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

Gene ID: 57461, updated on 23-Nov-2021

Summary

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
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
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

See ISY1 in Genome Data Viewer
Location:
3q21.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (129127415..129161063, complement)
105.20201022 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 glycoprotein IX platelet Neighboring gene ISY1-RAB43 readthrough Neighboring gene RAB43, member RAS oncogene family Neighboring gene myotonic dystrophy type 2 repeat instability region Neighboring gene CCHC-type zinc finger nucleic acid binding protein Neighboring gene uncharacterized LOC105374101

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
Component Evidence Code Pubs
part_of Prp19 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
part_of post-spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001199469.2NP_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:1288
    Isy1; Isy1-like splicing family
  2. NM_020701.4NP_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
    Q9ULR0
    Related
    ENSP00000376973.4, ENST00000393295.8
    Conserved Domains (1) summary
    pfam06246
    Location:1266
    Isy1; Isy1-like splicing family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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