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USB1 Gene

protein-coding   GIFtS: 43
GCID: GC16P058033

U6 SnRNA Biogenesis 1

(Previous name: chromosome 16 open reading frame 57)
(Previous symbol: C16orf57)
  See USB1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
U6 SnRNA Biogenesis 11 2     Poikiloderma With Neutropenia1
C16orf571 2 3 5     HVSL12
HVSL Motif Containing 11 2     Mpn12
Mutated In Poikiloderma With Neutropenia Protein 11 2     Putative U6 SnRNA Phosphodiesterase2
U Six Biogenesis 11 2     U6 SnRNA Phosphodiesterase2
hUsb12 3     UPF0406 Protein C16orf572
PN2 5     EC 3.1.4.-3
Chromosome 16 Open Reading Frame 571     

External Ids:    HGNC: 257921   Entrez Gene: 796502   Ensembl: ENSG000001030057   OMIM: 6132765   UniProtKB: Q9BQ653   
ORGUL members:         

Export aliases for USB1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for USB1 Gene:
This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in
this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with
Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product
interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS.
Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. (provided by
RefSeq, Mar 2011)

GeneCards Summary for USB1 Gene:
USB1 (U6 snRNA biogenesis 1) is a protein-coding gene. Diseases associated with USB1 include poikiloderma with neutropenia, and rothmund-thomson syndrome. GO annotations related to this gene include 3'-5'-exoribonuclease activity.

UniProtKB/Swiss-Prot: USB1_HUMAN, Q9BQ65
Function: Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase)
responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the
formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for USB1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSB1 promoter sequence
   Search Chromatin IP Primers for USB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat USB1


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

Entrez Gene cytogenetic band: 16q21   Ensembl cytogenetic band:  16q21   HGNC cytogenetic band: 16q13

USB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USB1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P058033:  view genomic region     (about GC identifiers)

Start:
58,033,450 bp from pter      End:
58,055,527 bp from pter
Size:
22,078 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: USB1_HUMAN, Q9BQ65 (See protein sequence)
Recommended Name: U6 snRNA phosphodiesterase  
Size: 265 amino acids; 30268 Da
1 PDB 3D structure from and Proteopedia for USB1:
4H7W (3D)    
Secondary accessions: B4DWE3 B4DZW5 Q96FZ9 Q9H8X8
Alternative splicing: 3 isoforms:  Q9BQ65-1   Q9BQ65-2   Q9BQ65-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for USB1: NX_Q9BQ65

Explore proteomics data for USB1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See USB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001182231.1  NP_001191840.1  NP_078874.2  

    ENSEMBL proteins: 
     ENSP00000454928   ENSP00000219281   ENSP00000446143   ENSP00000409792   ENSP00000457322  
     ENSP00000454692   ENSP00000457302  

    USB1 Human Recombinant Protein Products:

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    OriGene MassSpec for USB1
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    Novus Biologicals USB1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for USB1 

    USB1 Antibody Products:

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    Search for Antibodies for USB1 at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for USB1
    LSBio Antibodies in human, mouse, rat for USB1

    USB1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for USB1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for USB1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR027521 Usb1

    Graphical View of Domain Structure for InterPro Entry Q9BQ65

    ProtoNet protein and cluster: Q9BQ65

    UniProtKB/Swiss-Prot: USB1_HUMAN, Q9BQ65
    Similarity: Belongs to the USB1 family


    Find genes that share domains with USB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: USB1_HUMAN, Q9BQ65
    Function: Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase)
    responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the
    formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate

         Enzyme Number (IUBMB): EC 3.1.4.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00001753'-5'-exoribonuclease activity IDA--
    GO:0004518nuclease activity ----
         
    Find genes that share ontologies with USB1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for USB1:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for USB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for USB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USB1

    miRNA
    Products:
        
    miRTarBase miRNAs that target USB1:
    hsa-mir-26b-5p (MIRT028794), hsa-mir-26a-5p (MIRT050173)

    Block miRNA regulation of human, mouse, rat USB1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate USB1
    SwitchGear 3'UTR luciferase reporter plasmidUSB1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat USB1

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    GenScript Custom all cDNA clones Services for USB1
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USB1

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    USB1_HUMAN, Q9BQ65: Nucleus

