Gene Gene information from NCBI Gene database.
Entrez ID 51474
Gene name LIM domain and actin binding 1
Gene symbol LIMA1
Synonyms (NCBI Gene)
EPLINLDLCQ8SREBP3
Chromosome 12
Chromosome location 12q13.12
Summary 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
miRNA miRNA information provided by mirtarbase database.
374
miRTarBase ID miRNA Experiments Reference
MIRT020165 hsa-miR-130b-3p Sequencing 20371350
MIRT027946 hsa-miR-93-5p Sequencing 20371350
MIRT028234 hsa-miR-33a-5p Sequencing 20371350
MIRT028688 hsa-miR-27a-3p Sequencing 20371350
MIRT051156 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IDA 10618726
GO:0001725 Component Stress fiber IEA
GO:0001726 Component Ruffle IDA 32496561, 33999101
GO:0001726 Component Ruffle IEA
GO:0001726 Component Ruffle ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608364 24636 ENSG00000050405
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHB6
Protein name LIM domain and actin-binding protein 1 (Epithelial protein lost in neoplasm)
Protein function Actin-binding protein involved in actin cytoskeleton regulation and dynamics. Increases the number and size of actin stress fibers and inhibits membrane ruffling. Inhibits actin filament depolymerization. Bundles actin filaments, delays filament
PDB 2D8Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00412 LIM 390 446 LIM domain Domain
Tissue specificity 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
MESSPFNRRQWTSLSLRVTAKELSLVNKNKSSAIVEIFSKYQKAAEETNMEKKRSNTENL
SQHFRKGTLTVLKKKWENPGLGAESHTDSLRNSSTEIRHRADHPPAEVTSHAASGAKADQ
EEQIHPRSRLRSPPEALVQGRYPHIKDGEDLKDHSTESKKMENCLGESRHEVEKSEISEN
TDASGKIEKYNVPLNRLKMMFEKGEPTQTKILRAQSRSASGRKISENSYSLDDLEIGPGQ
LSSSTFDSEKNESRRNLELPRLSETSIKDRMAKYQAAVSKQSSSTNYTNELKASGGEIKI
HKMEQKENVPPGPEVCITHQEGEKISANENSLAVRSTPAEDDSRDSQVKSEVQQPVHPKP
LSPDSRASSLSESSPPKAMKKFQAPARETCVECQKTVYPMERLLANQQVFHISCFRCSYC
NNKLSLGTYASLHGRIYCKPHFNQLF
KSKGNYDEGFGHRPHKDLWASKNENEEILERPAQ
LANARETPHSPGVEDAPIAKVGVLAASMEAKASSQQEKEDKPAETKKLRIAWPPPTELGS
SGSALEEGIKMSKPKWPPEDEISKPEVPEDVDLDLKKLRRSSSLKERSRPFTVAASFQST
SVKSPKTVSPPIRKGWSMSEQSEESVGGRVAERKQVENAKASKKNGNVGKTTWQNKESKG
ETGKRSKEGHSLEMENENLVENGADSDEDDNSFLKQQSPQEPKSLNWSSFVDNTFAEEFT
TQNQKSQDVELWEGEVVKELSVEEQIKRNRYYDEDEDEE
Sequence length 759
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
LIMA1-related disorder Benign; Likely benign rs528872075, rs139678259, rs373254884, rs200957875, rs375473793 RCV003977362
RCV003911621
RCV003924344
RCV003939366
RCV003954541
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8 association rs1555205375, rs140372565 RCV000677193
RCV000677194
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 37396184
Breast Neoplasms Inhibit 21625216
Carcinoma Adenoid Cystic Inhibit 18332873
Carcinoma Squamous Cell Associate 32991423
Cholangiocarcinoma Associate 32116234
Colorectal Neoplasms Inhibit 21625216, 28465438, 36499558
Diabetic Nephropathies Associate 37396184
Disease Resistance Associate 36499558
Granulosa cell tumor of the ovary Associate 25884336
Leukemia Myeloid Acute Associate 36246561