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

Gene ID: 26974, updated on 2-May-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 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 active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
19q13.31
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44382298..44401608, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47205074..47224384, complement)
105.20220307 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
  • 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. 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
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (7) 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_2023_10

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

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