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--

    Find genes that share ontologies with USB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for USB1
    Interactions:

        Search GeneGlobe Interaction Network for USB1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for USB1 (Q9BQ652, 3 ENSP000002192814) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD4Q134852, 3, ENSP000003415514MINT-61983 I2D: score=3 STRING: ENSP00000341551
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0008380RNA splicing IMP--
    GO:0034477U6 snRNA 3'-end processing IMP--
    GO:0090503RNA phosphodiester bond hydrolysis, exonucleolytic IDA--

    Find genes that share ontologies with USB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for USB1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for USB1 gene (3 alternative transcripts): 
    NM_001195302.1  NM_001204911.1  NM_024598.3  

    Unigene Cluster for USB1:

    U6 snRNA biogenesis 1
    Hs.408702  [show with all ESTs]
    Unigene Representative Sequence: NM_001204911
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561743 ENST00000219281(uc002emz.3 uc010vib.2) ENST00000539737
    ENST00000423271 ENST00000561568 ENST00000565662 ENST00000566292 ENST00000569252(uc010vic.1)
    ENST00000562534 ENST00000568848 ENST00000563149(uc002emy.3 uc010via.2)
    ENST00000564387 ENST00000563207 ENST00000565151 ENST00000566082
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat USB1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate USB1
    SwitchGear 3'UTR luciferase reporter plasmidUSB1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for USB1
    Predesigned siRNA for gene silencing in human, mouse, rat USB1
    Clone
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    OriGene clones in human, mouse for USB1 (see all 12)
    OriGene ORF clones in mouse, rat for USB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for USB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USB1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for USB1
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat USB1
      QuantiTect SYBR Green Assays in human, mouse, rat USB1
      QuantiFast Probe-based Assays in human, mouse, rat USB1

    Additional mRNA sequence: 

    AK023216.1 AK124443.1 AK293220.1 AK298473.1 AK301494.1 AK303121.1 BC004415.1 BC006291.2 
    BC007774.2 BC010099.2 BC021554.1 

    15 DOTS entries:

    DT.113937  DT.95134812  DT.95134814  DT.70101689  DT.100707681  DT.91645193  DT.100711352  DT.100797548 
    DT.92450672  DT.99981502  DT.100740697  DT.100797546  DT.75113607  DT.99971494  DT.92450665 

    Selected AceView cDNA sequences (see all 202):

    BQ690346 AL537013 CR622733 AI278903 BM543924 BQ882326 AW305204 BX401638 
    BE551611 CA428239 BC010099 BQ069736 BM795090 AI739249 BQ223186 AI192402 
    CB529314 BQ029023 H13031 AI281175 BI907485 AL514306 BU149231 BX106523 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for USB1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b
    SP1:                    -                 -           -     -     -     -     -                                       
    SP2:                    -                 -           -     -     -     -     -     -                                 
    SP3:                    -           -     -     -     -     -     -     -     -     -     -                           
    SP4:                    -                 -                                                                           
    SP5:                    -                 -           -                                                               


    ECgene alternative splicing isoforms for USB1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    USB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    USB1 Expression
    About this image

    USB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    USB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.408702
        Custom PCR Arrays for USB1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USB1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for USB1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usb11 , 5 expressed sequence AA9604365
    U6 snRNA biogenesis 11
    83.4(n)1
    81.13(a)1
      8 (47.12 cM)5
    1019851  NM_133954.21  NP_598715.21 
     953322925 
    chicken
    (Gallus gallus)
    Aves C11H16ORF571 chromosome 11 open reading frame, human C16orf57 71.55(n)
    65.97(a)
      415628  XM_413994.4  XP_413994.4 
    lizard
    (Anolis carolinensis)
    Reptilia USB16
    U6 snRNA biogenesis 1
    64(a)
    1 ↔ 1
    GL344621.1(65-7410)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC529442 hypothetical protein MGC52944 74.2(n)    BC043765.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CK361000.12   -- 70.67(n)    CK361000.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG167901 CG16790 51.37(n)
    42.78(a)
      41155  NM_141654.2  NP_649911.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G511701 AT5G51170 45.49(n)
    39.06(a)
      835191  NM_124496.3  NP_568753.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g06510001 Os02g0651000 40.79(n)
    32.17(a)
      4330165  NM_001054125.1  NP_001047590.1 


