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

Gene ID: 11066, updated on 5-Mar-2024

Summary

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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 MIM:619631; AllianceGenome:HGNC:30852
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
HM1; 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
mouse all
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Genomic context

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Location:
12q24.31
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123458139..123473154)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123457038..123472057)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123942686..123957701)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene lysine methyltransferase 5A Neighboring gene Rab interacting lysosomal protein like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123920207-123921136 Neighboring gene uncharacterized LOC124903041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5045 Neighboring gene COP9 signalosome subunit 5 pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123942373-123943239 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123943240-123944105 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:123949657-123950158 Neighboring gene Sharpr-MPRA regulatory region 13608 Neighboring gene Rab interacting lysosomal protein like 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123977430-123978241 Neighboring gene Sharpr-MPRA regulatory region 11641 Neighboring gene Sharpr-MPRA regulatory region 13563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124000442-124000942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124017267-124018084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5046 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124019009-124019194 Neighboring gene microRNA 3908 Neighboring gene uncharacterized LOC124903042

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts. Huckins LM, et al. Cell Rep, 2020 Jun 2. PMID 32492425, Free PMC Article
  2. Anti-U11/U12 RNP antibodies in systemic sclerosis: a new serologic marker associated with pulmonary fibrosis. Fertig N, et al. Arthritis Rheum, 2009 Jul 15. PMID 19565553, Free PMC Article
  3. Cloning and characterization of a family of cDNAs from human histiocyte macrophage cells encoding an arginine-rich basic protein related to the 70 kD U1-snRNP splicing factor. Adams DS, et al. DNA Seq, 1998. PMID 10520751
  4. Site-directed mutagenesis of the CC chemokine binding protein 35K-Fc reveals residues essential for activity and mutations that increase the potency of CC chemokine blockade. White GE, et al. Mol Pharmacol, 2011 Aug. PMID 21586597, Free PMC Article
  5. Minor spliceosome components are predominantly localized in the nucleus. Pessa HK, et al. Proc Natl Acad Sci U S A, 2008 Jun 24. PMID 18559850, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts.
    Title: Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts.
  2. An Fc-fusion protein of 35kDa with a modified human immunoglobulin IgG1 Fc domain is capable of inhibiting CC chemokine-induced calcium flux, chemotaxis, and beta-arrestin recruitment in primary macrophages and transfected cells.
    Title: Site-directed mutagenesis of the CC chemokine binding protein 35K-Fc reveals residues essential for activity and mutations that increase the potency of CC chemokine blockade.
  3. Anti-U11/U12 RNP antibodies are present in the sera of approximately 3% of patients with systemic sclerosis and are a marker for lung fibrosis, which is often severe.
    Title: Anti-U11/U12 RNP antibodies in systemic sclerosis: a new serologic marker associated with pulmonary fibrosis.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21394, MGC138160

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in RNA splicing IC
Inferred by Curator
more info
 PubMed 
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
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 
located_in nucleolus 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 

General protein information

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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)

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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_022717.4 → NP_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)
    AC145423, BC047678, BM714052
    Consensus CDS
    CCDS9249.1
    UniProtKB/Swiss-Prot
    A8K262, Q16560, Q5XKN9
    Related
    ENSP00000432595.2, ENST00000526639.3
    Conserved Domains (1) summary
    cd12237
    Location:47 → 137
    RRM_snRNP35; RNA recognition motif (RRM) found in U11/U12 small nuclear ribonucleoprotein 35 kDa protein (U11/U12-35K) and similar proteins

  2. NM_180699.3 → NP_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:53 → 142
    RRM_snRNP35; RNA recognition motif found in U11/U12 small nuclear ribonucleoprotein 35 kDa protein (U11/U12-35K) and similar proteins

RNA

  1. NR_104103.2 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)
    AC145423, BC020829
    Related
    ENST00000527158.2

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    123458139..123473154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001748562.3 RNA Sequence

  2. XR_001748560.3 RNA Sequence

  3. XR_001748561.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    123457038..123472057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008488510.1 RNA Sequence

  2. XR_008488509.1 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16560.1 GenPept UniProtKB/Swiss-Prot:Q16560

Gene LinkOut

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

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