• Gene id: 25802

Gene Summary

• Gene Symbol: LMOD1   Gene   UCSC   Ensembl
• Aliases: 1D, 64kD, D1, SM-LMOD, SMLMOD
• Gene name: leiomodin 1
• Alternate names: leiomodin-1, 64 kDa autoantigen 1D, 64 kDa autoantigen 1D3, 64 kDa autoantigen D1, leimodin 1 (smooth muscle), leiomodin 1 (smooth muscle), leiomodin, muscle form, smooth muscle leiomodin, thyroid and eye muscle autoantigen D1 (64kD), thyroid-associated ophthalmop,
• Gene location: 1q32.1 (201946547: 201896455)     Exons: 3     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 607284

Protein Summary

• Protein general information: P29536  
  • 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)
  • Length: 600  
  • Mass: 67030
  • Tissue specificity: Detected in lung vascular smooth muscle (at protein level) (PubMed
• Sequence:

  MSRVAKYRRQVSEDPDIDSLLETLSPEEMEELEKELDVVDPDGSVPVGLRQRNQTEKQSTGVYNREAMLNFCEKE
  TKKLMQREMSMDESKQVETKTDAKNGEERGRDASKKALGPRRDSDLGKEPKRGGLKKSFSRDRDEAGGKSGEKPK
  EEKIIRGIDKGRVRAAVDKKEAGKDGRGEERAVATKKEEEKKGSDRNTGLSRDKDKKREEMKEVAKKEDDEKVKG
  ERRNTDTRKEGEKMKRAGGNTDMKKEDEKVKRGTGNTDTKKDDEKVKKNEPLHEKEAKDDSKTKTPEKQTPSGPT
  KPSEGPAKVEEEAAPSIFDEPLERVKNNDPEMTEVNVNNSDCITNEILVRFTEALEFNTVVKLFALANTRADDHV
  AFAIAIMLKANKTITSLNLDSNHITGKGILAIFRALLQNNTLTELRFHNQRHICGGKTEMEIAKLLKENTTLLKL
  GYHFELAGPRMTVTNLLSRNMDKQRQKRLQEQRQAQEAKGEKKDLLEVPKAGAVAKGSPKPSPQPSPKPSPKNSP
  KKGGAPAAPPPPPPPLAPPLIMENLKNSLSPATQRKMGDKVLPAQEKNSRDQLLAAIRSSNLKQLKKVEVPKLLQ

• Structural information:
  • Protein Domains: (574..59-)
    (/note="WH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406"-)
  • Interpro: IPR030136  IPR032675  IPR004934  IPR003124  
  • Prosite: PS51082
  • PDB: 4Z79 4Z8G 4Z94
  • PDBsum: 4Z79 4Z8G 4Z94
  • STRING: ENSP00000356257
• Other Databases: GeneCards:  LMOD1  Malacards:  LMOD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007015	actin filament organization	IBA	biological process
GO:0005865	striated muscle thin filament	IBA	cellular component
GO:0005523	tropomyosin binding	IBA	molecular function
GO:0030239	myofibril assembly	IBA	biological process
GO:0030016	myofibril	IBA	cellular component
GO:0006936	muscle contraction	IBA	biological process
GO:0005856	cytoskeleton	IBA	cellular component
GO:0045010	actin nucleation	IDA	biological process
GO:0030016	myofibril	IDA	cellular component
GO:0030838	positive regulation of actin filament polymerization	IDA	biological process
GO:0030017	sarcomere	ISS	cellular component
GO:0005884	actin filament	ISS	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005523	tropomyosin binding	IEA	molecular function
GO:0051694	pointed-end actin filament capping	IEA	biological process
GO:0006936	muscle contraction	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005884	actin filament	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq