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

Gene ID: 152687, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (53321..88208)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (52753..87637)
105.20220307 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. 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
  4. 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
  5. 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

See all (13) 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

  • 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_2023_10

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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