Gene Gene information from NCBI Gene database.
Entrez ID 3983
Gene name Actin binding LIM protein 1
Gene symbol ABLIM1
Synonyms (NCBI Gene)
ABLIMLIMAB1LIMATINabLIM-1
Chromosome 10
Chromosome location 10q25.3
Summary This gene encodes a LIM zinc-binding domain-containing protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [prov
miRNA miRNA information provided by mirtarbase database.
625
miRTarBase ID miRNA Experiments Reference
MIRT017206 hsa-miR-335-5p Microarray 18185580
MIRT023261 hsa-miR-122-5p Microarray 17612493
MIRT048532 hsa-miR-100-5p CLASH 23622248
MIRT044742 hsa-miR-320a CLASH 23622248
MIRT043444 hsa-miR-331-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IBA
GO:0001725 Component Stress fiber IDA 22684256
GO:0001725 Component Stress fiber IEA
GO:0003779 Function Actin binding IEA
GO:0003779 Function Actin binding TAS 9245787
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602330 78 ENSG00000099204
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14639
Protein name Actin-binding LIM protein 1 (abLIM-1) (Actin-binding LIM protein family member 1) (Actin-binding double zinc finger protein) (LIMAB1) (Limatin)
Protein function May act as scaffold protein (By similarity). May play a role in the development of the retina. Has been suggested to play a role in axon guidance.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00412 LIM 99 154 LIM domain Domain
PF00412 LIM 158 213 LIM domain Domain
PF00412 LIM 226 281 LIM domain Domain
PF00412 LIM 285 331 LIM domain Domain
PF16182 AbLIM_anchor 349 742 Putative adherens-junction anchoring region of AbLIM Family
PF02209 VHP 743 778 Villin headpiece domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in liver, heart, skeletal muscle, brain and retina, where it is concentrated in the inner segment and in the outer plexiform layers. {ECO:0000269|PubMed:9245787}.
Sequence
Sequence length 778
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Axon guidance  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 19218281
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33061800, 39766812 Associate
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 39766812 Stimulate
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 38286121 Associate
★☆☆☆☆
Found in Text Mining only
Peritonitis Peritonitis Pubtator 37400148 Associate
★☆☆☆☆
Found in Text Mining only
Scleroderma Systemic Systemic sclerosis Pubtator 35876828 Associate
★☆☆☆☆
Found in Text Mining only