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

    Gene ID: 284349, updated on 27-Nov-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, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See ZNF283 in Genome Data Viewer
    Location:
    19q13.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (43827321..43852017)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (46650221..46674916)
    RS_2024_09 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)

    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_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
      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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