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    ZNF76 zinc finger protein 76 [ Homo sapiens (human) ]

    Gene ID: 7629, updated on 14-Nov-2024

    Summary

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    Official Symbol
    ZNF76provided by HGNC
    Official Full Name
    zinc finger protein 76provided by HGNC
    Primary source
    HGNC:HGNC:13149
    See related
    Ensembl:ENSG00000065029 MIM:194549; AllianceGenome:HGNC:13149
    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
    ZNF523; Zfp523; D6S229E
    Summary
    Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.0), testis (RPKM 11.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF76 in Genome Data Viewer
    Location:
    6p21.31
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (35259533..35295985)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (35082556..35119066)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35227512..35263762)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112267955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17084 Neighboring gene SCUBE3 antisense RNA 1 Neighboring gene signal peptide, CUB domain and EGF like domain containing 3 Neighboring gene Sharpr-MPRA regulatory region 1078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17085 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:35211069-35212268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17087 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:35253595-35254794 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35263932-35264096 Neighboring gene Sharpr-MPRA regulatory region 9100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35280323-35280822 Neighboring gene DEF6 guanine nucleotide exchange factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24399 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35328305-35329201 Neighboring gene peroxisome proliferator activated receptor delta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35351066-35351668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35359676-35360244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35378432-35378965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35378966-35379498

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biochemical study of ZNF76 rs10947540 and SCUBE3 rs1888822 single nucleotide polymorphisms in the Egyptian patients with systemic lupus Erythematosus.
      Title: Biochemical study of ZNF76 rs10947540 and SCUBE3 rs1888822 single nucleotide polymorphisms in the Egyptian patients with systemic lupus Erythematosus.
    2. ZNF76 predicts prognosis and response to platinum chemotherapy in human ovarian cancer.
      Title: ZNF76 predicts prognosis and response to platinum chemotherapy in human ovarian cancer.
    3. The ZNF76 rs10947540 polymorphism associated with systemic lupus erythematosus risk in Chinese populations.
      Title: The ZNF76 rs10947540 polymorphism associated with systemic lupus erythematosus risk in Chinese populations.
    4. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
    6. ZNF76 functions as a transcriptional repressor through its interaction with TBP and sumoylation modulates its transcriptional repression activity
      Title: ZNF76, a novel transcriptional repressor targeting TATA-binding protein, is modulated by sumoylation.
    7. Our study shows that ZNF76, a TBP-interacting transcriptional modulator, is regulated by both lysine modifications and alternative splicing.
      Title: Acetylation and alternative splicing regulate ZNF76-mediated transcription.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    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)

    Pathways from PubChem

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    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase III TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 76
    Names
    zinc finger protein 523
    zinc finger protein 76 (expressed in testis)

    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_001292032.2 → NP_001278961.1  zinc finger protein 76 isoform 2

      See identical proteins and their annotated locations for NP_001278961.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BE962441, DC299240, M91592, Z97832
      Consensus CDS
      CCDS75435.1
      Related
      ENSP00000344097.5, ENST00000339411.5
      Conserved Domains (4) summary
      COG5048
      Location:192 → 250
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:167 → 189
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:212 → 238
      zf-H2C2_2; Zinc-finger double domain
      pfam17017
      Location:225 → 346
      zf-C2H2_aberr; Aberrant zinc-finger

    2. NM_003427.5 → NP_003418.2  zinc finger protein 76 isoform 1

      See identical proteins and their annotated locations for NP_003418.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC002549, BE962441, DC299240, Z97832
      Consensus CDS
      CCDS4801.1
      UniProtKB/Swiss-Prot
      P36508, Q9BQB2
      Related
      ENSP00000363064.3, ENST00000373953.8
      Conserved Domains (4) summary
      COG5048
      Location:179 → 366
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:106 → 220
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:167 → 189
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl28087
      Location:279 → 483
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      35259533..35295985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011249.3 → XP_016866738.1  zinc finger protein 76 isoform X2

      UniProtKB/Swiss-Prot
      P36508, Q9BQB2
      Conserved Domains (4) summary
      COG5048
      Location:179 → 366
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:106 → 220
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:167 → 189
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl28087
      Location:279 → 483
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]

    2. XM_017011256.2 → XP_016866745.1  zinc finger protein 76 isoform X9

      Conserved Domains (4) summary
      COG5048
      Location:192 → 250
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:167 → 189
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:212 → 238
      zf-H2C2_2; Zinc-finger double domain
      pfam17017
      Location:225 → 346
      zf-C2H2_aberr; Aberrant zinc-finger

    3. XM_047419300.1 → XP_047275256.1  zinc finger protein 76 isoform X1

    4. XM_047419305.1 → XP_047275261.1  zinc finger protein 76 isoform X6

    5. XM_047419307.1 → XP_047275263.1  zinc finger protein 76 isoform X11

      Related
      ENSP00000419106.1, ENST00000469195.5

    6. XM_047419302.1 → XP_047275258.1  zinc finger protein 76 isoform X4

    7. XM_047419299.1 → XP_047275255.1  zinc finger protein 76 isoform X1

    8. XM_047419304.1 → XP_047275260.1  zinc finger protein 76 isoform X6

    9. XM_047419301.1 → XP_047275257.1  zinc finger protein 76 isoform X3

    10. XM_047419306.1 → XP_047275262.1  zinc finger protein 76 isoform X10

    11. XM_017011255.2 → XP_016866744.1  zinc finger protein 76 isoform X8

    12. XM_047419303.1 → XP_047275259.1  zinc finger protein 76 isoform X5

    13. XM_011514856.4 → XP_011513158.1  zinc finger protein 76 isoform X7

      Conserved Domains (4) summary
      COG5048
      Location:132 → 190
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:107 → 129
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:152 → 178
      zf-H2C2_2; Zinc-finger double domain
      pfam17017
      Location:165 → 286
      zf-C2H2_aberr; Aberrant zinc-finger

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      35082556..35119066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356318.1 → XP_054212293.1  zinc finger protein 76 isoform X2

      UniProtKB/Swiss-Prot
      P36508, Q9BQB2

    2. XM_054356326.1 → XP_054212301.1  zinc finger protein 76 isoform X9

    3. XM_054356317.1 → XP_054212292.1  zinc finger protein 76 isoform X1

    4. XM_054356323.1 → XP_054212298.1  zinc finger protein 76 isoform X6

    5. XM_054356328.1 → XP_054212303.1  zinc finger protein 76 isoform X11

    6. XM_054356320.1 → XP_054212295.1  zinc finger protein 76 isoform X4

    7. XM_054356316.1 → XP_054212291.1  zinc finger protein 76 isoform X1

    8. XM_054356322.1 → XP_054212297.1  zinc finger protein 76 isoform X6

    9. XM_054356319.1 → XP_054212294.1  zinc finger protein 76 isoform X3

    10. XM_054356327.1 → XP_054212302.1  zinc finger protein 76 isoform X10

    11. XM_054356325.1 → XP_054212300.1  zinc finger protein 76 isoform X8

    12. XM_054356321.1 → XP_054212296.1  zinc finger protein 76 isoform X5

    13. XM_054356324.1 → XP_054212299.1  zinc finger protein 76 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36508.2 GenPept UniProtKB/Swiss-Prot:P36508

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