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

Gene ID: 154007, updated on 9-Dec-2024

Summary

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, Dec 2024]
Expression
Ubiquitous expression in endometrium (RPKM 3.8), ovary (RPKM 3.4) and 25 other tissues See more
Orthologs
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Genomic context

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

Expression

  • 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

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_152551.4NP_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:5779
    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_011514312.4XP_011512614.1  U11/U12 small nuclear ribonucleoprotein 48 kDa protein isoform X1

    Conserved Domains (1) summary
    pfam05253
    Location:3558
    zf-U11-48K; U11-48K-like CHHC zinc finger
  2. XM_047418238.1XP_047274194.1  U11/U12 small nuclear ribonucleoprotein 48 kDa protein isoform X2

    UniProtKB/TrEMBL
    A0A0U1RQZ2
    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_054354341.1XP_054210316.1  U11/U12 small nuclear ribonucleoprotein 48 kDa protein isoform X1

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

    UniProtKB/TrEMBL
    A0A0U1RQZ2