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

Gene ID: 135295, updated on 5-Mar-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 cytoplasm and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 7.8), brain (RPKM 2.4) and 6 other tissues See more
Orthologs
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Genomic context

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Location:
6q15
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (89095959..89118071, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (90304618..90326713, complement)
105.20220307 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 (26) 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)

Genotypes

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 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_2023_10

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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