U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 154007, updated on 3-Apr-2024

Summary

Go to the top of the page Help
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, Apr 2022]
Expression
Ubiquitous expression in endometrium (RPKM 3.8), ovary (RPKM 3.4) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
6p24.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (7590198..7611967)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (7459234..7481028)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: 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

Go to the top of the pageHelp

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 (23) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

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.

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_2023_10

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

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous