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

Gene ID: 118738, updated on 5-Mar-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; positive regulation of myelination; and regulation of transcription, DNA-templated. Predicted to act upstream of or within negative regulation of transcription, DNA-templated and positive regulation of oligodendrocyte differentiation. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in duodenum (RPKM 8.5), brain (RPKM 5.3) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
10q11.22
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (47365496..47384293, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (48256793..48275590, complement)
105.20220307 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
  • 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. ZNF488 Promotes the Invasion and Migration of Pancreatic Carcinoma Cells through the Akt/mTOR Pathway. Qiu H, et al. Comput Math Methods Med, 2022. PMID 35111235, Free PMC Article
  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

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_2023_10

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

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