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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

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