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Aliases for MIS18BP1 Gene

Aliases for MIS18BP1 Gene

  • MIS18 Binding Protein 1 2 3 5
  • Kinetochore-Associated Protein KNL-2 Homolog 3 4
  • C14orf106 3 4
  • HsKNL-2 3 4
  • M18BP1 3 4
  • KNL2 3 4
  • P243 3 4
  • Putative Protein P243 Which Interacts With Transcription Factor Sp1 3
  • Kinetochore Null 2 Homolog (C. Elegans) 2
  • Chromosome 14 Open Reading Frame 106 2
  • Kinetochore Null 2 Homolog 3
  • Mis18-Binding Protein 1 3
  • HSA242977 3
  • KIAA1903 4

External Ids for MIS18BP1 Gene

Previous HGNC Symbols for MIS18BP1 Gene

  • C14orf106

Previous GeneCards Identifiers for MIS18BP1 Gene

  • GC14M045673

Summaries for MIS18BP1 Gene

GeneCards Summary for MIS18BP1 Gene

MIS18BP1 (MIS18 Binding Protein 1) is a Protein Coding gene. Among its related pathways are Chromosome Maintenance and Cell Cycle, Mitotic. GO annotations related to this gene include chromatin binding.

UniProtKB/Swiss-Prot for MIS18BP1 Gene

  • Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis.

Gene Wiki entry for MIS18BP1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIS18BP1 Gene

Genomics for MIS18BP1 Gene

Regulatory Elements for MIS18BP1 Gene

Enhancers for MIS18BP1 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around MIS18BP1 on UCSC Golden Path with GeneCards custom track

Promoters for MIS18BP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MIS18BP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MIS18BP1 Gene

Chromosome:
14
Start:
45,203,190 bp from pter
End:
45,253,540 bp from pter
Size:
50,351 bases
Orientation:
Minus strand

Genomic View for MIS18BP1 Gene

Genes around MIS18BP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIS18BP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIS18BP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIS18BP1 Gene

Proteins for MIS18BP1 Gene

  • Protein details for MIS18BP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P0N0-M18BP_HUMAN
    Recommended name:
    Mis18-binding protein 1
    Protein Accession:
    Q6P0N0
    Secondary Accessions:
    • D3DSA7
    • Q86V14
    • Q96PY4
    • Q9NUR5
    • Q9Y4X9

    Protein attributes for MIS18BP1 Gene

    Size:
    1132 amino acids
    Molecular mass:
    129085 Da
    Quaternary structure:
    • Interacts (via N-terminus) with FLNA (via N-terminus) (By similarity). Interacts with SP1 (Probable). Interacts with MIS18A. Identified in a complex containing MIS18A, OIP5/MIS18B, MIS18BP1, RBBP7 and RBBP4.
    SequenceCaution:
    • Sequence=AK002048; Type=Frameshift; Positions=157; Evidence={ECO:0000305}; Sequence=BAB67796.1; Type=Frameshift; Positions=154; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MIS18BP1 Gene

    Alternative splice isoforms for MIS18BP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIS18BP1 Gene

Post-translational modifications for MIS18BP1 Gene

  • Ubiquitination at Lys 65, Lys 113, Lys 458, Lys 850, Lys 1066, and Lys 1093
  • Modification sites at PhosphoSitePlus

Other Protein References for MIS18BP1 Gene

No data available for DME Specific Peptides for MIS18BP1 Gene

Domains & Families for MIS18BP1 Gene

Gene Families for MIS18BP1 Gene

Protein Domains for MIS18BP1 Gene

Suggested Antigen Peptide Sequences for MIS18BP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P0N0

UniProtKB/Swiss-Prot:

M18BP_HUMAN :
  • Contains 1 SANT domain.
Domain:
  • Contains 1 SANT domain.
genes like me logo Genes that share domains with MIS18BP1: view

Function for MIS18BP1 Gene

Molecular function for MIS18BP1 Gene

UniProtKB/Swiss-Prot Function:
Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis.

Gene Ontology (GO) - Molecular Function for MIS18BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IEA,IPI 17199038
genes like me logo Genes that share ontologies with MIS18BP1: view
genes like me logo Genes that share phenotypes with MIS18BP1: view

Animal Models for MIS18BP1 Gene

MGI Knock Outs for MIS18BP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MIS18BP1 Gene

Localization for MIS18BP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIS18BP1 Gene

Nucleus. Chromosome. Chromosome, centromere. Note=Associated with centromeres in interphase cells, from late anaphase to the G1 phase. Not detected on centromeres during earlier phases of mitosis. Associated with chromatin.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MIS18BP1 Gene COMPARTMENTS Subcellular localization image for MIS18BP1 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MIS18BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000778 condensed nuclear chromosome kinetochore IBA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with MIS18BP1: view

