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    USB1 U6 snRNA biogenesis phosphodiesterase 1 [ Homo sapiens (human) ]

    Gene ID: 79650, updated on 2-Nov-2024

    Summary

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    Official Symbol
    USB1provided by HGNC
    Official Full Name
    U6 snRNA biogenesis phosphodiesterase 1provided by HGNC
    Primary source
    HGNC:HGNC:25792
    See related
    Ensembl:ENSG00000103005 MIM:613276; AllianceGenome:HGNC:25792
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PN; Mpn1; HVSL1; hMpn1; hUsb1; C16orf57
    Summary
    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]
    Expression
    Ubiquitous expression in appendix (RPKM 7.3), bone marrow (RPKM 6.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See USB1 in Genome Data Viewer
    Location:
    16q21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (57999603..58021618)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (63794892..63816894)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (58033507..58055522)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57917491-57918038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57918039-57918586 Neighboring gene cyclic nucleotide gated channel subunit beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57945302-57946008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57972707-57973534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57973535-57974362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57998489-57998988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10918 Neighboring gene sperm microtubule inner protein 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7540 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43822 Neighboring gene Sharpr-MPRA regulatory region 3942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10920 Neighboring gene zinc finger protein 319 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:58046115-58046647 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:58046648-58047179 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58058267-58058854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58058855-58059440 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:58059673-58060222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58060773-58061322 Neighboring gene matrix metallopeptidase 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:58119688-58120378 Neighboring gene TIPIN pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Chinese nontwin sisters suffer from poikiloderma with neutropenia harboring novel compound heterozygous USB1 gene mutations. Yan C, et al. J Dermatol, 2023 Sep. PMID 36938655
    2. Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Volpi L, et al. Am J Hum Genet, 2010 Jan. PMID 20004881, Free PMC Article
    3. Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. Tanaka A, et al. Am J Med Genet A, 2010 Jun. PMID 20503306
    4. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Arnold AW, et al. Br J Dermatol, 2010 Oct. PMID 20618321
    5. Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Concolino D, et al. Am J Med Genet A, 2010 Oct. PMID 20734427

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type.
      Title: Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type.
    2. Chinese nontwin sisters suffer from poikiloderma with neutropenia harboring novel compound heterozygous USB1 gene mutations.
      Title: Chinese nontwin sisters suffer from poikiloderma with neutropenia harboring novel compound heterozygous USB1 gene mutations.
    3. USB1 is a miRNA deadenylase that regulates hematopoietic development.
      Title: USB1 is a miRNA deadenylase that regulates hematopoietic development.
    4. Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
      Title: Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
    5. Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia.
      Title: Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia.
    6. Clericuzio-type poikiloderma with neutropenia in a patient from India.
      Title: Clericuzio-type poikiloderma with neutropenia in a patient from India.
    7. Here we investigate the molecular basis for the evolution of Usb1 CPDase activity. We examine the structure and function of Usb1 from Kluyveromyces marxianus, which shares 25 and 19% sequence identity to the S. cerevisiae and Homo sapiens orthologs of Usb1, respectively
      Title: Structural basis for the evolution of cyclic phosphodiesterase activity in the U6 snRNA exoribonuclease Usb1.
    8. Data show that U6 snRNA phosphodiesterase (Usb1) removes 3' adenosines with 20-fold greater efficiency than uridines.
      Title: Structural and mechanistic basis for preferential deadenylation of U6 snRNA by Usb1.
    9. A novel homozygous deletion of a 1-bp (c.161delC, p.P54RfsX60) in the C16orf57gene, was presumed to be causative of poikiloderma with neutropenia. The patient's asymptomatic consanguineous parents were heterozygotes for this mutation.
      Title: Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.
    10. this paper describes USB1 mutations characterized in four Moroccan patients out of three unrelated consanguinous families
      Title: Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Poikiloderma with neutropenia
    MedGen: C1858723 OMIM: 604173 GeneReviews: Poikiloderma with Neutropenia
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13154

