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PDLIM5 (PDZ and LIM domain 5)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10611
Gene nameGene Name - the full gene name approved by the HGNC.
PDZ and LIM domain 5
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PDLIM5
SynonymsGene synonyms aliases
ENH, ENH1, L9, LIM
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001527 hsa-miR-155-5p pSILAC 18668040
MIRT001527 hsa-miR-155-5p Western blot 20584899
MIRT032035 hsa-miR-16-5p Proteomics 18668040
MIRT051014 hsa-miR-17-5p CLASH 23622248
MIRT401127 hsa-miR-153-5p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IBA 21873635
GO:0003779 Function Actin binding IBA 21873635
GO:0003779 Function Actin binding ISS
GO:0005080 Function Protein kinase C binding ISS
GO:0005515 Function Protein binding IPI 16549780, 25416956, 31515488, 32814053
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q96HC4
Protein name PDZ and LIM domain protein 5 (Enigma homolog) (Enigma-like PDZ and LIM domains protein)
Protein function May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May restrain postsynaptic growth of excitatory synapses (By similarity).
PDB 2DAR , 2UZC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ
4 82
PDZ domain
Domain
PF15936 DUF4749
213 305
Domain of unknown function (DUF4749)
Family
PF00412 LIM
420 475
LIM domain
Domain
PF00412 LIM
479 534
LIM domain
Domain
PF00412 LIM
538 594
LIM domain
Domain
Sequence
MSNYSVSLVGPAPWGFRLQGGKDFNMPLTISSLKDGGKAAQANVRIGDVVLSIDGINAQG
MTHLEAQNKIKGCTGSLNMTLQ
RASAAPKPEPVPVQKGEPKEVVKPVPITSPAVSKVTST
NNMAYNKAPRPFGSVSSPKVTSIPSPSSAFTPAHATTSSHASPSPVAAVTPPLFAASGLH
ANANLSADQSPSALSAGKTAVNVPRQPTVTSVCSETSQELAEGQRRGSQGDSKQQNGPPR
KHIVERYTEFYHVPTHSDASKKRLIEDTEDWRPRTGTTQSRSFRILAQITGTEHLKESEA
DNTKK
ANNSQEPSPQLASSVASTRSMPESLDSPTSGRPGVTSLTAAAAFKPVGSTGVIKS
PSWQRPNQGVPSTGRISNSATYSGSVAPANSALGQTQPSDQDTLVQRAEHIPAGKRTPMC
AHCNQVIRGPFLVALGKSWHPEEFNCAHCKNTMAYIGFVEEKGALYCELCYEKFF
APECG
RCQRKILGEVISALKQTWHVSCFVCVACGKPIRNNVFHLEDGEPYCETDYYALF
GTICHG
CEFPIEAGDMFLEALGYTWHDTCFVCSVCCESLEGQTFFSKKDKPLCKKHAHSV
NF
Sequence length 596
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Cytoskeleton in muscle cells  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 18021463, 16213469, 17287082, 24064681
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778
Prostate cancer Malignant neoplasm of prostate, Prostate carcinoma rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 19767753, 29892016
Lymphoblastic leukemia Precursor Cell Lymphoblastic Leukemia Lymphoma rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs-1, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 27114598
Unknown
Disease name Disease term dbSNP ID References
Mental depression Unipolar Depression, Major Depressive Disorder rs587778876, rs587778877 18197271, 23593136, 16595163, 16044170
Bipolar disorder Bipolar Disorder 24064681, 19448850, 23031404, 23593136, 24554194
Myocardial ischemia Myocardial Ischemia 16214533
Uterine fibroids Uterine Fibroids 31649266

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