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    SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 [ Homo sapiens (human) ]

    Gene ID: 154007, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SNRNP48provided by HGNC
    Official Full Name
    small nuclear ribonucleoprotein U11/U12 subunit 48provided by HGNC
    Primary source
    HGNC:HGNC:21368
    See related
    Ensembl:ENSG00000168566 AllianceGenome:HGNC:21368
    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
    C6orf151; dJ512B11.2; dJ336K20B.1
    Summary
    Predicted to enable metal ion binding activity. Predicted to be involved in RNA splicing. Located in cytosol and nucleoplasm. Part of U12-type spliceosomal complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 3.8), ovary (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SNRNP48 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (7590198..7611967)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (7459234..7481028)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7590431..7612200)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7526687-7527188 Neighboring gene IDH1 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:7532914-7533459 Neighboring gene VISTA enhancer hs2285 Neighboring gene DSP antisense RNA 1 Neighboring gene VISTA enhancer hs2191 Neighboring gene desmoplakin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7590188-7590927 Neighboring gene Sharpr-MPRA regulatory region 13737 Neighboring gene MPRA-validated peak5647 silencer Neighboring gene ribosomal protein L29 pseudogene 1 Neighboring gene uncharacterized LOC105374906 Neighboring gene NANOG hESC enhancer GRCh37_chr6:7685011-7685581 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:7696296-7696460 Neighboring gene Sharpr-MPRA regulatory region 4297

    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. Solution structure of the U11-48K CHHC zinc-finger domain that specifically binds the 5' splice site of U12-type introns. Tidow H, et al. Structure, 2009 Feb 13. PMID 19217400
    2. The U11-48K protein contacts the 5' splice site of U12-type introns and the U11-59K protein. Turunen JJ, et al. Mol Cell Biol, 2008 May. PMID 18347052, Free PMC Article
    3. Severe acute respiratory syndrome coronavirus nonstructural protein 2 interacts with a host protein complex involved in mitochondrial biogenesis and intracellular signaling. Cornillez-Ty CT, et al. J Virol, 2009 Oct. PMID 19640993, Free PMC Article
    4. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. Will CL, et al. RNA, 2004 Jun. PMID 15146077, Free PMC Article
    5. SETD1A Methyltransferase Is Physically and Functionally Linked to the DNA Damage Repair Protein RAD18. Alsulami M, et al. Mol Cell Proteomics, 2019 Jul. PMID 31076518, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32234, MGC138904, MGC138905

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of U12-type spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U12-type spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    U11/U12 small nuclear ribonucleoprotein 48 kDa protein
    Names
    U11-48K
    U11/U12 snRNP 48 kDa protein
    U11/U12 snRNP 48K
    U11/U12-48K
    small nuclear ribonucleoprotein 48kDa (U11/U12)
    small nuclear ribonucleoprotein, U11/U12 48KDa subunit

    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_152551.4 → NP_689764.3  U11/U12 small nuclear ribonucleoprotein 48 kDa protein

      See identical proteins and their annotated locations for NP_689764.3

      Status: VALIDATED

      Source sequence(s)
      AL031058, AL390026, AL832462, BC062458
      Consensus CDS
      CCDS4502.1
      UniProtKB/Swiss-Prot
      A8K8P4, Q14C91, Q5T339, Q5THM1, Q5THM2, Q6IEG0, Q96MK1
      Related
      ENSP00000339834.4, ENST00000342415.6
      Conserved Domains (1) summary
      pfam05253
      Location:57 → 79
      zf-U11-48K; U11-48K-like CHHC zinc finger

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      7590198..7611967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514312.4 → XP_011512614.1  U11/U12 small nuclear ribonucleoprotein 48 kDa protein isoform X1

      Conserved Domains (1) summary
      pfam05253
      Location:35 → 58
      zf-U11-48K; U11-48K-like CHHC zinc finger

    2. XM_047418238.1 → XP_047274194.1  U11/U12 small nuclear ribonucleoprotein 48 kDa protein isoform X2

      Related
      ENSP00000489245.1, ENST00000634363.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      7459234..7481028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354341.1 → XP_054210316.1  U11/U12 small nuclear ribonucleoprotein 48 kDa protein isoform X1

    2. XM_054354342.1 → XP_054210317.1  U11/U12 small nuclear ribonucleoprotein 48 kDa protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IEG0.2 GenPept UniProtKB/Swiss-Prot:Q6IEG0

    Gene LinkOut

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