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5'-RNA exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3'-5'-RNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in U6 snRNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in U6 snRNA 3'-end processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in U6 snRNA 3'-end processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in snRNA 3'-end processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    U6 snRNA phosphodiesterase 1
    Names
    3'-5' RNA exonuclease USB1
    HVSL motif containing 1
    U six biogenesis 1
    U6 snRNA biogenesis 1
    U6 snRNA phosphodiesterase
    UPF0406 protein C16orf57
    mutated in PN protein 1
    mutated in poikiloderma with neutropenia protein 1
    putative U6 snRNA phosphodiesterase
    NP_001182231.1
    NP_001191840.1
    NP_001317497.1
    NP_001317498.1
    NP_078874.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027698.1 RefSeqGene

      Range
      5001..25251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_352

    mRNA and Protein(s)

    1. NM_001195302.2 → NP_001182231.1  U6 snRNA phosphodiesterase 1 isoform 2

      See identical proteins and their annotated locations for NP_001182231.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC012182, AK303121, DB364698, DC363309
      Consensus CDS
      CCDS55998.1
      UniProtKB/TrEMBL
      H3BTT8
      Related
      ENSP00000446143.2, ENST00000539737.6
      Conserved Domains (1) summary
      pfam09749
      Location:44 → 245
      HVSL; uncharacterized conserved protein

    2. NM_001204911.2 → NP_001191840.1  U6 snRNA phosphodiesterase 1 isoform 3

      See identical proteins and their annotated locations for NP_001191840.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons from the 3' end, and contains an alternate 3' terminal exon compared to variant 1. This results in a shorter isofom (3) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC010543, AK301494, BF733890, BI910866, BQ223186, BX117268, DB382938, DC380401
      Consensus CDS
      CCDS55997.1
      UniProtKB/TrEMBL
      A0A8V8TLQ0
      Related
      ENSP00000409792.3, ENST00000423271.8
      Conserved Domains (1) summary
      pfam09749
      Location:44 → 151
      HVSL; uncharacterized conserved protein

    3. NM_001330568.2 → NP_001317497.1  U6 snRNA phosphodiesterase 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' terminal exon, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC012182, BC007774, DC386004
      Consensus CDS
      CCDS81991.1
      UniProtKB/TrEMBL
      H3BNM8, H3BTT8
      Related
      ENSP00000454928.1, ENST00000561743.5
      Conserved Domains (1) summary
      pfam09749
      Location:1 → 212
      HVSL; uncharacterized conserved protein

    4. NM_001330569.2 → NP_001317498.1  U6 snRNA phosphodiesterase 1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks several exons in the 3' coding region, and includes an alternate 3' terminal exon, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC010543
      Consensus CDS
      CCDS81990.1
      UniProtKB/TrEMBL
      A0A8V8TNL4, H3BN52
      Related
      ENSP00000454692.1, ENST00000563149.2
      Conserved Domains (1) summary
      pfam09749
      Location:44 → 149
      HVSL; uncharacterized conserved protein

    5. NM_024598.4 → NP_078874.2  U6 snRNA phosphodiesterase 1 isoform 1

      See identical proteins and their annotated locations for NP_078874.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC012182, BC004415, DB364698, DC363309
      Consensus CDS
      CCDS10791.1
      UniProtKB/Swiss-Prot
      B4DWE3, B4DZW5, Q96FZ9, Q9BQ65, Q9H8X8
      UniProtKB/TrEMBL
      H3BTT8
      Related
      ENSP00000219281.3, ENST00000219281.8
      Conserved Domains (1) summary
      pfam09749
      Location:44 → 263
      HVSL; Uncharacterized conserved protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      57999603..58021618
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      63794892..63816894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQ65.1 GenPept UniProtKB/Swiss-Prot:Q9BQ65

    Gene LinkOut

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