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    SRSF12 serine and arginine rich splicing factor 12 [ Homo sapiens (human) ]

    Gene ID: 135295, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SRSF12provided by HGNC
    Official Full Name
    serine and arginine rich splicing factor 12provided by HGNC
    Primary source
    HGNC:HGNC:21220
    See related
    Ensembl:ENSG00000154548 AllianceGenome:HGNC:21220
    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
    SFRS19; SRrp35; SFRS13B
    Summary
    Enables RNA binding activity. Involved in mRNA 5'-splice site recognition and regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 7.8), brain (RPKM 2.4) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SRSF12 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (89095959..89118071, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (90304618..90326713, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (89805678..89827790, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17383 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:89791183-89792143 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:89794226-89794753 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:89794754-89795280 Neighboring gene proline rich nuclear receptor coactivator 1 Neighboring gene RNA, 7SL, cytoplasmic 336, pseudogene Neighboring gene peptidase M20 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24819 Neighboring gene Sharpr-MPRA regulatory region 5254 Neighboring gene uncharacterized LOC101929004 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:89843600-89844238 Neighboring gene NANOG hESC enhancer GRCh37_chr6:89844239-89844876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17386 Neighboring gene gamma-aminobutyric acid type A receptor subunit rho1

    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. Serine-arginine (SR) protein-like factors that antagonize authentic SR proteins and regulate alternative splicing. Cowper AE, et al. J Biol Chem, 2001 Dec 28. PMID 11684676
    2. A rational nomenclature for serine/arginine-rich protein splicing factors (SR proteins). Manley JL, et al. Genes Dev, 2010 Jun 1. PMID 20516191, Free PMC Article
    3. A systematic screen for CDK4/6 substrates links FOXM1 phosphorylation to senescence suppression in cancer cells. Anders L, et al. Cancer Cell, 2011 Nov 15. PMID 22094256, Free PMC Article
    4. The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus. Singh G, et al. Cell, 2012 Nov 9. PMID 23084401, Free PMC Article
    5. FOXA1 Directs H3K4 Monomethylation at Enhancers via Recruitment of the Methyltransferase MLL3. Jozwik KM, et al. Cell Rep, 2016 Dec 6. PMID 27926873, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ14459, FLJ33484, FLJ41221

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables RS domain binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA 5'-splice site recognition IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of mRNA splicing, via spliceosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spliceosomal tri-snRNP complex assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nuclear speck IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    serine/arginine-rich splicing factor 12
    Names
    35 kDa SR repressor protein
    SR splicing factor 12
    serine-arginine repressor protein (35 kDa)
    splicing factor, arginine/serine-rich 13B
    splicing factor, arginine/serine-rich 19

    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_001376896.1 → NP_001363825.1  serine/arginine-rich splicing factor 12 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variants 3 and 4, encodes isoform b.
      Source sequence(s)
      AL353135
      UniProtKB/TrEMBL
      B3KVR7

    2. NM_001376897.1 → NP_001363826.1  serine/arginine-rich splicing factor 12 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 2 and 4, encodes isoform b.
      Source sequence(s)
      AL353135
      UniProtKB/TrEMBL
      B3KVR7

    3. NM_001376898.1 → NP_001363827.1  serine/arginine-rich splicing factor 12 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform b.
      Source sequence(s)
      AL353135
      UniProtKB/TrEMBL
      B3KVR7

    4. NM_080743.5 → NP_542781.3  serine/arginine-rich splicing factor 12 isoform a

      See identical proteins and their annotated locations for NP_542781.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AA889416, AF449428, AL353135, BC021715, BP244338
      Consensus CDS
      CCDS47459.1
      UniProtKB/Swiss-Prot
      B2RA22, Q5T7K0, Q8WW25, Q8WXF0
      Related
      ENSP00000414302.2, ENST00000452027.3
      Conserved Domains (2) summary
      TIGR01628
      Location:12 → 211
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12312
      Location:10 → 93
      RRM_SRSF10_SRSF12; RNA recognition motif (RRM) found in serine/arginine-rich splicing factor SRSF10, SRSF12 and similar proteins

    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
      89095959..89118071 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418223.1 → XP_047274179.1  serine/arginine-rich splicing factor 12 isoform X2

      UniProtKB/TrEMBL
      B3KVR7

    2. XM_011535483.3 → XP_011533785.1  serine/arginine-rich splicing factor 12 isoform X1

      Conserved Domains (2) summary
      COG0724
      Location:9 → 77
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12312
      Location:8 → 78
      RRM_SRSF10_SRSF12; RNA recognition motif in serine/arginine-rich splicing factor SRSF10, SRSF12 and similar proteins

    3. XM_047418224.1 → XP_047274180.1  serine/arginine-rich splicing factor 12 isoform X2

      UniProtKB/TrEMBL
      B3KVR7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      90304618..90326713 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354313.1 → XP_054210288.1  serine/arginine-rich splicing factor 12 isoform X2

      UniProtKB/TrEMBL
      B3KVR7

    2. XM_054354312.1 → XP_054210287.1  serine/arginine-rich splicing factor 12 isoform X1

    3. XM_054354314.1 → XP_054210289.1  serine/arginine-rich splicing factor 12 isoform X2

      UniProtKB/TrEMBL
      B3KVR7

    4. XM_054354315.1 → XP_054210290.1  serine/arginine-rich splicing factor 12 isoform X2

      UniProtKB/TrEMBL
      B3KVR7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXF0.1 GenPept UniProtKB/Swiss-Prot:Q8WXF0

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