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Protein

Myomegalin

Gene

PDE4DIP

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

Functioni

Functions as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes (By similarity).By similarity
Isoform 13: Participates in microtubule dynamics, promoting microtubule assembly. Depending upon the cell context, may act at the level of the Golgi apparatus or that of the centrosome (PubMed:25217626, PubMed:27666745, PubMed:28814570, PubMed:29162697). In complex with AKAP9, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with AKAP9, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension from the centrosome to the cell periphery, a crucial process for directed cell migration, mitotic spindle orientation and cell-cycle progression (PubMed:29162697).4 Publications

Caution

Was initially reported to localize in the cytoplasm and nucleus (PubMed:11374908). However, many reports in different species have shown that it is associated with the Golgi apparatus and the centrosome.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei742 – 743Breakpoint for insertion to form PDE4DIP-PDGFRB fusion protein2

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • protein-containing complex scaffold activity Source: UniProtKB

GO - Biological processi

  • astral microtubule organization Source: UniProtKB
  • cellular protein-containing complex assembly Source: UniProtKB
  • positive regulation of microtubule nucleation Source: UniProtKB
  • regulation of Golgi organization Source: UniProtKB

Enzyme and pathway databases

SIGNORiQ5VU43

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000178104.19
HGNCiHGNC:15580 PDE4DIP
MIMi608117 gene
neXtProtiNX_Q5VU43

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus

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.1 Publication

Organism-specific databases

DisGeNETi653513
9659
OpenTargetsiENSG00000178104
PharmGKBiPA33131

Polymorphism and mutation databases

BioMutaiPDE4DIP
DMDMi74747041

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003076901 – 2346MyomegalinAdd BLAST2346

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei704PhosphothreonineCombined sources1
Isoform 2 (identifier: Q5VU43-2)
Modified residuei252PhosphoserineCombined sources1
Isoform 13 (identifier: Q5VU43-13)
Modified residuei252PhosphoserineCombined sources3 Publications1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5VU43
PaxDbiQ5VU43
PeptideAtlasiQ5VU43
PRIDEiQ5VU43
ProteomicsDBi65374
65375 [Q5VU43-10]
65376 [Q5VU43-11]
65377 [Q5VU43-12]
65378 [Q5VU43-2]
65379 [Q5VU43-3]
65380 [Q5VU43-4]
65381 [Q5VU43-6]
65382 [Q5VU43-7]
65383 [Q5VU43-8]
65384 [Q5VU43-9]

PTM databases

iPTMnetiQ5VU43
PhosphoSitePlusiQ5VU43

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000178104
ExpressionAtlasiQ5VU43 baseline and differential
GenevisibleiQ5VU43 HS

Organism-specific databases

HPAiHPA008162
HPA012678

Interactioni

Subunit structurei

Interacts with PDE4D (By similarity). Isoform 13 interacts with MAPRE1 and MAPRE3 (PubMed:25217626, PubMed:28814570, PubMed:29162697). Isoform 13 forms a pericentrosomal complex with AKAP9, CDK5RAP2 and EB1/MAPRE1; within this complex, may mediate MAPRE1-binding to CDK5RAP2 (PubMed:29162697). Interaction of isoform 13 with AKAP9 stabilizes both proteins (PubMed:25217626, PubMed:27666745). Isoform 13 interacts (via N-terminus) with CAMSAP2; this interaction is much stronger in the presence of AKAP9 (PubMed:27666745). In complex with AKAP9, Isoform 13 recruits CAMSAP2 to the Golgi apparatus (PubMed:27666745, PubMed:28814570). Isoform 13 interacts with unglycosylated LGALS3BP; this interaction may connect the pericentrosomal complex to the gamma-tubulin ring complex (gamma-TuRC) to promote microtubule assembly and acetylation (PubMed:25217626, PubMed:29162697).By similarity4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • protein-containing complex scaffold activity Source: UniProtKB

Protein-protein interaction databases

BioGridi115017, 143 interactors
DIPiDIP-51263N
IntActiQ5VU43, 113 interactors
MINTiQ5VU43
STRINGi9606.ENSP00000358363

Structurei

3D structure databases

ProteinModelPortaliQ5VU43
SMRiQ5VU43
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1551 – 1642NBPFPROSITE-ProRule annotationAdd BLAST92

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili41 – 132Sequence analysisAdd BLAST92
Coiled coili162 – 205Sequence analysisAdd BLAST44
Coiled coili238 – 318Sequence analysisAdd BLAST81
Coiled coili350 – 684Sequence analysisAdd BLAST335
Coiled coili743 – 936Sequence analysisAdd BLAST194
Coiled coili1002 – 1043Sequence analysisAdd BLAST42
Coiled coili1096 – 1124Sequence analysisAdd BLAST29
Coiled coili1212 – 1240Sequence analysisAdd BLAST29
Coiled coili1346 – 1385Sequence analysisAdd BLAST40
Coiled coili1431 – 1455Sequence analysisAdd BLAST25
Coiled coili1736 – 1760Sequence analysisAdd BLAST25
Coiled coili1840 – 2077Sequence analysisAdd BLAST238
Coiled coili2273 – 2312Sequence analysisAdd BLAST40

Domaini

Isoform 13: residues 1-150 are involved in AKAP9-binding.1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410J2NR Eukaryota
ENOG411281S LUCA
GeneTreeiENSGT00530000063845
HOVERGENiHBG108166
InParanoidiQ5VU43
KOiK16549
OMAiYECWSER
PhylomeDBiQ5VU43
TreeFamiTF329233

Family and domain databases

InterProiView protein in InterPro
IPR012943 Cnn_1N
IPR010630 NBPF_dom
PfamiView protein in Pfam
PF07989 Cnn_1N, 1 hit
PF06758 DUF1220, 1 hit
SMARTiView protein in SMART
SM01148 DUF1220, 1 hit
PROSITEiView protein in PROSITE
PS51316 NBPF, 1 hit

Sequences (12)i

Sequence statusi: Complete.

This entry describes 12 isoformsi produced by alternative splicing. AlignAdd to basket

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

        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
AEVTPTGRLG 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 SLERPRKLRA
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):265,103
Last modified:March 28, 2018 - v3
Checksum:i8A29AA1514759B0C
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):128,518
Checksum:i40C7CC8FCA2D77C4
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):254,069
Checksum:i91F0BA4B645E89DD
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):267,200
Checksum:iC47E0094FB787B0D
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):112,285
Checksum:iFCFA6AC1FF598B7A
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):114,207
Checksum:i53A63137BFF77658
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
Isoform 13 (identifier: Q5VU43-13) [UniParc]FASTAAdd to basket
Also known as: Myomegalin variant 81 Publication, MMG2 Publications, MMG81 Publication, Short myomegalin-like EB1 binding protein1 Publication, SMYLE1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-210: MSNGYRTLSQ...HLLEEPTSME → MKEICRICAR...DLCEDYLPLR
     940-953: AAAGDDTEDTSTEF → GELESVRIHHKHAY
     954-2346: Missing.

Note: Mutagenesis at position 311-312:LP->AA (loss of MAPRE1- and MAPRE3-binding and loss of association with microtubule ends, no effect on AKAP9- and CDK5RAP2-binding, relocalizes from EB1/MAPRE1 microtubule ends to centrosomal area).Combined sources3 Publications
Show »
Length:1,116
Mass (Da):126,950
Checksum:i38947C0DFF2C49AD
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti33M → T in CAD89923 (PubMed:17974005).Curated1
Sequence conflicti98T → M in BAB17761 (PubMed:11374908).Curated1
Sequence conflicti98T → M in BAB17762 (PubMed:11374908).Curated1
Sequence conflicti109I → M in BAB17759 (PubMed:11374908).Curated1
Sequence conflicti109I → M in BAB17760 (PubMed:11374908).Curated1
Sequence conflicti109I → M in BAB17761 (PubMed:11374908).Curated1
Sequence conflicti109I → M in BAB17762 (PubMed:11374908).Curated1
Sequence conflicti109I → M in AAH25406 (PubMed:15489334).Curated1
Sequence conflicti109I → M in AAI10295 (PubMed:15489334).Curated1
Sequence conflicti401R → Q in CAD91152 (PubMed:17974005).Curated1
Sequence conflicti643M → V in CAD91152 (PubMed:17974005).Curated1
Sequence conflicti776L → P in CAD91152 (PubMed:17974005).Curated1
Sequence conflicti783M → I in CAD38529 (PubMed:17974005).Curated1
Sequence conflicti783M → I in AAI32718 (PubMed:15489334).Curated1
Sequence conflicti830L → P in CAD91152 (PubMed:17974005).Curated1
Sequence conflicti863L → P in CAD38529 (PubMed:17974005).Curated1
Sequence conflicti1266K → E in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti1286E → G in CAD91152 (PubMed:17974005).Curated1
Sequence conflicti1356K → R in CAD91152 (PubMed:17974005).Curated1
Sequence conflicti1397K → E in CAD91152 (PubMed:17974005).Curated1
Sequence conflicti1454K → E in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti1504R → Q in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti1598H → R in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti1610T → P in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti1727L → P in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti1757A → T in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti1867R → C in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti1910D → E in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti2001E → G in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti2088Missing in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti2291R → Q in CAH18128 (PubMed:17974005).Curated1
Sequence conflicti2317Q → R in CAH18128 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03662713N → S. Corresponds to variant dbSNP:rs3010980Ensembl.1
Natural variantiVAR_03662825R → L. Corresponds to variant dbSNP:rs1664022Ensembl.1
Natural variantiVAR_03662949I → T2 PublicationsCorresponds to variant dbSNP:rs573724Ensembl.1
Natural variantiVAR_056951143K → E. Corresponds to variant dbSNP:rs1747958Ensembl.1
Natural variantiVAR_056952150N → S. Corresponds to variant dbSNP:rs3010980Ensembl.1
Natural variantiVAR_036630167A → T. Corresponds to variant dbSNP:rs2590120Ensembl.1
Natural variantiVAR_051204171R → K. Corresponds to variant dbSNP:rs3121544Ensembl.1
Natural variantiVAR_051205391E → A. Corresponds to variant dbSNP:rs1324366Ensembl.1
Natural variantiVAR_051206410E → V. Corresponds to variant dbSNP:rs1061308Ensembl.1
Natural variantiVAR_051207482H → R. Corresponds to variant dbSNP:rs1698681Ensembl.1
Natural variantiVAR_051208681R → H. Corresponds to variant dbSNP:rs1629011Ensembl.1
Natural variantiVAR_051209708R → C2 PublicationsCorresponds to variant dbSNP:rs1628172Ensembl.1
Natural variantiVAR_0512101013F → I1 PublicationCorresponds to variant dbSNP:rs1698624Ensembl.1
Natural variantiVAR_0512111066A → T1 PublicationCorresponds to variant dbSNP:rs1698647Ensembl.1
Natural variantiVAR_0512121359K → E1 PublicationCorresponds to variant dbSNP:rs1747958Ensembl.1
Natural variantiVAR_0802321396R → W. Corresponds to variant dbSNP:rs2798901Ensembl.1
Natural variantiVAR_0512131736V → E1 PublicationCorresponds to variant dbSNP:rs1778159Ensembl.1
Natural variantiVAR_0512141742A → S1 PublicationCorresponds to variant dbSNP:rs1698605Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0287721 – 210MSNGY…PTSME → MKEICRICARELCGNQRRWI FHTASKLNLQVLLSHVLGKD VPRDGKAEFACSKCAFMLDR IYRFDTVIARIEALSIERLQ KLLLEKDRLKFCIASMYRKN NDDSGAEIKAGNGTVDMSVL PDARYSALLQEDFAYSGFEC WVENEDQIQEPHSCHGSEGP GNRPRRCRGCAALRVADSDY EAICKVPRKVARSISCGPSS RWSTSICTEEPALSEVGPPD LASTKVPPDGESMEEETPGS SVESLDASVQASPPQQKDEE TERSAKELGKCDCCSDDQAP QHGCNHKLELALSMIKGLDY KPIQSPRGSRLPIPVKSSLP GAKPGPSMTDGVSSGFLNRS LKPLYKTPVSYPLELSDLQE LWDDLCEDYLPLR in isoform 2 and isoform 13. 2 PublicationsAdd BLAST210
Alternative sequenceiVSP_0287731 – 10MSNGYRTLSQ → MEQTWTRDYFAEDDGEMVPR TSHTAAFLSDTKDRGPPVQS QIWRSGEKVPFVQTYSLRAF EKPPQVQTQALRDFEK in isoform 3 and isoform 12. 2 Publications10
Alternative sequenceiVSP_0287741 – 10MSNGYRTLSQ → MKGTDSGSCCRRRCDFGCCC RASRRAHYTPYRSGDATRTP QSPRQTPSRERRRPEPAGSW AAAAEEEEAAAAATPWMRDY FAEDDGEMVPRTSHTAAFLS DTKDRGPPVQSQIWRSGEKV PFVQTYSLRAFEKPPQVQTQ ALRDFEK in isoform 8 and isoform 9. 1 Publication10
Alternative sequenceiVSP_028775174 – 2346Missing in isoform 8 and isoform 11. 2 PublicationsAdd BLAST2173
Alternative sequenceiVSP_028776174R → I in isoform 9, isoform 10 and isoform 12. 2 Publications1
Alternative sequenceiVSP_028777175 – 2346Missing in isoform 9, isoform 10 and isoform 12. 2 PublicationsAdd BLAST2172
Alternative sequenceiVSP_059333940 – 953AAAGD…TSTEF → GELESVRIHHKHAY in isoform 13. Add BLAST14
Alternative sequenceiVSP_059334954 – 2346Missing in isoform 13. Add BLAST1393
Alternative sequenceiVSP_028778968 – 988QLVKV…QNPSF → QVSQCQGLGLPGWTAHSPSE V in isoform 7. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_028779970 – 2346Missing in isoform 2 and isoform 6. 3 PublicationsAdd BLAST1377
Alternative sequenceiVSP_028780989 – 2346Missing in isoform 7. 1 PublicationAdd BLAST1358
Alternative sequenceiVSP_0287811082 – 1191Missing in isoform 3. 1 PublicationAdd BLAST110
Alternative sequenceiVSP_0287821695 – 1756Missing in isoform 3. 1 PublicationAdd BLAST62
Alternative sequenceiVSP_0287832334 – 2346VKSLR…CTPAL → EPCKKRSHQKSLKQQERWAC PPFVQLPIC in isoform 4. 1 PublicationAdd BLAST13

