• Gene id: 26103

Gene Summary

• Gene Symbol: LRIT1   Gene   UCSC   Ensembl
• Aliases: FIGLER9, LRRC21, PAL
• Gene name: leucine rich repeat, Ig-like and transmembrane domains 1
• Alternate names: leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1, fibronectin type III, immunoglobulin and leucine rich repeat domains 9, leucine rich repeat containing 21, leucine-rich repeat, immunoglobulin-like and transmembra,
• Gene location: 10q23.1 (9844058: 9836252)     Exons: 10     NC_000003.12
• OMIM: 616103

Protein Summary

• Protein general information: Q9P2V4  
  • Name: Leucine rich repeat, immunoglobulin like domain and transmembrane domain containing protein 1 (Leucine rich repeat containing protein 21) (Photoreceptor associated LRR superfamily protein) (Retina specific protein PAL)
  • Length: 623  
  • Mass: 68041
• Sequence:

  MRVALGMLWLLALAWPPQARGFCPSQCSCSLHIMGDGSKARTVVCNDPDMTLPPASIPPDTSRLRLERTAIRRVP
  GEAFRPLGRLEQLWLPYNALSELNALMLRGLRRLRELRLPGNRLAAFPWAALRDAPKLRLLDLQANRLSAVPAEA
  ARFLENLTFLDLSSNQLMRLPQELIVSWAHLETGIFPPGHHPRRVLGLQDNPWACDCRLYDLVHLLDGWAPNLAF
  IETELRCASPRSLAGVAFSQLELRKCQGPELHPGVASIRSLLGGTALLRCGATGVPGPEMSWRRANGRPLNGTVH
  QEVSSDGTSWTLLGLPAVSHLDSGDYICQAKNFLGASETVISLIVTEPPTSTEHSGSPGALWARTGGGGEAAAYN
  NKLVARHVPQIPKPAVLATGPSVPSTKEELTLEHFQMDALGELSDGRAGPSEARMVRSVKVVGDTYHSVSLVWKA
  PQAKNTTAFSVLYAVFGQHSMRRVIVQPGKTRVTITGLLPKTKYVACVCVQGLVPRKEQCVIFSTNEVVDAENTQ
  QLINVVVISVAIVIALPLTLLVCCSALQKRCRKCFNKDSTEATVTYVNLERLGYSEDGLEELSRHSVSEADRLLS
  ARSSVDFQAFGVKGGRRINEYFC

• Structural information:
  • Protein Domains: (22..5-)
    (/note="LRRNT-)
    (201..25-)
    (/note="LRRCT-)
    (266..33-)
    (/note="Ig-like-C2-type)
    (430..51-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR000483  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR013098  IPR003599  IPR003598  IPR001611  IPR003591  IPR032675  
  • Prosite: PS50853 PS50835 PS51450
  • CDD: cd00063
  • STRING: ENSP00000361177
• Other Databases: GeneCards:  LRIT1  Malacards:  LRIT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	ISS	cellular component
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray