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    ZNF488 zinc finger protein 488 [ Homo sapiens (human) ]

    Gene ID: 118738, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF488provided by HGNC
    Official Full Name
    zinc finger protein 488provided by HGNC
    Primary source
    HGNC:HGNC:23535
    See related
    Ensembl:ENSG00000265763 AllianceGenome:HGNC:23535
    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 activity and metal ion binding activity. Predicted to be involved in oligodendrocyte development and regulation of DNA-templated transcription. Predicted to act upstream of or within negative regulation of DNA-templated transcription and positive regulation of oligodendrocyte differentiation. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in duodenum (RPKM 8.5), brain (RPKM 5.3) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF488 in Genome Data Viewer
    Location:
    10q11.22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (47365496..47384293, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (48256793..48275590, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (48355069..48373866)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene growth differentiation factor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:48402901-48403401 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:48396170-48396832 Neighboring gene retinol binding protein 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:48354663-48355162 Neighboring gene uncharacterized LOC107001062 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:48324479-48325678 Neighboring gene uncharacterized LOC124902420 Neighboring gene long intergenic non-protein coding RNA 3029

    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. Transcription factor ZNF488 accelerates cervical cancer progression through regulating the MEK/ERK signaling pathway. Weng K, et al. Histol Histopathol, 2023 Dec. PMID 36537752
    2. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article
    4. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Lim J, et al. Cell, 2006 May 19. PMID 16713569
    5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcription factor ZNF488 accelerates cervical cancer progression through regulating the MEK/ERK signaling pathway.
      Title: Transcription factor ZNF488 accelerates cervical cancer progression through regulating the MEK/ERK signaling pathway.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    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)

    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

    • FLJ32104

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oligodendrocyte development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription 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 488
    NP_001333861.1
    NP_001333862.1
    NP_001333863.1
    NP_001333864.1
    NP_001333865.1
    NP_694579.1
    XP_006717680.1
    XP_011537546.1
    XP_016871132.1
    XP_047280521.1
    XP_054220688.1
    XP_054220689.1
    XP_054220690.1
    XP_054220691.1

    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_001346932.2 → NP_001333861.1  zinc finger protein 488

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest transcript. All six variants encode the same protein.
      Source sequence(s)
      AL731561
      Consensus CDS
      CCDS73120.1
      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9
      Conserved Domains (2) summary
      sd00017
      Location:277 → 297
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13894
      Location:319 → 339
      zf-C2H2_4; C2H2-type zinc finger

    2. NM_001346933.2 → NP_001333862.1  zinc finger protein 488

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AL731561
      Consensus CDS
      CCDS73120.1
      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9
      Conserved Domains (2) summary
      sd00017
      Location:277 → 297
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13894
      Location:319 → 339
      zf-C2H2_4; C2H2-type zinc finger

    3. NM_001346934.2 → NP_001333863.1  zinc finger protein 488

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AL731561
      Consensus CDS
      CCDS73120.1
      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9
      Conserved Domains (2) summary
      sd00017
      Location:277 → 297
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13894
      Location:319 → 339
      zf-C2H2_4; C2H2-type zinc finger

    4. NM_001346935.2 → NP_001333864.1  zinc finger protein 488

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AL731561
      Consensus CDS
      CCDS73120.1
      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9
      Conserved Domains (2) summary
      sd00017
      Location:277 → 297
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13894
      Location:319 → 339
      zf-C2H2_4; C2H2-type zinc finger

    5. NM_001346936.2 → NP_001333865.1  zinc finger protein 488

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AL731561
      Consensus CDS
      CCDS73120.1
      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9
      Conserved Domains (2) summary
      sd00017
      Location:277 → 297
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13894
      Location:319 → 339
      zf-C2H2_4; C2H2-type zinc finger

    6. NM_153034.4 → NP_694579.1  zinc finger protein 488

      See identical proteins and their annotated locations for NP_694579.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All six variants encode the same protein.
      Source sequence(s)
      AL731561, BC051323
      Consensus CDS
      CCDS73120.1
      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9
      Related
      ENSP00000462269.1, ENST00000585316.3
      Conserved Domains (2) summary
      sd00017
      Location:277 → 297
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13894
      Location:319 → 339
      zf-C2H2_4; C2H2-type zinc finger

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      47365496..47384293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717617.4 → XP_006717680.1  zinc finger protein 488 isoform X1

      See identical proteins and their annotated locations for XP_006717680.1

      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9
      Conserved Domains (2) summary
      sd00017
      Location:277 → 297
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13894
      Location:319 → 339
      zf-C2H2_4; C2H2-type zinc finger

    2. XM_047424565.1 → XP_047280521.1  zinc finger protein 488 isoform X1

      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9

    3. XM_011539244.3 → XP_011537546.1  zinc finger protein 488 isoform X1

      See identical proteins and their annotated locations for XP_011537546.1

      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9
      Conserved Domains (2) summary
      sd00017
      Location:277 → 297
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13894
      Location:319 → 339
      zf-C2H2_4; C2H2-type zinc finger

    4. XM_017015643.2 → XP_016871132.1  zinc finger protein 488 isoform X1

      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9
      Conserved Domains (2) summary
      sd00017
      Location:277 → 297
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13894
      Location:319 → 339
      zf-C2H2_4; C2H2-type zinc finger

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      48256793..48275590 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364713.1 → XP_054220688.1  zinc finger protein 488 isoform X1

      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9

    2. XM_054364716.1 → XP_054220691.1  zinc finger protein 488 isoform X1

      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9

    3. XM_054364715.1 → XP_054220690.1  zinc finger protein 488 isoform X1

      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9

    4. XM_054364714.1 → XP_054220689.1  zinc finger protein 488 isoform X1

      UniProtKB/Swiss-Prot
      Q05CE0, Q96MN9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MN9.1 GenPept UniProtKB/Swiss-Prot:Q96MN9

    Gene LinkOut

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

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