Seroatlas · Human Serome Atlas

PDE4DIP

Myomegalin

Also known as: CMYA2, KIAA0454, KIAA0477, MMGL, MYOME_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5VU43
Gene: PDE4DIP
Ensembl: ENSG00000178104
Chromosome: 1
Canonical length: 2346 aa
Protein class: Cancer-related genes, Disease related genes, Predicted intracellular proteins
Subcellular location: Golgi apparatus

OverviewNCBI Gene

The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

Canonical amino-acid sequenceUniProt

2346 residues, UniProt reviewed canonical sequence.

>Q5VU43|PDE4DIP
     1  MSNGYRTLSQ HLNDLKKENF SLKLRIYFLE ERMQQKYEAS REDIYKRNIE LKVEVESLKR
    61  ELQDKKQHLD KTWADVENLN SQNEAELRRQ FEERQQETEH VYELLENKIQ LLQEESRLAK
   121  NEAARMAALV EAEKECNLEL SEKLKGVTKN WEDVPGDQVK PDQYTEALAQ RDKRIEELNQ
   181  SLAAQERLVE QLSREKQQLL HLLEEPTSME VQPMTEELLK QQKLNSHETT ITQQSVSDSH
   241  LAELQEKIQQ TEATNKILQE KLNEMSYELK CAQESSQKQD GTIQNLKETL KSRERETEEL
   301  YQVIEGQNDT MAKLREMLHQ SQLGQLHSSE GTSPAQQQVA LLDLQSALFC SQLEIQKLQR
   361  VVRQKERQLA DAKQCVQFVE AAAHESEQQK EASWKHNQEL RKALQQLQEE LQNKSQQLRA
   421  WEAEKYNEIR TQEQNIQHLN HSLSHKEQLL QEFRELLQYR DNSDKTLEAN EMLLEKLRQR
   481  IHDKAVALER AIDEKFSALE EKEKELRQLR LAVRERDHDL ERLRDVLSSN EATMQSMESL
   541  LRAKGLEVEQ LSTTCQNLQW LKEEMETKFS RWQKEQESII QQLQTSLHDR NKEVEDLSAT
   601  LLCKLGPGQS EIAEELCQRL QRKERMLQDL LSDRNKQVLE HEMEIQGLLQ SVSTREQESQ
   661  AAAEKLVQAL MERNSELQAL RQYLGGRDSL MSQAPISNQQ AEVTPTGRLG KQTDQGSMQI
   721  PSRDDSTSLT AKEDVSIPRS TLGDLDTVAG LEKELSNAKE ELELMAKKER ESQMELSALQ
   781  SMMAVQEEEL QVQAADMESL TRNIQIKEDL IKDLQMQLVD PEDIPAMERL TQEVLLLREK
   841  VASVESQGQE ISGNRRQQLL LMLEGLVDER SRLNEALQAE RQLYSSLVKF HAHPESSERD
   901  RTLQVELEGA QVLRSRLEEV LGRSLERLNR LETLAAIGGA AAGDDTEDTS TEFTDSIEEE
   961  AAHHSHQQLV KVALEKSLAT VETQNPSFSP PSPMGGDSNR CLQEEMLHLR AEFHQHLEEK
  1021  RKAEEELKEL KAQIEEAGFS SVSHIRNTML SLCLENAELK EQMGEAMSDG WEIEEDKEKG
  1081  EVMVETVVTK EGLSESSLQA EFRKLQGKLK NAHNIINLLK EQLVLSSKEG NSKLTPELLV
  1141  HLTSTIERIN TELVGSPGKH QHQEEGNVTV RPFPRPQSLD LGATFTVDAH QLDNQSQPRD
  1201  PGPQSAFSLP GSTQHLRSQL SQCKQRYQDL QEKLLLSEAT VFAQANELEK YRVMLTGESL
  1261  VKQDSKQIQV DLQDLGYETC GRSENEAERE ETTSPECEEH NSLKEMVLME GLCSEQGRRG
  1321  STLASSSERK PLENQLGKQE EFRVYGKSEN ILVLRKDIKD LKAQLQNANK VIQNLKSRVR
  1381  SLSVTSDYSS SLERPRKLRA VGTLEGSSPH SVPDEDEGWL SDGTGAFYSP GLQAKKDLES
  1441  LIQRVSQLEA QLPKNGLEEK LAEELRSASW PGKYDSLIQD QARELSYLRQ KIREGRGICY
  1501  LITRHAKDTV KSFEDLLRSN DIDYYLGQSF REQLAQGSQL TERLTSKLST KDHKSEKDQA
  1561  GLEPLALRLS RELQEKEKVI EVLQAKLDAR SLTPSSSHAL SDSHRSPSST SFLSDELEAC
  1621  SDMDIVSEYT HYEEKKASPS HSDSIHHSSH SAVLSSKPSS TSASQGAKAE SNSNPISLPT
  1681  PQNTPKEANQ AHSGFHFHSI PKLASLPQAP LPSAPSSFLP FSPTGPLLLG CCETPVVSLA
  1741  EAQQELQMLQ KQLGESASTV PPASTATLLS NDLEADSSYY LNSAQPHSPP RGTIELGRIL
  1801  EPGYLGSSGK WDVMRPQKGS VSGDLSSGSS VYQLNSKPTG ADLLEEHLGE IRNLRQRLEE
  1861  SICINDRLRE QLEHRLTSTA RGRGSTSNFY SQGLESIPQL CNENRVLRED NRRLQAQLSH
  1921  VSREHSQETE SLREALLSSR SHLQELEKEL EHQKVERQQL LEDLREKQQE VLHFREERLS
  1981  LQENDSRLQH KLVLLQQQCE EKQQLFESLQ SELQIYEALY GNSKKGLKAY SLDACHQIPL
  2041  SSDLSHLVAE VRALRGQLEQ SIQGNNCLRL QLQQQLESGA GKASLSPSSI NQNFPASTDP
  2101  GNKQLLLQDS AVSPPVRDVG MNSPALVFPS SASSTPGSET PIINRANGLG LDTSPVMKTP
  2161  PKLEGDATDG SFANKHGRHV IGHIDDYSAL RQQIAEGKLL VKKIVSLVRS ACSFPGLEAQ
  2221  GTEVLGSKGI HELRSSTSAL HHALEESASL LTMFWRAALP STHIPVLPGK VGESTERELL
  2281  ELRTKVSKQE RLLQSTTEHL KNANQQKESM EQFIVSQLTR THDVLKKART NLEVKSLRAL
  2341  PCTPAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PDE4DIP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.54
Highest tissue expression: 1,935 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 1,935 nTPM
tongue: 1,153 nTPM
heart muscle: 687 nTPM
retina: 154 nTPM
cerebral cortex: 87 nTPM
parathyroid gland: 79 nTPM

