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    ZKSCAN5 zinc finger with KRAB and SCAN domains 5 [ Homo sapiens (human) ]

    Gene ID: 23660, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZKSCAN5provided by HGNC
    Official Full Name
    zinc finger with KRAB and SCAN domains 5provided by HGNC
    Primary source
    HGNC:HGNC:12867
    See related
    Ensembl:ENSG00000196652 MIM:611272; AllianceGenome:HGNC:12867
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZFP95; ZFP-95; ZNF914; ZSCAN37
    Summary
    This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is differentially expressed in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in testis (RPKM 4.7), brain (RPKM 2.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99504662..99534700)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100739627..100773622)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99102285..99132323)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26317 Neighboring gene tRNA-Trp (anticodon CCA) 5-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26319 Neighboring gene zinc finger protein 789 Neighboring gene zinc finger protein 394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99096344-99097012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26323 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99106467-99106660 Neighboring gene zinc finger protein 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26324 Neighboring gene uncharacterized LOC105375422 Neighboring gene family with sequence similarity 200 member A

    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. Telomere length, ZNF208 genetic variants and risk of chronic obstructive pulmonary disease in the Hainan Li population. Ding Y, et al. J Gene Med, 2018 Dec. PMID 30397981
    2. Isolation, characterization, and mapping of a zinc finger gene, ZFP95, containing both a SCAN box and an alternatively spliced KRAB A domain. Dreyer SD, et al. Genomics, 1999 Nov 15. PMID 10585779
    3. Macaca specific exon creation event generates a novel ZKSCAN5 transcript. Kim YH, et al. Gene, 2016 Feb 15. PMID 26657034
    4. Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms. Zhai G, et al. PLoS Genet, 2011 Apr. PMID 21533175, Free PMC Article
    5. Sequence diversity and haplotype structure at the human CYP3A cluster. Thompson EE, et al. Pharmacogenomics J, 2006 Mar-Apr. PMID 16314882

    See all (26) 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

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.
    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

    Clone Names

    • FLJ39233, KIAA1015, MGC33710

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein with KRAB and SCAN domains 5
    Names
    zinc finger protein 95 homolog
    zinc finger protein homologous to Zfp95 in mouse

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001318082.2 → NP_001305011.1  zinc finger protein with KRAB and SCAN domains 5 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
      Source sequence(s)
      AB023232, AC005020, AF170025, BC030790, CA311067, DA572286
      Consensus CDS
      CCDS5667.1
      UniProtKB/Swiss-Prot
      A4D280, D6W5S9, Q9Y2L8
      Related
      ENSP00000392104.1, ENST00000451158.5
      Conserved Domains (7) summary
      smart00431
      Location:46 → 155
      SCAN; leucine rich region
      COG5048
      Location:318 → 762
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:551 → 571
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:549 → 571
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:222 → 257
      KRAB; KRAB box
      pfam02023
      Location:47 → 134
      SCAN; SCAN domain
      pfam13465
      Location:388 → 411
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001318083.2 → NP_001305012.1  zinc finger protein with KRAB and SCAN domains 5 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5'-terminal exon and lacks an in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AB023232, AC005020, AF170025, CA311067, CX163381, DA572286
      UniProtKB/Swiss-Prot
      Q9Y2L8
      Conserved Domains (6) summary
      smart00431
      Location:46 → 155
      SCAN; leucine rich region
      COG5048
      Location:245 → 689
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:478 → 498
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:476 → 498
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:47 → 134
      SCAN; SCAN domain
      pfam13465
      Location:315 → 338
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001318084.1 → NP_001305013.1  zinc finger protein with KRAB and SCAN domains 5 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR and coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AB023232, BC030790, BX648490, CA311067
      UniProtKB/Swiss-Prot
      Q9Y2L8
      UniProtKB/TrEMBL
      Q8N718
      Conserved Domains (3) summary
      COG5048
      Location:275 → 573
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:287 → 307
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:124 → 148
      zf-H2C2_2; Zinc-finger double domain

    4. NM_014569.4 → NP_055384.1  zinc finger protein with KRAB and SCAN domains 5 isoform a

      See identical proteins and their annotated locations for NP_055384.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, and 3 encode the same isoform.
      Source sequence(s)
      AB023232, AC005020, AF170025, AK027714, CA311067, DA044307
      Consensus CDS
      CCDS5667.1
      UniProtKB/Swiss-Prot
      A4D280, D6W5S9, Q9Y2L8
      Related
      ENSP00000377725.2, ENST00000394170.6
      Conserved Domains (7) summary
      smart00431
      Location:46 → 155
      SCAN; leucine rich region
      COG5048
      Location:318 → 762
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:551 → 571
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:549 → 571
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:222 → 257
      KRAB; KRAB box
      pfam02023
      Location:47 → 134
      SCAN; SCAN domain
      pfam13465
      Location:388 → 411
      zf-H2C2_2; Zinc-finger double domain

    5. NM_145102.4 → NP_659570.1  zinc finger protein with KRAB and SCAN domains 5 isoform a

      See identical proteins and their annotated locations for NP_659570.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
      Source sequence(s)
      AB023232, AC005020, AF170025, CA311067, DA580238
      Consensus CDS
      CCDS5667.1
      UniProtKB/Swiss-Prot
      A4D280, D6W5S9, Q9Y2L8
      Related
      ENSP00000322872.5, ENST00000326775.10
      Conserved Domains (7) summary
      smart00431
      Location:46 → 155
      SCAN; leucine rich region
      COG5048
      Location:318 → 762
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:551 → 571
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:549 → 571
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:222 → 257
      KRAB; KRAB box
      pfam02023
      Location:47 → 134
      SCAN; SCAN domain
      pfam13465
      Location:388 → 411
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      99504662..99534700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011921.3 → XP_016867410.1  zinc finger protein with KRAB and SCAN domains 5 isoform X1

    2. XM_017011922.2 → XP_016867411.1  zinc finger protein with KRAB and SCAN domains 5 isoform X1

    3. XM_017011924.2 → XP_016867413.1  zinc finger protein with KRAB and SCAN domains 5 isoform X2

      Conserved Domains (6) summary
      smart00431
      Location:46 → 155
      SCAN; leucine rich region
      COG5048
      Location:245 → 689
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:478 → 498
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:476 → 498
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:47 → 134
      SCAN; SCAN domain
      pfam13465
      Location:315 → 338
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      100739627..100773622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357733.1 → XP_054213708.1  zinc finger protein with KRAB and SCAN domains 5 isoform X3

      UniProtKB/Swiss-Prot
      A4D280, D6W5S9, Q9Y2L8

    2. XM_054357736.1 → XP_054213711.1  zinc finger protein with KRAB and SCAN domains 5 isoform X2

    3. XM_054357735.1 → XP_054213710.1  zinc finger protein with KRAB and SCAN domains 5 isoform X1

    4. XM_054357734.1 → XP_054213709.1  zinc finger protein with KRAB and SCAN domains 5 isoform X1

    5. XM_054357737.1 → XP_054213712.1  zinc finger protein with KRAB and SCAN domains 5 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2L8.1 GenPept UniProtKB/Swiss-Prot:Q9Y2L8

    Gene LinkOut

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