• Gene id: 11155

Gene Summary

• Gene Symbol: LDB3   Gene   UCSC   Ensembl
• Aliases: CMD1C, CMH24, CMPD3, CYPHER, LDB3Z1, LDB3Z4, LVNC3, MFM4, ORACLE, PDLIM6, ZASP
• Gene name: LIM domain binding 3
• Alternate names: LIM domain-binding protein 3, PDZ and LIM domain 6, Z-band alternatively spliced PDZ-motif protein, cardiomyopathy, dilated 1C (autosomal dominant), protein cypher,
• Gene location: 10q23.2 (86666787: 86736071)     Exons: 18     NC_000010.11
• Gene summary(Entrez): This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins
• OMIM: 147559

Protein Summary

• Protein general information: O75112  
  • Name: LIM domain binding protein 3 (Protein cypher) (Z band alternatively spliced PDZ motif protein)
  • Length: 727  
  • Mass: 77135
  • Tissue specificity: Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta. {ECO
• Sequence:

  MSYSVTLTGPGPWGFRLQGGKDFNMPLTISRITPGSKAAQSQLSQGDLVVAIDGVNTDTMTHLEAQNKIKSASYN
  LSLTLQKSKRPIPISTTAPPVQTPLPVIPHQKDPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPS
  AFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGV
  GLPGGSLPIKDLAVDSASPVYQAVIKSQNKPEDEADEWARRSSNLQSRSFRILAQMTGTEFMQDPDEEALRRSST
  PIEHAPVCTSQATTPLLPASAQPPAAASPSAASPPLATAAAHTAIASASTTAPASSPADSPRPQASSYSPAVAAS
  SAPATHTSYSEGPAAPAPKPRVVTTASIRPSVYQPVPASTYSPSPGANYSPTPYTPSPAPAYTPSPAPAYTPSPV
  PTYTPSPAPAYTPSPAPNYNPAPSVAYSGGPAEPASRPPWVTDDSFSQKFAPGKSTTSISKQTLPRGGPAYTPAG
  PQVPPLARGTVQRAERFPASSRTPLCGHCNNVIRGPFLVAMGRSWHPEEFTCAYCKTSLADVCFVEEQNNVYCER
  CYEQFFAPLCAKCNTKIMGEVMHALRQTWHTTCFVCAACKKPFGNSLFHMEDGEPYCEKDYINLFSTKCHGCDFP
  VEAGDKFIEALGHTWHDTCFICAVCHVNLEGQPFYSKKDRPLCKKHAHTINL

• Structural information:
  • Protein Domains: (1..8-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (549..60-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (608..66-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-P-)
  • Interpro: IPR031847  IPR001478  IPR036034  IPR006643  IPR001781  
  • Prosite: PS00478 PS50023 PS50106
  • PDB: 1RGW 4YDP
  • PDBsum: 1RGW 4YDP
• Other Databases: GeneCards:  LDB3  Malacards:  LDB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IBA	molecular function
GO:0005912	adherens junction	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0001725	stress fiber	IBA	cellular component
GO:0007507	heart development	IBA	biological process
GO:0030018	Z disc	IBA	cellular component
GO:0031941	filamentous actin	IBA	cellular component
GO:0051371	muscle alpha-actinin binding	IBA	molecular function
GO:0061061	muscle structure development	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030018	Z disc	IDA	cellular component
GO:0005080	protein kinase C binding	IEA	molecular function
GO:0051371	muscle alpha-actinin binding	IEA	molecular function
GO:0045214	sarcomere organization	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0031143	pseudopodium	IEA	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:0008092	cytoskeletal 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	IBA	molecular function
GO:0005912	adherens junction	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0001725	stress fiber	IBA	cellular component
GO:0007507	heart development	IBA	biological process
GO:0030018	Z disc	IBA	cellular component
GO:0031941	filamentous actin	IBA	cellular component
GO:0051371	muscle alpha-actinin binding	IBA	molecular function
GO:0061061	muscle structure development	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030018	Z disc	IDA	cellular component
GO:0005080	protein kinase C binding	IEA	molecular function
GO:0051371	muscle alpha-actinin binding	IEA	molecular function
GO:0045214	sarcomere organization	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0031143	pseudopodium	IEA	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:0008092	cytoskeletal 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

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Myofibrillar myopathies	KEGG:H00595
Left ventricular noncompaction	KEGG:H01216
Dilated cardiomyopathy	KEGG:H00294
Myofibrillar myopathies	KEGG:H00595
Left ventricular noncompaction	KEGG:H01216
Distal myopathy	PMID:17337483
Myotonic dystrophy type 1	PMID:24878509
Cardiomyopathy	PMID:14660611
Cardiomyopathy	PMID:20852297
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R