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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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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

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