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Aliases for ZC3HC1 Gene

Aliases for ZC3HC1 Gene

  • Zinc Finger C3HC-Type Containing 1 2 3 5
  • NIPA 3 4
  • Nuclear Interacting Partner Of Anaplastic Lymphoma Kinase (ALK) 3
  • Nuclear-Interacting Partner Of Anaplastic Lymphoma Kinase 4
  • Hematopoietic Stem/Progenitor Cell Protein 216 3
  • Nuclear Interaction Partner Of ALK 2
  • Nuclear-Interacting Partner Of ALK 3
  • Zinc Finger C3HC-Type Protein 1 4
  • HSPC216 3
  • HNIPA 4

External Ids for ZC3HC1 Gene

Previous GeneCards Identifiers for ZC3HC1 Gene

  • GC07M129253
  • GC07M129445
  • GC07M129658
  • GC07M124019

Summaries for ZC3HC1 Gene

Entrez Gene Summary for ZC3HC1 Gene

  • This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires the interaction of the proteins cyclin B1 and cyclin-dependent kinase 1. The activated ubiquitin ligase complex targets the protein cyclin B1 for degradation, preventing this transition to mitosis. [provided by RefSeq, Aug 2013]

GeneCards Summary for ZC3HC1 Gene

ZC3HC1 (Zinc Finger C3HC-Type Containing 1) is a Protein Coding gene. Among its related pathways are DNA Damage and Apoptosis and Autophagy. GO annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot for ZC3HC1 Gene

  • Essential component of an SCF-type E3 ligase complex, SCF(NIPA), a complex that controls mitotic entry by mediating ubiquitination and subsequent degradation of cyclin B1 (CCNB1). Its cell-cycle-dependent phosphorylation regulates the assembly of the SCF(NIPA) complex, restricting CCNB1 ubiquitination activity to interphase. Its inactivation results in nuclear accumulation of CCNB1 in interphase and premature mitotic entry. May have an antiapoptotic role in NPM-ALK-mediated signaling events.

Gene Wiki entry for ZC3HC1 Gene

Additional gene information for ZC3HC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZC3HC1 Gene

Genomics for ZC3HC1 Gene

Regulatory Elements for ZC3HC1 Gene

Enhancers for ZC3HC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H130024 1.3 Ensembl ENCODE 18.8 +25.6 25565 2 HDGF PKNOX1 ATF1 ARNT ZNF766 GATA2 ELK1 ATF7 FOS DEK ZC3HC1 ENSG00000244036 UBE2H ENSG00000199516 ENSG00000243230 GC07P130029 GC07M129961
GH07H130667 1 ENCODE 10.9 -617.1 -617061 2 HDGF PKNOX1 ATF1 ARID4B SIN3A GLI4 ZNF2 ZNF766 GLIS2 ELK1 COPG2 ZC3HC1 MKLN1 CPA5 PIR53705
GH07H130127 0.9 ENCODE dbSUPER 11.4 -76.5 -76467 1 BCOR SMARCE1 ZNF592 ZNF664 NFIC GATA3 ZNF316 SMARCA4 GATA2 KDM1A ZC3HC1 KLHDC10 COPG2 CPA2 PIR32855
GH07H130008 1.6 FANTOM5 Ensembl ENCODE 5.7 +41.6 41580 3 PKNOX1 ARNT ARID4B SIN3A ZNF766 ZNF143 ZNF207 FOS JUNB REST ENSG00000199516 UBE2H TNPO3 KLHDC10 ZC3HC1 ENSG00000273319 NRF1 GC07P130029 GC07M129961
GH07H130050 1.1 ENCODE 6.5 +0.2 202 1 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000270953 TMEM209 ENSG00000243230 ZC3HC1 GC07P130037
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZC3HC1 on UCSC Golden Path with GeneCards custom track

Promoters for ZC3HC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000217936 251 1201 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for ZC3HC1 Gene

Chromosome:
7
Start:
130,018,286 bp from pter
End:
130,051,451 bp from pter
Size:
33,166 bases
Orientation:
Minus strand

Genomic View for ZC3HC1 Gene

Genes around ZC3HC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZC3HC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZC3HC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZC3HC1 Gene

