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Protein

Myomegalin

Gene

PDE4DIP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
Sitei742 – 743Breakpoint for insertion to form PDE4DIP-PDGFRB fusion protein2

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

GO - Biological processi

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

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

HGNCiHGNC:15580. PDE4DIP.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • myofibril Source: UniProtKB
  • 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

DisGeNETi9659.
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

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5VU43.
MaxQBiQ5VU43.
PaxDbiQ5VU43.
PeptideAtlasiQ5VU43.
PRIDEiQ5VU43.

PTM databases

iPTMnetiQ5VU43.

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

BgeeiENSG00000178104.
ExpressionAtlasiQ5VU43. baseline and differential.
GenevisibleiQ5VU43. HS.

Organism-specific databases

HPAiHPA008162.
HPA012678.

Interactioni

Subunit structurei

Interacts with PDE4D.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
Q9H6F03EBI-1105124,EBI-10307481
AENQ8WTP83EBI-1105124,EBI-8637627
Ankrd1Q8R5602EBI-10769071,EBI-10817505From a different organism.
BYSLQ138955EBI-1105124,EBI-358049
C14orf105Q17R993EBI-1105124,EBI-10238351
C1orf109Q9NX043EBI-1105124,EBI-8643161
CHCHD3Q9NX633EBI-1105124,EBI-743375
COMMD4Q9H0A84EBI-10769071,EBI-1550064
Eno1P047642EBI-10769071,EBI-915852From a different organism.
Eno3P154292EBI-10769071,EBI-10817548From a different organism.
FAM161AQ3B8203EBI-1105124,EBI-719941
FAM74A6Q5TZK33EBI-1105124,EBI-10247271
GOLGA8DPQ0D2H93EBI-1105124,EBI-10181276
GOLGA8GQ08AF83EBI-1105124,EBI-10181260
HAUS1Q96CS23EBI-1105124,EBI-2514791
KLC3Q6P5973EBI-1105124,EBI-1643885
LENG1Q96BZ83EBI-1105124,EBI-726510
LMO4P619683EBI-1105124,EBI-2798728
MAPRE1Q156913EBI-1105124,EBI-1004115
MIF4GDA9UHW63EBI-1105124,EBI-373498
MTUS2Q5JR593EBI-1105124,EBI-742948
MYBPC3Q148965EBI-10769071,EBI-704176
NAA10P412273EBI-1105124,EBI-747693
PPP1R18Q6NYC83EBI-1105124,EBI-2557469
Prkar1aP094562EBI-10769071,EBI-916215From a different organism.
Prkar2aP123682EBI-10769071,EBI-919521From a different organism.
PRPF31F1T0A53EBI-1105124,EBI-10177194
RTP5Q14D333EBI-1105124,EBI-10217913
RYDENQ9NUL53EBI-1105124,EBI-10313866
SCNM1Q9BWG63EBI-1105124,EBI-748391
SDCBPO005603EBI-1105124,EBI-727004
SH2D4AQ9H7883EBI-1105124,EBI-747035
SH2D4AQ9H788-23EBI-1105124,EBI-10308083
TNNI3P194294EBI-10769071,EBI-704146
Tnni3P236932EBI-10769071,EBI-10817583From a different organism.
UTP14CQ08E773EBI-1105124,EBI-10225961
ZFYVE21Q9BQ243EBI-1105124,EBI-2849569
ZNF408Q9H9D43EBI-1105124,EBI-347633
ZNF581Q9P0T43EBI-1105124,EBI-745520
ZSCAN26Q166703EBI-1105124,EBI-3920053

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115017. 131 interactors.
DIPiDIP-51263N.
IntActiQ5VU43. 87 interactors.
MINTiMINT-1183984.
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

Sequence similaritiesi

Contains 1 NBPF domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410J2NR. Eukaryota.
ENOG411281S. LUCA.
GeneTreeiENSGT00530000063845.
HOVERGENiHBG108166.
InParanoidiQ5VU43.
KOiK16549.
PhylomeDBiQ5VU43.
TreeFamiTF329233.

