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    ZKSCAN8 zinc finger with KRAB and SCAN domains 8 [ Homo sapiens (human) ]

    Gene ID: 7745, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZKSCAN8provided by HGNC
    Official Full Name
    zinc finger with KRAB and SCAN domains 8provided by HGNC
    Primary source
    HGNC:HGNC:12983
    See related
    Ensembl:ENSG00000198315 MIM:602240; AllianceGenome:HGNC:12983
    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
    LD5-1; ZNF192; ZSCAN40
    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 located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 9.3), ovary (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZKSCAN8 in Genome Data Viewer
    Location:
    6p22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (28141635..28159460)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (28011657..28029482)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (28109661..28127238)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 602, pseudogene Neighboring gene ZSCAN16 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:28092031-28092532 Neighboring gene zinc finger and SCAN domain containing 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24347 Neighboring gene ZKSCAN8 pseudogene 1 Neighboring gene zinc finger protein 603, pseudogene

    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. A strategy for cloning the hereditary hemochromatosis gene. Beutler E, et al. Blood Cells Mol Dis, 1995. PMID 8673473
    2. Three genes encoding zinc finger proteins on human chromosome 6p21.3: members of a new subclass of the Kruppel gene family containing the conserved SCAN box domain. Lee PL, et al. Genomics, 1997 Jul 15. PMID 9244436
    3. KAP1 promotes proliferation and metastatic progression of breast cancer cells. Addison JB, et al. Cancer Res, 2015 Jan 15. PMID 25421577, Free PMC Article
    4. The zinc finger-associated SCAN box is a conserved oligomerization domain. Williams AJ, et al. Mol Cell Biol, 1999 Dec. PMID 10567577, Free PMC Article
    5. Protein microarray analysis identifies human cellular prion protein interactors. Satoh J, et al. Neuropathol Appl Neurobiol, 2009 Feb. PMID 18482256

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein with KRAB and SCAN domains 8
    Names
    zinc finger protein 192

    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_001278119.2 → NP_001265048.1  zinc finger protein with KRAB and SCAN domains 8 isoform 1

      See identical proteins and their annotated locations for NP_001265048.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AB208793, AL358933, BC096282, BM664529
      Consensus CDS
      CCDS4645.1
      UniProtKB/Swiss-Prot
      A1L3D4, B4DYF1, Q15776, Q4VAR1, Q4VAR2, Q4VAR3, Q9H4T1
      Related
      ENSP00000402948.2, ENST00000457389.6
      Conserved Domains (4) summary
      smart00431
      Location:47 → 159
      SCAN; leucine rich region
      COG5048
      Location:315 → 564
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:436 → 456
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02581
      Location:221 → 262
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    2. NM_001278121.2 → NP_001265050.1  zinc finger protein with KRAB and SCAN domains 8 isoform 2

      See identical proteins and their annotated locations for NP_001265050.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon and an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform (2).
      Source sequence(s)
      AK302402, AL358933, BM664529
      UniProtKB/Swiss-Prot
      Q15776
      Conserved Domains (5) summary
      cd07765
      Location:33 → 71
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:128 → 377
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:249 → 269
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:135 → 157
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:318 → 341
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001278122.2 → NP_001265051.1  zinc finger protein with KRAB and SCAN domains 8 isoform 2

      See identical proteins and their annotated locations for NP_001265051.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform (2).
      Source sequence(s)
      AB208793, AL358933, BM664529
      UniProtKB/TrEMBL
      Q59HG5
      Conserved Domains (5) summary
      cd07765
      Location:33 → 71
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:128 → 377
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:249 → 269
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:135 → 157
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:318 → 341
      zf-H2C2_2; Zinc-finger double domain

    4. NM_006298.4 → NP_006289.2  zinc finger protein with KRAB and SCAN domains 8 isoform 1

      See identical proteins and their annotated locations for NP_006289.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AB208793, AL358933, BC130032, BM664529
      Consensus CDS
      CCDS4645.1
      UniProtKB/Swiss-Prot
      A1L3D4, B4DYF1, Q15776, Q4VAR1, Q4VAR2, Q4VAR3, Q9H4T1
      Related
      ENSP00000332750.5, ENST00000330236.7
      Conserved Domains (4) summary
      smart00431
      Location:47 → 159
      SCAN; leucine rich region
      COG5048
      Location:315 → 564
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:436 → 456
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02581
      Location:221 → 262
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    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
      28141635..28159460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011266.3 → XP_016866755.1  zinc finger protein with KRAB and SCAN domains 8 isoform X1

      UniProtKB/Swiss-Prot
      A1L3D4, B4DYF1, Q15776, Q4VAR1, Q4VAR2, Q4VAR3, Q9H4T1
      Conserved Domains (4) summary
      smart00431
      Location:47 → 159
      SCAN; leucine rich region
      COG5048
      Location:315 → 564
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:436 → 456
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02581
      Location:221 → 262
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    2. XM_047419315.1 → XP_047275271.1  zinc finger protein with KRAB and SCAN domains 8 isoform X1

      UniProtKB/Swiss-Prot
      A1L3D4, B4DYF1, Q15776, Q4VAR1, Q4VAR2, Q4VAR3, Q9H4T1

    3. XM_011514870.3 → XP_011513172.1  zinc finger protein with KRAB and SCAN domains 8 isoform X1

      See identical proteins and their annotated locations for XP_011513172.1

      UniProtKB/Swiss-Prot
      A1L3D4, B4DYF1, Q15776, Q4VAR1, Q4VAR2, Q4VAR3, Q9H4T1
      Conserved Domains (4) summary
      smart00431
      Location:47 → 159
      SCAN; leucine rich region
      COG5048
      Location:315 → 564
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:436 → 456
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02581
      Location:221 → 262
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    4. XM_011514874.3 → XP_011513176.1  zinc finger protein with KRAB and SCAN domains 8 isoform X2

      See identical proteins and their annotated locations for XP_011513176.1

      Conserved Domains (5) summary
      cd07765
      Location:33 → 71
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:128 → 377
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:249 → 269
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:135 → 157
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:318 → 341
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      28011657..28029482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356352.1 → XP_054212327.1  zinc finger protein with KRAB and SCAN domains 8 isoform X1

    2. XM_054356351.1 → XP_054212326.1  zinc finger protein with KRAB and SCAN domains 8 isoform X1

    3. XM_054356350.1 → XP_054212325.1  zinc finger protein with KRAB and SCAN domains 8 isoform X1

    4. XM_054356353.1 → XP_054212328.1  zinc finger protein with KRAB and SCAN domains 8 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15776.2 GenPept UniProtKB/Swiss-Prot:Q15776

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