• Gene id: 55164

Gene Summary

• Gene Symbol: SHQ1   Gene   UCSC   Ensembl
• Aliases: GRIM-1, Shq1p
• Gene name: SHQ1, H/ACA ribonucleoprotein assembly factor
• Alternate names: protein SHQ1 homolog, SHQ1 homolog, gene associated with retinoid and interferon-induced mortality 1,
• Gene location: 3p13 (36242278: 36192588)     Exons: 15     NC_000005.10
• Gene summary(Entrez): SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[s
• OMIM: 613663

Protein Summary

• Protein general information: Q6PI26  
  • Name: Protein SHQ1 homolog
  • Length: 577  
  • Mass: 65125
• Sequence:

  MLTPAFDLSQDPDFLTIAIRVPYARVSEFDVYFEGSDFKFYAKPYFLRLTLPGRIVENGSEQGSYDADKGIFTIR
  LPKETPGQHFEGLNMLTALLAPRKSRTAKPLVEEIGASEIPEEVVDDEEFDWEIEQTPCEEVSESALNPQCHYGF
  GNLRSGVLQRLQDELSDVIDIKDPDFTPAAERRQKRLAAELAKFDPDHYLADFFEDEAIEQILKYNPWWTDKYSK
  MMAFLEKSQEQENHATLVSFSEEEKYQLRKFVNKSYLLDKRACRQVCYSLIDILLAYCYETRVTEGEKNVESAWN
  IRKLSPTLCWFETWTNVHDIMVSFGRRVLCYPLYRHFKLVMKAYRDTIKILQLGKSAVLKCLLDIHKIFQENDPA
  YILNDLYISDYCVWIQKVKSKKLAALAEALKEVSLTKAQLGLELEELEAAALLVQEEETALKAAHSVSGQQTLCS
  SSEASDSEDSDSSVSSGNEDSGSDSEQDELKDSPSETVSSLQGPFLEESSAFLIVDGGVRRNTAIQESDASQGKP
  LASSWPLGVSGPLIEELGEQLKTTVQVSEPKGTTAVNRSNIQERDGCQTPNN

• Structural information:
  • Protein Domains: (1..8-)
    (/note="CS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00547"-)
  • Interpro: IPR007052  IPR008978  IPR039742  IPR007009  
  • Prosite: PS51203
  • PDB: 2MNW 4PBD 4PCK
  • PDBsum: 2MNW 4PBD 4PCK
  • STRING: ENSP00000315182
• Other Databases: GeneCards:  SHQ1  Malacards:  SHQ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051082	unfolded protein binding	IBA	molecular function
GO:0005654	nucleoplasm	IBA	cellular component
GO:0000493	box H/ACA snoRNP assembly	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000493	box H/ACA snoRNP assembly	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:2000233	negative regulation of rRNA processing	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904874	positive regulation of telomerase RNA localization to Cajal body	HMP	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0022618	ribonucleoprotein complex assembly	IDA	biological process
GO:0015030	Cajal body	IDA	NOT|cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	NOT|cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
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)