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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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See ZKSCAN5 in Genome Data Viewer
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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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

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