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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SHQ1 Gene

protein-coding   GIFtS: 46
GCID: GC03M072883

SHQ1, H/ACA ribonucleoprotein assembly factor

(Previous name: SHQ1 homolog (S. cerevisiae) )
 Explore 2 diseases affiliated with
SHQ1 via our new
 Human Malady Compendium 
Biological research products
for SHQ1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SHQ1, H/ACA Ribonucleoprotein Assembly Factor1 2
Shq1p1 2
FLJ105391
SHQ1 Homolog (S. Cerevisiae)1
Protein SHQ1 Homolog2
SHQ1 Homolog2

External Ids:    HGNC: 255431   Entrez Gene: 551642   Ensembl: ENSG000001447367   OMIM: 6136635   UniProtKB: Q6PI263   

Export aliases for SHQ1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SHQ1:
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)

UniProtKB/Swiss-Prot: SHQ1_HUMAN, Q6PI26
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022459.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SHQ1 gene promoter:
         Nkx3-1   Nkx2-2   GCNF   Nkx3-1 v1   CREB   Nkx3-1 v2   deltaCREB   GCNF-1   Nkx3-1 v3   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSHQ1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SHQ1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SHQ1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p13   Ensembl cytogenetic band:  3p13   HGNC cytogenetic band: 3p13

SHQ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SHQ1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M072883:  view genomic region     (about GC identifiers)

Start:
72,798,428 bp from pter      End:
72,911,065 bp from pter
Size:
112,638 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SHQ1_HUMAN, Q6PI26 (See protein sequence)
Recommended Name: Protein SHQ1 homolog  
Size: 577 amino acids; 65125 Da
Subunit: Directly interacts with DKC1 alone, but not in the context of the core trimer composed of DKC1, NOP10 and
NHP2, nor in the presence of NAF1. Does not interact with NAF1
Subcellular location: Cytoplasm, cytosol. Nucleus, nucleoplasm. 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
Sequence caution: Sequence=BAA91669.1; Type=Frameshift; Positions=79; Sequence=BAB14947.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: Q6MZJ4 Q7Z748 Q9H7E5 Q9NVS8

Explore the universe of human proteins at neXtProt for SHQ1: NX_Q6PI26

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6PI26

  • SHQ1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060600.2  
    ENSEMBL proteins: 
     ENSP00000315182   ENSP00000402447   ENSP00000417452   ENSP00000418398   ENSP00000417739  

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    Uscn Proteins for SHQ1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm IDA19383767
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IEA--


    SHQ1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SHQ1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR007009 SHQ1
     IPR008978 HSP20-like_chaperone
     IPR007052 CS-like_domain

    Graphical View of Domain Structure for InterPro Entry Q6PI26

    ProtoNet protein and cluster: Q6PI26

    UniProtKB/Swiss-Prot: SHQ1_HUMAN, Q6PI26
    Similarity: Belongs to the SHQ1 family
    Similarity: Contains 1 CS domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SHQ1_HUMAN, Q6PI26
    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

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19383767


    SHQ1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for SHQ1:
     G0/1 arrest  Increased G1 DNA content 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SHQ1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/23 Interacting proteins for SHQ1 (Q6PI263 ENSP000003151824) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WDR48Q8TAF33, ENSP000003074914I2D: score=2 STRING: ENSP00000307491
    DKC1O608323, ENSP000003585634I2D: score=1 STRING: ENSP00000358563
    MRTO4Q9UKD23, ENSP000003643204I2D: score=1 STRING: ENSP00000364320
    NHP2Q9NX243, ENSP000002746064I2D: score=1 STRING: ENSP00000274606
    SPTLC1O152693I2D: score=5 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0022618ribonucleoprotein complex assembly IDA19383767
    GO:0043065positive regulation of apoptotic process IDA--
    GO:2000233negative regulation of rRNA processing IDA--


    SHQ1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SHQ1
    Search CenterWatch for drugs/clinical trials and news about SHQ1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SHQ1 gene: 
    NM_018130.2  

    Unigene Cluster for SHQ1:

    SHQ1, H/ACA ribonucleoprotein assembly factor
    Hs.606584  [show with all ESTs]
    Unigene Representative Sequence: BX641074
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468371 ENST00000325599(uc003dpf.3 uc010hod.3) ENST00000444040
    ENST00000463369 ENST00000475558 ENST00000468347 ENST00000482785 ENST00000471526


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    Additional cDNA sequence: 

    AK001401.1 AK092962.1 AK296789.1 BC017204.2 BC017274.2 BC025270.1 BC032671.1 BC039830.1 
    BC047879.2 BX641074.1 

    9 DOTS entries:

    DT.91718956  DT.445698  DT.100779511  DT.95117942  DT.100841575  DT.208923  DT.91753157  DT.91850035 
    DT.97841561 

    24/114 AceView cDNA sequences (see all 114):

