SHQ1 - SHQ1, H/ACA ribonucleoprotein assembly factor Gene

Homo sapiens

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

Gene ID: 55164 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19383767	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein-RNA complex assembly	IDA IDA: Inferred from direct assay	19383767	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12883	SHQ1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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