• Gene id: 160492

Gene Summary

• Gene Symbol: LMNTD1   Gene   UCSC   Ensembl
• Aliases: IFLTD1, LMNARS1, PAS1C1
• Gene name: lamin tail domain containing 1
• Alternate names: lamin tail domain-containing protein 1, intermediate filament tail domain containing 1, intermediate filament tail domain-containing protein 1,
• Gene location: 12p12.1 (25648603: 25476081)     Exons: 24     NC_000012.12
• OMIM: 617279

Protein Summary

• Protein general information: Q8N9Z9  
  • Name: Lamin tail domain containing protein 1 (Intermediate filament tail domain containing protein 1)
  • Length: 388  
  • Mass: 43408
• Sequence:

  MLEGSWINRREDKLGVYSLVHFSPKMLGSVATTLPLSSSNSSGMPLGYYLSSPQISRVTISTTGQLTSKATVGSC
  SRVENSLDASPFSVPKKQDESPMIGDGEDYFLSLFGDSKKLTAHSNYTQKTLKYFSMILEEVGQFTSSSLGDVEI
  AEVNVKGLFVKLINSSLDKEMAIGDHILQQNVNGQTISLYRFLPNIVMQANSTVTVWAAASEAKHQPPSDFLWKE
  QDKFRASPDCITILCKPNGQAIAWYTPIHWKQAWEKLDADVEFNRCSVVSPTFRKRVFQWTASTATITKEKQDQP
  KKDISNYQVEQAQVLLKREKEIPPTVFPNRSPWCQNPYVSAHPYCPLIEPHNTSTAGGRLDRQPRTRSTRPNRAS
  GSKKKKTSESQKQ

• Structural information:
  • Protein Domains: (136..25-)
    (/note="LTD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01187"-)
  • Interpro: IPR001322  IPR036415  IPR042840  
  • Prosite: PS51841
  • STRING: ENSP00000407353
• Other Databases: GeneCards:  LMNTD1  Malacards:  LMNTD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005635	nuclear envelope	IBA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008283	cell population proliferation	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray