• Gene id: 9124

Gene Summary

• Gene Symbol: PDLIM1   Gene   UCSC   Ensembl
• Aliases: CLIM1, CLP-36, CLP36, HEL-S-112, hCLIM1
• Gene name: PDZ and LIM domain 1
• Alternate names: PDZ and LIM domain protein 1, LIM domain protein CLP-36, carboxyl terminal LIM domain protein 1, elfin, epididymis secretory protein Li 112,
• Gene location: 10q23.33 (44051371: 44069901)     Exons: 8     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cy
• OMIM: 605900

Protein Summary

• Protein general information: O00151  
  • Name: PDZ and LIM domain protein 1 (C terminal LIM domain protein 1) (Elfin) (LIM domain protein CLP 36)
  • Length: 329  
  • Mass: 36072
  • Tissue specificity: Strongly expressed in the heart and skeletal muscle, moderately expressed in the spleen, small intestine, colon, placenta, and lung. A lower level expression is seen in liver, thymus, kidney, prostate and pancreas and is not found in t
• Sequence:

  MTTQQIDLQGPGPWGFRLVGGKDFEQPLAISRVTPGSKAALANLCIGDVITAIDGENTSNMTHLEAQNRIKGCTD
  NLTLTVARSEHKVWSPLVTEEGKRHPYKMNLASEPQEVLHIGSAHNRSAMPFTASPASSTTARVITNQYNNPAGL
  YSSENISNFNNALESKTAASGVEANSRPLDHAQPPSSLVIDKESEVYKMLQEKQELNEPPKQSTSFLVLQEILES
  EEKGDPNKPSGFRSVKAPVTKVAASIGNAQKLPMCDKCGTGIVGVFVKLRDRHRHPECYVCTDCGTNLKQKGHFF
  VEDQIYCEKHARERVTPPEGYEVVTVFPK

• Structural information:
  • Protein Domains: (3..8-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (258..31-)
    (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125"-)
  • Interpro: IPR031847  IPR028537  IPR001478  IPR036034  IPR006643   IPR001781  
  • Prosite: PS00478 PS50023 PS50106
  • PDB: 1X62 2PKT
  • PDBsum: 1X62 2PKT
  • STRING: ENSP00000360305
• Other Databases: GeneCards:  PDLIM1  Malacards:  PDLIM1

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:0005856	cytoskeleton	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006979	response to oxidative stress	TAS	biological process
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:0001725	stress fiber	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0030950	establishment or maintenance of actin cytoskeleton polarity	IEA	biological process
GO:0043149	stress fiber assembly	IEA	biological process
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0010761	fibroblast migration	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0030011	maintenance of cell polarity	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0098641	cadherin binding involved in cell-cell adhesion	HDA	molecular function
GO:0005912	adherens junction	HDA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005925	focal adhesion	HDA	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:0003779	actin binding	ISS	molecular function
GO:0043149	stress fiber assembly	ISS	biological process
GO:0001725	stress fiber	IDA	cellular component
GO:0030018	Z disc	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:0010761	fibroblast migration	ISS	biological process
GO:0030011	maintenance of cell polarity	ISS	biological process
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0030950	establishment or maintenance of actin cytoskeleton polarity	ISS	biological process

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881