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    ZNF583 zinc finger protein 583 [ Homo sapiens (human) ]

    Gene ID: 147949, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF583provided by HGNC
    Official Full Name
    zinc finger protein 583provided by HGNC
    Primary source
    HGNC:HGNC:26427
    See related
    Ensembl:ENSG00000198440 AllianceGenome:HGNC:26427
    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
    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
    Ubiquitous expression in testis (RPKM 1.9), brain (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF583 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (56404014..56427364)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (59498414..59521793)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56915383..56938733)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SLC25A36 pseudogene 1 Neighboring gene zinc finger protein 582 Neighboring gene ZNF582 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11069 Neighboring gene zinc finger protein 667 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:56968363-56969562 Neighboring gene ZNF667 antisense RNA 1 (head to head) Neighboring gene uncharacterized LOC105372471

    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. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    2. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article
    3. Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. Viard J, et al. Life Sci Alliance, 2022 Aug 1. PMID 35914814, Free PMC Article
    4. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article
    5. 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

    See all (9) 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

    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

    Clone Names

    • FLJ31030, MGC133237

    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 583
    Names
    zinc finger protein L3-5

    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_001159860.2 → NP_001153332.1  zinc finger protein 583

      See identical proteins and their annotated locations for NP_001153332.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC006116, AK055592, BC111772, DA407197
      Consensus CDS
      CCDS12943.1
      UniProtKB/Swiss-Prot
      O14850, Q2NKK3, Q96ND8
      Related
      ENSP00000291598.7, ENST00000291598.11
      Conserved Domains (3) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:209 → 542
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:214 → 234
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001159861.2 → NP_001153333.1  zinc finger protein 583

      See identical proteins and their annotated locations for NP_001153333.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC006116, AK055592, BC111772, DA942855
      Consensus CDS
      CCDS12943.1
      UniProtKB/Swiss-Prot
      O14850, Q2NKK3, Q96ND8
      Conserved Domains (3) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:209 → 542
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:214 → 234
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_152478.3 → NP_689691.2  zinc finger protein 583

      See identical proteins and their annotated locations for NP_689691.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC006116, AK055592, BC111772, DA785623
      Consensus CDS
      CCDS12943.1
      UniProtKB/Swiss-Prot
      O14850, Q2NKK3, Q96ND8
      Related
      ENSP00000388502.2, ENST00000333201.13
      Conserved Domains (3) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:209 → 542
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:214 → 234
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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
      56404014..56427364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438234.1 → XP_047294190.1  zinc finger protein 583 isoform X1

    2. XM_017026350.2 → XP_016881839.1  zinc finger protein 583 isoform X3

      UniProtKB/Swiss-Prot
      O14850, Q2NKK3, Q96ND8
      Conserved Domains (3) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:209 → 542
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:214 → 234
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. XM_017026349.2 → XP_016881838.1  zinc finger protein 583 isoform X1

    4. XM_011526517.3 → XP_011524819.1  zinc finger protein 583 isoform X3

      See identical proteins and their annotated locations for XP_011524819.1

      UniProtKB/Swiss-Prot
      O14850, Q2NKK3, Q96ND8
      Conserved Domains (3) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:209 → 542
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:214 → 234
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. XM_047438235.1 → XP_047294191.1  zinc finger protein 583 isoform X1

    6. XM_024451383.2 → XP_024307151.1  zinc finger protein 583 isoform X3

      UniProtKB/Swiss-Prot
      O14850, Q2NKK3, Q96ND8
      Conserved Domains (3) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:209 → 542
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:214 → 234
      ZF_C2H2; C2H2 Zn finger [structural motif]

    7. XM_017026346.3 → XP_016881835.1  zinc finger protein 583 isoform X1

    8. XM_017026347.3 → XP_016881836.1  zinc finger protein 583 isoform X1

    9. XM_017026348.2 → XP_016881837.1  zinc finger protein 583 isoform X1

    10. XM_005258558.2 → XP_005258615.1  zinc finger protein 583 isoform X2

      Conserved Domains (5) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:210 → 543
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:215 → 235
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 46
      KRAB; KRAB box
      pfam13465
      Location:255 → 280
      zf-H2C2_2; Zinc-finger double domain

    11. XM_047438236.1 → XP_047294192.1  zinc finger protein 583 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      59498414..59521793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319929.1 → XP_054175904.1  zinc finger protein 583 isoform X3

      UniProtKB/Swiss-Prot
      O14850, Q2NKK3, Q96ND8

    2. XM_054319923.1 → XP_054175898.1  zinc finger protein 583 isoform X1

    3. XM_054319930.1 → XP_054175905.1  zinc finger protein 583 isoform X3

      UniProtKB/Swiss-Prot
      O14850, Q2NKK3, Q96ND8

    4. XM_054319927.1 → XP_054175902.1  zinc finger protein 583 isoform X1

    5. XM_054319928.1 → XP_054175903.1  zinc finger protein 583 isoform X3

      UniProtKB/Swiss-Prot
      O14850, Q2NKK3, Q96ND8

    6. XM_054319922.1 → XP_054175897.1  zinc finger protein 583 isoform X1

    7. XM_054319924.1 → XP_054175899.1  zinc finger protein 583 isoform X1

    8. XM_054319926.1 → XP_054175901.1  zinc finger protein 583 isoform X1

    9. XM_054319925.1 → XP_054175900.1  zinc finger protein 583 isoform X2

    10. XM_054319931.1 → XP_054175906.1  zinc finger protein 583 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96ND8.2 GenPept UniProtKB/Swiss-Prot:Q96ND8

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