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    ZNF595 zinc finger protein 595 [ Homo sapiens (human) ]

    Gene ID: 152687, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF595provided by HGNC
    Official Full Name
    zinc finger protein 595provided by HGNC
    Primary source
    HGNC:HGNC:27196
    See related
    Ensembl:ENSG00000272602 AllianceGenome:HGNC:27196
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular processes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]
    Expression
    Ubiquitous expression in placenta (RPKM 5.3), ovary (RPKM 4.1) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF595 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (53321..88208)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (52753..87637)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (53215..88096)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:53076-54017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:54018-54958 Neighboring gene WEE1 pseudogene 1 Neighboring gene uncharacterized LOC124900641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21124 Neighboring gene zinc finger protein 718

    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. Zinc finger domains: hypotheses and current knowledge. Berg JM. Annu Rev Biophys Biophys Chem, 1990. PMID 2114117
    2. Cys2His2 zinc finger protein family: classification, functions, and major members. Razin SV, et al. Biochemistry (Mosc), 2012 Mar. PMID 22803940
    3. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    4. A comprehensive resource of interacting protein regions for refining human transcription factor networks. Miyamoto-Sato E, et al. PLoS One, 2010 Feb 24. PMID 20195357, Free PMC Article
    5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

    See all (14) 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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    Markers

    Homology

    Clone Names

    • FLJ18385, FLJ31740

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 595

    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_033822.1 RefSeqGene

      Range
      5037..39924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286052.2 → NP_001272981.1  zinc finger protein 595 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AC253576, AK300505, BX537887
      Consensus CDS
      CCDS75076.1
      UniProtKB/TrEMBL
      A0A075B7G4
      Related
      ENSP00000476408.2, ENST00000609518.5
      Conserved Domains (5) summary
      smart00349
      Location:4 → 60
      KRAB; krueppel associated box
      COG5048
      Location:166 → 567
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:338 → 358
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:211 → 235
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001286053.2 → NP_001272982.1  zinc finger protein 595 isoform c

      See identical proteins and their annotated locations for NP_001272982.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a portion of the 5' coding reigon and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      AC253576, AK301848, BX537887, DA746784
      Consensus CDS
      CCDS75077.1
      UniProtKB/TrEMBL
      A0A075B7G3
      Related
      ENSP00000476367.2, ENST00000608255.2
      Conserved Domains (3) summary
      COG5048
      Location:15 → 416
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:187 → 207
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:60 → 84
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001286054.2 → NP_001272983.1  zinc finger protein 595 isoform c

      See identical proteins and their annotated locations for NP_001272983.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      AC253576, BX537887, DA746784, DA888845
      Consensus CDS
      CCDS75077.1
      UniProtKB/TrEMBL
      A0A075B7G3
      Conserved Domains (3) summary
      COG5048
      Location:15 → 416
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:187 → 207
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:60 → 84
      zf-H2C2_2; Zinc-finger double domain

    4. NM_182524.4 → NP_872330.1  zinc finger protein 595 isoform a

      See identical proteins and their annotated locations for NP_872330.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC253576, BX537887, DA746784
      Consensus CDS
      CCDS75075.1
      UniProtKB/Swiss-Prot
      Q7Z3I0, Q8IYB9
      Related
      ENSP00000477392.1, ENST00000610261.6
      Conserved Domains (3) summary
      smart00349
      Location:4 → 64
      KRAB; krueppel associated box
      COG5048
      Location:198 → 599
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:370 → 390
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      53321..88208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      52753..87637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349014.1 → XP_054204989.1  zinc finger protein 595 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYB9.2 GenPept UniProtKB/Swiss-Prot:Q8IYB9

    Gene LinkOut

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

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