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    UBLCP1 ubiquitin like domain containing CTD phosphatase 1 [ Homo sapiens (human) ]

    Gene ID: 134510, updated on 14-Nov-2024

    Summary

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    Official Symbol
    UBLCP1provided by HGNC
    Official Full Name
    ubiquitin like domain containing CTD phosphatase 1provided by HGNC
    Primary source
    HGNC:HGNC:28110
    See related
    Ensembl:ENSG00000164332 MIM:609867; AllianceGenome:HGNC:28110
    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
    CPUB1
    Summary
    Enables proteasome regulatory particle binding activity and protein serine/threonine phosphatase activity. Involved in negative regulation of ATP-dependent activity and regulation of proteasome assembly. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 19.2), brain (RPKM 17.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBLCP1 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (159263290..159286036)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (159791779..159814534)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (158690298..158713044)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ring finger protein 145 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:158634672-158635327 Neighboring gene uncharacterized LOC107986468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23544 Neighboring gene small nucleolar RNA SNORA68 Neighboring gene long intergenic non-protein coding RNA 1932 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:158689523-158690030 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:158690031-158690538 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:158728900-158730099 Neighboring gene uncharacterized LOC105377683 Neighboring gene RNA, U4atac small nuclear 2, pseudogene Neighboring gene interleukin 12B

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity.
      Title: A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity.
    2. Study provides evidence that Rpn1-Ser361 is a prevalent phosphosite that is required for proper assembly and activity of the 26S proteasome and identified multiple kinases, including PIM1/2/3, that can phosphorylate Rpn1-S361 and have demonstrated that UBLCP1 is a physiologically relevant phosphatase of this site. Blocking phosphorylation of Rpn1-S361 leads to slowed proliferation and mitochondrial dysfunction.
      Title: Reversible phosphorylation of Rpn1 regulates 26S proteasome assembly and function.
    3. Data show that UBLCP1 selectively binds to the 26S proteasome non-ATPase regulatory subunit 13 (19S regulatory particle) in regulating proteasome assembly.
      Title: Phosphatase UBLCP1 controls proteasome assembly.
    4. the high-resolution solution structure of the UBL domain of human UBLCP1 and its interaction with Rpn1
      Title: Solution structure and Rpn1 interaction of the UBL domain of human RNA polymerase II C-terminal domain phosphatase.
    5. UBLCP1 is a 26S proteasome phosphatase that regulates nuclear proteasome activity
      Title: UBLCP1 is a 26S proteasome phosphatase that regulates nuclear proteasome activity.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25267, MGC10067

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MAP kinase serine/threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calmodulin-dependent protein phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AXS140 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables myosin phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables proteasome regulatory particle binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of ATP-dependent activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of proteasome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of proteasome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleolus 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
    ubiquitin-like domain-containing CTD phosphatase 1
    Names
    CTD phosphatase-like with ubiquitin domain 1
    CTD-like phosphatase domain-containing protein
    nuclear proteasome inhibitor UBLCP1
    NP_659486.2

    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.

    mRNA and Protein(s)

    1. NM_145049.5 → NP_659486.2  ubiquitin-like domain-containing CTD phosphatase 1

      See identical proteins and their annotated locations for NP_659486.2

      Status: VALIDATED

      Source sequence(s)
      AC011418, AY444562, DA930581
      Consensus CDS
      CCDS4345.1
      UniProtKB/Swiss-Prot
      D3DQJ7, Q8WVY7, Q96DK5
      Related
      ENSP00000296786.6, ENST00000296786.8
      Conserved Domains (2) summary
      TIGR02245
      Location:117 → 311
      HAD_IIID1; HAD-superfamily subfamily IIID hydrolase, TIGR02245
      cd01813
      Location:3 → 77
      Ubl_UBLCP1; ubiquitin-like (Ubl) domain found in ubiquitin-like domain-containing CTD phosphatase 1 (UBLCP1) and similar proteins

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      159263290..159286036
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      159791779..159814534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVY7.2 GenPept UniProtKB/Swiss-Prot:Q8WVY7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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