LMOD1
Leiomodin-1
Also known as: 1D, 64kD, D1, LMOD1_HUMAN, SM-LMOD, SMLMOD
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P29536
- Gene
- LMOD1
- Ensembl
- ENSG00000163431
- Chromosome
- 1
- Canonical length
- 600 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
600 residues, UniProt reviewed canonical sequence.
>P29536|LMOD1
1 MSRVAKYRRQ VSEDPDIDSL LETLSPEEME ELEKELDVVD PDGSVPVGLR QRNQTEKQST
61 GVYNREAMLN FCEKETKKLM QREMSMDESK QVETKTDAKN GEERGRDASK KALGPRRDSD
121 LGKEPKRGGL KKSFSRDRDE AGGKSGEKPK EEKIIRGIDK GRVRAAVDKK EAGKDGRGEE
181 RAVATKKEEE KKGSDRNTGL SRDKDKKREE MKEVAKKEDD EKVKGERRNT DTRKEGEKMK
241 RAGGNTDMKK EDEKVKRGTG NTDTKKDDEK VKKNEPLHEK EAKDDSKTKT PEKQTPSGPT
301 KPSEGPAKVE EEAAPSIFDE PLERVKNNDP EMTEVNVNNS DCITNEILVR FTEALEFNTV
361 VKLFALANTR ADDHVAFAIA IMLKANKTIT SLNLDSNHIT GKGILAIFRA LLQNNTLTEL
421 RFHNQRHICG GKTEMEIAKL LKENTTLLKL GYHFELAGPR MTVTNLLSRN MDKQRQKRLQ
481 EQRQAQEAKG EKKDLLEVPK AGAVAKGSPK PSPQPSPKPS PKNSPKKGGA PAAPPPPPPP
541 LAPPLIMENL KNSLSPATQR KMGDKVLPAQ EKNSRDQLLA AIRSSNLKQL KKVEVPKLLQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LMOD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 898 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 898 nTPM
- colon: 491 nTPM
- urinary bladder: 420 nTPM
- endometrium: 283 nTPM
- seminal vesicle: 228 nTPM
- stomach: 210 nTPM
Single-cell type
- vascular smooth muscle cells: 812 nCPM
- smooth muscle cells: 699 nCPM
- cone photoreceptor cells: 455 nCPM
- peritubular myoid cells: 413 nCPM
- pericytes: 321 nCPM
- rod photoreceptor cells: 253 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- medulla oblongata: 26 nTPM
- basal ganglia: 17 nTPM
- thalamus: 16 nTPM
- hypothalamus: 14 nTPM
- amygdala: 13 nTPM
- cerebral cortex: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LMOD1.
Disease | AllUniProt
Conditions LMOD1 is implicated in, by any mechanism.
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (MMIHS3) MIM:619362
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 89 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
- Visceral myopathy 1
- Thyroid cancer, nonmedullary, 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.41
- gnomAD pLI
- 0.87
- gnomAD missense Z
- 1.19
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin filament organization
- actin nucleation
- muscle contraction
- myofibril assembly
- pointed-end actin filament capping
- positive regulation of actin filament polymerization
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LMOD1 as an antibody target. Whether an autoantibody or antibody against LMOD1 could matter depends on whether native LMOD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LMOD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LMOD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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