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

    Gene ID: 158399, updated on 27-Nov-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, Nov 2024]
    Expression
    Biased expression in brain (RPKM 6.4), adrenal (RPKM 2.6) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF483 in Genome Data Viewer
    Location:
    9q31.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (111525179..111578136)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (123696561..123749515)
    RS_2024_09 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 (22) 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)

    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_2024_08

    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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