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    ZSWIM7 zinc finger SWIM-type containing 7 [ Homo sapiens (human) ]

    Gene ID: 125150, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZSWIM7provided by HGNC
    Official Full Name
    zinc finger SWIM-type containing 7provided by HGNC
    Primary source
    HGNC:HGNC:26993
    See related
    Ensembl:ENSG00000214941 MIM:614535; AllianceGenome:HGNC:26993
    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
    SWS1; ODG10; SPGF71
    Summary
    Predicted to enable zinc ion binding activity. Involved in double-strand break repair via homologous recombination and protein stabilization. Part of Shu complex. Implicated in 46 XX gonadal dysgenesis and spermatogenic failure 71. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 6.2), adrenal (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZSWIM7 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (15976560..15999704, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (15878745..15901920, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (15879874..15903018, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371557 Neighboring gene LCR17pA recombination region Neighboring gene SPECC1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15760104-15761059 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:15761456-15762052 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:15762053-15762649 Neighboring gene adenosine A2b receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15785055-15785554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15831280-15831780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15831781-15832281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15848447-15849261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15854153-15854950 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15869033-15869619 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15869620-15870205 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15870206-15870792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15870793-15871377 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15871628-15872376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15872377-15873123 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:15881867-15882452 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:15882453-15883039 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15885417-15886106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8214 Neighboring gene MPRA-validated peak2750 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8215 Neighboring gene tetratricopeptide repeat domain 19 Neighboring gene Sharpr-MPRA regulatory region 10193 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:15947413-15947923 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:15947924-15948433 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 11 Neighboring gene nuclear receptor corepressor 1 Neighboring gene ribosomal protein L22 pseudogene 21

    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. A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females. Hussain S, et al. Eur J Med Genet, 2022 Nov. PMID 36202298
    2. Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency. Yatsenko SA, et al. J Clin Endocrinol Metab, 2022 May 17. PMID 35218660, Free PMC Article
    3. ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency. McGlacken-Byrne SM, et al. J Clin Endocrinol Metab, 2022 Jan 1. PMID 34402903, Free PMC Article
    4. A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination. Li Y, et al. Hum Reprod, 2021 Apr 20. PMID 33713115
    5. The human Shu complex promotes RAD51 activity by modulating RPA dynamics on ssDNA. Hengel SR, et al. Nat Commun, 2024 Aug 21. PMID 39169038, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The human Shu complex promotes RAD51 activity by modulating RPA dynamics on ssDNA.
      Title: The human Shu complex promotes RAD51 activity by modulating RPA dynamics on ssDNA.
    2. A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females.
      Title: A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females.
    3. Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
      Title: Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
    4. ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
      Title: ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
    5. A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination.
      Title: A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination.
    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

    Associated conditions

    Description Tests
    Ovarian dysgenesis 10
    MedGen: C5676966 OMIM: 619834 GeneReviews: Not available
    		not available
    Spermatogenic failure 71
    MedGen: C5676963 OMIM: 619831 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Shu complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Shu complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger SWIM domain-containing protein 7
    Names
    SWIM domain-containing and Srs2-interacting protein 1 homolog
    SWIM-type zinc finger domain-containing protein 7

    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_001042697.2 → NP_001036162.1  zinc finger SWIM domain-containing protein 7

      See identical proteins and their annotated locations for NP_001036162.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC006251, BU075283, DQ530600
      Consensus CDS
      CCDS42266.1
      UniProtKB/Swiss-Prot
      Q19AV6
      Related
      ENSP00000382218.1, ENST00000399277.6
      Conserved Domains (1) summary
      pfam04434
      Location:83 → 112
      SWIM; SWIM zinc finger

    2. NM_001042698.2 → NP_001036163.1  zinc finger SWIM domain-containing protein 7

      See identical proteins and their annotated locations for NP_001036163.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC006251, BU075283, DQ530600
      Consensus CDS
      CCDS42266.1
      UniProtKB/Swiss-Prot
      Q19AV6
      Related
      ENSP00000419138.1, ENST00000472495.5
      Conserved Domains (1) summary
      pfam04434
      Location:83 → 112
      SWIM; SWIM zinc finger

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      15976560..15999704 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435364.1 → XP_047291320.1  zinc finger SWIM domain-containing protein 7 isoform X1

      UniProtKB/Swiss-Prot
      Q19AV6

    2. XM_047435366.1 → XP_047291322.1  zinc finger SWIM domain-containing protein 7 isoform X2

    3. XM_047435365.1 → XP_047291321.1  zinc finger SWIM domain-containing protein 7 isoform X2

    RNA

    1. XR_007065263.1 RNA Sequence

      Related
      ENST00000490395.5

    2. XR_007065264.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      15878745..15901920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315076.1 → XP_054171051.1  zinc finger SWIM domain-containing protein 7 isoform X1

      UniProtKB/Swiss-Prot
      Q19AV6

    2. XM_054315077.1 → XP_054171052.1  zinc finger SWIM domain-containing protein 7 isoform X2

    RNA

    1. XR_008484783.1 RNA Sequence

    2. XR_008484784.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q19AV6.1 GenPept UniProtKB/Swiss-Prot:Q19AV6

    Gene LinkOut

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

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