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

Summary

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

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
[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].
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.
SNRPB promotes cervical cancer progression through repressing p53 expression.
Title: SNRPB promotes cervical cancer progression through repressing p53 expression.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH122204 (e-PCR)
- UniSTS:134764

MARC_5069-5070:996690109:1 (e-PCR)
- UniSTS:269448

WI-18905 (e-PCR)
- UniSTS:29904

D20S1032 (e-PCR)
- UniSTS:51425

MARC_54547-54548:1155053028:1 (e-PCR)
- UniSTS:508146

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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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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

NG_042057.1 RefSeqGene

Range

5065..14212

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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