Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51474
Gene name Gene Name - the full gene name approved by the HGNC.
LIM domain and actin binding 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LIMA1
Synonyms (NCBI Gene) Gene synonyms aliases
EPLIN, LDLCQ8, SREBP3
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608364 24636 ENSG00000050405
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Fibromuscular Dysplasia Fibromuscular dysplasia N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension N/A N/A GWAS
Associations from Text Mining Disease 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