Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55164
Gene name	SHQ1, H/ACA ribonucleoprotein assembly factor
Gene symbol	SHQ1
Synonyms (NCBI Gene)	DYT35GRIM-1NEDDSShq1p
Chromosome	3
Chromosome location	3p13
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]).[s

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Show/Hide all (174)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040815	hsa-miR-18a-3p	CLASH	23622248
MIRT1347739	hsa-miR-1184	CLIP-seq
MIRT1347740	hsa-miR-1205	CLIP-seq
MIRT1347741	hsa-miR-1255a	CLIP-seq
MIRT1347742	hsa-miR-1255b	CLIP-seq
MIRT1347743	hsa-miR-128	CLIP-seq
MIRT1347744	hsa-miR-140-3p	CLIP-seq
MIRT1347745	hsa-miR-142-5p	CLIP-seq
MIRT1347746	hsa-miR-216a	CLIP-seq
MIRT1347747	hsa-miR-27a	CLIP-seq
MIRT1347748	hsa-miR-27b	CLIP-seq
MIRT1347749	hsa-miR-3065-5p	CLIP-seq
MIRT1347750	hsa-miR-3158-5p	CLIP-seq
MIRT1347751	hsa-miR-3545-3p	CLIP-seq
MIRT1347752	hsa-miR-371-5p	CLIP-seq
MIRT1347753	hsa-miR-371b-5p	CLIP-seq
MIRT1347754	hsa-miR-382	CLIP-seq
MIRT1347755	hsa-miR-412	CLIP-seq
MIRT1347756	hsa-miR-4643	CLIP-seq
MIRT1347757	hsa-miR-4646-3p	CLIP-seq
MIRT1347758	hsa-miR-4717-3p	CLIP-seq
MIRT1347759	hsa-miR-4802-3p	CLIP-seq
MIRT1347760	hsa-miR-490-5p	CLIP-seq
MIRT1347761	hsa-miR-513a-5p	CLIP-seq
MIRT1347762	hsa-miR-513c	CLIP-seq
MIRT1347763	hsa-miR-514b-5p	CLIP-seq
MIRT1347764	hsa-miR-548aa	CLIP-seq
MIRT1347765	hsa-miR-548c-3p	CLIP-seq
MIRT1347766	hsa-miR-561	CLIP-seq
MIRT1347767	hsa-miR-563	CLIP-seq
MIRT1347768	hsa-miR-570	CLIP-seq
MIRT1347769	hsa-miR-642b	CLIP-seq
MIRT1347770	hsa-miR-664	CLIP-seq
MIRT1347771	hsa-miR-9	CLIP-seq
MIRT2102975	hsa-miR-1206	CLIP-seq
MIRT1347741	hsa-miR-1255a	CLIP-seq
MIRT1347742	hsa-miR-1255b	CLIP-seq
MIRT1347744	hsa-miR-140-3p	CLIP-seq
MIRT1347745	hsa-miR-142-5p	CLIP-seq
MIRT1347746	hsa-miR-216a	CLIP-seq
MIRT1347752	hsa-miR-371-5p	CLIP-seq
MIRT1347753	hsa-miR-371b-5p	CLIP-seq
MIRT1347754	hsa-miR-382	CLIP-seq
MIRT2102976	hsa-miR-3934	CLIP-seq
MIRT2102977	hsa-miR-4261	CLIP-seq
MIRT1347756	hsa-miR-4643	CLIP-seq
MIRT1347757	hsa-miR-4646-3p	CLIP-seq
MIRT2102978	hsa-miR-4698	CLIP-seq
MIRT1347758	hsa-miR-4717-3p	CLIP-seq
MIRT2102979	hsa-miR-4726-3p	CLIP-seq
MIRT1347759	hsa-miR-4802-3p	CLIP-seq
MIRT1347760	hsa-miR-490-5p	CLIP-seq
MIRT1347766	hsa-miR-561	CLIP-seq
MIRT1347767	hsa-miR-563	CLIP-seq
MIRT1347769	hsa-miR-642b	CLIP-seq
MIRT1347741	hsa-miR-1255a	CLIP-seq
MIRT1347742	hsa-miR-1255b	CLIP-seq
MIRT1347744	hsa-miR-140-3p	CLIP-seq
MIRT1347746	hsa-miR-216a	CLIP-seq
MIRT2327289	hsa-miR-3190	CLIP-seq
MIRT1347752	hsa-miR-371-5p	CLIP-seq
MIRT1347753	hsa-miR-371b-5p	CLIP-seq
MIRT2327290	hsa-miR-3908	CLIP-seq
MIRT2327291	hsa-miR-4491	CLIP-seq
MIRT1347756	hsa-miR-4643	CLIP-seq
MIRT2327292	hsa-miR-4657	CLIP-seq
MIRT1347758	hsa-miR-4717-3p	CLIP-seq
MIRT2327293	hsa-miR-4795-3p	CLIP-seq
MIRT1347759	hsa-miR-4802-3p	CLIP-seq
MIRT2327294	hsa-miR-4803	CLIP-seq
MIRT1347760	hsa-miR-490-5p	CLIP-seq
MIRT2327295	hsa-miR-510	CLIP-seq
MIRT2327296	hsa-miR-512-5p	CLIP-seq
MIRT2327297	hsa-miR-545	CLIP-seq
MIRT2327298	hsa-miR-548ac	CLIP-seq
MIRT2327299	hsa-miR-548ae	CLIP-seq
MIRT2327300	hsa-miR-548aj	CLIP-seq
MIRT2327301	hsa-miR-548am	CLIP-seq
MIRT2327302	hsa-miR-548d-3p	CLIP-seq
MIRT2327303	hsa-miR-548x	CLIP-seq
MIRT2327304	hsa-miR-548z	CLIP-seq
MIRT1347767	hsa-miR-563	CLIP-seq
MIRT2327305	hsa-miR-576-3p	CLIP-seq
MIRT1347769	hsa-miR-642b	CLIP-seq
MIRT1347739	hsa-miR-1184	CLIP-seq
MIRT1347740	hsa-miR-1205	CLIP-seq
MIRT1347741	hsa-miR-1255a	CLIP-seq
MIRT1347742	hsa-miR-1255b	CLIP-seq
MIRT2394501	hsa-miR-1303	CLIP-seq
MIRT1347744	hsa-miR-140-3p	CLIP-seq
MIRT1347746	hsa-miR-216a	CLIP-seq
MIRT2394502	hsa-miR-3123	CLIP-seq
MIRT1347750	hsa-miR-3158-5p	CLIP-seq