    BC047879 BG392630 BX645375 BM786501 AU117970 AI151469 CR602146 BC039830 
    AW664464 BX281969 BM771386 CB216026 AI570146 BC032671 BM550717 AI476821 
    BX370096 BM771281 AK092962 BU161478 BC017204 BX393619 AL557000 BC017274 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SHQ1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                    -                                                     -               
    SP2:                                                                          -               
    SP3:                    -     -                                                               
    SP4:                                                                                          


    ECgene alternative splicing isoforms for SHQ1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SHQ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTCACGAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SHQ1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SHQ1

    SOURCE GeneReport for Unigene cluster: Hs.606584
        SABiosciences Custom PCR Arrays for SHQ1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHQ1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SHQ1 gene from 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Shq11 , 5 SHQ1 homolog (S. cerevisiae)1, 5 79.73(n)1
    77.46(a)1
      6 (46.82 cM)5
    721711  NM_181590.41  NP_853621.21 
     1005730815 
    chicken
    (Gallus gallus)
    Aves SHQ11 SHQ1 homolog (S. cerevisiae) 68.61(n)
    64.73(a)
      416096  XM_414429.3  XP_414429.3 
    lizard
    (Anolis carolinensis)
    Reptilia SHQ16
    --
    70(a)
    1 ↔ 1
    2(179321871-179330277)
    zebrafish
    (Danio rerio)
    Actinopterygii shq11 SHQ1 homolog (S. cerevisiae) 58.42(n)
    55.89(a)
      567601  NM_001080600.1  NP_001074069.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG100556
    --
    19(a)
    1 ↔ 1
    3R(3009823-3012375)
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y48A5A.11 Protein Y48A5A.1 46.96(n)
    38.92(a)
      176997  NM_067749.2  NP_500150.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SHQ1(YIL104C)4
    SHQ11
    Chaperone protein required for the assembly of box H/ACA snoRNPs and thus for pre-rRNA processing, forms a complex with Naf1p and interacts with H/ACA snoRNP components Nhp2p and Cbf5p; homology with known Hsp90p cochaperones less4
    Shq1p1
    44.97(n)1
    30.17(a)1
      9(171505-169982)4
    8547021, 4  NP_012162.31  NP_012162.14 


    ENSEMBL Gene Tree for SHQ1 (if available)
    TreeFam Gene Tree for SHQ1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SHQ1 gene

    SHQ1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SHQ1
    PGOHUM00000238489


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1776 NCBI SNPs in SHQ1 are shown (see all 1776    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1429777451,2
    --72798040(+) GGGTGA/TGGCTG 1 -- ds50010--------
    rs1875083051,2
    --72798101(+) ACCCTA/GTCTCA 1 -- ds50010--------
    rs1923328451,2
    --72798116(+) CACACA/GCACAC 1 -- ds50010--------
    rs340023441,2
    C,--72798122(+) ACACG-/CACACAC 1 -- ds50010--------
    rs2020409231,2
    --72798148(+) CACAC-/ACAG  
            
    GCAGA
    1 -- ds50010--------
    rs1855586411,2
    --72798358(+) ACCTAA/CCATAT 1 -- ds50010--------
    rs1877535971,2
    --72798413(+) GCATAA/CGTCCA 1 -- ds50010--------
    rs1152186581,2
    F,--72798414(+) CATACG/ATCCAC 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1409460421,2
    --72798653(+) TATGAC/TTCAAT 1 -- ut310--------
    rs1463204481,2
    --72798681(+) ACATGA/CAAACT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SHQ1 (72798428 - 72911065 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SHQ1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SHQ1
    DNA2.0 Custom Variant and Variant Library Synthesis for SHQ1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SHQ1 for disorders           About GeneDecksing

    OMIM gene information: 613663    OMIM disorders: --

    2 diseases for SHQ1:    About MalaCards
    dyskeratosis congenita    dyskeratosis

    1 disease from the University of Copenhagen DISEASES database for SHQ1:
    Dyskeratosis congenita

    Export disorders for SHQ1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SHQ1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with SHQ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs. (PubMed id 19383767)1, 2 Grozdanov P.N....Meier U.T. (2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. GRIM-1, a novel growth suppressor, inhibits rRNA matur ation by suppressing small nucleolar RNAs. (PubMed id 21931644)1 Nallar S.C....Kalvakolanu D.V. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. The H/ACA RNP assembly factor SHQ1 functions as an RN A mimic. (PubMed id 22085966)1 Walbott H....Leulliot N. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    10. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55164 HGNC: 25543 AceView: FLJ10539 Ensembl:ENSG00000144736 euGenes: HUgn55164
    ECgene: SHQ1 H-InvDB: SHQ1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for SHQ1 Pharmacogenomics, SNPs, Pathways

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