Proteins for ZC3HC1 Gene

  • Protein details for ZC3HC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WB0-NIPA_HUMAN
    Recommended name:
    Nuclear-interacting partner of ALK
    Protein Accession:
    Q86WB0
    Secondary Accessions:
    • A6NH66
    • Q75MF3
    • Q75MF4
    • Q8N330
    • Q96F75
    • Q9HA34
    • Q9NVX4
    • Q9P0R0

    Protein attributes for ZC3HC1 Gene

    Size:
    502 amino acids
    Molecular mass:
    55262 Da
    Quaternary structure:
    • Interacts with the NPM-ALK fusion protein in a tyrosine phosphorylation-dependent manner. Interacts with SKP1. Component of a SCF(NIPA) E3 complex with SKP1, RBX1 and CUL1 when not phosphorylated on Ser-354. Interacts with CCNB1.
    SequenceCaution:
    • Sequence=AAF36136.1; Type=Frameshift; Positions=93, 187, 220; Evidence={ECO:0000305}; Sequence=AAH28917.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAS07546.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAS07547.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ZC3HC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZC3HC1 Gene

Post-translational modifications for ZC3HC1 Gene

  • Phosphorylated. Phosphorylated on Ser residues at G2/M phase, but not during S and G0 phases. May also be weakly phosphorylated on Tyr residues. Ser-354 phosphorylation, a major site during the course of cell-cycle-dedendent phosphorylation, results in its dissociation from the SCF(NIPA) complex, thereby preventing CCNB1 degradation leading to mitotic entry.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZC3HC1 Gene

Domains & Families for ZC3HC1 Gene

Gene Families for ZC3HC1 Gene

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

Protein Domains for ZC3HC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q86WB0

UniProtKB/Swiss-Prot:

NIPA_HUMAN :
  • The F-box-like region is required for the interaction with SKP1.
Domain:
  • The F-box-like region is required for the interaction with SKP1.
genes like me logo Genes that share domains with ZC3HC1: view

Function for ZC3HC1 Gene

Molecular function for ZC3HC1 Gene

UniProtKB/Swiss-Prot Function:
Essential component of an SCF-type E3 ligase complex, SCF(NIPA), a complex that controls mitotic entry by mediating ubiquitination and subsequent degradation of cyclin B1 (CCNB1). Its cell-cycle-dependent phosphorylation regulates the assembly of the SCF(NIPA) complex, restricting CCNB1 ubiquitination activity to interphase. Its inactivation results in nuclear accumulation of CCNB1 in interphase and premature mitotic entry. May have an antiapoptotic role in NPM-ALK-mediated signaling events.

Phenotypes From GWAS Catalog for ZC3HC1 Gene

Gene Ontology (GO) - Molecular Function for ZC3HC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16105984
GO:0008270 zinc ion binding IEA --
GO:0019901 protein kinase binding IPI 16105984
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZC3HC1: view
genes like me logo Genes that share phenotypes with ZC3HC1: view

Animal Models for ZC3HC1 Gene

MGI Knock Outs for ZC3HC1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZC3HC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ZC3HC1 Gene

Localization for ZC3HC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZC3HC1 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 ZC3HC1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZC3HC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with ZC3HC1: view

Pathways & Interactions for ZC3HC1 Gene

SuperPathways for ZC3HC1 Gene

SuperPathway Contained pathways
1 Apoptosis and Autophagy
2 DNA Damage
genes like me logo Genes that share pathways with ZC3HC1: view

Pathways by source for ZC3HC1 Gene

2 Cell Signaling Technology pathways for ZC3HC1 Gene

UniProtKB/Swiss-Prot Q86WB0-NIPA_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for ZC3HC1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ZC3HC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0016567 protein ubiquitination IEA --
GO:0051301 cell division IEA --
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA --
genes like me logo Genes that share ontologies with ZC3HC1: view

Drugs & Compounds for ZC3HC1 Gene

No Compound Related Data Available

Transcripts for ZC3HC1 Gene

Unigene Clusters for ZC3HC1 Gene

Zinc finger, C3HC-type containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZC3HC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ZC3HC1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: -
SP5: - - - - - -
SP6: - - - - - - -
SP7: - -
SP8: - -
SP9: - - -

