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LMOD1 (leiomodin 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25802
Gene nameGene Name - the full gene name approved by the HGNC.
Leiomodin 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
LMOD1
SynonymsGene synonyms aliases
1D, 64kD, D1, MMIHS3, SM-LMOD, SMLMOD
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
SummarySummary of gene provided in NCBI Entrez Gene.
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 of leiomodin 1 may be linked to Graves` disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs777696417 G>A,C Pathogenic Coding sequence variant, stop gained, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT018126 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005523 Function Tropomyosin binding IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
GO:0005856 Component Cytoskeleton IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 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
Sequence 
MSRVAKYRRQVSEDPDIDSLLETLSPEEMEELEKELDVVDPDGSVPVGLRQRNQTEKQST
GVYNREAMLNFCEKETKKLMQREMSMDESKQVETKTDAKNGEERGRDASKKALGPRRDSD
LGKEPKRGGLKKSFSRDRDEAGGKSGEKPKEEKIIRGIDKGRVRAAVDKKEAGKDGRGEE
RAVATKKEEEKKGSDRNTGLSRDKDKKREEMKEVAKKEDDEKVKGERRNTDTRKEGEKMK
RAGGNTDMKKEDEKVKRGTGNTDTKKDDEKVKKNEPLHEKEAKDDSKTKTPEKQTPSGPT
KPSEGPAKVEEEAAPSIFDEPLERVKNNDPEMTEVNVNNSDCITNEILVRFTEALEFNTV
VKLFALANTRADDHVAFAIAIMLKANKTITSLNLDSNHITGKGILAIFRALLQNNTLTEL
RFHNQRHICGGKTEMEIAKLLKENTTLLKLGYHFELAGPRMTVTNLLSRNMDKQRQKRLQ
EQRQAQEAKGEKKDLLEVPKAGAVAKGSPKPSPQPSPKPSPKNSPKKGGAPAAPPPPPPP
LAPPLIMENLKNSLSPATQRKMGDKVLPAQEKNSRDQLLAAIRSSNLKQLKKVEVPKLLQ
Sequence length 600
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Cytoskeleton in muscle cells   Smooth Muscle Contraction
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 28530674, 29212778
Visceral myopathy Visceral Myopathy rs587777383, rs587777384, rs587777385, rs78001248, rs587777386, rs587777387, rs587777388, rs786205435, rs587777870, rs730880256, rs797044959, rs864309490, rs864309491, rs768290597, rs864309492, rs777696417, rs1553787823, rs1057516046, rs1553787619, rs-1, rs1553396458, rs1596904322, rs1573468797, rs1573461481, rs1573462811, rs757905857, rs1680192455 28292896
Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome rs587777384, rs587777385, rs78001248, rs587777387, rs587777388, rs786205435, rs797044959, rs797045725, rs777696417, rs1553787619, rs1573462811
Unknown
Disease name Disease term dbSNP ID References
Mental depression Major Depressive Disorder rs587778876, rs587778877 29942085
Endometriosis Endometriosis rs1800629, rs-1, rs1143634 20864642
Cardiac neoplasms Heart Neoplasm
Congenital exomphalos Congenital exomphalos

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