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
HQ333476 mRNA Translation: ADO32613.1
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
AC239802 Genomic DNA No translation available.
AC245389 Genomic DNA No translation available.
AC239804 Genomic DNA No translation available.
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 [Q5VU43-2]
NP_001002812.2, NM_001002812.2 [Q5VU43-6]
NP_001182189.1, NM_001195260.1
NP_001182190.1, NM_001195261.1
NP_001185761.2, NM_001198832.2 [Q5VU43-3]
NP_001185763.3, NM_001198834.3 [Q5VU43-4]
NP_055459.5, NM_014644.5 [Q5VU43-1]
NP_071754.3, NM_022359.5 [Q5VU43-8]
XP_016855361.1, XM_016999872.1
XP_016855362.1, XM_016999873.1
XP_016858514.1, XM_017003025.1
XP_016858515.1, XM_017003026.1
UniGeneiHs.584841
Hs.632434
Hs.657490
Hs.682380
Hs.721759
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]
ENST00000529945; ENSP00000433392; ENSG00000178104 [Q5VU43-13]
ENST00000530472; ENSP00000482121; ENSG00000178104 [Q5VU43-8]
ENST00000618462; ENSP00000479409; ENSG00000178104 [Q5VU43-3]
GeneIDi653513
9659
KEGGihsa:653513
hsa:9659
UCSCiuc001emb.3 human [Q5VU43-1]
uc057kja.1 human

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMYOME_HUMAN
AccessioniPrimary (citable) accession number: Q5VU43
Secondary accession number(s): A0A0A0MRM0
, A0A0C4DFQ0, A2RU15, E9PL24, O75042, O75065, Q2YDC1, Q5VU42, Q5VU44, Q5VU45, Q5VU46, Q5VU47, Q5VU48, Q5VU49, Q68DU2, Q6AZ93, Q6PK88, Q86T40, Q86TB2, Q8N3W0, Q8TAY9, Q9HCP2, Q9HCP3, Q9HCP4, Q9HCP5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: March 28, 2018
Last modified: July 18, 2018
This is version 134 of the entry and version 3 of the sequence. See 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

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