• Gene id: 51474

Gene Summary

• Gene Symbol: LIMA1   Gene   UCSC   Ensembl
• Aliases: EPLIN, LDLCQ8, SREBP3
• Gene name: LIM domain and actin binding 1
• Alternate names: LIM domain and actin-binding protein 1, 1110021C24Rik, epithelial protein lost in neoplasm beta, sterol regulatory element binding protein 3,
• Gene location: 12q13.12 (50283519: 50175779)     Exons: 12     NC_000012.12
• Gene summary(Entrez): This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms ha
• OMIM: 608364

Protein Summary

• Protein general information: Q9UHB6  
  • Name: LIM domain and actin binding protein 1 (Epithelial protein lost in neoplasm)
  • Length: 759  
  • Mass: 85226
  • Tissue specificity: Highly expressed in placenta, kidney, pancreas, prostate, ovary, spleen and heart. Also detected in lung, liver, brain, skeletal muscle, thymus, testis and intestine. Not detected in leukocytes. Isoform Beta expressed generally at very
• Sequence:

  MESSPFNRRQWTSLSLRVTAKELSLVNKNKSSAIVEIFSKYQKAAEETNMEKKRSNTENLSQHFRKGTLTVLKKK
  WENPGLGAESHTDSLRNSSTEIRHRADHPPAEVTSHAASGAKADQEEQIHPRSRLRSPPEALVQGRYPHIKDGED
  LKDHSTESKKMENCLGESRHEVEKSEISENTDASGKIEKYNVPLNRLKMMFEKGEPTQTKILRAQSRSASGRKIS
  ENSYSLDDLEIGPGQLSSSTFDSEKNESRRNLELPRLSETSIKDRMAKYQAAVSKQSSSTNYTNELKASGGEIKI
  HKMEQKENVPPGPEVCITHQEGEKISANENSLAVRSTPAEDDSRDSQVKSEVQQPVHPKPLSPDSRASSLSESSP
  PKAMKKFQAPARETCVECQKTVYPMERLLANQQVFHISCFRCSYCNNKLSLGTYASLHGRIYCKPHFNQLFKSKG
  NYDEGFGHRPHKDLWASKNENEEILERPAQLANARETPHSPGVEDAPIAKVGVLAASMEAKASSQQEKEDKPAET
  KKLRIAWPPPTELGSSGSALEEGIKMSKPKWPPEDEISKPEVPEDVDLDLKKLRRSSSLKERSRPFTVAASFQST
  SVKSPKTVSPPIRKGWSMSEQSEESVGGRVAERKQVENAKASKKNGNVGKTTWQNKESKGETGKRSKEGHSLEME
  NENLVENGADSDEDDNSFLKQQSPQEPKSLNWSSFVDNTFAEEFTTQNQKSQDVELWEGEVVKELSVEEQIKRNR
  YYDEDEDEE

• Structural information:
  • Protein Domains: (388..44-)
    (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125"-)
  • Interpro: IPR028740  IPR001781  
  • Prosite: PS00478 PS50023
  • PDB: 2D8Y
  • PDBsum: 2D8Y
  • DIP: 29633
  • STRING: ENSP00000378400
• Other Databases: GeneCards:  LIMA1  Malacards:  LIMA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IBA	molecular function
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0032154	cleavage furrow	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0030299	intestinal cholesterol absorption	ISS	biological process
GO:0016477	cell migration	ISS	biological process
GO:0001726	ruffle	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031526	brush border membrane	ISS	cellular component
GO:0051015	actin filament binding	IEA	molecular function
GO:0030835	negative regulation of actin filament depolymerization	IEA	biological process
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	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:0031529	ruffle organization	IEA	biological process
GO:0031526	brush border membrane	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0051015	actin filament binding	IEA	molecular function
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0030299	intestinal cholesterol absorption	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0051015	actin filament binding	IDA	molecular function
GO:0051017	actin filament bundle assembly	IDA	biological process
GO:0031529	ruffle organization	IDA	biological process
GO:0030835	negative regulation of actin filament depolymerization	IDA	biological process
GO:0001725	stress fiber	IDA	cellular component
GO:0003785	actin monomer binding	IDA	molecular function
GO:0005925	focal adhesion	IDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq