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    ZNF607 zinc finger protein 607 [ Homo sapiens (human) ]

    Gene ID: 84775, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF607provided by HGNC
    Official Full Name
    zinc finger protein 607provided by HGNC
    Primary source
    HGNC:HGNC:28192
    See related
    Ensembl:ENSG00000198182 AllianceGenome:HGNC:28192
    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
    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 located in mitochondrial inner membrane and plasma membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.1), thyroid (RPKM 2.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF607 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (37696363..37719761, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (40498113..40521515, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38187264..38210662, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 781 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38186077-38186752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38187429-38188103 Neighboring gene selenoprotein K pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10558 Neighboring gene zinc finger protein 573 Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:38269714-38270377 and GRCh37_chr19:38270378-38271040 Neighboring gene uncharacterized LOC105372394 Neighboring gene IST1 homolog

    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. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. Oguri M, et al. Am J Hypertens, 2010 Jan. PMID 19851296
    2. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Abraham CG, et al. Cell Rep, 2018 Sep 18. PMID 30232004, Free PMC Article
    3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. Yoshida T, et al. Int J Mol Med, 2010 Apr. PMID 20198315
    4. 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
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    Submit: New GeneRIF Correction

    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

    • FLJ14802, MGC13071

    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 607

    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_001172677.1 → NP_001166148.1  zinc finger protein 607 isoform 2

      See identical proteins and their annotated locations for NP_001166148.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (2) lacks one internal amino acid, compared to isoform 1.
      Source sequence(s)
      AC093227
      Consensus CDS
      CCDS54259.1
      UniProtKB/Swiss-Prot
      Q96SK3
      Related
      ENSP00000438015.1, ENST00000395835.7
      Conserved Domains (3) summary
      smart00349
      Location:7 → 66
      KRAB; krueppel associated box
      COG5048
      Location:222 → 618
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:450 → 470
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001375895.1 → NP_001362824.1  zinc finger protein 607 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC093227
      Consensus CDS
      CCDS54259.1
      Conserved Domains (3) summary
      smart00349
      Location:7 → 66
      KRAB; krueppel associated box
      COG5048
      Location:222 → 618
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:450 → 470
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_032689.5 → NP_116078.4  zinc finger protein 607 isoform 1

      See identical proteins and their annotated locations for NP_116078.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC093227
      Consensus CDS
      CCDS33006.1
      UniProtKB/Swiss-Prot
      F5H141, Q6ZMN2, Q6ZMN4, Q96C40, Q96SK3
      Related
      ENSP00000347338.2, ENST00000355202.9
      Conserved Domains (5) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:279 → 687
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:451 → 471
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 45
      KRAB; KRAB box
      pfam13465
      Location:407 → 432
      zf-H2C2_2; Zinc-finger double domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      37696363..37719761 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439553.1 → XP_047295509.1  zinc finger protein 607 isoform X2

    2. XM_047439552.1 → XP_047295508.1  zinc finger protein 607 isoform X2

    3. XM_006723435.5 → XP_006723498.1  zinc finger protein 607 isoform X1

      See identical proteins and their annotated locations for XP_006723498.1

      UniProtKB/Swiss-Prot
      F5H141, Q6ZMN2, Q6ZMN4, Q96C40, Q96SK3
      Conserved Domains (5) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:279 → 687
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:451 → 471
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 45
      KRAB; KRAB box
      pfam13465
      Location:407 → 432
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      40498113..40521515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322408.1 → XP_054178383.1  zinc finger protein 607 isoform X2

    2. XM_054322407.1 → XP_054178382.1  zinc finger protein 607 isoform X2

    3. XM_054322406.1 → XP_054178381.1  zinc finger protein 607 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SK3.3 GenPept UniProtKB/Swiss-Prot:Q96SK3

    Gene LinkOut

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

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