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    SNRPB small nuclear ribonucleoprotein polypeptides B and B1 [ Homo sapiens (human) ]

    Gene ID: 6628, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SNRPBprovided by HGNC
    Official Full Name
    small nuclear ribonucleoprotein polypeptides B and B1provided by HGNC
    Primary source
    HGNC:HGNC:11153
    See related
    Ensembl:ENSG00000125835 MIM:182282; AllianceGenome:HGNC:11153
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COD; CCMS; SNRPB1; SmB/B'; Sm-B/B'; snRNP-B; SmB/SmB'
    Summary
    The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 101.8), lymph node (RPKM 67.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SNRPB in Genome Data Viewer
    Location:
    20p13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (2461642..2470789, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (2492015..2501159, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2442288..2451435, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2277351-2277884 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:2277885-2278417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17464 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:2310613-2311195 Neighboring gene transglutaminase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2320331-2320831 Neighboring gene transglutaminase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17467 Neighboring gene small nucleolar RNA, C/D box 119 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:2480910-2482109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17469 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:2490387-2490982 Neighboring gene zinc finger protein 343 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12603 Neighboring gene uncharacterized LOC105372504 Neighboring gene transmembrane channel like 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. SNRPB promotes cervical cancer progression through repressing p53 expression. Zhu L, et al. Biomed Pharmacother, 2020 May. PMID 32106364
    2. Spliceosomal UsnRNP biogenesis, structure and function. Will CL, et al. Curr Opin Cell Biol, 2001 Jun. PMID 11343899
    3. [Regulatory effect of small nuclear ribonucleoprotein-associated protein B on proliferation and metastasis of liver cancer cells]. Li YR, et al. Zhonghua Gan Zang Bing Za Zhi, 2022 Jan 20. PMID 35152671
    4. SNRPB-mediated RNA splicing drives tumor cell proliferation and stemness in hepatocellular carcinoma. Zhan YT, et al. Aging (Albany NY), 2020 Dec 3. PMID 33289700, Free PMC Article
    5. Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. Lynch DC, et al. Nat Commun, 2014 Jul 22. PMID 25047197, Free PMC Article

    See all (247) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SNRPB promotes the progression of hepatocellular carcinoma via regulating cell cycle, oxidative stress, and ferroptosis.
      Title: SNRPB promotes the progression of hepatocellular carcinoma via regulating cell cycle, oxidative stress, and ferroptosis.
    2. The splicing factor SNRPB promotes ovarian cancer progression through regulating aberrant exon skipping of POLA1 and BRCA2.
      Title: The splicing factor SNRPB promotes ovarian cancer progression through regulating aberrant exon skipping of POLA1 and BRCA2.
    3. Type I and II PRMTs inversely regulate post-transcriptional intron detention through Sm and CHTOP methylation.
      Title: Type I and II PRMTs inversely regulate post-transcriptional intron detention through Sm and CHTOP methylation.
    4. [Regulatory effect of small nuclear ribonucleoprotein-associated protein B on proliferation and metastasis of liver cancer cells].
      Title: [Regulatory effect of small nuclear ribonucleoprotein-associated protein B on proliferation and metastasis of liver cancer cells].
    5. SNRPB-mediated RNA splicing drives tumor cell proliferation and stemness in hepatocellular carcinoma.
      Title: SNRPB-mediated RNA splicing drives tumor cell proliferation and stemness in hepatocellular carcinoma.
    6. SNRPB promotes cervical cancer progression through repressing p53 expression.
      Title: SNRPB promotes cervical cancer progression through repressing p53 expression.
    7. c-Myc-mediated SNRPB upregulation functions as an oncogene in hepatocellular carcinoma.
      Title: c-Myc-mediated SNRPB upregulation functions as an oncogene in hepatocellular carcinoma.
    8. The study unveils a novel role of SNRPB in facilitating non-small cell lung cancer tumorigenesis via regulation of RAB26 expression.
      Title: SNRPB promotes the tumorigenic potential of NSCLC in part by regulating RAB26.
    9. Our study provides new insights into how RBPs, and specifically SNRPB, regulate gene expression and directly impact GBM development.
      Title: Functional genomics analyses of RNA-binding proteins reveal the splicing regulator SNRPB as an oncogenic candidate in glioblastoma.
    10. These results confirm the specificity of SNRPB mutations in CCMS and provide further evidence for the role of spliceosomal proteins in craniofacial and thoracic development.
      Title: Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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
    Cerebro-costo-mandibular syndrome
    MedGen: C0265342 OMIM: 117650 GeneReviews: Not available
    		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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat U2 snRNPs interact with the HIV-1 Tat cofactor TAT-SF1 and stimulate transcription from the HIV-1 LTR promoter PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables U1 snRNP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables U2 snRNP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone pre-mRNA DCP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables snRNP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables telomerase RNA binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 7-methylguanosine cap hypermethylation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in RNA splicing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in U2-type prespliceosome assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within protein methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spliceosomal snRNP assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SMN-Sm protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U1 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U1 snRNP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U1 snRNP IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of U1 snRNP NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of U12-type spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2 snRNP NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of U2-type catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2-type precatalytic spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U2-type prespliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U4 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U4 snRNP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U4 snRNP NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of U4/U6 x U5 tri-snRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U4/U6 x U5 tri-snRNP complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of U4/U6 x U5 tri-snRNP complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of U5 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U5 snRNP NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of U7 snRNP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of histone pre-mRNA 3'end processing complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of methylosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of small nuclear ribonucleoprotein complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of spliceosomal complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of spliceosomal complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of telomerase holoenzyme complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    small nuclear ribonucleoprotein-associated proteins B and B'
    Names
    B polypeptide of Sm protein
    Sm protein B/B'
    sm-B/Sm-B'
    small nuclear ribonucleoprotein polypeptide B
    small nuclear ribonucleoprotein polypeptides B and B'

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_042057.1 RefSeqGene

      Range
      5065..14212
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003091.4 → NP_003082.1  small nuclear ribonucleoprotein-associated proteins B and B' isoform B

      See identical proteins and their annotated locations for NP_003082.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, that causes a frameshift. The resulting isoform (B) is shorter and has a distinct C-terminus as compared to isoform B'.
      Source sequence(s)
      BM559678, X17567
      Consensus CDS
      CCDS13027.1
      UniProtKB/TrEMBL
      Q5XPV6, Q66K91
      Related
      ENSP00000370746.3, ENST00000381342.7
      Conserved Domains (1) summary
      cd01717
      Location:5 → 83
      Sm_B; Sm protein B

    2. NM_198216.2 → NP_937859.1  small nuclear ribonucleoprotein-associated proteins B and B' isoform B'

      See identical proteins and their annotated locations for NP_937859.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (B').
      Source sequence(s)
      BM559678, X17568
      Consensus CDS
      CCDS13026.1
      UniProtKB/Swiss-Prot
      P14678, Q15490, Q6IB35, Q9UIS5
      UniProtKB/TrEMBL
      Q53HE7
      Related
      ENSP00000412566.2, ENST00000438552.6
      Conserved Domains (1) summary
      cd01717
      Location:5 → 83
      Sm_B; Sm protein B

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      2461642..2470789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      2492015..2501159 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14678.2 GenPept UniProtKB/Swiss-Prot:P14678

    Gene LinkOut

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

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