Relevant External Links for ZC3HC1 Gene

GeneLoc Exon Structure for
ZC3HC1
ECgene alternative splicing isoforms for
ZC3HC1

Expression for ZC3HC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZC3HC1 Gene

Protein differential expression in normal tissues from HIPED for ZC3HC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZC3HC1 Gene



Protein tissue co-expression partners for ZC3HC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZC3HC1 Gene:

ZC3HC1

SOURCE GeneReport for Unigene cluster for ZC3HC1 Gene:

Hs.194157

mRNA Expression by UniProt/SwissProt for ZC3HC1 Gene:

Q86WB0-NIPA_HUMAN
Tissue specificity: Widely expressed. Highly expressed in heart, skeletal muscle and testis. Expressed in brain, placenta, lung, kidney, liver, pancreas, spleen, thymus, prostate, ovary small intestine and colon. Weakly or not expressed in leukocytes.

Evidence on tissue expression from TISSUES for ZC3HC1 Gene

  • Blood(4.3)
  • Kidney(4.3)
  • Liver(4.1)
  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with ZC3HC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZC3HC1 Gene

Orthologs for ZC3HC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZC3HC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZC3HC1 33 34
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
-- 34
  • 91 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ZC3HC1 33 34
  • 89.75 (n)
rat
(Rattus norvegicus)
Mammalia Zc3hc1 33
  • 84.33 (n)
mouse
(Mus musculus)
Mammalia Zc3hc1 33 16 34
  • 84.06 (n)
oppossum
(Monodelphis domestica)
Mammalia ZC3HC1 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZC3HC1 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZC3HC1 33 34
  • 65.83 (n)
lizard
(Anolis carolinensis)
Reptilia ZC3HC1 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zc3hc1 33
  • 59.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68711 33
zebrafish
(Danio rerio)
Actinopterygii zc3hc1 33 34
  • 56.11 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8987 34
  • 23 (a)
OneToOne
Species where no ortholog for ZC3HC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZC3HC1 Gene

ENSEMBL:
Gene Tree for ZC3HC1 (if available)
TreeFam:
Gene Tree for ZC3HC1 (if available)

Paralogs for ZC3HC1 Gene

(1) SIMAP similar genes for ZC3HC1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with ZC3HC1: view

No data available for Paralogs for ZC3HC1 Gene

Variants for ZC3HC1 Gene

Sequence variations from dbSNP and Humsavar for ZC3HC1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000003960 -- 130,033,737(+) GTGAG(A/C)CACCA intron-variant
rs1000147544 -- 130,048,041(+) CCAAT(A/G)GCCAG intron-variant
rs1000484053 -- 130,049,599(+) GAGTG(A/C)AACGG intron-variant
rs1000519987 -- 130,040,728(+) TTGAG(A/C)CCAGG intron-variant
rs1000589619 -- 130,021,569(+) GTAAA(A/G)TAATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ZC3HC1 Gene

Variant ID Type Subtype PubMed ID
esv2665890 CNV deletion 23128226
esv2735152 CNV deletion 23290073
esv3615015 CNV loss 21293372
esv3615016 CNV gain 21293372
nsv510968 OTHER complex 20534489
nsv824305 CNV loss 20364138
nsv831129 CNV loss 17160897
nsv957068 CNV deletion 24416366

Variation tolerance for ZC3HC1 Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.41; 94.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZC3HC1 Gene

Human Gene Mutation Database (HGMD)
ZC3HC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZC3HC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZC3HC1 Gene

Disorders for ZC3HC1 Gene

Relevant External Links for ZC3HC1

Genetic Association Database (GAD)
ZC3HC1
Human Genome Epidemiology (HuGE) Navigator
ZC3HC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZC3HC1

No disorders were found for ZC3HC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZC3HC1 Gene

Publications for ZC3HC1 Gene

  1. Identification and characterization of a nuclear interacting partner of anaplastic lymphoma kinase (NIPA). (PMID: 12748172) Ouyang T … Duyster J (The Journal of biological chemistry 2003) 3 4 22 60
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 60
  3. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 45 60
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 60
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60

Products for ZC3HC1 Gene

Sources for ZC3HC1 Gene

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