• Gene id: 2794

Gene Summary

• Gene Symbol: GNL1   Gene   UCSC   Ensembl
• Aliases: HSR1
• Gene name: G protein nucleolar 1 (putative)
• Alternate names: guanine nucleotide-binding protein-like 1, GTP-binding protein HSR1, HSR1 GTP-binding protein,
• Gene location: 6p21.33 (110307156: 110148962)     Exons: 54     NC_000013.11
• Gene summary(Entrez): The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GN
• OMIM: 143024

Protein Summary

• Protein general information: P36915  
  • Name: Guanine nucleotide binding protein like 1 (GTP binding protein HSR1)
  • Length: 607  
  • Mass: 68661
• Sequence:

  MPRKKPFSVKQKKKQLQDKRERKRGLQDGLRSSSNSRSGSRERREEQTDTSDGESVTHHIRRLNQQPSQGLGPRG
  YDPNRYRLHFERDSREEVERRKRAAREQVLQPVSAELLELDIREVYQPGSVLDFPRRPPWSYEMSKEQLMSQEER
  SFQDYLGKIHGAYSSEKLSYFEHNLETWRQLWRVLEMSDIVLLITDIRHPVVNFPPALYEYVTGELGLALVLVLN
  KVDLAPPALVVAWKHYFHQHYPQLHVVLFTSFPRDPRTPQDPSSVLKKSRRRGRGWTRALGPEQLLRACEAITVG
  KVDLSSWREKIARDVAGATWGNGSGEEEEEEDGPAVLVEQQTDSAMEPTGPTQERYKDGVVTIGCVGFPNVGKSS
  LINGLVGRKVVSVSRTPGHTRYFQTYFLTPSVKLCDCPGLIFPSLLPRQLQVLAGIYPIAQIQEPYTAVGYLASR
  IPVQALLHLRHPEAEDPSAEHPWCAWDICEAWAEKRGYKTAKAARNDVYRAANSLLRLAVDGRLSLCFHPPGYSE
  QKGTWESHPETTELVVLQGRVGPAGDEEEEEEEELSSSCEEEGEEDRDADEEGEGDEETPTSAPGSSLAGRNPYA
  LLGEDEC

• Structural information:
  • Protein Domains: (178..41-)
    (/note="CP-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01058"-)
  • Interpro: IPR030378  IPR006073  IPR027417  
  • Prosite: PS51721
  • STRING: ENSP00000365806
• Other Databases: GeneCards:  GNL1  Malacards:  GNL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IBA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005634	nucleus	HDA	cellular component
GO:0005615	extracellular space	NAS	cellular component
GO:0007165	signal transduction	NAS	biological process
GO:0005525	GTP binding	NAS	molecular function
GO:0005198	structural molecule activity	NAS	molecular function
GO:0002456	T cell mediated immunity	NAS	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray