMQLVD PEDIPAMERL TQEVLLLREK VASVESQGQE ISGNRRQQLL LMLEGLVDER SRLNEALQAE RQLYSSLVKF HAHPESSERD RTLQVELEGA QVLRSRLEEV LGRSLERLNR LETLAAIGGA AAGDDTEDTS TEFTDSIEEE AAHHSHQQLV KVALEKSLAT VETQNPSFSP PSPMGGDSNR CLQEEMLHLR AEFHQHLEEK RKAEEELKEL KAQIEEAGFS SVSHIRNTML SLCLENAELK EQMGEAMSDG WEIEEDKEKG EVMVETVVTK EGLSESSLQA EFRKLQGKLK NAHNIINLLK EQLVLSSKEG NSKLTPELLV HLTSTIERIN TELVGSPGKH QHQEEGNVTV RPFPRPQSLD LGATFTVDAH QLDNQSQPRD PGPQSAFSLP GSTQHLRSQL SQCKQRYQDL QEKLLLSEAT VFAQANELEK YRVMLTGESL VKQDSKQIQV DLQDLGYETC GRSENEAERE ETTSPECEEH NSLKEMVLME GLCSEQGRRG STLASSSERK PLENQLGKQE EFRVYGKSEN ILVLRKDIKD LKAQLQNANK VIQNLKSRVR SLSVTSDYSS SLERPWKLRA VGTLEGSSPH SVPDEDEGWL SDGTGAFYSP GLQAKKDLES LIQRVSQLEA QLPKNGLEEK LAEELRSASW PGKYDSLIQD QARELSYLRQ KIREGRGICY LITRHAKDTV KSFEDLLRSN DIDYYLGQSF REQLAQGSQL TERLTSKLST KDHKSEKDQA GLEPLALRLS RELQEKEKVI EVLQAKLDAR SLTPSSSHAL SDSHRSPSST SFLSDELEAC SDMDIVSEYT HYEEKKASPS HSDSIHHSSH SAVLSSKPSS TSASQGAKAE SNSNPISLPT PQNTPKEANQ AHSGFHFHSI PKLASLPQAP LPSAPSSFLP FSPTGPLLLG CCETPVVSLA EAQQELQMLQ KQLGESASTV PPASTATLLS NDLEADSSYY LNSAQPHSPP RGTIELGRIL EPGYLGSSGK WDVMRPQKGS VSGDLSSGSS VYQLNSKPTG ADLLEEHLGE IRNLRQRLEE SICINDRLRE QLEHRLTSTA RGRGSTSNFY SQGLESIPQL CNENRVLRED NRRLQAQLSH VSREHSQETE SLREALLSSR SHLQELEKEL EHQKVERQQL LEDLREKQQE VLHFREERLS LQENDSRLQH KLVLLQQQCE EKQQLFESLQ SELQIYEALY GNSKKGLKAY SLDACHQIPL SSDLSHLVAE VRALRGQLEQ SIQGNNCLRL QLQQQLESGA GKASLSPSSI NQNFPASTDP GNKQLLLQDS AVSPPVRDVG MNSPALVFPS SASSTPGSET PIINRANGLG LDTSPVMKTP PKLEGDATDG SFANKHGRHV IGHIDDYSAL RQQIAEGKLL VKKIVSLVRS ACSFPGLEAQ GTEVLGSKGI HELRSSTSAL HHALEESASL LTMFWRAALP STHIPVLPGK VGESTERELL ELRTKVSKQE RLLQSTTEHL KNANQQKESM EQFIVSQLTR THDVLKKART NLEVKSLRAL PCTPAL //