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SNRNP35 small nuclear ribonucleoprotein U11/U12 subunit 35 [ Homo sapiens (human) ]

Gene ID: 11066, updated on 21-Apr-2019

Summary

Official Symbol
SNRNP35provided by HGNC
Official Full Name
small nuclear ribonucleoprotein U11/U12 subunit 35provided by HGNC
Primary source
HGNC:HGNC:30852
See related
Ensembl:ENSG00000184209
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
HM-1; U1SNRNPBP
Summary
The protein encoded by this gene is a homolog of the U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal half is rich in Arg/Asp and Arg/Glu dipeptides, which is a characteristic of a variety of splicing factors. This protein is a component of the U11/U12 small nuclear ribonucleoproteins (snRNP) that form part of the U12-type spliceosome. Alternative splicing results in multiple transcript variants encoding two distinct isoforms and representing a non-protein coding variant. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in heart (RPKM 3.2), thyroid (RPKM 3.0) and 25 other tissues See more
Orthologs

Genomic context

See SNRNP35 in Genome Data Viewer
Location:
12q24.31
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (123458101..123472362)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123942191..123950941)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene lysine methyltransferase 5A Neighboring gene Rab interacting lysosomal protein like 2 Neighboring gene Rab interacting lysosomal protein like 1 Neighboring gene microRNA 3908 Neighboring gene uncharacterized LOC101927415

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
    Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...
  • mRNA Splicing, organism-specific biosystem (from REACTOME)
    mRNA Splicing, organism-specific biosystemThe process in which excision of introns from the primary transcript of messenger RNA (mRNA) is followed by ligation of the two exon termini exposed by removal of each intron, is called mRNA splicing...
  • mRNA Splicing - Minor Pathway, organism-specific biosystem (from REACTOME)
    mRNA Splicing - Minor Pathway, organism-specific biosystemThe splicing of a subset of pre-mRNA introns occurs by a second pathway, designated the AT-AC or U12-dependent splicing pathway. AT-AC introns have highly conserved, non-canonical splice sites that ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21394, MGC138160

Gene Ontology Provided by GOA

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 IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
U11/U12 small nuclear ribonucleoprotein 35 kDa protein
Names
U1 snRNP-binding protein homolog
U11/U12 snRNP 35 kDa protein
U11/U12 snRNP 35K
U11/U12-35K
protein HM-1
small nuclear ribonucleoprotein 35kDa (U11/U12)
small nuclear ribonucleoprotein, U11/U12 35kDa 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_022717.3NP_073208.1  U11/U12 small nuclear ribonucleoprotein 35 kDa protein isoform a

    See identical proteins and their annotated locations for NP_073208.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the shorter isoform (a).
    Source sequence(s)
    BC047678, BM714052
    Consensus CDS
    CCDS9249.1
    UniProtKB/Swiss-Prot
    Q16560
    UniProtKB/TrEMBL
    A0A024RBU2
    Related
    ENSP00000432595.2, ENST00000526639.2
    Conserved Domains (1) summary
    cd12237
    Location:48137
    RRM_snRNP35; RNA recognition motif found in U11/U12 small nuclear ribonucleoprotein 35 kDa protein (U11/U12-35K) and similar proteins
  2. NM_180699.3NP_851030.1  U11/U12 small nuclear ribonucleoprotein 35 kDa protein isoform b

    See identical proteins and their annotated locations for NP_851030.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an alternate exon and initiates translation at an alternate start codon, compared to variant 2. The full extent of the 5' UTR of this variant has not been determined. The encoded isoform (b) has a longer N-terminus, compared to isoform a.
    Source sequence(s)
    BC047678
    Consensus CDS
    CCDS45005.1
    UniProtKB/Swiss-Prot
    Q16560
    Related
    ENSP00000403310.2, ENST00000412157.2
    Conserved Domains (1) summary
    cd12237
    Location:53142
    RRM_snRNP35; RNA recognition motif found in U11/U12 small nuclear ribonucleoprotein 35 kDa protein (U11/U12-35K) and similar proteins

RNA

  1. NR_104103.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate last exon compared to variant 2. This variant is represented as non-coding because it lacks the entire coding region found in variant 2.
    Source sequence(s)
    BC020829, BM714052

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    123458101..123472362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018724.2XP_016874213.1  U11/U12 small nuclear ribonucleoprotein 35 kDa protein isoform X1

    UniProtKB/Swiss-Prot
    Q16560
    Conserved Domains (1) summary
    cd12237
    Location:53142
    RRM_snRNP35; RNA recognition motif found in U11/U12 small nuclear ribonucleoprotein 35 kDa protein (U11/U12-35K) and similar proteins
  2. XM_006719204.4XP_006719267.1  U11/U12 small nuclear ribonucleoprotein 35 kDa protein isoform X2

    See identical proteins and their annotated locations for XP_006719267.1

    UniProtKB/Swiss-Prot
    Q16560
    UniProtKB/TrEMBL
    A0A024RBU2
    Related
    ENSP00000340774.5, ENST00000350887.5
    Conserved Domains (1) summary
    cd12237
    Location:48137
    RRM_snRNP35; RNA recognition motif found in U11/U12 small nuclear ribonucleoprotein 35 kDa protein (U11/U12-35K) and similar proteins

RNA

  1. XR_001748562.2 RNA Sequence

  2. XR_001748560.2 RNA Sequence

  3. XR_001748561.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_007020.2: Suppressed sequence

    Description
    NM_007020.2: This RefSeq was permanently suppressed because it has a non-consensus splice site that does not have enough supporting evidence.
  2. NM_180703.2: Suppressed sequence

    Description
    NM_180703.2: This RefSeq was permanently suppressed because it has two non-consensus splice sites that do not have enough supporting evidence.
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