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

SHQ1 Protein Structure

SHQ1

0
100
200
300
400
500
577 a.a.

Protein Preferred Names

Protein Names

protein SHQ1 homolog

SHQ1 homolog

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

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