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Aliases for CCNB1IP1 Gene

Aliases for CCNB1IP1 Gene

  • Cyclin B1 Interacting Protein 1 2 3 5
  • Human Enhancer Of Invasion 10 2 3 4
  • Cyclin B1 Interacting Protein 1, E3 Ubiquitin Protein Ligase 2 3
  • RING-Type E3 Ubiquitin Transferase CCNB1IP1 3 4
  • C14orf18 3 4
  • HEI10 3 4
  • E3 Ubiquitin-Protein Ligase CCNB1IP1 3
  • Chromosome 14 Open Reading Frame 18 2
  • Cyclin-B1-Interacting Protein 1 4
  • EC 2.3.2.27 4

External Ids for CCNB1IP1 Gene

Previous HGNC Symbols for CCNB1IP1 Gene

  • C14orf18

Previous GeneCards Identifiers for CCNB1IP1 Gene

  • GC14M018770
  • GC14M018771
  • GC14M019849
  • GC14M020779
  • GC14M000901

Summaries for CCNB1IP1 Gene

Entrez Gene Summary for CCNB1IP1 Gene

  • HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]

GeneCards Summary for CCNB1IP1 Gene

CCNB1IP1 (Cyclin B1 Interacting Protein 1) is a Protein Coding gene. Among its related pathways are Integrated Breast Cancer Pathway. Gene Ontology (GO) annotations related to this gene include ligase activity.

UniProtKB/Swiss-Prot for CCNB1IP1 Gene

  • Ubiquitin E3 ligase that acts as a limiting factor for crossing-over during meiosis: required during zygonema to limit the colocalization of RNF212 with MutS-gamma-associated recombination sites and thereby establish early differentiation of crossover and non-crossover sites. Later, it is directed by MutL-gamma to stably accumulate at designated crossover sites. Probably promotes the dissociation of RNF212 and MutS-gamma to allow the progression of recombination and the implementation of the final steps of crossing over (By similarity). Modulates cyclin-B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis.

  • E3 ubiquitin-protein ligase. Modulates cyclin B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis.

Gene Wiki entry for CCNB1IP1 Gene

Additional gene information for CCNB1IP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCNB1IP1 Gene

Genomics for CCNB1IP1 Gene

GeneHancer (GH) Regulatory Elements for CCNB1IP1 Gene

Promoters and enhancers for CCNB1IP1 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
GH14I020331 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 560.8 +0.4 423 2.6 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 FOS CCNB1IP1 HNRNPC APEX1 ENSG00000258768 GC14M020327 SNORD126
GH14I020334 Enhancer 0.4 FANTOM5 550.8 -1.6 -1606 0.1 ZBTB17 CCNB1IP1 RPPH1
GH14I020468 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.5 -138.4 -138417 5.9 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 PNP SUPT16H METTL17 TEP1 CHD8 APEX1 HNRNPC ENSG00000260830 TTC5 RNASE10
GH14I020453 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.8 -122.2 -122231 3.9 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 SP3 NFYC OSGEP APEX1 SUPT16H METTL17 ENSG00000258515 TEP1 TTC5 PIP4P1 ZNF219 PNP
GH14I020609 Promoter/Enhancer 1.6 Ensembl ENCODE 10.8 -276.5 -276538 1.8 PKNOX1 MLX ARNT ARID4B NEUROD1 SIN3A ZNF2 IRF4 YY1 SLC30A9 ENSG00000259060 RNASE11 TRL-AAG2-3 TRP-AGG2-5 PARP2 SUPT16H METTL3 TTC5 ENSG00000258515 CHD8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCNB1IP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCNB1IP1 gene promoter:

Genomic Locations for CCNB1IP1 Gene

Genomic Locations for CCNB1IP1 Gene
chr14:20,311,368-20,333,312
(GRCh38/hg38)
Size:
21,945 bases
Orientation:
Minus strand
chr14:20,779,527-20,801,471
(GRCh37/hg19)

Genomic View for CCNB1IP1 Gene

Genes around CCNB1IP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCNB1IP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCNB1IP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCNB1IP1 Gene

Proteins for CCNB1IP1 Gene

  • Protein details for CCNB1IP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPC3-CIP1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase CCNB1IP1
    Protein Accession:
    Q9NPC3

    Protein attributes for CCNB1IP1 Gene

    Size:
    277 amino acids
    Molecular mass:
    31544 Da
    Quaternary structure:
    • Interacts with CCNB1, UBE2L3 and NF2.

neXtProt entry for CCNB1IP1 Gene

Post-translational modifications for CCNB1IP1 Gene

No data available for DME Specific Peptides for CCNB1IP1 Gene

Domains & Families for CCNB1IP1 Gene

Gene Families for CCNB1IP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CCNB1IP1 Gene

Suggested Antigen Peptide Sequences for CCNB1IP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCNB1IP1: view

No data available for UniProtKB/Swiss-Prot for CCNB1IP1 Gene

Function for CCNB1IP1 Gene

Molecular function for CCNB1IP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
Ubiquitin E3 ligase that acts as a limiting factor for crossing-over during meiosis: required during zygonema to limit the colocalization of RNF212 with MutS-gamma-associated recombination sites and thereby establish early differentiation of crossover and non-crossover sites. Later, it is directed by MutL-gamma to stably accumulate at designated crossover sites. Probably promotes the dissociation of RNF212 and MutS-gamma to allow the progression of recombination and the implementation of the final steps of crossing over (By similarity). Modulates cyclin-B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase. Modulates cyclin B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis.