Single-cell type

myonuclei: 1,538 nCPM
cardiomyocytes: 1,133 nCPM
podocytes: 1,129 nCPM
thymic myoid cells: 594 nCPM
loop of henle epithelial cells: 305 nCPM
renal collecting duct principal cells: 251 nCPM

Immune cell

T-reg: 14 nTPM
memory B-cell: 12 nTPM
naive B-cell: 11 nTPM
basophil: 11 nTPM
memory CD4 T-cell: 11 nTPM
naive CD4 T-cell: 8.2 nTPM

Brain region

cerebellum: 434 nTPM
thalamus: 424 nTPM
hypothalamus: 392 nTPM
white matter: 375 nTPM
medulla oblongata: 372 nTPM
hippocampal formation: 370 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PDE4DIP.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 149 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.82
gnomAD pLI: 0
gnomAD missense Z: -1.4
DepMap mean gene effect: -0.44
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Olduvai domain
Centrosomin, N-terminal motif 1
CDK5 regulatory subunit-associated protein 2/Myomegalin, coiled coil
Olduvai domain
Centrosomin N-terminal motif 1
CDK5 regulatory subunit-associated protein 2-like, coiled coil
Microtubule-associated AKAP9-binding protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PDE4DIP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PDE4DIP as an antibody target. Whether an autoantibody or antibody against PDE4DIP could matter depends on whether native PDE4DIP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PDE4DIP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PDE4DIP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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