MIRT2394503	hsa-miR-3925-5p	CLIP-seq
MIRT2394504	hsa-miR-4447	CLIP-seq
MIRT2394505	hsa-miR-4472	CLIP-seq
MIRT1347756	hsa-miR-4643	CLIP-seq
MIRT1347758	hsa-miR-4717-3p	CLIP-seq
MIRT2327293	hsa-miR-4795-3p	CLIP-seq
MIRT1347759	hsa-miR-4802-3p	CLIP-seq
MIRT1347760	hsa-miR-490-5p	CLIP-seq
MIRT1347769	hsa-miR-642b	CLIP-seq
MIRT2394506	hsa-miR-659	CLIP-seq
MIRT2327290	hsa-miR-3908	CLIP-seq
MIRT2327294	hsa-miR-4803	CLIP-seq
MIRT2327295	hsa-miR-510	CLIP-seq
MIRT2327296	hsa-miR-512-5p	CLIP-seq
MIRT2327297	hsa-miR-545	CLIP-seq
MIRT2327298	hsa-miR-548ac	CLIP-seq
MIRT2327299	hsa-miR-548ae	CLIP-seq
MIRT2327300	hsa-miR-548aj	CLIP-seq
MIRT2327301	hsa-miR-548am	CLIP-seq
MIRT2327302	hsa-miR-548d-3p	CLIP-seq
MIRT2327303	hsa-miR-548x	CLIP-seq
MIRT2327304	hsa-miR-548z	CLIP-seq
MIRT1347741	hsa-miR-1255a	CLIP-seq
MIRT1347742	hsa-miR-1255b	CLIP-seq
MIRT2622573	hsa-miR-1279	CLIP-seq
MIRT1347744	hsa-miR-140-3p	CLIP-seq
MIRT1347746	hsa-miR-216a	CLIP-seq
MIRT2622574	hsa-miR-297	CLIP-seq
MIRT2622575	hsa-miR-3149	CLIP-seq
MIRT2622576	hsa-miR-3613-3p	CLIP-seq
MIRT1347752	hsa-miR-371-5p	CLIP-seq
MIRT1347753	hsa-miR-371b-5p	CLIP-seq
MIRT2622577	hsa-miR-376c	CLIP-seq
MIRT2327290	hsa-miR-3908	CLIP-seq
MIRT2622578	hsa-miR-4633-5p	CLIP-seq
MIRT1347756	hsa-miR-4643	CLIP-seq
MIRT2102978	hsa-miR-4698	CLIP-seq
MIRT1347758	hsa-miR-4717-3p	CLIP-seq
MIRT1347759	hsa-miR-4802-3p	CLIP-seq
MIRT2327294	hsa-miR-4803	CLIP-seq
MIRT1347760	hsa-miR-490-5p	CLIP-seq
MIRT2327295	hsa-miR-510	CLIP-seq
MIRT2327296	hsa-miR-512-5p	CLIP-seq
MIRT2622579	hsa-miR-532-5p	CLIP-seq
MIRT2327297	hsa-miR-545	CLIP-seq
MIRT2327298	hsa-miR-548ac	CLIP-seq
MIRT2327299	hsa-miR-548ae	CLIP-seq
MIRT2327300	hsa-miR-548aj	CLIP-seq
MIRT2327301	hsa-miR-548am	CLIP-seq
MIRT2327302	hsa-miR-548d-3p	CLIP-seq
MIRT2327303	hsa-miR-548x	CLIP-seq
MIRT2327304	hsa-miR-548z	CLIP-seq
MIRT1347769	hsa-miR-642b	CLIP-seq
MIRT1347741	hsa-miR-1255a	CLIP-seq
MIRT1347742	hsa-miR-1255b	CLIP-seq
MIRT1347744	hsa-miR-140-3p	CLIP-seq
MIRT1347746	hsa-miR-216a	CLIP-seq
MIRT1347752	hsa-miR-371-5p	CLIP-seq
MIRT1347753	hsa-miR-371b-5p	CLIP-seq
MIRT2327290	hsa-miR-3908	CLIP-seq
MIRT2327291	hsa-miR-4491	CLIP-seq
MIRT1347756	hsa-miR-4643	CLIP-seq
MIRT2327292	hsa-miR-4657	CLIP-seq
MIRT2102978	hsa-miR-4698	CLIP-seq
MIRT1347758	hsa-miR-4717-3p	CLIP-seq
MIRT1347759	hsa-miR-4802-3p	CLIP-seq
MIRT2327294	hsa-miR-4803	CLIP-seq
MIRT1347760	hsa-miR-490-5p	CLIP-seq
MIRT2327295	hsa-miR-510	CLIP-seq
MIRT2327296	hsa-miR-512-5p	CLIP-seq
MIRT2327297	hsa-miR-545	CLIP-seq
MIRT2327298	hsa-miR-548ac	CLIP-seq
MIRT2327299	hsa-miR-548ae	CLIP-seq
MIRT2327300	hsa-miR-548aj	CLIP-seq
MIRT2327301	hsa-miR-548am	CLIP-seq
MIRT2327302	hsa-miR-548d-3p	CLIP-seq
MIRT2327303	hsa-miR-548x	CLIP-seq
MIRT2327304	hsa-miR-548z	CLIP-seq
MIRT1347767	hsa-miR-563	CLIP-seq
MIRT2327305	hsa-miR-576-3p	CLIP-seq
MIRT1347769	hsa-miR-642b	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000493	Process	Box H/ACA snoRNP assembly	IBA
GO:0000493	Process	Box H/ACA snoRNP assembly	IEA
GO:0005515	Function	Protein binding	IPI	19383767, 25416956, 28514442, 29178645, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA	19383767
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	19383767
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19383767
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0015030	Component	Cajal body	IDA	19383767
GO:0022618	Process	Protein-RNA complex assembly	IDA	19383767
GO:0051082	Function	Unfolded protein binding	IBA
GO:0060765	Process	Regulation of androgen receptor signaling pathway	IEA
GO:0090671	Process	Telomerase RNA localization to Cajal body	HMP	25467444
GO:1904263	Process	Positive regulation of TORC1 signaling	IEA

