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    ZNF530 zinc finger protein 530 [ Homo sapiens (human) ]

    Gene ID: 348327, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF530provided by HGNC
    Official Full Name
    zinc finger protein 530provided by HGNC
    Primary source
    HGNC:HGNC:29297
    See related
    Ensembl:ENSG00000183647 AllianceGenome:HGNC:29297
    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
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See ZNF530 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (57599885..57612722)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (60696814..60709651)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58111253..58124090)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11076 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58095022-58095553 Neighboring gene zinc finger protein interacting with K protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11077 Neighboring gene zinc finger protein 134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11078 Neighboring gene zinc finger protein 211 Neighboring gene MPRA-validated peak3574 silencer

    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. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Xu B, et al. Nat Genet, 2011 Aug 7. PMID 21822266, Free PMC Article
    2. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Apr 28. PMID 10819331
    3. A Single Adaptable Cochaperone-Scaffold Complex Delivers Nascent Iron-Sulfur Clusters to Mammalian Respiratory Chain Complexes I-III. Maio N, et al. Cell Metab, 2017 Apr 4. PMID 28380382
    4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • KIAA1508

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 530

    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_001321981.2 → NP_001308910.1  zinc finger protein 530 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC003682, BC060865, BX106478
      Consensus CDS
      CCDS92698.1
      UniProtKB/TrEMBL
      M0R1P0
      Related
      ENSP00000472024.2, ENST00000597700.6
      Conserved Domains (3) summary
      COG5048
      Location:231 → 565
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:488 → 508
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02581
      Location:2 → 21
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    2. NM_001387561.1 → NP_001374490.1  zinc finger protein 530 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC003682
      Consensus CDS
      CCDS92698.1
      UniProtKB/TrEMBL
      M0R1P0
      Conserved Domains (3) summary
      COG5048
      Location:231 → 565
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:488 → 508
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02581
      Location:2 → 21
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    3. NM_001387562.1 → NP_001374491.1  zinc finger protein 530 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC003682
      Conserved Domains (3) summary
      COG5048
      Location:263 → 597
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:520 → 540
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:13 → 53
      KRAB; KRAB box

    4. NM_001387563.1 → NP_001374492.1  zinc finger protein 530 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC003682
      Conserved Domains (5) summary
      COG5048
      Location:238 → 328
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:241 → 261
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:267 → 289
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 54
      KRAB; KRAB box
      pfam13465
      Location:281 → 306
      zf-H2C2_2; Zinc-finger double domain

    5. NM_020880.5 → NP_065931.3  zinc finger protein 530 isoform 1

      See identical proteins and their annotated locations for NP_065931.3

      Status: VALIDATED

      Source sequence(s)
      AC003682, BC060865, BX106478
      Consensus CDS
      CCDS12955.1
      UniProtKB/Swiss-Prot
      O43340, Q6P9A1, Q9P220
      Related
      ENSP00000332861.5, ENST00000332854.11
      Conserved Domains (6) summary
      smart00349
      Location:14 → 55
      KRAB; krueppel associated box
      COG5048
      Location:264 → 598
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:521 → 541
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:267 → 289
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 53
      KRAB; KRAB box
      pfam13465
      Location:533 → 558
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_135923.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC003682, AL832740

    2. NR_135924.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC003682, AL832740, BC060865
      Related
      ENST00000597864.1

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      57599885..57612722
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      60696814..60709651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P9A1.2 GenPept UniProtKB/Swiss-Prot:Q6P9A1

    Gene LinkOut

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

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