Family and domain databases

InterProiIPR012943. Cnn_1N.
IPR010630. NBPF_dom.
[Graphical view]
PfamiPF07989. Cnn_1N. 1 hit.
PF06758. DUF1220. 1 hit.
[Graphical view]
SMARTiSM01148. DUF1220. 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. 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
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 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 conflicti1396W → R in BAA32299 (PubMed:9455484).Curated1
Sequence conflicti1396W → R in CAD91152 (PubMed:17974005).Curated1
Sequence conflicti1396W → R in CAH18128 (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 rs3010980dbSNPEnsembl.1
Natural variantiVAR_03662825R → L.Corresponds to variant rs1664022dbSNPEnsembl.1
Natural variantiVAR_03662949I → T.2 PublicationsCorresponds to variant rs573724dbSNPEnsembl.1
Natural variantiVAR_056951143K → E.Corresponds to variant rs1747958dbSNPEnsembl.1
Natural variantiVAR_056952150N → S.Corresponds to variant rs3010980dbSNPEnsembl.1
Natural variantiVAR_036630167A → T.Corresponds to variant rs2590120dbSNPEnsembl.1
Natural variantiVAR_051204171R → K.Corresponds to variant rs3121544dbSNPEnsembl.1
Natural variantiVAR_051205391E → A.Corresponds to variant rs1324366dbSNPEnsembl.1
Natural variantiVAR_051206410E → V.Corresponds to variant rs17425009dbSNPEnsembl.1
Natural variantiVAR_051207482H → R.Corresponds to variant rs1698681dbSNPEnsembl.1
Natural variantiVAR_051208681R → H.Corresponds to variant rs1629011dbSNPEnsembl.1
Natural variantiVAR_051209708C → R.Combined sources3 PublicationsCorresponds to variant rs1628172dbSNPEnsembl.1
Natural variantiVAR_0512101013F → I.1 PublicationCorresponds to variant rs1698624dbSNPEnsembl.1
Natural variantiVAR_0512111066A → T.1 PublicationCorresponds to variant rs1698647dbSNPEnsembl.1
Natural variantiVAR_0512121359K → E.1 PublicationCorresponds to variant rs1747958dbSNPEnsembl.1
Natural variantiVAR_0512131736V → E.1 PublicationCorresponds to variant rs1778159dbSNPEnsembl.1
Natural variantiVAR_0512141742A → S.1 PublicationCorresponds to variant rs1698605dbSNPEnsembl.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. 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_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.
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]
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.731111.

Genome annotation databases

EnsembliENST00000369347; ENSP00000358353; ENSG00000178104. [Q5VU43-11]
ENST00000530472; ENSP00000482121; ENSG00000178104. [Q5VU43-8]
GeneIDi653513.
9659.
KEGGihsa:9659.
UCSCiuc001emb.3. human. [Q5VU43-1]

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:
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.
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]
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.731111.

3D structure databases

ProteinModelPortaliQ5VU43.
SMRiQ5VU43.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115017. 131 interactors.
DIPiDIP-51263N.
IntActiQ5VU43. 87 interactors.
MINTiMINT-1183984.
STRINGi9606.ENSP00000358363.

PTM databases

iPTMnetiQ5VU43.

Polymorphism and mutation databases

BioMutaiPDE4DIP.
DMDMi74747041.

Proteomic databases

EPDiQ5VU43.
MaxQBiQ5VU43.
PaxDbiQ5VU43.
PeptideAtlasiQ5VU43.
PRIDEiQ5VU43.

Protocols and materials databases

DNASUi9659.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369347; ENSP00000358353; ENSG00000178104. [Q5VU43-11]
ENST00000530472; ENSP00000482121; ENSG00000178104. [Q5VU43-8]
GeneIDi653513.
9659.
KEGGihsa:9659.
UCSCiuc001emb.3. human. [Q5VU43-1]

Organism-specific databases

CTDi9659.
DisGeNETi9659.
GeneCardsiPDE4DIP.
H-InvDBHIX0178151.
HGNCiHGNC:15580. PDE4DIP.
HPAiHPA008162.
HPA012678.
MIMi608117. gene.
neXtProtiNX_Q5VU43.
OpenTargetsiENSG00000178104.
PharmGKBiPA33131.
HUGEiSearch...
Search...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J2NR. Eukaryota.
ENOG411281S. LUCA.
GeneTreeiENSGT00530000063845.
HOVERGENiHBG108166.
InParanoidiQ5VU43.
KOiK16549.
PhylomeDBiQ5VU43.
TreeFamiTF329233.

Enzyme and pathway databases

SIGNORiQ5VU43.

Miscellaneous databases

GeneWikiiMyomegalin.
GenomeRNAii9659.
PROiQ5VU43.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000178104.
ExpressionAtlasiQ5VU43. baseline and differential.
GenevisibleiQ5VU43. HS.

Family and domain databases

InterProiIPR012943. Cnn_1N.
IPR010630. NBPF_dom.
[Graphical view]
PfamiPF07989. Cnn_1N. 1 hit.
PF06758. DUF1220. 1 hit.
[Graphical view]
SMARTiSM01148. DUF1220. 1 hit.
[Graphical view]
PROSITEiPS51316. NBPF. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 120 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.