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

Gene ID: 154007, updated on 22-Aug-2020

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
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
Expression
Ubiquitous expression in endometrium (RPKM 3.8), ovary (RPKM 3.4) and 25 other tissues See more
Orthologs

Genomic context

See SNRNP48 in Genome Data Viewer
Location:
6p24.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (7590198..7611967)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7590432..7612200)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928076 Neighboring gene VISTA enhancer hs2191 Neighboring gene desmoplakin Neighboring gene ribosomal protein L29 pseudogene 1 Neighboring gene uncharacterized LOC105374906 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

Phenotypes

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32234, MGC138904, MGC138905

Gene Ontology Provided by GOA

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

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
    Q6IEG0
    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: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011514312.3XP_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

RNA

  1. XR_427825.2 RNA Sequence

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