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    ZKSCAN7 zinc finger with KRAB and SCAN domains 7 [ Homo sapiens (human) ]

    Gene ID: 55888, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ZKSCAN7provided by HGNC
    Official Full Name
    zinc finger with KRAB and SCAN domains 7provided by HGNC
    Primary source
    HGNC:HGNC:12955
    See related
    Ensembl:ENSG00000196345 AllianceGenome:HGNC:12955
    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
    ZFP; ZNF64; ZNF167; ZNF448; ZSCAN39
    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, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 2.4), testis (RPKM 2.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3p21.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (44555193..44583483)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (44570938..44599205)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (44596685..44624975)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 852 pseudogene Neighboring gene Sharpr-MPRA regulatory region 15293 Neighboring gene EI24 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:44598251-44598752 Neighboring gene ZKSCAN7 ZNF cluster antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:44622134-44622634 Neighboring gene ZNF660-ZNF197 readthrough Neighboring gene myosin phosphatase Rho interacting protein pseudogene 1 Neighboring gene zinc finger protein 660 Neighboring gene ZNF197 antisense RNA 1

    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. Positional cloning of cDNAs from the human chromosome 3p21-22 region identifies a clustered organization of zinc-finger genes. Calabrò V, et al. Hum Genet, 1995 Jan. PMID 7814019
    2. Characterization and mapping of human genes encoding zinc finger proteins. Bray P, et al. Proc Natl Acad Sci U S A, 1991 Nov 1. PMID 1946370, Free PMC Article
    3. Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. Lichter P, et al. Genomics, 1992 Aug. PMID 1505991
    4. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. Dart AE, et al. J Cell Biol, 2015 Nov 23. PMID 26598620, Free PMC Article
    5. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 complexes in mammalian cells. Vandamme J, et al. Mol Cell Proteomics, 2011 Apr. PMID 21282530, Free PMC Article

    See all (19) 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

    Clone Names

    • FLJ12738

    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
    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 with KRAB and SCAN domains 7
    Names
    zinc finger protein 167
    zinc finger protein 448
    zinc finger protein 64

    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_001288590.2 → NP_001275519.1  zinc finger protein with KRAB and SCAN domains 7 isoform 1

      See identical proteins and their annotated locations for NP_001275519.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AK291285, AY280798
      Consensus CDS
      CCDS2715.1
      UniProtKB/Swiss-Prot
      A0PJV3, A8K5H0, Q6WL09, Q96FQ2, Q9P0L1
      Related
      ENSP00000395524.1, ENST00000426540.6
      Conserved Domains (7) summary
      smart00431
      Location:51 → 161
      SCAN; leucine rich region
      cd07765
      Location:231 → 270
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:380 → 738
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:637 → 657
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:383 → 405
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:51 → 138
      SCAN; SCAN domain
      pfam13465
      Location:677 → 701
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001288591.2 → NP_001275520.1  zinc finger protein with KRAB and SCAN domains 7 isoform 2

      See identical proteins and their annotated locations for NP_001275520.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2 and 4 both encode the same isoform (2).
      Source sequence(s)
      AC099669, AK291285, BC010555, BC063020, BC120982
      Consensus CDS
      CCDS2714.1
      UniProtKB/TrEMBL
      Q0VAN9
      Related
      ENSP00000416681.1, ENST00000431636.5
      Conserved Domains (3) summary
      smart00431
      Location:51 → 161
      SCAN; leucine rich region
      cd07765
      Location:231 → 270
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      pfam02023
      Location:51 → 138
      SCAN; SCAN domain

    3. NM_001288592.2 → NP_001275521.1  zinc finger protein with KRAB and SCAN domains 7 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has multiple differences in the 5' UTR, 3' UTR, and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus, lacks a single internal aa, and has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC099669, AK291285, BC010555, BC148260
      Consensus CDS
      CCDS74924.1
      UniProtKB/TrEMBL
      C9J6L6
      Related
      ENSP00000405034.1, ENST00000447279.2
      Conserved Domains (5) summary
      cd07765
      Location:81 → 120
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:229 → 291
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:234 → 254
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:232 → 254
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:250 → 271
      zf-H2C2_2; Zinc-finger double domain

    4. NM_018651.4 → NP_061121.2  zinc finger protein with KRAB and SCAN domains 7 isoform 1

      See identical proteins and their annotated locations for NP_061121.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AY280798, DA787920
      Consensus CDS
      CCDS2715.1
      UniProtKB/Swiss-Prot
      A0PJV3, A8K5H0, Q6WL09, Q96FQ2, Q9P0L1
      Related
      ENSP00000273320.3, ENST00000273320.7
      Conserved Domains (7) summary
      smart00431
      Location:51 → 161
      SCAN; leucine rich region
      cd07765
      Location:231 → 270
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:380 → 738
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:637 → 657
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:383 → 405
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:51 → 138
      SCAN; SCAN domain
      pfam13465
      Location:677 → 701
      zf-H2C2_2; Zinc-finger double domain

    5. NM_025169.3 → NP_079445.1  zinc finger protein with KRAB and SCAN domains 7 isoform 2

      See identical proteins and their annotated locations for NP_079445.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2 and 4 both encode the same isoform (2).
      Source sequence(s)
      AC099669, BC010555, BC063020, DA787920
      Consensus CDS
      CCDS2714.1
      UniProtKB/TrEMBL
      Q0VAN9
      Related
      ENSP00000345404.3, ENST00000341840.7
      Conserved Domains (3) summary
      smart00431
      Location:51 → 161
      SCAN; leucine rich region
      cd07765
      Location:231 → 270
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      pfam02023
      Location:51 → 138
      SCAN; SCAN 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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      44555193..44583483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448582.1 → XP_047304538.1  zinc finger protein with KRAB and SCAN domains 7 isoform X3

    2. XM_047448581.1 → XP_047304537.1  zinc finger protein with KRAB and SCAN domains 7 isoform X3

    3. XM_047448579.1 → XP_047304535.1  zinc finger protein with KRAB and SCAN domains 7 isoform X1

    4. XM_047448578.1 → XP_047304534.1  zinc finger protein with KRAB and SCAN domains 7 isoform X1

    5. XM_047448580.1 → XP_047304536.1  zinc finger protein with KRAB and SCAN domains 7 isoform X2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646197.1 Reference GRCh38.p14 PATCHES

      Range
      80547..108837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331545.1 → XP_054187520.1  zinc finger protein with KRAB and SCAN domains 7 isoform X3

    2. XM_054331543.1 → XP_054187518.1  zinc finger protein with KRAB and SCAN domains 7 isoform X1

    3. XM_054331542.1 → XP_054187517.1  zinc finger protein with KRAB and SCAN domains 7 isoform X1

    4. XM_054331544.1 → XP_054187519.1  zinc finger protein with KRAB and SCAN domains 7 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      44570938..44599205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347263.1 → XP_054203238.1  zinc finger protein with KRAB and SCAN domains 7 isoform X3

    2. XM_054347261.1 → XP_054203236.1  zinc finger protein with KRAB and SCAN domains 7 isoform X1

    3. XM_054347260.1 → XP_054203235.1  zinc finger protein with KRAB and SCAN domains 7 isoform X1

    4. XM_054347262.1 → XP_054203237.1  zinc finger protein with KRAB and SCAN domains 7 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P0L1.2 GenPept UniProtKB/Swiss-Prot:Q9P0L1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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