• Gene id: 10611

Gene Summary

• Gene Symbol: PDLIM5   Gene   UCSC   Ensembl
• Aliases: ENH, ENH1, L9, LIM
• Gene name: PDZ and LIM domain 5
• Alternate names: PDZ and LIM domain protein 5, enigma homolog, enigma-like LIM domain protein, enigma-like PDZ and LIM domains protein,
• Gene location: 4q22.3 (94451856: 94668226)     Exons: 21     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 605904

Protein Summary

• Protein general information: Q96HC4  
  • Name: PDZ and LIM domain protein 5 (Enigma homolog) (Enigma like PDZ and LIM domains protein)
  • Length: 596  
  • Mass: 63945
  • Tissue specificity: Heart and skeletal muscle specific. Expression is commonly increased in the brain of patients with bipolar disorder, schizophrenia, and major depression. {ECO
• Sequence:

  MSNYSVSLVGPAPWGFRLQGGKDFNMPLTISSLKDGGKAAQANVRIGDVVLSIDGINAQGMTHLEAQNKIKGCTG
  SLNMTLQRASAAPKPEPVPVQKGEPKEVVKPVPITSPAVSKVTSTNNMAYNKAPRPFGSVSSPKVTSIPSPSSAF
  TPAHATTSSHASPSPVAAVTPPLFAASGLHANANLSADQSPSALSAGKTAVNVPRQPTVTSVCSETSQELAEGQR
  RGSQGDSKQQNGPPRKHIVERYTEFYHVPTHSDASKKRLIEDTEDWRPRTGTTQSRSFRILAQITGTEHLKESEA
  DNTKKANNSQEPSPQLASSVASTRSMPESLDSPTSGRPGVTSLTAAAAFKPVGSTGVIKSPSWQRPNQGVPSTGR
  ISNSATYSGSVAPANSALGQTQPSDQDTLVQRAEHIPAGKRTPMCAHCNQVIRGPFLVALGKSWHPEEFNCAHCK
  NTMAYIGFVEEKGALYCELCYEKFFAPECGRCQRKILGEVISALKQTWHVSCFVCVACGKPIRNNVFHLEDGEPY
  CETDYYALFGTICHGCEFPIEAGDMFLEALGYTWHDTCFVCSVCCESLEGQTFFSKKDKPLCKKHAHSVNF

• Structural information:
  • Protein Domains: (2..8-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (418..47-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (477..53-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-P-)
  • Interpro: IPR031847  IPR001478  IPR036034  IPR001781  
  • Prosite: PS00478 PS50023 PS50106
  • PDB: 2DAR 2UZC
  • PDBsum: 2DAR 2UZC
  • DIP: 34898
  • STRING: ENSP00000480359
• Other Databases: GeneCards:  PDLIM5  Malacards:  PDLIM5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0005912	adherens junction	IBA	cellular component
GO:0003779	actin binding	IBA	molecular function
GO:0061061	muscle structure development	IBA	biological process
GO:0051371	muscle alpha-actinin binding	IBA	molecular function
GO:0031941	filamentous actin	IBA	cellular component
GO:0030018	Z disc	IBA	cellular component
GO:0007507	heart development	IBA	biological process
GO:0001725	stress fiber	IBA	cellular component
GO:0051963	regulation of synapse assembly	ISS	biological process
GO:0061001	regulation of dendritic spine morphogenesis	ISS	biological process
GO:0014069	postsynaptic density	ISS	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005080	protein kinase C binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0042805	actinin binding	IEA	molecular function
GO:0051963	regulation of synapse assembly	IEA	biological process
GO:0061049	cell growth involved in cardiac muscle cell development	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0061001	regulation of dendritic spine morphogenesis	IEA	biological process
GO:0061049	cell growth involved in cardiac muscle cell development	ISS	biological process
GO:0098641	cadherin binding involved in cell-cell adhesion	HDA	molecular function
GO:0005912	adherens junction	HDA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0016020	membrane	ISS	cellular component
GO:0042805	actinin binding	ISS	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0005080	protein kinase C binding	ISS	molecular function
GO:0003779	actin binding	ISS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881