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    ZNF485 zinc finger protein 485 [ Homo sapiens (human) ]

    Gene ID: 220992, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF485provided by HGNC
    Official Full Name
    zinc finger protein 485provided by HGNC
    Primary source
    HGNC:HGNC:23440
    See related
    Ensembl:ENSG00000198298 AllianceGenome:HGNC:23440
    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 activator 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
    Ubiquitous expression in testis (RPKM 1.0), ovary (RPKM 0.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF485 in Genome Data Viewer
    Location:
    10q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (43606438..43617904)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (44487360..44498826)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (44101886..44113352)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene coiled-coil-helix-coiled-coil-helix domain-containing protein 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2335 Neighboring gene CAP1 pseudogene 2 Neighboring gene uncharacterized LOC124902416 Neighboring gene ZNF32 antisense RNA 3 Neighboring gene ribosomal protein L21 pseudogene 88 Neighboring gene ZNF32 antisense RNA 1 Neighboring gene zinc finger protein 32

    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. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    2. 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
    3. 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
    4. Human transcription factor protein interaction networks. Göös H, et al. Nat Commun, 2022 Feb 9. PMID 35140242, Free PMC Article
    5. 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

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator 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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 485
    Names
    Zinc finger protein 93 (Zinc finger protein HTF34)

    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_001318140.2 → NP_001305069.1  zinc finger protein 485 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2 and 3 all encode the same isoform (a).
      Source sequence(s)
      AK074679, BC014161
      Consensus CDS
      CCDS7205.2
      UniProtKB/Swiss-Prot
      B4DSE6, Q8NCK3, Q96CL0
      Related
      ENSP00000363558.3, ENST00000374435.3
      Conserved Domains (5) summary
      smart00349
      Location:11 → 71
      KRAB; krueppel associated box
      COG5048
      Location:124 → 361
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:356 → 376
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:11 → 50
      KRAB; KRAB box
      pfam13465
      Location:229 → 253
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001318141.2 → NP_001305070.1  zinc finger protein 485 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 all encode the same isoform (a).
      Source sequence(s)
      AK074679, BC014161, DN994938
      Consensus CDS
      CCDS7205.2
      UniProtKB/Swiss-Prot
      B4DSE6, Q8NCK3, Q96CL0
      Conserved Domains (5) summary
      smart00349
      Location:11 → 71
      KRAB; krueppel associated box
      COG5048
      Location:124 → 361
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:356 → 376
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:11 → 50
      KRAB; KRAB box
      pfam13465
      Location:229 → 253
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001318142.2 → NP_001305071.1  zinc finger protein 485 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site and lacks an alternate exon in the 5' region, and it thus differs in its 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 4 and 5 encode isoform b.
      Source sequence(s)
      AK074679, BC014161, DB448752
      UniProtKB/Swiss-Prot
      Q8NCK3
      Conserved Domains (3) summary
      COG5048
      Location:121 → 270
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:265 → 285
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:138 → 162
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001318143.2 → NP_001305072.1  zinc finger protein 485 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site and lacks two alternate exons in the 5' region, and it thus differs in its 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 4 and 5 encode isoform b.
      Source sequence(s)
      AK074679, AK299707, BC014161
      UniProtKB/Swiss-Prot
      Q8NCK3
      Conserved Domains (3) summary
      COG5048
      Location:121 → 270
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:265 → 285
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:138 → 162
      zf-H2C2_2; Zinc-finger double domain

    5. NM_145312.4 → NP_660355.2  zinc finger protein 485 isoform a

      See identical proteins and their annotated locations for NP_660355.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 all encode the same isoform (a).
      Source sequence(s)
      AK074679, BC014161
      Consensus CDS
      CCDS7205.2
      UniProtKB/Swiss-Prot
      B4DSE6, Q8NCK3, Q96CL0
      Related
      ENSP00000354694.3, ENST00000361807.8
      Conserved Domains (5) summary
      smart00349
      Location:11 → 71
      KRAB; krueppel associated box
      COG5048
      Location:124 → 361
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:356 → 376
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:11 → 50
      KRAB; KRAB box
      pfam13465
      Location:229 → 253
      zf-H2C2_2; Zinc-finger double domain

    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
      43606438..43617904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539498.3 → XP_011537800.1  zinc finger protein 485 isoform X1

      See identical proteins and their annotated locations for XP_011537800.1

      UniProtKB/Swiss-Prot
      Q8NCK3
      Conserved Domains (3) summary
      COG5048
      Location:121 → 270
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:265 → 285
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:138 → 162
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      44487360..44498826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365100.1 → XP_054221075.1  zinc finger protein 485 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCK3.1 GenPept UniProtKB/Swiss-Prot:Q8NCK3

    Gene LinkOut

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