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Aliases for ZKSCAN1 Gene

Aliases for ZKSCAN1 Gene

  • Zinc Finger With KRAB And SCAN Domains 1 2 3 5
  • Zinc Finger Protein 36 (KOX 18) 2 3
  • Zinc Finger Protein 139 3 4
  • ZNF139 3 4
  • ZNF36 3 4
  • KOX18 3 4
  • Zinc Finger Protein With KRAB And SCAN Domains 1 3
  • Zinc Finger Protein KOX18 4
  • Zinc Finger Protein 36 4
  • ZSCAN33 3
  • PHZ-37 3

External Ids for ZKSCAN1 Gene

Previous HGNC Symbols for ZKSCAN1 Gene

  • ZNF139
  • ZNF36

Previous GeneCards Identifiers for ZKSCAN1 Gene

  • GC07P099261
  • GC07P099451
  • GC07P099616
  • GC07P094248

Summaries for ZKSCAN1 Gene

Entrez Gene Summary for ZKSCAN1 Gene

  • This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown to form stable and abundant circular RNAs. Elevated expression of this gene has been observed in gastric cancer and the encoded protein may stimulate migration and invasion of human gastric cancer cells. [provided by RefSeq, Oct 2016]

GeneCards Summary for ZKSCAN1 Gene

ZKSCAN1 (Zinc Finger With KRAB And SCAN Domains 1) is a Protein Coding gene. Diseases associated with ZKSCAN1 include Split-Hand/Foot Malformation 1. Among its related pathways are Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA binding transcription factor activity. An important paralog of this gene is ZKSCAN8.

UniProtKB/Swiss-Prot for ZKSCAN1 Gene

  • May be involved in transcriptional regulation.

Gene Wiki entry for ZKSCAN1 Gene

Additional gene information for ZKSCAN1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZKSCAN1 Gene

Genomics for ZKSCAN1 Gene

GeneHancer (GH) Regulatory Elements for ZKSCAN1 Gene

Promoters and enhancers for ZKSCAN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I100014 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.0 1000 3.4 PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B ZKSCAN1 ZSCAN25 TRIM4 SRRT PPP1R35 AP4M1 ZNF655 SMURF1 ZNF3 ZNF394
GH07I100427 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.4 +417.6 417627 10.8 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 PPP1R35 MEPCE PIR54054 ZCWPW1 ZSCAN25 TRIM4 SRRT GIGYF1 ZNF3 PILRA
GH07I100076 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.5 +64.5 64531 6.7 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ZNF3 AP4M1 ZSCAN25 SRRT TRIM4 PPP1R35 MEPCE ZNF655 SMURF1 MBLAC1
GH07I100581 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.4 +569.1 569095 5.9 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC ZFP41 MEF2D SSRP1 ZNF610 FBXO24 LRCH4 ZSCAN25 AP4M1 ZSCAN21 SRRT SAP25 MEPCE PPP1R35 GIGYF1
GH07I100886 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.4 +873.8 873756 5.2 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 GC07M100887 UFSP1 TRIM4 SRRT ZNF3 GIGYF1 PPP1R35 STAG3L5P PCOLCE ACHE
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZKSCAN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZKSCAN1 gene promoter:

Genomic Locations for ZKSCAN1 Gene

Genomic Locations for ZKSCAN1 Gene
chr7:100,015,572-100,045,143
(GRCh38/hg38)
Size:
29,572 bases
Orientation:
Plus strand
chr7:99,613,204-99,639,312
(GRCh37/hg19)

Genomic View for ZKSCAN1 Gene

Genes around ZKSCAN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZKSCAN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZKSCAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZKSCAN1 Gene

Proteins for ZKSCAN1 Gene

  • Protein details for ZKSCAN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17029-ZKSC1_HUMAN
    Recommended name:
    Zinc finger protein with KRAB and SCAN domains 1
    Protein Accession:
    P17029
    Secondary Accessions:
    • A4D294
    • P52745
    • Q2M1U1
    • Q8TBW5
    • Q8TEK7

    Protein attributes for ZKSCAN1 Gene

    Size:
    563 amino acids
    Molecular mass:
    63630 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC50264.1; Type=Frameshift; Positions=241; Evidence={ECO:0000305};

neXtProt entry for ZKSCAN1 Gene

Post-translational modifications for ZKSCAN1 Gene

  • Ubiquitination at posLast=181181 and posLast=478478

No data available for DME Specific Peptides for ZKSCAN1 Gene

Domains & Families for ZKSCAN1 Gene

Gene Families for ZKSCAN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

P17029

UniProtKB/Swiss-Prot:

ZKSC1_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZKSCAN1: view

Function for ZKSCAN1 Gene

Molecular function for ZKSCAN1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ZKSCAN1 Gene

Gene Ontology (GO) - Molecular Function for ZKSCAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity NAS,IEA 7557990
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZKSCAN1: view
genes like me logo Genes that share phenotypes with ZKSCAN1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZKSCAN1 Gene

Localization for ZKSCAN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZKSCAN1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZKSCAN1 gene
Compartment Confidence
nucleus 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nuclear bodies (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZKSCAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA,NAS 7557990
genes like me logo Genes that share ontologies with ZKSCAN1: view

Pathways & Interactions for ZKSCAN1 Gene

SuperPathways for ZKSCAN1 Gene

SuperPathway Contained pathways
1 Gene Expression
genes like me logo Genes that share pathways with ZKSCAN1: view

Pathways by source for ZKSCAN1 Gene

2 Reactome pathways for ZKSCAN1 Gene

Gene Ontology (GO) - Biological Process for ZKSCAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS,IEA 7557990
genes like me logo Genes that share ontologies with ZKSCAN1: view

No data available for SIGNOR curated interactions for ZKSCAN1 Gene

Drugs & Compounds for ZKSCAN1 Gene

(1) Drugs for ZKSCAN1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 2430
genes like me logo Genes that share compounds with ZKSCAN1: view

Transcripts for ZKSCAN1 Gene

mRNA/cDNA for ZKSCAN1 Gene

Unigene Clusters for ZKSCAN1 Gene

Zinc finger with KRAB and SCAN domains 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZKSCAN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: -
SP2: - -
SP3: -
SP4: -

Relevant External Links for ZKSCAN1 Gene

GeneLoc Exon Structure for
ZKSCAN1
ECgene alternative splicing isoforms for
ZKSCAN1

Expression for ZKSCAN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZKSCAN1 Gene

Protein differential expression in normal tissues from HIPED for ZKSCAN1 Gene

This gene is overexpressed in Plasma (24.9), Islet of Langerhans (13.9), and Pancreas (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZKSCAN1 Gene



Protein tissue co-expression partners for ZKSCAN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZKSCAN1 Gene:

ZKSCAN1

SOURCE GeneReport for Unigene cluster for ZKSCAN1 Gene:

Hs.615360

Evidence on tissue expression from TISSUES for ZKSCAN1 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Spleen(4.3)
  • Lung(4.2)
  • Stomach(2.3)
genes like me logo Genes that share expression patterns with ZKSCAN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZKSCAN1 Gene

Orthologs for ZKSCAN1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ZKSCAN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZKSCAN1 33 34
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia ZKSCAN1 33 34
  • 89.88 (n)
cow
(Bos Taurus)
Mammalia ZKSCAN1 33 34
  • 87.69 (n)
mouse
(Mus musculus)
Mammalia Zkscan1 33 16 34
  • 86.07 (n)
rat
(Rattus norvegicus)
Mammalia Zkscan1 33
  • 85.8 (n)
oppossum
(Monodelphis domestica)
Mammalia ZKSCAN1 34
  • 79 (a)
OneToOne
Species where no ortholog for ZKSCAN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ZKSCAN1 Gene

ENSEMBL:
Gene Tree for ZKSCAN1 (if available)
TreeFam:
Gene Tree for ZKSCAN1 (if available)

Paralogs for ZKSCAN1 Gene

(515) SIMAP similar genes for ZKSCAN1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ZKSCAN1: view

Variants for ZKSCAN1 Gene

Sequence variations from dbSNP and Humsavar for ZKSCAN1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs193920886 uncertain-significance, Malignant tumor of prostate 100,033,959(+) G/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000094701 -- 100,035,060(+) G/A 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs1000162849 -- 100,032,242(+) A/C intron_variant
rs1000170649 -- 100,017,111(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000231357 -- 100,038,657(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ZKSCAN1 Gene

Variant ID Type Subtype PubMed ID
esv23518 CNV gain 19812545
esv2734888 CNV deletion 23290073
esv32694 CNV loss 17666407
nsv433391 CNV gain 18776910
nsv469687 CNV loss 16826518
nsv510966 OTHER complex 20534489
nsv819817 CNV loss 19587683

Variation tolerance for ZKSCAN1 Gene

Residual Variation Intolerance Score: 47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.49; 29.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZKSCAN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZKSCAN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZKSCAN1 Gene

Disorders for ZKSCAN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZKSCAN1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
split-hand/foot malformation 1
  • shfm1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZKSCAN1

genes like me logo Genes that share disorders with ZKSCAN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZKSCAN1 Gene

Publications for ZKSCAN1 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  3. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PMID: 12693554) Jikuya H … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2003) 3 4 58
  4. Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders. (PMID: 7557990) Tommerup N … Vissing H (Genomics 1995) 3 4 58
  5. Multiple genes encoding zinc finger domains are expressed in human T cells. (PMID: 2288909) Thiesen HJ (The New biologist 1990) 3 4 58

Products for ZKSCAN1 Gene

Sources for ZKSCAN1 Gene

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