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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. Diseases associated with MIS18BP1 include Retinitis Pigmentosa 24. Among its related pathways are Chromosome Maintenance and Cell Cycle, Mitotic. Gene Ontology (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

Additional gene information for MIS18BP1 Gene

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

Genomics for MIS18BP1 Gene

GeneHancer (GH) Regulatory Elements for MIS18BP1 Gene

Promoters and enhancers for MIS18BP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I045249 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 572.8 +1.5 1510 6 PKNOX1 SMAD1 FOXA2 MLX ARID4B NEUROD1 SIN3A DMAP1 ZNF2 IRF4 MIS18BP1 PRPF39 FANCM KLHL28 C14orf28 GC14M044793 GC14M045228 GC14P045107 GC14P045108
GH14I045133 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.3 +117.9 117939 4.4 PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 FANCM GC14M045133 FKBP3 PRPF39 ENSG00000212615 LOC105370474 KLHL28 SNORD127 TOGARAM1 MIS18BP1
GH14I044895 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 7.9 +356.5 356520 3.6 PKNOX1 ATF1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ENSG00000258633 C14orf28 LINC02302 MIS18BP1 RRAGAP1 GC14P044608 GC14P044609 GC14P044610 GC14M044793 GC14P044549
GH14I045212 Enhancer 0.4 ENCODE 12.1 +41.1 41137 0.1 SP1 USF1 MIS18BP1 GC14M044793 GC14P045107 GC14P045108 GC14P044911
GH14I045198 Enhancer 0.2 ENCODE 9.7 +54.3 54320 1.6 ENSG00000212615 LOC105370474 PRPF39 MIS18BP1 GC14M044793 FANCM GC14P045107 GC14P045108 GC14P044911
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MIS18BP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MIS18BP1 Gene

Genomic Locations for MIS18BP1 Gene
50,351 bases
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:
    Recommended name:
    Mis18-binding protein 1
    Protein Accession:
    Secondary Accessions:
    • D3DSA7
    • Q86V14
    • Q96PY4
    • Q9NUR5
    • Q9Y4X9

    Protein attributes for MIS18BP1 Gene

    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.
    • 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


neXtProt entry for MIS18BP1 Gene

Post-translational modifications for MIS18BP1 Gene

  • Ubiquitination at isoforms=265, Lys113, isoforms=458, Lys850, isoforms=1066, and isoforms=1093

No data available for DME Specific Peptides for MIS18BP1 Gene

Domains & Families for MIS18BP1 Gene

Gene Families for MIS18BP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

No data available for UniProtKB/Swiss-Prot for MIS18BP1 Gene

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 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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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 MIS18BP1 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MIS18BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000778 condensed nuclear chromosome kinetochore IBA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
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:0007049 cell cycle 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

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: - - -

ExUns: 19

Relevant External Links for MIS18BP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MIS18BP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for MIS18BP1 Gene:


Evidence on tissue expression from TISSUES for MIS18BP1 Gene

  • Nervous system(4.1)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia MIS18BP1 33 34
  • 99.47 (n)
(Canis familiaris)
Mammalia MIS18BP1 33 34
  • 85.15 (n)
(Bos Taurus)
Mammalia MIS18BP1 33 34
  • 83.7 (n)
(Rattus norvegicus)
Mammalia Mis18bp1 33
  • 74.45 (n)
(Mus musculus)
Mammalia Mis18bp1 33 16 34
  • 72.96 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 47 (a)
-- 34
  • 34 (a)
(Ornithorhynchus anatinus)
Mammalia MIS18BP1 34
  • 33 (a)
(Gallus gallus)
Aves MIS18BP1 34
  • 30 (a)
(Anolis carolinensis)
Reptilia MIS18BP1 34
  • 30 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15885 33
(Danio rerio)
Actinopterygii MIS18BP1 34
  • 20 (a)
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

Gene Tree for MIS18BP1 (if available)
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 Variation AA Info Type
rs1000016330 -- 45,251,534(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000046073 -- 45,229,133(-) G/C intron_variant
rs1000048 -- 45,235,806(-) T/A intron_variant
rs1000104929 -- 45,222,544(-) T/G intron_variant
rs1000155957 -- 45,208,643(-) T/C genic_downstream_transcript_variant, 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)

Additional Variant Information for MIS18BP1 Gene

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

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

Disorders for MIS18BP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MIS18BP1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 24
  • rp24
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MIS18BP1

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

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

Publications for MIS18BP1 Gene

  1. Functional genomics identifies a Myb domain-containing protein family required for assembly of CENP-A chromatin. (PMID: 17339379) Maddox PS … Desai A (The Journal of cell biology 2007) 2 3 4 58
  2. Priming of centromere for CENP-A recruitment by human hMis18alpha, hMis18beta, and M18BP1. (PMID: 17199038) Fujita Y … Yanagida M (Developmental cell 2007) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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
  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 research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4 58

Products for MIS18BP1 Gene

Sources for MIS18BP1 Gene

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