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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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