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    ISY1 ISY1 splicing factor homolog [ Homo sapiens (human) ]

    Gene ID: 57461, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ISY1provided by HGNC
    Official Full Name
    ISY1 splicing factor homologprovided by HGNC
    Primary source
    HGNC:HGNC:29201
    See related
    Ensembl:ENSG00000240682 MIM:612764; AllianceGenome:HGNC:29201
    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
    FSAP33
    Summary
    Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type catalytic step 1 spliceosome and catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 10.5), lymph node (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ISY1 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (129127415..129161063, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (131872317..131905969, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128846258..128879906, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128807293-128807837 Neighboring gene ISY1-RAB43 readthrough Neighboring gene RAB43, member RAS oncogene family Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:128831162-128831662 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:128838731-128839676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20505 Neighboring gene myotonic dystrophy type 2 repeat instability region Neighboring gene CCHC-type zinc finger nucleic acid binding protein Neighboring gene uncharacterized LOC105374101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20506

    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 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. The splicing component ISY1 regulates APE1 in base excision repair. Jaiswal AS, et al. DNA Repair (Amst), 2020 Feb. PMID 31887540, Free PMC Article
    2. The Isy1p component of the NineTeen complex interacts with the ATPase Prp16p to regulate the fidelity of pre-mRNA splicing. Villa T, et al. Genes Dev, 2005 Aug 15. PMID 16103217, Free PMC Article
    3. The RNA helicase Aquarius exhibits structural adaptations mediating its recruitment to spliceosomes. De I, et al. Nat Struct Mol Biol, 2015 Feb. PMID 25599396
    4. A new role for FBP21 as regulator of Brr2 helicase activity. Henning LM, et al. Nucleic Acids Res, 2017 Jul 27. PMID 28838205, Free PMC Article
    5. Structure of a human catalytic step I spliceosome. Zhan X, et al. Science, 2018 Feb 2. PMID 29301961

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The splicing component ISY1 regulates APE1 in base excision repair.
      Title: The splicing component ISY1 regulates APE1 in base excision repair.
    2. Describes the function of yeast Isy1p in pre-mRNA splicing.
      Title: The Isy1p component of the NineTeen complex interacts with the ATPase Prp16p to regulate the fidelity of pre-mRNA splicing.
    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

    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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    Markers

    Readthrough ISY1-RAB43

    Readthrough gene: ISY1-RAB43, Included gene: RAB43

    Homology

    Clone Names

    • KIAA1160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in generation of catalytic spliceosome for second transesterification step IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA 3'-splice site recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Prp19 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type catalytic step 1 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of post-mRNA release spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of post-spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    pre-mRNA-splicing factor ISY1 homolog
    Names
    functional spliceosome-associated protein 33

    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_001199469.2 → NP_001186398.1  pre-mRNA-splicing factor ISY1 homolog isoform 1

      See identical proteins and their annotated locations for NP_001186398.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC108673, AK024035, BC007409, BG282120
      Consensus CDS
      CCDS56277.1
      UniProtKB/Swiss-Prot
      Q9ULR0
      Related
      ENSP00000273541.8, ENST00000273541.12
      Conserved Domains (1) summary
      pfam06246
      Location:1 → 288
      Isy1; Isy1-like splicing family

    2. NM_020701.4 → NP_065752.1  pre-mRNA-splicing factor ISY1 homolog isoform 2

      See identical proteins and their annotated locations for NP_065752.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC108673, AK024035, BC019849
      Consensus CDS
      CCDS43149.1
      UniProtKB/Swiss-Prot
      Q96IL2, Q9BT05, Q9ULR0
      Related
      ENSP00000376973.4, ENST00000393295.8
      Conserved Domains (1) summary
      pfam06246
      Location:1 → 266
      Isy1; Isy1-like splicing family

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      129127415..129161063 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      131872317..131905969 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULR0.3 GenPept UniProtKB/Swiss-Prot:Q9ULR0

    Gene LinkOut

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

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