LMOD1 - leiomodin 1 Gene

Also Known as 1D; D1; 64kD; MMIHS3; SMLMOD; SM-LMOD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25802

About LMOD1

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:201,896,456-201,946,548 (from NCBI)

This gene has 2 transcripts (splice variants), 222 orthologues, 6 paralogues and is associated with 2 phenotypes. Broad expression in endometrium (RPKM 75.4), prostate (RPKM 68.0) and 18 other tissues.

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 of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]

LMOD1 Products (1)

mRNA Protein Name
NM_012134.3 NP_036266.2 leiomodin-1
Biological Process GO Annotation Evidence References Source
involved in actin nucleation IDA
IDA: Inferred from direct assay
26370058 GOA
involved in positive regulation of actin filament polymerization IDA
IDA: Inferred from direct assay
26370058 GOA
Cellular Component GO Annotation Evidence References Source
located in myofibril IDA
IDA: Inferred from direct assay
26370058 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LMOD1 Protein Structure

Tropomodulin

Tropomodulin: Tropomodulin (2 - 86)

WH2

WH2: WH2 motif (573 - 597)

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Protein Preferred Names Protein Names

leiomodin-1

  • 64 kDa autoantigen 1D

Related Diseases

Diseases Alias
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
  • MMIHS3

Visceral Myopathy 1
  • Visceral Myopathy

  • Megaduodenum And/Or Megacystis

  • VSCM1

  • Pseudoobstruction, Idiopathic Intestinal

  • Vscm

  • Pseudoobstruction Idiopathic Intestinal

  • Visceral Myopathy Familial

  • Berdon Syndrome

  • Idiopathic Intestinal Pseudoobstruction

  • Infantile Visceral Myopathy

  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

  • Mmih

  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

  • Intestinal Pseudo-Obstruction

  • Visceral Neuropathy, Familial, Autosomal Dominant

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

  • Berdon Syndrome

  • MMIHS

  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

  • Megacystis, Microcolon, Hypoperistalsis Syndrome

  • Visceral Myopathy

  • Mmih Syndrome

  • Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

  • MMIHS1

  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

  • Mmhs

Microcolon
Graves' Disease
  • Graves Disease

  • Exophthalmic Goiter

  • Basedow'S Disease

  • Grave'S Disease

  • Basedow Disease

  • Toxic Diffuse Goiter

  • Graves' Hyperthyroidism

  • Parry Disease

  • Autoimmune Hyperthyroidism

  • Toxic Multinodular Goiter

Intestinal Pseudo-Obstruction
  • Chronic Intestinal Pseudoobstruction

  • Chronic Intestinal Pseudo-Obstruction

  • Cipo

  • Neuronal Intestinal Dysplasia

  • Hollow Visceral Myopathy

  • Familial Visceral Neuropathy

  • Paralytic Ileus

  • Intestinal Pseudoobstruction

  • Chronic Idiopathic Intestinal Pseudo-Obstruction

  • Ciip

  • Congenital Short Bowel Syndrome

  • Enteric Neuropathy

  • Familial Visceral Myopathy

  • Ipo

  • Pseudo-Obstruction Of Intestine

  • Pseudointestinal Obstruction Syndrome

  • Pseudoobstructive Syndrome

  • Congenital Idiopathic Intestinal Pseudoobstruction

  • Visceral Myopathy, Familial

Graves Ophthalmopathy
  • Graves Orbitopathy

  • Thyroid Associated Ophthalmopathy

  • Thyroid Eye Disease

  • Thyroid-Associated Ophthalmopathy

Hyperthyroidism
  • Overactive Thyroid

Hydronephrosis
  • Stricture Of Ureteropelvic Junction With Hydronephrosis

  • Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Autoimmune Epilepsy
Coronary Restenosis
Prune Belly Syndrome
  • Eagle-Barrett Syndrome

  • Abdominal Muscle Deficiency Syndrome

  • PBS

  • Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism

  • Egbrs

  • Eagle-Barret Syndrome

  • Urethral Obstruction Sequence

  • Obrinsky Syndrome

  • Triad Syndrome

  • Obrisnksy Syndrome

  • Euos

  • Early Urethral Obstruction Sequence

  • Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction

  • Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism

  • Abdomen Muscle Deficiency Syndrome

  • Abdomen Muscular Deficiency Syndrome

  • Abdominal Muscular Deficiency Syndrome

  • Abdominal Muscle Aplasia Syndrome

Hashimoto Thyroiditis
  • Autoimmune Thyroiditis

  • Hashimoto Struma

  • Hashimoto'S Thyroiditis

  • Chronic Lymphocytic Thyroiditis

  • Lymphocytic Thyroiditis

  • Hashimoto Disease

  • Ht

  • Hashimoto'S Disease

  • Hashimoto'S Syndrome

  • Hypothyroidism, Autoimmune

  • Autoimmune Chronic Lymphocytic Thyroiditis

  • Chronic Lymphocytic Thyroiditides

  • Hashimoto Syndrome

  • Hashimotos Thyroiditis

  • Hashimoto Thyroiditis, Susceptibility To

  • Thyroiditis, Autoimmune

  • Lymphomatous Thyroiditis

  • Lymphoid Thyroiditis

  • Chronic Lymphadenoid Thyroiditis

  • Autoimmune Lymphocytic Chronic Thyroiditis

  • Goitre Lymphomatosa

  • Hashitoxicosis

  • Hashimoto Hypothyroidism

  • Lymphadenoid Goitre

  • Struma Lymphomatosa

  • Hyperthyroidism With Hashimoto Disease

  • Hashimoto Thyrotoxicosis

  • Thyrotoxicosis Due To Hashimoto Thyroiditis

  • Struma Lymphomatosis

  • Lymphadenoid Struma

Myopathy
  • Muscular Diseases

  • Myopathies

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus LMOD1 RGD RGD:1307236
Mus musculus LMOD1 MGD MGI:2135671
Bos taurus LMOD1 VGNC VGNC:30938
Macaca mulatta LMOD1 VGNC VGNC:74434
Felis catus LMOD1 VGNC VGNC:68074
Canis familiaris LMOD1 VGNC VGNC:53619
Others LMOD1 NCBI