    ENSEMBL Gene Tree for USB1 (if available)
    TreeFam Gene Tree for USB1 (if available)

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

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for USB1 (see all 401)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3692141041,2
    C--58038944(+) GAGGC-/AGAGAGA 3 -- int10--------
    rs354054031,2
    C--58040257(+) GTTTC-/AAAAAA 3 -- int11Minor allele frequency- A:0.00NA 2
    rs349707401,2
    C--58040387(+) CGAAA-/CCCCCA 3 -- int11Minor allele frequency- C:0.00NA 2
    rs562624371,2
    C--58042358(+) TTTTT-/TGTGAG 3 -- int11Minor allele frequency- T:0.00NA 2
    rs113607081,2
    C--58044519(+) GTTCT-/GTGGAC 3 -- int12Minor allele frequency- G:0.25NA CSA 4
    rs777528251,2
    C--58044594(+) TAGGGC/TGCCAG 3 -- int13Minor allele frequency- T:0.05CSA NA EA 242
    rs1122275331,2
    C--58052315(+) TAGAGG/ACGGGG 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs587822581,2
    C--58054467(+) TCTCTCTCT/-  
            
    TCCTC
    2 -- ut311Minor allele frequency- -:0.00NA 2
    rs1422760221,2
    --59047198(+) ATTGCG/TATAGT 3 -- int10--------
    rs1512479771,2
    --59047344(+) TCTTAA/GATGCT 3 -- int10--------

    HapMap Linkage Disequilibrium report for USB1 (58033450 - 58055527 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for USB1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing USB1
    DNA2.0 Custom Variant and Variant Library Synthesis for USB1

    (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.)
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    OMIM gene information: 613276   
    OMIM disorders: 604173  
    UniProtKB/Swiss-Prot: USB1_HUMAN, Q9BQ65
  • Poikiloderma with neutropenia (PN) [MIM:604173]: A genodermatosis characterized by poikiloderma,
    pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the
    first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and
    hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but
    alopecia and leukoplakia are distinctively absent. Patients have recurrent pneumonias that usually result in
    reactive airway disease and/or chronic cough. One of the most important extracutaneous symptoms is an increased
    susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and
    to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into
    myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows
    phenotypic overlap with Rothmund-Thomson syndrome. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 3 diseases for USB1:    
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    poikiloderma with neutropenia    rothmund-thomson syndrome    dyskeratosis congenita, autosomal recessive 4


    Find genes that share disorders with USB1           About GenesLikeMe


    Export disorders for USB1 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)
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    PubMed articles for USB1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with USB1)
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    world of online information

    1. C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification. (PubMed id 22899009)1, 2, 3 Mroczek S.... Dziembowski A. (Genes Dev. 2012)
    2. Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. (PubMed id 20503306)1, 2, 3 Tanaka A....McGrath J. (Am. J. Med. Genet. A 2010)
    3. Targeted next-generation sequencing appoints c16orf57 as clericuzio- type poikiloderma with neutropenia gene. (PubMed id 20004881)1, 2, 3 Volpi L.... Larizza L. (Am. J. Hum. Genet. 2010)
    4. Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. (PubMed id 23190533)1, 2 Hilcenko C....Warren A.J. (Blood 2013)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The Mpn1 RNA exonuclease: cellular functions and implication in disease. (PubMed id 23684637)1 Shchepachev V. and Azzalin C.M. (FEBS Lett. 2013)
    8. Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. (PubMed id 22269211)1 Colombo E.A....Larizza L. (Orphanet J Rare Dis 2012)
    9. Systematic search for neutropenia should be part of the first screening in patients with poikiloderma. (PubMed id 21872685)1 Piard J....Thauvin-Robinet C. (Eur J Med Genet 2012)
    10. Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA. (PubMed id 23022480)1 Shchepachev V....Azzalin C.M. (Cell Rep 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79650 HGNC: 25792 AceView: FLJ13154 Ensembl:ENSG00000103005 euGenes: HUgn79650
    ECgene: USB1 H-InvDB: USB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for USB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for USB1 gene:
    Search GeneIP for patents involving USB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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