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

Gene ID: 57461, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 10.5), lymph node (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3q21.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (129127415..129161063, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (131872317..131905969, complement)
105.20220307 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
  • 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 (54) 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_2023_10

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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