Details for: SHQ1

Gene ID: 55164

Symbol: SHQ1

Ensembl ID: ENSG00000144736

Description: SHQ1, H/ACA ribonucleoprotein assembly factor

Associated with

Other Information

Genular Protein ID: 883461096

Symbol: SHQ1_HUMAN

Name: Protein SHQ1 homolog

UniProtKB Accession Codes:

Q6PI26 B4DL05 Q6MZJ4 Q7Z748 Q9H7E5 Q9NVS8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 3 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SAM 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 19383767

Title: SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs.

PubMed ID: 19383767

DOI: 10.1261/rna.1532109

PubMed ID: 29178645

Title: Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.

PubMed ID: 29178645

DOI: 10.1002/mgg3.314

PubMed ID: 34542157

Title: Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

PubMed ID: 34542157

DOI: 10.1093/hmg/ddab247

Sequence Information:

  • Length: 577
  • Mass: 65125
  • Checksum: 277C2FC532A4D570
  • Sequence:
    • MLTPAFDLSQ DPDFLTIAIR VPYARVSEFD VYFEGSDFKF YAKPYFLRLT LPGRIVENGS 
EQGSYDADKG IFTIRLPKET PGQHFEGLNM LTALLAPRKS RTAKPLVEEI GASEIPEEVV 
DDEEFDWEIE QTPCEEVSES ALNPQCHYGF GNLRSGVLQR LQDELSDVID IKDPDFTPAA 
ERRQKRLAAE LAKFDPDHYL ADFFEDEAIE QILKYNPWWT DKYSKMMAFL EKSQEQENHA 
TLVSFSEEEK YQLRKFVNKS YLLDKRACRQ VCYSLIDILL AYCYETRVTE GEKNVESAWN 
IRKLSPTLCW FETWTNVHDI MVSFGRRVLC YPLYRHFKLV MKAYRDTIKI LQLGKSAVLK 
CLLDIHKIFQ ENDPAYILND LYISDYCVWI QKVKSKKLAA LAEALKEVSL TKAQLGLELE 
ELEAAALLVQ EEETALKAAH SVSGQQTLCS SSEASDSEDS DSSVSSGNED SGSDSEQDEL 
KDSPSETVSS LQGPFLEESS AFLIVDGGVR RNTAIQESDA SQGKPLASSW PLGVSGPLIE 
ELGEQLKTTV QVSEPKGTTA VNRSNIQERD GCQTPNN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.