SHQ1 - SHQ1, H/ACA ribonucleoprotein assembly factor Gene

Also Known as DYT35; NEDDS; Shq1p; GRIM-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55164

About SHQ1

Cytogenetic location: 3p13 Genomic coordinates (GRCh38): 3:72,725,272-72,848,445 (from NCBI)

This gene has 8 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in testis (RPKM 2.9), thyroid (RPKM 2.1) and 25 other tissues.

Summary

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]).[supplied by OMIM, Dec 2010]

SHQ1 Products (1)

mRNA Protein Name
NM_018130.3 NP_060600.2 protein SHQ1 homolog

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19383767 GOA
Biological Process GO Annotation Evidence References Source
involved in protein-RNA complex assembly IDA
IDA: Inferred from direct assay
19383767 GOA
Cellular Component GO Annotation Evidence References Source
NOT located in Cajal body IDA
IDA: Inferred from direct assay
19383767 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
19383767 GOA
NOT located in nucleolus IDA
IDA: Inferred from direct assay
19383767 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
19383767 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SHQ1 Protein Structure

SHQ1

SHQ1: SHQ1 protein (233 - 415)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 577 a.a.
Protein Preferred Names Protein Names

protein SHQ1 homolog

  • SHQ1 homolog

SHQ1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SHQ1 Q6PI26 FLJ13057 Homo sapiens Q53SE7
Validated Y2H
25416956
Intra
SHQ1 Q6PI26 GMCL1 Homo sapiens Q96IK5
Y2H Array
32296183
Intra
SHQ1 Q6PI26 GMCL1 Homo sapiens Q96IK5
Y2H Prey Pooling
32296183
Intra
SHQ1 Q6PI26 GMCL1 Homo sapiens Q96IK5
Validated Y2H
32296183
Intra
SHQ1 Q6PI26 GMCL2 Homo sapiens Q8NEA9
Validated Y2H
25416956
Intra
SHQ1 Q6PI26 GMCL2 Homo sapiens Q8NEA9
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Dystonia 35, Childhood-Onset

  • DYT35
Neurodevelopmental Disorder With Dystonia And Seizures

  • NEDDS
Dyskeratosis Congenita

  • Dyskeratosis Congenita Autosomal Dominant

  • Dc

  • Dkc

  • Zinsser-Engman-Cole Syndrome

  • Dyskeratosis Congenita, Autosomal Dominant

  • Autosomal Dominant Dyskeratosis Congenita

  • Dkca

  • Dyskeratosis Congenita Scoggins Type

  • Zinsser-Cole-Engman Syndrome

  • X-Linked Dyskeratosis Congenita

  • Hoyeraal-Hreidarsson Syndrome
Dyskeratosis Congenita, X-Linked

  • DKCX

  • X-Linked Dyskeratosis Congenita

  • Zinsser-Cole-Engman Syndrome

  • Hoyeraal-Hreidarsson Syndrome

  • Dyskeratosis Congenita X-Linked

  • HHS

  • Cerebellar Hypoplasia With Pancytopenia

  • Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia

  • Dyskeratosis Congenita
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12883 SHQ1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SHQ1 VGNC VGNC:77308
Canis familiaris SHQ1 VGNC VGNC:46155
Rattus norvegicus SHQ1 RGD RGD:1310610
Felis catus SHQ1 VGNC VGNC:65132
Mus musculus SHQ1 MGD MGI:1919421
Bos taurus SHQ1 VGNC VGNC:34607
Others SHQ1 NCBI