MIM	HGNC	e!Ensembl
613663	25543	ENSG00000144736

Q6PI26

Protein name

Protein SHQ1 homolog

Protein function

Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA

PDB

2MNW , 4PBD , 4PCK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04925	SHQ1	239 → 414	SHQ1 protein	Family

Sequence

MLTPAFDLSQDPDFLTIAIRVPYARVSEFDVYFEGSDFKFYAKPYFLRLTLPGRIVENGS
EQGSYDADKGIFTIRLPKETPGQHFEGLNMLTALLAPRKSRTAKPLVEEIGASEIPEEVV
DDEEFDWEIEQTPCEEVSESALNPQCHYGFGNLRSGVLQRLQDELSDVIDIKDPDFTPAA
ERRQKRLAAELAKFDPDHYLADFFEDEAIEQILKYNPWWTDKYSKMMAFLEKSQEQENHA
TLVSFSEEEKYQLRKFVNKSYLLDKRACRQVCYSLIDILLAYCYETRVTEGEKNVESAWN
IRKLSPTLCWFETWTNVHDIMVSFGRRVLCYPLYRHFKLVMKAYRDTIKILQLGKSAVLK
CLLDIHKIFQENDPAYILNDLYISDYCVWIQKVKSKKLAALAEALKEVSLTKAQLGLELE
ELEAAALLVQEEETALKAAHSVSGQQTLCSSSEASDSEDSDSSVSSGNEDSGSDSEQDEL
KDSPSETVSSLQGPFLEESSAFLIVDGGVRRNTAIQESDASQGKPLASSWPLGVSGPLIE
ELGEQLKTTVQVSEPKGTTAVNRSNIQERDGCQTPNN

Sequence length

577

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia 35, childhood-onset	Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EARLY ONSET TORSION DYSTONIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder with dystonia and seizures	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SHQ1-related disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anaplasia	Anaplasia	BEFREE	29057879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	29178645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	19734544, 22085966, 22117216, 29178645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	22117216, 29178645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29057879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hoyeraal Hreidarsson syndrome	Hoyeraal hreidarsson syndrome	Pubtator	29178645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29057879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23570385, 27328849, 29057879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21931644, 23570385, 23794398, 25081541		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29178645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25081541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30323192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	21931644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27328849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	BEFREE	19734544		★★★★★ ★☆☆☆☆ Found in Text Mining only

SHQ1 (SHQ1, H/ACA ribonucleoprotein assembly factor)