Gene Gene information from NCBI Gene database.
Entrez ID 25802
Gene name Leiomodin 1
Gene symbol LMOD1
Synonyms (NCBI Gene)
1D64kDD1MMIHS3SM-LMODSMLMOD
Chromosome 1
Chromosome location 1q32.1
Summary The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression o
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs777696417 G>A,C Pathogenic Coding sequence variant, stop gained, missense variant
miRNA miRNA information provided by mirtarbase database.
120
miRTarBase ID miRNA Experiments Reference
MIRT018126 hsa-miR-335-5p Microarray 18185580
MIRT1111967 hsa-miR-1253 CLIP-seq
MIRT1111968 hsa-miR-1271 CLIP-seq
MIRT1111969 hsa-miR-1291 CLIP-seq
MIRT1111970 hsa-miR-1293 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005523 Function Tropomyosin binding IBA
GO:0005523 Function Tropomyosin binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602715 6647 ENSG00000163431
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29536
Protein name Leiomodin-1 (64 kDa autoantigen 1D) (64 kDa autoantigen 1D3) (64 kDa autoantigen D1) (Leiomodin, muscle form) (Smooth muscle leiomodin) (SM-Lmod) (Thyroid-associated ophthalmopathy autoantigen)
Protein function Required for proper contractility of visceral smooth muscle cells (PubMed:28292896). Mediates nucleation of actin filaments.
PDB 4Z79 , 4Z8G , 4Z94
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03250 Tropomodulin 6 121 Tropomodulin Family
PF02205 WH2 571 600 WH2 motif Family
Tissue specificity TISSUE SPECIFICITY: Detected in lung vascular smooth muscle (at protein level) (PubMed:27144530). Detected in thyroid and extraocular smooth muscle, but not skeletal muscle (PubMed:2026759). Detected in heart, aorta, skeletal muscle, colon, urinary bladde
Sequence
MSRVAKYRRQVSEDPDIDSLLETLSPEEMEELEKELDVVDPDGSVPVGLRQRNQTEKQST
GVYNREAMLNFCEKETKKLMQREMSMDESKQVETKTDAKNGEERGRDASKKALGPRRDSD
L
GKEPKRGGLKKSFSRDRDEAGGKSGEKPKEEKIIRGIDKGRVRAAVDKKEAGKDGRGEE
RAVATKKEEEKKGSDRNTGLSRDKDKKREEMKEVAKKEDDEKVKGERRNTDTRKEGEKMK
RAGGNTDMKKEDEKVKRGTGNTDTKKDDEKVKKNEPLHEKEAKDDSKTKTPEKQTPSGPT
KPSEGPAKVEEEAAPSIFDEPLERVKNNDPEMTEVNVNNSDCITNEILVRFTEALEFNTV
VKLFALANTRADDHVAFAIAIMLKANKTITSLNLDSNHITGKGILAIFRALLQNNTLTEL
RFHNQRHICGGKTEMEIAKLLKENTTLLKLGYHFELAGPRMTVTNLLSRNMDKQRQKRLQ
EQRQAQEAKGEKKDLLEVPKAGAVAKGSPKPSPQPSPKPSPKNSPKKGGAPAAPPPPPPP
LAPPLIMENLKNSLSPATQRKMGDKVLPAQEKNSRDQLLAAIRSSNLKQLKKVEVPKLLQ
Sequence length 600
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytoskeleton in muscle cells   Smooth Muscle Contraction
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 Pathogenic rs1487322841, rs1196609413, rs777696417 RCV001796556
RCV001796555
RCV001461845
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1 Pathogenic rs777696417 RCV005895420
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Visceral myopathy 1 Pathogenic rs777696417 RCV000508596
★★★★☆
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
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS Disgenet
★★☆☆☆
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
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 34852854 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28530674
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis Pubtator 36292702 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28530674
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 36292702 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30786729
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 30786729 Associate
★☆☆☆☆
Found in Text Mining only
Congenital exomphalos Congenital Exomphalos HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital malrotation of intestine Congenital malrotation of intestine HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital omphalocele Congenital omphalocele HPO_DG
★☆☆☆☆
Found in Text Mining only