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ZNF30 zinc finger protein 30 [ Homo sapiens (human) ]

Gene ID: 90075, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF30provided by HGNC
Official Full Name
zinc finger protein 30provided by HGNC
Primary source
HGNC:HGNC:13090
See related
Ensembl:ENSG00000168661 AllianceGenome:HGNC:13090
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
KOX28
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
Ubiquitous expression in brain (RPKM 1.2), prostate (RPKM 1.2) and 25 other tissues See more
Orthologs
all
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Genomic context

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See ZNF30 in Genome Data Viewer
Location:
19q13.11
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (34923841..34945168)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37468474..37489783)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35417807..35436072)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35396062-35396771 Neighboring gene long intergenic non-protein coding RNA 1838 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr19:35400119-35400717 Neighboring gene ZNF30 antisense RNA 1 Neighboring gene zinc finger protein 792 Neighboring gene uncharacterized LOC124904699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10511 Neighboring gene uncharacterized LOC124904700

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. Multiple genes encoding zinc finger domains are expressed in human T cells. Thiesen HJ. New Biol, 1990 Apr. PMID 2288909
  2. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568
  3. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049
  4. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (9) 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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Markers

Homology

Clone Names

  • FLJ20562, DKFZp686N19164

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 30
Names
zinc finger protein 30 (KOX 28)
zinc finger protein KOX28

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_001099437.2 → NP_001092907.1  zinc finger protein 30 isoform a

    See identical proteins and their annotated locations for NP_001092907.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AK000569, BC142996, DC352784
    Consensus CDS
    CCDS46044.1
    UniProtKB/Swiss-Prot
    P17039
    Related
    ENSP00000303889.7, ENST00000303586.11
    Conserved Domains (5) summary
    smart00349
    Location:14 → 75
    KRAB; krueppel associated box
    COG5048
    Location:245 → 624
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:403 → 423
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:14 → 53
    KRAB; KRAB box
    pfam13465
    Location:304 → 327
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001099438.2 → NP_001092908.1  zinc finger protein 30 isoform a

    See identical proteins and their annotated locations for NP_001092908.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC008555, AK000569, BC142996, DA554380, DC352784
    Consensus CDS
    CCDS46044.1
    UniProtKB/Swiss-Prot
    P17039
    Related
    ENSP00000403441.1, ENST00000439785.5
    Conserved Domains (5) summary
    smart00349
    Location:14 → 75
    KRAB; krueppel associated box
    COG5048
    Location:245 → 624
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:403 → 423
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:14 → 53
    KRAB; KRAB box
    pfam13465
    Location:304 → 327
    zf-H2C2_2; Zinc-finger double domain

  3. NM_194325.3 → NP_919306.2  zinc finger protein 30 isoform b

    See identical proteins and their annotated locations for NP_919306.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded protein (isoform b) is shorter than isoform a.
    Source sequence(s)
    AK000569, BC142996, DA504398, DC352784
    Consensus CDS
    CCDS46045.1
    UniProtKB/Swiss-Prot
    A5PLP1, A8K320, B4DIC0, P17039, Q6N068
    Related
    ENSP00000469954.1, ENST00000601142.2
    Conserved Domains (5) summary
    smart00349
    Location:14 → 74
    KRAB; krueppel associated box
    COG5048
    Location:244 → 623
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:402 → 422
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:14 → 53
    KRAB; KRAB box
    pfam13465
    Location:303 → 326
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_024018.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses two alternate splice sites and includes an additional exon, compared to variant 1. This variant is believed to be non-coding since translation from the 5'-most translation start codon, as used by variant 1, would cause nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK000569, AK290435, DC314501
    Related
    ENST00000601957.5

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
    34923841..34945168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027424.2 → XP_016882913.1  zinc finger protein 30 isoform X1

    UniProtKB/Swiss-Prot
    P17039
    Conserved Domains (5) summary
    smart00349
    Location:14 → 75
    KRAB; krueppel associated box
    COG5048
    Location:245 → 624
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:403 → 423
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:14 → 53
    KRAB; KRAB box
    pfam13465
    Location:304 → 327
    zf-H2C2_2; Zinc-finger double domain

  2. XM_011527443.3 → XP_011525745.1  zinc finger protein 30 isoform X1

    See identical proteins and their annotated locations for XP_011525745.1

    UniProtKB/Swiss-Prot
    P17039
    Conserved Domains (5) summary
    smart00349
    Location:14 → 75
    KRAB; krueppel associated box
    COG5048
    Location:245 → 624
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:403 → 423
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:14 → 53
    KRAB; KRAB box
    pfam13465
    Location:304 → 327
    zf-H2C2_2; Zinc-finger double domain

  3. XM_017027426.2 → XP_016882915.1  zinc finger protein 30 isoform X2

    UniProtKB/Swiss-Prot
    A5PLP1, A8K320, B4DIC0, P17039, Q6N068
    Conserved Domains (5) summary
    smart00349
    Location:14 → 74
    KRAB; krueppel associated box
    COG5048
    Location:244 → 623
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:402 → 422
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:14 → 53
    KRAB; KRAB box
    pfam13465
    Location:303 → 326
    zf-H2C2_2; Zinc-finger double domain

  4. XM_017027425.2 → XP_016882914.1  zinc finger protein 30 isoform X2

    UniProtKB/Swiss-Prot
    A5PLP1, A8K320, B4DIC0, P17039, Q6N068
    Conserved Domains (5) summary
    smart00349
    Location:14 → 74
    KRAB; krueppel associated box
    COG5048
    Location:244 → 623
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:402 → 422
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:14 → 53
    KRAB; KRAB box
    pfam13465
    Location:303 → 326
    zf-H2C2_2; Zinc-finger double domain

  5. XM_011527444.2 → XP_011525746.1  zinc finger protein 30 isoform X1

    See identical proteins and their annotated locations for XP_011525746.1

    UniProtKB/Swiss-Prot
    P17039
    Conserved Domains (5) summary
    smart00349
    Location:14 → 75
    KRAB; krueppel associated box
    COG5048
    Location:245 → 624
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:403 → 423
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:14 → 53
    KRAB; KRAB box
    pfam13465
    Location:304 → 327
    zf-H2C2_2; Zinc-finger double domain

  6. XM_047439607.1 → XP_047295563.1  zinc finger protein 30 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    37468474..37489783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322501.1 → XP_054178476.1  zinc finger protein 30 isoform X1

  2. XM_054322504.1 → XP_054178479.1  zinc finger protein 30 isoform X2

    UniProtKB/Swiss-Prot
    A5PLP1, A8K320, B4DIC0, P17039, Q6N068

  3. XM_054322500.1 → XP_054178475.1  zinc finger protein 30 isoform X1

  4. XM_054322503.1 → XP_054178478.1  zinc finger protein 30 isoform X2

    UniProtKB/Swiss-Prot
    A5PLP1, A8K320, B4DIC0, P17039, Q6N068

  5. XM_054322502.1 → XP_054178477.1  zinc finger protein 30 isoform X1

  6. XM_054322505.1 → XP_054178480.1  zinc finger protein 30 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P17039.5 GenPept UniProtKB/Swiss-Prot:P17039

Gene LinkOut

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