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    ZRSR2P1 ZRSR2 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 7310, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZRSR2P1provided by HGNC
    Official Full Name
    ZRSR2 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:12456
    See related
    Ensembl:ENSG00000212643 MIM:601079; AllianceGenome:HGNC:12456
    Gene type
    pseudo
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZRSR1; U2AF1P; ZC3H21; U2AF1L1; U2AFBPL; U2AF1RS1; U2AF1-RS1
    Summary
    Predicted to enable pre-mRNA 3'-splice site binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleus. Predicted to be part of U2AF complex and spliceosomal complex. [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See ZRSR2P1 in Genome Data Viewer
    Location:
    5q22.2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (112891628..112893097)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (113402150..113403619)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (112227325..112228794)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene APC regulator of WNT signaling pathway Neighboring gene RNA, U6 small nuclear 482, pseudogene Neighboring gene Sharpr-MPRA regulatory region 9882 Neighboring gene signal recognition particle 19 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:112226954-112228153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16238 Neighboring gene receptor accessory protein 5 Neighboring gene X-box binding protein 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16240 Neighboring gene uncharacterized LOC105379123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22913 Neighboring gene MPRA-validated peak5421 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16241 Neighboring gene Sharpr-MPRA regulatory region 12983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22914 Neighboring gene uncharacterized LOC105379126

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identifying large indels in targeted next generation sequencing assays for myeloid neoplasms: a cautionary tale of the ZRSR1 pseudogene. Ng IK, et al. J Clin Pathol, 2017 Dec. PMID 28676493
    2. U2 small nuclear ribonucleoprotein particle (snRNP) auxiliary factor of 65 kDa, U2AF65, can promote U1 snRNP recruitment to 5' splice sites. Förch P, et al. Biochem J, 2003 May 15. PMID 12558503, Free PMC Article
    3. Absence of imprinting in U2AFBPL, a human homologue of the imprinted mouse gene U2afbp-rs. Pearsall RS, et al. Biochem Biophys Res Commun, 1996 May 6. PMID 8630064
    4. A case-by-case evolutionary analysis of four imprinted retrogenes. McCole RB, et al. Evolution, 2011 May. PMID 21166792, Free PMC Article
    5. Comparative analyses of genomic imprinting and CpG island-methylation in mouse Murr1 and human MURR1 loci revealed a putative imprinting control region in mice. Zhang Z, et al. Gene, 2006 Jan 17. PMID 16305817

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Confounding ZRSR1 pseudogene led to an erroneous ZRSR2 variant call in myeloid neoplasms.
      Title: Identifying large indels in targeted next generation sequencing assays for myeloid neoplasms: a cautionary tale of the ZRSR1 pseudogene.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    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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    Markers

    Other Names

    • U2 small nuclear RNA auxillary factor 1-like 1
    • U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 1
    • U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1
    • zinc finger (CCCH type), RNA binding motif and serine/arginine rich 1
    • zinc finger CCCH-type, RNA binding motif and serine/arginine rich 1

    Clone Names

    • FLJ94140, MGC142159

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables pre-mRNA 3'-splice site binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of U2AF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    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.

    Genomic

    1. NG_005419.5 

      Range
      101..1570
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      112891628..112893097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      113402150..113403619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_005083.2: Suppressed sequence

      Description
      NM_005083.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15695.2 GenPept UniProtKB/Swiss-Prot:Q15695

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials