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    ZNF285 zinc finger protein 285 [ Homo sapiens (human) ]

    Gene ID: 26974, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF285provided by HGNC
    Official Full Name
    zinc finger protein 285provided by HGNC
    Primary source
    HGNC:HGNC:13079
    See related
    Ensembl:ENSG00000267508 AllianceGenome:HGNC:13079
    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
    Also known as
    ZNF285A
    Summary
    Predicted to enable DNA binding activity and metal ion binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 3.0), testis (RPKM 1.8) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF285 in Genome Data Viewer
    Location:
    19q13.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44382298..44401608, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47205074..47224384, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44886460..44905774, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 235 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:44808961-44809514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44810091-44810592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44810593-44811092 Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 pseudogene 1 Neighboring gene zinc finger protein 112 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:44860641-44861141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44905171-44905927 Neighboring gene MPRA-validated peak3499 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr19:44937098-44937334 Neighboring gene zinc finger protein 229 Neighboring gene zinc finger protein 285B, pseudogene

    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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    Related articles in PubMed

    1. Differential expansion of zinc-finger transcription factor loci in homologous human and mouse gene clusters. Shannon M, et al. Genome Res, 2003 Jun. PMID 12743021, Free PMC Article
    2. A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. Meng W, et al. Invest Ophthalmol Vis Sci, 2012 Dec 5. PMID 23049088
    3. A GO catalogue of human DNA-binding transcription factors. Lovering RC, et al. Biochim Biophys Acta Gene Regul Mech, 2021 Nov-Dec. PMID 34673265
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) 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

    EBI GWAS Catalog

    Description
    A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
    EBI GWAS Catalog

    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

    • FLJ30747, FLJ55559

    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 nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 285
    Names
    zinc finger protein 285A

    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_001291488.2 → NP_001278417.1  zinc finger protein 285 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC245748, BC117302, BC143984, BM987858, DA949487
      Consensus CDS
      CCDS74389.1
      UniProtKB/TrEMBL
      K7EIK6
      Related
      ENSP00000464788.1, ENST00000591679.5
      Conserved Domains (6) summary
      smart00349
      Location:15 → 52
      KRAB; krueppel associated box
      COG5048
      Location:236 → 569
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:381 → 401
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:519 → 541
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:15 → 54
      KRAB; KRAB box
      pfam13465
      Location:393 → 418
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001291489.2 → NP_001278418.1  zinc finger protein 285 isoform b

      See identical proteins and their annotated locations for NP_001278418.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform 1. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AC245748, BC117302, BM987858, DA793212, DA949487
      Consensus CDS
      CCDS12638.1
      UniProtKB/Swiss-Prot
      Q17RJ3, Q6B0A8, Q6ISR5, Q96NJ3
      Related
      ENSP00000439431.2, ENST00000544719.6
      Conserved Domains (3) summary
      COG5048
      Location:229 → 562
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:374 → 394
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box

    3. NM_001291490.2 → NP_001278419.1  zinc finger protein 285 isoform c

      See identical proteins and their annotated locations for NP_001278419.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform a. Variants 4 and 5 encode the same isoform (c).
      Source sequence(s)
      AC245748
      UniProtKB/Swiss-Prot
      Q96NJ3
      Conserved Domains (3) summary
      COG5048
      Location:74 → 407
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:219 → 239
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:231 → 256
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001291491.2 → NP_001278420.1  zinc finger protein 285 isoform c

      See identical proteins and their annotated locations for NP_001278420.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two alternate exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform a. Variants 4 and 5 encode the same isoform (c).
      Source sequence(s)
      AC245748, BC117302, BM987858, DA202784
      UniProtKB/Swiss-Prot
      Q96NJ3
      Conserved Domains (3) summary
      COG5048
      Location:74 → 407
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:219 → 239
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:231 → 256
      zf-H2C2_2; Zinc-finger double domain

    5. NM_152354.6 → NP_689567.4  zinc finger protein 285 isoform b

      See identical proteins and their annotated locations for NP_689567.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform 1. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AC245748, BC117302, BM987858, DA949487
      Consensus CDS
      CCDS12638.1
      UniProtKB/Swiss-Prot
      Q17RJ3, Q6B0A8, Q6ISR5, Q96NJ3
      Related
      ENSP00000483662.1, ENST00000614994.5
      Conserved Domains (3) summary
      COG5048
      Location:229 → 562
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:374 → 394
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box

    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
      44382298..44401608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      47205074..47224384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96NJ3.3 GenPept UniProtKB/Swiss-Prot:Q96NJ3

    Gene LinkOut

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

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