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

Gene ID: 7745, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in endometrium (RPKM 9.3), ovary (RPKM 8.6) and 25 other tissues See more
Orthologs
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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 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)

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
  
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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