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

Gene ID: 348327, updated on 5-Mar-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, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
19q13.43
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (57599885..57612722)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (60696814..60709651)
105.20220307 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)

Genotypes

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_2023_10

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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