SHQ1
entrez
55164
canonical
uniprot
Q6PI26
canonical
ensembl
ENSG00000144736
resolver
ensp
ENSP00000315182
resolver
ensp
ENSP00000782722
resolver
ensp
ENSP00000782723
resolver
ensp
ENSP00000782724
resolver
genesymbol
SHQ1
resolver
hgnc
HGNC:25543
resolver
uniprot
B4DL05
resolver
uniprot
Q6MZJ4
resolver
uniprot
Q7Z748
resolver
uniprot
Q9H7E5
resolver
uniprot
Q9NVS8
resolver
uniprot_entry
SHQ1_HUMAN
resolver
uniprot_sec
B4DL05
resolver
uniprot_sec
Q6MZJ4
resolver
uniprot_sec
Q7Z748
resolver
uniprot_sec
Q9H7E5
resolver
uniprot_sec
Q9NVS8
resolver
amino_acid_sequence
MLTPAFDLSQDPDFLTIAIRVPYARVSEFDVYFEGSDFKFYAKPYFLRLTLPGRIVENGSEQGSYDADKGIFTIRLPKETPGQHFEGLNMLTALLAPRKSRTAKPLVEEIGASEIPEEVVDDEEFDWEIEQTPCEEVSESALNPQCHYGFGNLRSGVLQRLQDELSDVIDIKDPDFTPAAERRQKRLAAELAKFDPDHYLADFFEDEAIEQILKYNPWWTDKYSKMMAFLEKSQEQENHATLVSFSEEEKYQLRKFVNKSYLLDKRACRQVCYSLIDILLAYCYETRVTEGEKNVESAWNIRKLSPTLCWFETWTNVHDIMVSFGRRVLCYPLYRHFKLVMKAYRDTIKILQLGKSAVLKCLLDIHKIFQENDPAYILNDLYISDYCVWIQKVKSKKLAALAEALKEVSLTKAQLGLELEELEAAALLVQEEETALKAAHSVSGQQTLCSSSEASDSEDSDSSVSSGNEDSGSDSEQDELKDSPSETVSSLQGPFLEESSAFLIVDGGVRRNTAIQESDASQGKPLASSWPLGVSGPLIEELGEQLKTTVQVSEPKGTTAVNRSNIQERDGCQTPNN
uniprot
proteins
disease_involvement
DISEASE: Dystonia 35, childhood-onset (DYT35) [MIM:619921]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT35 is an autosomal recessive form characterized by the onset of a dystonic movement disorder in the first year of life. {ECO:0000269|PubMed:34542157}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with dystonia and seizures (NEDDS) [MIM:619922]: An autosomal recessive disorder characterized by global developmental delay, inability to walk or speak, profoundly impaired intellectual development, and early-onset dystonia. Additional features may include other extrapyramidal movements, seizures or seizure-like activity, and cerebellar hypoplasia on brain imaging. {ECO:0000269|PubMed:29178645, ECO:0000269|PubMed:34542157}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 RNA. {ECO:0000269|PubMed:19383767, ECO:0000269|PubMed:34542157}.
uniprot
proteins
mass_dalton
65125
uniprot
proteins
protein_family
SHQ1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19383767
uniprot
proteins
pubmed
29178645
uniprot
proteins
pubmed
34542157
uniprot
proteins
sequence_length
577
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19383767}. Nucleus, nucleoplasm {ECO:0000269|PubMed:19383767}. Note=May at least partially shuttle between cytosol and nucleoplasm. In the nucleoplasm, exhibits a granular pattern, but is excluded from nucleoli and Cajal bodies. Absent from most H/ACA-box RNA transcription sites.
uniprot
proteins