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ZNF483 zinc finger protein 483 [ Homo sapiens (human) ]

Gene ID: 158399, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF483provided by HGNC
Official Full Name
zinc finger protein 483provided by HGNC
Primary source
HGNC:HGNC:23384
See related
Ensembl:ENSG00000173258 AllianceGenome:HGNC:23384
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
Also known as
ZSCAN48; ZKSCAN16
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, Apr 2022]
Expression
Biased expression in brain (RPKM 6.4), adrenal (RPKM 2.6) and 13 other tissues See more
Orthologs
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Genomic context

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Location:
9q31.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (111525179..111578136)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (123696561..123749515)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (114287459..114340416)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 2 subfamily K member 2 Neighboring gene Ecm29 proteasome adaptor and scaffold Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:114161623-114162149 Neighboring gene RNA, 5S ribosomal pseudogene 294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:114233029-114233528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28793 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:114288123-114288622 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:114292004-114292628 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105867 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105871 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105889 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105891 Neighboring gene prostaglandin reductase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:114361778-114362350 Neighboring gene leucine rich repeat containing 37 member A5, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:114379051-114379784 Neighboring gene uncharacterized LOC107987116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28794

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. Genome-wide association study of age at menarche in African-American women. Demerath EW, et al. Hum Mol Genet, 2013 Aug 15. PMID 23599027, Free PMC Article
  2. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Cousminer DL, et al. Hum Mol Genet, 2013 Jul 1. PMID 23449627, Free PMC Article
  3. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Elks CE, et al. Nat Genet, 2010 Dec. PMID 21102462, Free PMC Article
  4. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
  5. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. Gorbea C, et al. J Biol Chem, 2010 Oct 8. PMID 20682791, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

EBI GWAS Catalog

Description
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
EBI GWAS Catalog
Genome-wide association study of age at menarche in African-American women.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
EBI GWAS Catalog

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 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 483
Names
zinc finger protein HIT-10
zinc finger protein with KRAB and SCAN domains 16

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_001007169.6 → NP_001007170.1  zinc finger protein 483 isoform b

    See identical proteins and their annotated locations for NP_001007170.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform b, which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL135787, AL159168
    Consensus CDS
    CCDS35105.1
    UniProtKB/Swiss-Prot
    Q8TF39
    Related
    ENSP00000350871.4, ENST00000358151.8
    Conserved Domains (3) summary
    smart00349
    Location:171 → 229
    KRAB; krueppel associated box
    pfam01352
    Location:171 → 209
    KRAB; KRAB box
    pfam02023
    Location:49 → 136
    SCAN; SCAN domain

  2. NM_133464.5 → NP_597721.2  zinc finger protein 483 isoform a

    See identical proteins and their annotated locations for NP_597721.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL159168
    Consensus CDS
    CCDS35106.1
    UniProtKB/Swiss-Prot
    Q5VZN2, Q8NAE1, Q8TF39
    Related
    ENSP00000311679.5, ENST00000309235.6
    Conserved Domains (8) summary
    smart00431
    Location:49 → 152
    SCAN; leucine rich region
    smart00349
    Location:171 → 229
    KRAB; krueppel associated box
    COG5048
    Location:437 → 735
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:469 → 489
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:579 → 601
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:171 → 209
    KRAB; KRAB box
    pfam02023
    Location:49 → 136
    SCAN; SCAN domain
    pfam13465
    Location:650 → 674
    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    111525179..111578136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422864.1 → XP_047278820.1  zinc finger protein 483 isoform X2

  2. XM_017014337.2 → XP_016869826.1  zinc finger protein 483 isoform X1

    UniProtKB/Swiss-Prot
    Q5VZN2, Q8NAE1, Q8TF39
    Conserved Domains (8) summary
    smart00431
    Location:49 → 152
    SCAN; leucine rich region
    smart00349
    Location:171 → 229
    KRAB; krueppel associated box
    COG5048
    Location:437 → 735
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:469 → 489
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:579 → 601
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:171 → 209
    KRAB; KRAB box
    pfam02023
    Location:49 → 136
    SCAN; SCAN domain
    pfam13465
    Location:650 → 674
    zf-H2C2_2; Zinc-finger double domain

  3. XM_017014338.2 → XP_016869827.1  zinc finger protein 483 isoform X1

    UniProtKB/Swiss-Prot
    Q5VZN2, Q8NAE1, Q8TF39
    Conserved Domains (8) summary
    smart00431
    Location:49 → 152
    SCAN; leucine rich region
    smart00349
    Location:171 → 229
    KRAB; krueppel associated box
    COG5048
    Location:437 → 735
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:469 → 489
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:579 → 601
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:171 → 209
    KRAB; KRAB box
    pfam02023
    Location:49 → 136
    SCAN; SCAN domain
    pfam13465
    Location:650 → 674
    zf-H2C2_2; Zinc-finger double domain

  4. XM_047422863.1 → XP_047278819.1  zinc finger protein 483 isoform X1

    UniProtKB/Swiss-Prot
    Q5VZN2, Q8NAE1, Q8TF39

  5. XM_017014339.2 → XP_016869828.1  zinc finger protein 483 isoform X3

    UniProtKB/TrEMBL
    Q6P088
    Related
    ENSP00000438048.1, ENST00000355824.7
    Conserved Domains (2) summary
    smart00349
    Location:171 → 229
    KRAB; krueppel associated box
    pfam02023
    Location:49 → 136
    SCAN; SCAN domain

  6. XM_011518300.3 → XP_011516602.1  zinc finger protein 483 isoform X1

    See identical proteins and their annotated locations for XP_011516602.1

    UniProtKB/Swiss-Prot
    Q5VZN2, Q8NAE1, Q8TF39
    Conserved Domains (8) summary
    smart00431
    Location:49 → 152
    SCAN; leucine rich region
    smart00349
    Location:171 → 229
    KRAB; krueppel associated box
    COG5048
    Location:437 → 735
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:469 → 489
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:579 → 601
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:171 → 209
    KRAB; KRAB box
    pfam02023
    Location:49 → 136
    SCAN; SCAN domain
    pfam13465
    Location:650 → 674
    zf-H2C2_2; Zinc-finger double domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    123696561..123749515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362151.1 → XP_054218126.1  zinc finger protein 483 isoform X2

  2. XM_054362147.1 → XP_054218122.1  zinc finger protein 483 isoform X1

    UniProtKB/Swiss-Prot
    Q5VZN2, Q8NAE1, Q8TF39

  3. XM_054362149.1 → XP_054218124.1  zinc finger protein 483 isoform X1

    UniProtKB/Swiss-Prot
    Q5VZN2, Q8NAE1, Q8TF39

  4. XM_054362148.1 → XP_054218123.1  zinc finger protein 483 isoform X1

    UniProtKB/Swiss-Prot
    Q5VZN2, Q8NAE1, Q8TF39

  5. XM_054362152.1 → XP_054218127.1  zinc finger protein 483 isoform X3

    UniProtKB/TrEMBL
    Q6P088

  6. XM_054362150.1 → XP_054218125.1  zinc finger protein 483 isoform X1

    UniProtKB/Swiss-Prot
    Q5VZN2, Q8NAE1, Q8TF39
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TF39.3 GenPept UniProtKB/Swiss-Prot:Q8TF39

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