Pathways & Interactions for MIS18BP1 Gene

genes like me logo Genes that share pathways with MIS18BP1: view

Pathways by source for MIS18BP1 Gene

Gene Ontology (GO) - Biological Process for MIS18BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007067 mitotic nuclear division IEA --
GO:0034080 CENP-A containing nucleosome assembly TAS --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with MIS18BP1: view

No data available for SIGNOR curated interactions for MIS18BP1 Gene

Drugs & Compounds for MIS18BP1 Gene

No Compound Related Data Available

Transcripts for MIS18BP1 Gene

Unigene Clusters for MIS18BP1 Gene

MIS18 binding protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIS18BP1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^
SP1: - -
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for MIS18BP1 Gene

GeneLoc Exon Structure for
MIS18BP1
ECgene alternative splicing isoforms for
MIS18BP1

Expression for MIS18BP1 Gene

mRNA expression in normal human tissues for MIS18BP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MIS18BP1 Gene

This gene is overexpressed in Esophagus (32.6), Liver (17.6), and Pancreas (15.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MIS18BP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MIS18BP1 Gene:

MIS18BP1

SOURCE GeneReport for Unigene cluster for MIS18BP1 Gene:

Hs.732769
genes like me logo Genes that share expression patterns with MIS18BP1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MIS18BP1 Gene

Orthologs for MIS18BP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MIS18BP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MIS18BP1 34
  • 83.7 (n)
  • 73.72 (a)
MIS18BP1 35
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MIS18BP1 34
  • 85.15 (n)
  • 73.43 (a)
MIS18BP1 35
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mis18bp1 34
  • 72.96 (n)
  • 57.03 (a)
Mis18bp1 16
Mis18bp1 35
  • 56 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MIS18BP1 34
  • 99.47 (n)
  • 98.76 (a)
MIS18BP1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mis18bp1 34
  • 74.45 (n)
  • 59.06 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 34 (a)
OneToMany
-- 35
  • 47 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MIS18BP1 35
  • 33 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIS18BP1 35
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIS18BP1 35
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15885 34
zebrafish
(Danio rerio)
Actinopterygii MIS18BP1 35
  • 20 (a)
OneToOne
Species where no ortholog for MIS18BP1 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIS18BP1 Gene

ENSEMBL:
Gene Tree for MIS18BP1 (if available)
TreeFam:
Gene Tree for MIS18BP1 (if available)

Paralogs for MIS18BP1 Gene

No data available for Paralogs for MIS18BP1 Gene

Variants for MIS18BP1 Gene

Sequence variations from dbSNP and Humsavar for MIS18BP1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1269008 - 45,246,797(-) ACCTA(C/T)GTGAA nc-transcript-variant, reference, missense
rs34168608 - 45,242,137(+) AACAC(C/G)AAGAC intron-variant, nc-transcript-variant, reference, missense
rs34101857 - 45,226,834(-) AAGGA(A/C)TTAAT nc-transcript-variant, reference, missense
rs34402741 - 45,224,036(-) GGAAA(C/G)AGTTT intron-variant, nc-transcript-variant, reference, missense
rs2415884 -- 45,235,534(+) gcagt(A/G/T)agccg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MIS18BP1 Gene

Variant ID Type Subtype PubMed ID
esv2748677 CNV deletion 23290073
esv2748678 CNV deletion 23290073
esv2759987 CNV loss 17122850
esv3634344 CNV loss 21293372
nsv1045297 CNV loss 25217958
nsv1113645 CNV deletion 24896259
nsv564726 CNV loss 21841781
nsv832785 CNV loss 17160897
nsv952834 CNV duplication 24416366

Variation tolerance for MIS18BP1 Gene

Residual Variation Intolerance Score: 37.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.14; 80.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MIS18BP1 Gene

Human Gene Mutation Database (HGMD)
MIS18BP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIS18BP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIS18BP1 Gene

Disorders for MIS18BP1 Gene

Relevant External Links for MIS18BP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIS18BP1

No disorders were found for MIS18BP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MIS18BP1 Gene

Publications for MIS18BP1 Gene

  1. Priming of centromere for CENP-A recruitment by human hMis18alpha, hMis18beta, and M18BP1. (PMID: 17199038) Fujita Y. … Yanagida M. (Dev. Cell 2007) 2 3 4 65
  2. Functional genomics identifies a Myb domain-containing protein family required for assembly of CENP-A chromatin. (PMID: 17339379) Maddox P.S. … Desai A. (J. Cell Biol. 2007) 2 3 4 65
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T. … Ohara O. (DNA Res. 2001) 3 4 65

Products for MIS18BP1 Gene

Sources for MIS18BP1 Gene

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