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    ZFP30 ZFP30 zinc finger protein [ Homo sapiens (human) ]

    Gene ID: 22835, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZFP30provided by HGNC
    Official Full Name
    ZFP30 zinc finger proteinprovided by HGNC
    Primary source
    HGNC:HGNC:29555
    See related
    Ensembl:ENSG00000120784 MIM:617317; AllianceGenome:HGNC:29555
    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
    ZNF745
    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 testis (RPKM 2.7), thyroid (RPKM 2.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19q13.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (37631006..37656261, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (40432744..40458006, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38121907..38147162, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ZNF571 antisense RNA 1 Neighboring gene zinc finger protein 540 Neighboring gene zinc finger protein 571 Neighboring gene MT-ND5 pseudogene 45 Neighboring gene MT-CO1 pseudogene 41 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38084654-38085335 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38085336-38086018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14554 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38146535-38147522 Neighboring gene zinc finger protein 781 Neighboring gene selenoprotein K pseudogene 1

    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. Novel genetic causes for cerebral visual impairment. Bosch DG, et al. Eur J Hum Genet, 2016 May. PMID 26350515, Free PMC Article
    2. ZFP30 promotes adipogenesis through the KAP1-mediated activation of a retrotransposon-derived Pparg2 enhancer. Chen W, et al. Nat Commun, 2019 Apr 18. PMID 31000713, Free PMC Article
    3. Zfp30, a KRAB domain containing zinc finger protein gene, maps to mouse chromosome 7. Denny P, et al. Mamm Genome, 1994 Oct. PMID 7849402
    4. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Feb 26. PMID 10231032
    5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. Oguri M, et al. Am J Hypertens, 2010 Jan. PMID 19851296

    See all (17) 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

    • KIAA0961

    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 homolog
    Names
    zinc finger protein 745

    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.

    Genomic

    1. NG_054886.1 RefSeqGene

      Range
      6821..31280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320666.3 → NP_001307595.1  zinc finger protein 30 homolog isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein (isoform 1).
      Source sequence(s)
      AB023178, AC022148, AC093227, AI377404, BC041087, GU388430
      Consensus CDS
      CCDS33005.1
      UniProtKB/Swiss-Prot
      Q58EY8, Q9Y2G7
      UniProtKB/TrEMBL
      D3Y2A0
      Conserved Domains (3) summary
      smart00349
      Location:6 → 67
      KRAB; krueppel associated box
      COG5048
      Location:156 → 509
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:440 → 460
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001320667.3 → NP_001307596.1  zinc finger protein 30 homolog isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein (isoform 1).
      Source sequence(s)
      AC022148, AC093227, AI377404, BC050542, GU388430
      Consensus CDS
      CCDS33005.1
      UniProtKB/Swiss-Prot
      Q58EY8, Q9Y2G7
      UniProtKB/TrEMBL
      D3Y2A0
      Conserved Domains (3) summary
      smart00349
      Location:6 → 67
      KRAB; krueppel associated box
      COG5048
      Location:156 → 509
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:440 → 460
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001320668.3 → NP_001307597.1  zinc finger protein 30 homolog isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 - 5 encode the same protein (isoform 1).
      Source sequence(s)
      AC022148, AI377404, GU388430
      Consensus CDS
      CCDS33005.1
      UniProtKB/Swiss-Prot
      Q58EY8, Q9Y2G7
      UniProtKB/TrEMBL
      D3Y2A0
      Related
      ENSP00000422930.2, ENST00000514101.6
      Conserved Domains (3) summary
      smart00349
      Location:6 → 67
      KRAB; krueppel associated box
      COG5048
      Location:156 → 509
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:440 → 460
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_001320669.3 → NP_001307598.1  zinc finger protein 30 homolog isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein (isoform 1).
      Source sequence(s)
      AC022148, AC093227, AI377404, GU388430
      Consensus CDS
      CCDS33005.1
      UniProtKB/Swiss-Prot
      Q58EY8, Q9Y2G7
      UniProtKB/TrEMBL
      D3Y2A0
      Related
      ENSP00000508019.1, ENST00000684514.1
      Conserved Domains (3) summary
      smart00349
      Location:6 → 67
      KRAB; krueppel associated box
      COG5048
      Location:156 → 509
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:440 → 460
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. NM_001320670.3 → NP_001307599.1  zinc finger protein 30 homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1. Variants 6 and 7 encode the same protein (isoform 2).
      Source sequence(s)
      AC022148, AI377404, DA802473, GU388430
      Conserved Domains (3) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:155 → 508
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:439 → 459
      ZF_C2H2; C2H2 Zn finger [structural motif]

    6. NM_001320671.3 → NP_001307600.1  zinc finger protein 30 homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1. Variants 6 and 7 encode the same protein (isoform 2).
      Source sequence(s)
      AC022148, AC093227, AI377404, AK297301, GU388430
      Conserved Domains (3) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:155 → 508
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:439 → 459
      ZF_C2H2; C2H2 Zn finger [structural motif]

    7. NM_014898.4 → NP_055713.1  zinc finger protein 30 homolog isoform 1

      See identical proteins and their annotated locations for NP_055713.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1-5 encode the same protein (isoform 1).
      Source sequence(s)
      AB023178, AC022148, AC093227, AI377404
      Consensus CDS
      CCDS33005.1
      UniProtKB/Swiss-Prot
      Q58EY8, Q9Y2G7
      UniProtKB/TrEMBL
      D3Y2A0
      Related
      ENSP00000343581.1, ENST00000351218.6
      Conserved Domains (3) summary
      smart00349
      Location:6 → 67
      KRAB; krueppel associated box
      COG5048
      Location:156 → 509
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:440 → 460
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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
      37631006..37656261 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      40432744..40458006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2G7.1 GenPept UniProtKB/Swiss-Prot:Q9Y2G7

    Gene LinkOut

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