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    ZNF687 zinc finger protein 687 [ Homo sapiens (human) ]

    Gene ID: 57592, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ZNF687provided by HGNC
    Official Full Name
    zinc finger protein 687provided by HGNC
    Primary source
    HGNC:HGNC:29277
    See related
    Ensembl:ENSG00000143373 MIM:610568; AllianceGenome:HGNC:29277
    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
    Also known as
    PDB6
    Summary
    This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in bone marrow (RPKM 9.1), testis (RPKM 7.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF687 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151281522..151292176)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150405196..150415869)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151253998..151264652)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1713 Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 alpha Neighboring gene ReSE screen-validated silencer GRCh37_chr1:151183035-151183192 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151183741-151184733 Neighboring gene MPRA-validated peak410 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1316 Neighboring gene Sharpr-MPRA regulatory region 10214 Neighboring gene proteasome 26S subunit ubiquitin receptor, non-ATPase 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151253738-151254622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151254623-151255508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1717 Neighboring gene ZNF687 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151261481-151262132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151262133-151262782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151262783-151263433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151266030-151267013 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151267014-151267998 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151267999-151268981 Neighboring gene phosphatidylinositol 4-kinase beta Neighboring gene RNA, 7SL, cytoplasmic 444, pseudogene Neighboring gene Sharpr-MPRA regulatory region 1421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151299400-151300324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151315395-151315895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1718 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:151318990-151320189 Neighboring gene RFX5 antisense RNA 1 Neighboring gene regulatory factor X5

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FTO-mediated ZNF687 accelerates tumor growth, metastasis, and angiogenesis in colorectal cancer through the Wnt/beta-catenin pathway.
      Title: FTO-mediated ZNF687 accelerates tumor growth, metastasis, and angiogenesis in colorectal cancer through the Wnt/β-catenin pathway.
    2. Oncogenic zinc finger protein ZNF687 accelerates lung adenocarcinoma cell proliferation and tumor progression by activating the PI3K/AKT signaling pathway.
      Title: Oncogenic zinc finger protein ZNF687 accelerates lung adenocarcinoma cell proliferation and tumor progression by activating the PI3K/AKT signaling pathway.
    3. ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology.
      Title: ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology.
    4. ZNF687-mutated patients showed a severe Paget's disease of bone, with a remarkable number of affected sites
      Title: ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone.
    5. ZNF687 Expression increased in paget disease of bone Affected Individuals.
      Title: ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.
    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

    Associated conditions

    Description Tests
    Paget disease of bone 6
    MedGen: C4085250 OMIM: 616833 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat 47-59 peptide downregulates gene expression of zinc finger protein 687 (ZNF687) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1441, DKFZp781I1719

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 687

    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_051575.1 RefSeqGene

      Range
      5745..15622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304763.2 → NP_001291692.1  zinc finger protein 687

      See identical proteins and their annotated locations for NP_001291692.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest transcript. All three variants encode the same protein.
      Source sequence(s)
      AB037862, AL391069, CR749307
      Consensus CDS
      CCDS992.1
      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7
      Related
      ENSP00000319829.5, ENST00000324048.9
      Conserved Domains (3) summary
      sd00017
      Location:965 → 985
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam15909
      Location:795 → 877
      zf-C2H2_8; C2H2-type zinc ribbon
      pfam16622
      Location:1131 → 1159
      zf-C2H2_11; zinc-finger C2H2-type

    2. NM_001304764.2 → NP_001291693.1  zinc finger protein 687

      See identical proteins and their annotated locations for NP_001291693.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AL391069, BC032463, CR749307
      Consensus CDS
      CCDS992.1
      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7
      Conserved Domains (3) summary
      sd00017
      Location:965 → 985
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam15909
      Location:795 → 877
      zf-C2H2_8; C2H2-type zinc ribbon
      pfam16622
      Location:1131 → 1159
      zf-C2H2_11; zinc-finger C2H2-type

    3. NM_020832.3 → NP_065883.1  zinc finger protein 687

      See identical proteins and their annotated locations for NP_065883.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AB037862, AL391069, BC032463, CR749307
      Consensus CDS
      CCDS992.1
      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7
      Related
      ENSP00000336620.5, ENST00000336715.11
      Conserved Domains (3) summary
      sd00017
      Location:965 → 985
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam15909
      Location:795 → 877
      zf-C2H2_8; C2H2-type zinc ribbon
      pfam16622
      Location:1131 → 1159
      zf-C2H2_11; zinc-finger C2H2-type

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      151281522..151292176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245366.5 → XP_005245423.1  zinc finger protein 687 isoform X2

      Conserved Domains (3) summary
      sd00017
      Location:974 → 994
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam15909
      Location:804 → 886
      zf-C2H2_8; C2H2-type zinc ribbon
      pfam16622
      Location:1140 → 1168
      zf-C2H2_11; zinc-finger C2H2-type

    2. XM_047426167.1 → XP_047282123.1  zinc finger protein 687 isoform X5

    3. XM_047426163.1 → XP_047282119.1  zinc finger protein 687 isoform X3

      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7

    4. XM_011509812.3 → XP_011508114.1  zinc finger protein 687 isoform X3

      See identical proteins and their annotated locations for XP_011508114.1

      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7
      Conserved Domains (3) summary
      sd00017
      Location:965 → 985
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam15909
      Location:795 → 877
      zf-C2H2_8; C2H2-type zinc ribbon
      pfam16622
      Location:1131 → 1159
      zf-C2H2_11; zinc-finger C2H2-type

    5. XM_047426164.1 → XP_047282120.1  zinc finger protein 687 isoform X3

      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7

    6. XM_011509813.3 → XP_011508115.1  zinc finger protein 687 isoform X3

      See identical proteins and their annotated locations for XP_011508115.1

      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7
      Conserved Domains (3) summary
      sd00017
      Location:965 → 985
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam15909
      Location:795 → 877
      zf-C2H2_8; C2H2-type zinc ribbon
      pfam16622
      Location:1131 → 1159
      zf-C2H2_11; zinc-finger C2H2-type

    7. XM_047426162.1 → XP_047282118.1  zinc finger protein 687 isoform X1

    8. XM_011509811.3 → XP_011508113.2  zinc finger protein 687 isoform X4

    9. XM_047426166.1 → XP_047282122.1  zinc finger protein 687 isoform X3

      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7

    10. XM_047426165.1 → XP_047282121.1  zinc finger protein 687 isoform X3

      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150405196..150415869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337855.1 → XP_054193830.1  zinc finger protein 687 isoform X2

    2. XM_054337861.1 → XP_054193836.1  zinc finger protein 687 isoform X5

    3. XM_054337857.1 → XP_054193832.1  zinc finger protein 687 isoform X3

      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7

    4. XM_054337856.1 → XP_054193831.1  zinc finger protein 687 isoform X3

      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7

    5. XM_054337858.1 → XP_054193833.1  zinc finger protein 687 isoform X3

      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7

    6. XM_054337862.1 → XP_054193837.1  zinc finger protein 687 isoform X3

      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7

    7. XM_054337860.1 → XP_054193835.1  zinc finger protein 687 isoform X4

    8. XM_054337854.1 → XP_054193829.1  zinc finger protein 687 isoform X1

    9. XM_054337859.1 → XP_054193834.1  zinc finger protein 687 isoform X3

      UniProtKB/Swiss-Prot
      D3DV17, Q68DQ8, Q8N1G0, Q9H937, Q9P2A7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1G0.1 GenPept UniProtKB/Swiss-Prot:Q8N1G0

    Gene LinkOut

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

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