Seroatlas · Human Serome Atlas

SHQ1

Protein SHQ1 homolog

Also known as: FLJ10539, SHQ1_HUMAN, Shq1p

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q6PI26
Gene
SHQ1
Ensembl
ENSG00000144736
Chromosome
3
Canonical length
577 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

577 residues, UniProt reviewed canonical sequence.

>Q6PI26|SHQ1
     1  MLTPAFDLSQ DPDFLTIAIR VPYARVSEFD VYFEGSDFKF YAKPYFLRLT LPGRIVENGS
    61  EQGSYDADKG IFTIRLPKET PGQHFEGLNM LTALLAPRKS RTAKPLVEEI GASEIPEEVV
   121  DDEEFDWEIE QTPCEEVSES ALNPQCHYGF GNLRSGVLQR LQDELSDVID IKDPDFTPAA
   181  ERRQKRLAAE LAKFDPDHYL ADFFEDEAIE QILKYNPWWT DKYSKMMAFL EKSQEQENHA
   241  TLVSFSEEEK YQLRKFVNKS YLLDKRACRQ VCYSLIDILL AYCYETRVTE GEKNVESAWN
   301  IRKLSPTLCW FETWTNVHDI MVSFGRRVLC YPLYRHFKLV MKAYRDTIKI LQLGKSAVLK
   361  CLLDIHKIFQ ENDPAYILND LYISDYCVWI QKVKSKKLAA LAEALKEVSL TKAQLGLELE
   421  ELEAAALLVQ EEETALKAAH SVSGQQTLCS SSEASDSEDS DSSVSSGNED SGSDSEQDEL
   481  KDSPSETVSS LQGPFLEESS AFLIVDGGVR RNTAIQESDA SQGKPLASSW PLGVSGPLIE
   541  ELGEQLKTTV QVSEPKGTTA VNRSNIQERD GCQTPNN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SHQ1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
14 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 14 nTPM
  • epididymis: 11 nTPM
  • fallopian tube: 10 nTPM
  • heart muscle: 9.4 nTPM
  • testis: 9.3 nTPM
  • tonsil: 9.3 nTPM

Single-cell type

  • differentiating spermatogonia: 86 nCPM
  • adrenal cortex cells: 85 nCPM
  • undifferentiated spermatogonia: 71 nCPM
  • ependymal cells: 57 nCPM
  • neutrophil progenitors: 56 nCPM
  • choroid plexus epithelial cells: 54 nCPM

Immune cell

  • NK-cell: 24 nTPM
  • MAIT T-cell: 19 nTPM
  • naive CD4 T-cell: 18 nTPM
  • plasmacytoid DC: 18 nTPM
  • memory CD4 T-cell: 16 nTPM
  • memory CD8 T-cell: 16 nTPM

Brain region

  • white matter: 27 nTPM
  • basal ganglia: 27 nTPM
  • thalamus: 23 nTPM
  • cerebral cortex: 21 nTPM
  • pons: 21 nTPM
  • amygdala: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SHQ1.

Disease | AllUniProt

Conditions SHQ1 is implicated in, by any mechanism.

  • Dystonia 35, childhood-onset (DYT35) MIM:619921
  • Neurodevelopmental disorder with dystonia and seizures (NEDDS) MIM:619922

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 146 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neurodevelopmental disorder with dystonia and seizures

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.13
gnomAD pLI
0
gnomAD missense Z
-0.43
DepMap mean gene effect
-0.69
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SHQ1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SHQ1 as an antibody target. Whether an autoantibody or antibody against SHQ1 could matter depends on whether native SHQ1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SHQ1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SHQ1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SHQ1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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