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Gene Gene information from NCBI Gene database.
Entrez ID 9124
Gene name PDZ and LIM domain 1
Gene symbol PDLIM1
Synonyms (NCBI Gene)
CLIM1CLP-36CLP36HEL-S-112hCLIM1
Chromosome 10
Chromosome location 10q23.33
Summary This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cy
miRNA miRNA information provided by mirtarbase database.
145 Show/Hide all (145)
miRTarBase ID miRNA Experiments Reference
MIRT029619 hsa-miR-26b-5p Microarray 19088304
MIRT049434 hsa-miR-92a-3p CLASH 23622248
MIRT044643 hsa-miR-320a CLASH 23622248
MIRT041081 hsa-miR-504-5p CLASH 23622248
MIRT1222072 hsa-miR-103a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42 Show/Hide all (42)
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0001725 Component Stress fiber IBA
GO:0001725 Component Stress fiber IDA 11110697
GO:0001725 Component Stress fiber IEA
GO:0003713 Function Transcription coactivator activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605900 2067 ENSG00000107438
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00151
Protein name PDZ and LIM domain protein 1 (C-terminal LIM domain protein 1) (Elfin) (LIM domain protein CLP-36)
Protein function Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton (PubMed:10861853). Involved in assembly, disassembly and directioning of stress fibers in fibroblasts. Required for the localization of
PDB 1X62 , 2PKT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00412 LIM 260 → 314 LIM domain Domain
PF00595 PDZ 3 → 82 PDZ domain Domain
PF15936 DUF4749 138 → 236 Domain of unknown function (DUF4749) Family
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in the heart and skeletal muscle, moderately expressed in the spleen, small intestine, colon, placenta, and lung. A lower level expression is seen in liver, thymus, kidney, prostate and pancreas and is not found in t
Sequence
Sequence length 329
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway
Cytoskeleton in muscle cells
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 Reference Evidence Score
Hepatocellular carcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (37)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atherosclerosis Atherosclerosis Pubtator 40404675 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 21651830 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 21651830
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24662836, 27068564
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 39735560 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carotid Artery Diseases Carotid artery disease Pubtator 40404675 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital anomaly of face Facial dysmorphism BEFREE 17625998
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Heart Defects Congenital heart defects BEFREE 17625998, 22691402
★★★★★
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 23546957
★★★★★
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Development Disorder BEFREE 12080386
★★★★★
★☆☆☆☆
Found in Text Mining only