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ZNF283 zinc finger protein 283 [ Homo sapiens (human) ]

Gene ID: 284349, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF283provided by HGNC
Official Full Name
zinc finger protein 283provided by HGNC
Primary source
HGNC:HGNC:13077
See related
Ensembl:ENSG00000167637 AllianceGenome:HGNC:13077
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
HZF19; HZF41
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
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
19q13.31
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (43827321..43852017)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (46650221..46674916)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44331473..44356169)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element KCNN4 K1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44281957-44282457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44283513-44284012 Neighboring gene potassium calcium-activated channel subfamily N member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10731 Neighboring gene CRISPRi-validated cis-regulatory element chr19.4589 Neighboring gene Sharpr-MPRA regulatory region 14970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44288851-44289352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44289353-44289852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14743 Neighboring gene LY6/PLAUR domain containing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14744 Neighboring gene zinc finger protein 404 Neighboring gene uncharacterized LOC100505715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14745

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. Isolation of cDNA clones for 42 different Krüppel-related zinc finger proteins expressed in the human monoblast cell line U-937. Abrink M, et al. DNA Cell Biol, 1995 Feb. PMID 7865130
  2. 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
  3. Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis. Jia L, et al. Genomics, 2002 Jan. PMID 11827452
  4. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Michailidou K, et al. Nat Genet, 2013 Apr. PMID 23535729, Free PMC Article
  5. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. Kumar R, et al. Nat Commun, 2017 Nov 27. PMID 29180619, 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
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
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

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
  
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 283
Names
zinc finger protein 41
zinc finger protein HZF19

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_001297752.2 → NP_001284681.1  zinc finger protein 283 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC011508, AI753038, AK294852, AY166784, BE261849
    UniProtKB/Swiss-Prot
    Q8N7M2
    UniProtKB/TrEMBL
    K7ESH0
    Conserved Domains (3) summary
    COG5048
    Location:122 → 516
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:378 → 398
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:138 → 163
    zf-H2C2_2; Zinc-finger double domain

  2. NM_181845.2 → NP_862828.1  zinc finger protein 283 isoform 1

    See identical proteins and their annotated locations for NP_862828.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC011508, DC324604, DC384756
    Consensus CDS
    CCDS46097.1
    UniProtKB/Swiss-Prot
    B4DGZ5, B7WP04, Q6RFR9, Q86WM6, Q8N7M2
    Related
    ENSP00000484852.1, ENST00000618787.5
    Conserved Domains (3) summary
    COG5048
    Location:261 → 655
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:517 → 537
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:72 → 113
    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
    43827321..43852017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438638.1 → XP_047294594.1  zinc finger protein 283 isoform X1

  2. XM_005258784.4 → XP_005258841.1  zinc finger protein 283 isoform X1

    See identical proteins and their annotated locations for XP_005258841.1

    Conserved Domains (3) summary
    COG5048
    Location:236 → 630
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:492 → 512
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:47 → 88
    KRAB; KRAB box

  3. XM_017026633.2 → XP_016882122.1  zinc finger protein 283 isoform X1

    Conserved Domains (3) summary
    COG5048
    Location:236 → 630
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:492 → 512
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:47 → 88
    KRAB; KRAB box

  4. XM_005258786.4 → XP_005258843.1  zinc finger protein 283 isoform X1

    See identical proteins and their annotated locations for XP_005258843.1

    Related
    ENSP00000498705.1, ENST00000650832.1
    Conserved Domains (3) summary
    COG5048
    Location:236 → 630
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:492 → 512
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:47 → 88
    KRAB; KRAB box

  5. XM_017026635.2 → XP_016882124.1  zinc finger protein 283 isoform X2

    Conserved Domains (5) summary
    smart00349
    Location:6 → 48
    KRAB; krueppel associated box
    COG5048
    Location:194 → 588
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:450 → 470
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:6 → 45
    KRAB; KRAB box
    pfam13465
    Location:210 → 235
    zf-H2C2_2; Zinc-finger double domain

  6. XM_017026634.2 → XP_016882123.1  zinc finger protein 283 isoform X1

    Conserved Domains (3) summary
    COG5048
    Location:236 → 630
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:492 → 512
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:47 → 88
    KRAB; KRAB box

  7. XM_005258785.4 → XP_005258842.1  zinc finger protein 283 isoform X1

    See identical proteins and their annotated locations for XP_005258842.1

    Conserved Domains (3) summary
    COG5048
    Location:236 → 630
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:492 → 512
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:47 → 88
    KRAB; KRAB box

  8. XM_047438639.1 → XP_047294595.1  zinc finger protein 283 isoform X1

  9. XM_024451460.2 → XP_024307228.1  zinc finger protein 283 isoform X1

    Conserved Domains (3) summary
    COG5048
    Location:236 → 630
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:492 → 512
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:47 → 88
    KRAB; KRAB box

  10. XM_017026636.3 → XP_016882125.1  zinc finger protein 283 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    46650221..46674916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N7M2.4 GenPept UniProtKB/Swiss-Prot:Q8N7M2

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