Enzyme Numbers (IUBMB) for CCNB1IP1 Gene

Phenotypes From GWAS Catalog for CCNB1IP1 Gene

Gene Ontology (GO) - Molecular Function for CCNB1IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12612082
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IBA --
genes like me logo Genes that share ontologies with CCNB1IP1: view
genes like me logo Genes that share phenotypes with CCNB1IP1: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCNB1IP1 Gene

Localization for CCNB1IP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCNB1IP1 Gene

Nucleus. Chromosome. Note=Associates to the synaptonemal complex.

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 CCNB1IP1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CCNB1IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000795 colocalizes_with synaptonemal complex ISS --
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with CCNB1IP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCNB1IP1 Gene

Pathways & Interactions for CCNB1IP1 Gene

genes like me logo Genes that share pathways with CCNB1IP1: view

Pathways by source for CCNB1IP1 Gene

1 BioSystems pathway for CCNB1IP1 Gene

UniProtKB/Swiss-Prot Q9NPC3-CIP1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for CCNB1IP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001825 blastocyst formation IEA --
GO:0007131 reciprocal meiotic recombination IBA,ISS --
GO:0007286 spermatid development IEA --
GO:0016567 protein ubiquitination IBA,IEA --
GO:0051026 chiasma assembly ISS --
genes like me logo Genes that share ontologies with CCNB1IP1: view

No data available for SIGNOR curated interactions for CCNB1IP1 Gene

Drugs & Compounds for CCNB1IP1 Gene

(3) Drugs for CCNB1IP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for CCNB1IP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with CCNB1IP1: view

Transcripts for CCNB1IP1 Gene

Unigene Clusters for CCNB1IP1 Gene

Cyclin B1 interacting protein 1, E3 ubiquitin protein ligase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCNB1IP1 Gene

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

Relevant External Links for CCNB1IP1 Gene

GeneLoc Exon Structure for
CCNB1IP1
ECgene alternative splicing isoforms for
CCNB1IP1

Expression for CCNB1IP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCNB1IP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCNB1IP1 Gene

This gene is overexpressed in Testis (33.1) and Fetal ovary (33.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CCNB1IP1 Gene



Protein tissue co-expression partners for CCNB1IP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCNB1IP1 Gene:

CCNB1IP1

SOURCE GeneReport for Unigene cluster for CCNB1IP1 Gene:

Hs.107003

mRNA Expression by UniProt/SwissProt for CCNB1IP1 Gene:

Q9NPC3-CIP1_HUMAN
Tissue specificity: Highly expressed in heart. Detected at intermediate levels in liver and kidney, and at low levels in placenta, brain and lung.

Evidence on tissue expression from TISSUES for CCNB1IP1 Gene

  • Nervous system(4.6)
  • Lung(4.4)
  • Intestine(4.3)
  • Muscle(4.3)
genes like me logo Genes that share expression patterns with CCNB1IP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCNB1IP1 Gene

Orthologs for CCNB1IP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCNB1IP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCNB1IP1 33 34
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia CCNB1IP1 33 34
  • 92.78 (n)
dog
(Canis familiaris)
Mammalia CCNB1IP1 33 34
  • 91.7 (n)
oppossum
(Monodelphis domestica)
Mammalia CCNB1IP1 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccnb1ip1 33 16 34
  • 87.2 (n)
rat
(Rattus norvegicus)
Mammalia Ccnb1ip1 33
  • 86.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCNB1IP1 34
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCNB1IP1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489156 33
  • 72.25 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC562825 33
  • 58.26 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4611 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
Species where no ortholog for CCNB1IP1 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 CCNB1IP1 Gene

ENSEMBL:
Gene Tree for CCNB1IP1 (if available)
TreeFam:
Gene Tree for CCNB1IP1 (if available)

Paralogs for CCNB1IP1 Gene

Pseudogenes.org Pseudogenes for CCNB1IP1 Gene

genes like me logo Genes that share paralogs with CCNB1IP1: view

No data available for Paralogs for CCNB1IP1 Gene

Variants for CCNB1IP1 Gene

Sequence variations from dbSNP and Humsavar for CCNB1IP1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000017982 -- 20,313,782(-) T/C coding_sequence_variant, missense_variant
rs1000090583 -- 20,315,873(-) G/A intron_variant
rs1000395161 -- 20,334,882(-) G/C upstream_transcript_variant
rs1000662257 -- 20,314,041(-) C/T intron_variant
rs1000725310 -- 20,331,538(-) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CCNB1IP1 Gene

Variant ID Type Subtype PubMed ID
nsv1042025 CNV loss 25217958
esv3328436 CNV insertion 20981092
esv2554946 CNV insertion 19546169
esv23438 CNV gain+loss 19812545
esv1436404 CNV insertion 17803354

Variation tolerance for CCNB1IP1 Gene

Residual Variation Intolerance Score: 73.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCNB1IP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCNB1IP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCNB1IP1 Gene

Disorders for CCNB1IP1 Gene

Additional Disease Information for CCNB1IP1

No disorders were found for CCNB1IP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCNB1IP1 Gene

Publications for CCNB1IP1 Gene

  1. A novel RING finger protein, human enhancer of invasion 10, alters mitotic progression through regulation of cyclin B levels. (PMID: 12612082) Toby GG … Golemis EA (Molecular and cellular biology 2003) 2 3 4 22 58
  2. Evidence Implicating CCNB1IP1, a RING Domain-Containing Protein Required for Meiotic Crossing Over in Mice, as an E3 SUMO Ligase. (PMID: 21779533) Strong ER … Schimenti JC (Genes 2010) 2 3 58
  3. A functional association between merlin and HEI10, a cell cycle regulator. (PMID: 16532029) Grönholm M … Carpén O (Oncogene 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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

Products for CCNB1IP1 Gene

Sources for CCNB1IP1 Gene

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