• Gene id: 27295

Gene Summary

• Gene Symbol: PDLIM3   Gene   UCSC   Ensembl
• Aliases: ALP
• Gene name: PDZ and LIM domain 3
• Alternate names: PDZ and LIM domain protein 3, alpha-actinin-2-associated LIM protein, enigma homolog,
• Gene location: 4q35.1 (185535557: 185500659)     Exons: 9     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to coloca
• OMIM: 607744

Protein Summary

• Protein general information: Q53GG5  
  • Name: PDZ and LIM domain protein 3 (Actinin associated LIM protein) (Alpha actinin 2 associated LIM protein)
  • Length: 364  
  • Mass: 39232
  • Tissue specificity: Isoform 1 is highly expressed in differentiated skeletal muscle. Isoform 2 is heart-specific. {ECO
• Sequence:

  MPQTVILPGPAPWGFRLSGGIDFNQPLVITRITPGSKAAAANLCPGDVILAIDGFGTESMTHADAQDRIKAAAHQ
  LCLKIDRGETHLWSPQVSEDGKAHPFKINLESEPQDGNYFEHKHNIRPKPFVIPGRSSGCSTPSGIDCGSGRSTP
  SSVSTVSTICPGDLKVAAKLAPNIPLEMELPGVKIVHAQFNTPMQLYSDDNIMETLQGQVSTALGETPLMSEPTA
  SVPPESDVYRMLHDNRNEPTQPRQSGSFRVLQGMVDDGSDDRPAGTRSVRAPVTKVHGGSGGAQRMPLCDKCGSG
  IVGAVVKARDKYRHPECFVCADCNLNLKQKGYFFIEGELYCETHARARTKPPEGYDTVTLYPKA

• Structural information:
  • Protein Domains: (1..8-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (292..35-)
    (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125"-)
  • Interpro: IPR031847  IPR001478  IPR036034  IPR006643  IPR001781  
  • Prosite: PS00478 PS50023 PS50106
  • STRING: ENSP00000284770
• Other Databases: GeneCards:  PDLIM3  Malacards:  PDLIM3

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0030036	actin cytoskeleton organization	IBA	biological process
GO:0005912	adherens junction	IBA	cellular component
GO:0003779	actin binding	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	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:0015629	actin cytoskeleton	IEA	cellular component
GO:0008307	structural constituent of muscle	IEA	molecular function
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0007015	actin filament organization	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881