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

Gene ID: 57592, updated on 22-Apr-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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Location:
1q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151281522..151292176)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150405196..150415869)
105.20220307 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
  • 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. Oncogenic zinc finger protein ZNF687 accelerates lung adenocarcinoma cell proliferation and tumor progression by activating the PI3K/AKT signaling pathway. Li M, et al. Thorac Cancer, 2023 May. PMID 36944484, Free PMC Article
  2. ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology. Scotto di Carlo F, et al. J Bone Miner Res, 2020 Oct. PMID 32106343
  3. ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone. Divisato G, et al. Clin Genet, 2018 Jun. PMID 29493781
  4. ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. Divisato G, et al. Am J Hum Genet, 2016 Feb 4. PMID 26849110, Free PMC Article
  5. Cross-linking mass spectrometry reveals the structural topology of peripheral NuRD subunits relative to the core complex. Spruijt CG, et al. FEBS J, 2021 May. PMID 33283408, Free PMC Article

See all (64) citations in PubMed

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
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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

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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NEW Try the new Transcript table

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_2023_10

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

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