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Aliases for KIAA0100 Gene

Aliases for KIAA0100 Gene

  • KIAA0100 2 3
  • Breast Cancer-Overexpressed Gene 1 Protein 3 4
  • Breast Cancer Overexpressed Gene 1 2 3
  • Cancer/Testis Antigen 101 2 3
  • Antigen MLAA-22 3 4
  • BCOX1 3 4
  • U937-Associated Antigen 3
  • Protein KIAA0100 3
  • CT101 3
  • FMP27 3
  • BCOX 3

External Ids for KIAA0100 Gene

Previous GeneCards Identifiers for KIAA0100 Gene

  • GC17M026786
  • GC17M028841
  • GC17M027088
  • GC17M027089
  • GC17M023965
  • GC17M026941
  • GC17M023150

Summaries for KIAA0100 Gene

Entrez Gene Summary for KIAA0100 Gene

  • This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3' UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain. [provided by RefSeq, Apr 2017]

GeneCards Summary for KIAA0100 Gene

KIAA0100 (KIAA0100) is a Protein Coding gene. Diseases associated with KIAA0100 include Monocytic Leukemia and In Situ Carcinoma.

UniProtKB/Swiss-Prot for KIAA0100 Gene

  • May be involved in membrane trafficking.

Additional gene information for KIAA0100 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0100 Gene

Genomics for KIAA0100 Gene

GeneHancer (GH) Regulatory Elements for KIAA0100 Gene

Promoters and enhancers for KIAA0100 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
GH17I028643 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.3 -267 4.4 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 KIAA0100 PIR48673 ENSG00000264577 NUFIP2 SUPT6H LOC101927018 PROCA1 PHF12 TMEM199 ENSG00000265205
GH17I028807 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 -165.0 -164985 6.8 HDGF PKNOX1 FOXA2 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 FAM222B TRAF4 LOC101927018 ERAL1 FLOT2 DHRS13 TLCD1 NEK8 SNORD42A SNORD4B
GH17I028576 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.2 +68.3 68252 1.6 HDGF FOXA2 PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ALDOC SUPT6H ENSG00000264577 PHF12 NUFIP2 TMEM199 SDF2 SPAG5-AS1 SGK494 RPL23A
GH17I028863 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -219.9 -219882 3.3 HDGF SMAD1 ARNT ARID4B IRF4 ZNF766 CBX5 JUNB REST ZNF592 DHRS13 RPL23A PROCA1 NUFIP2 SUPT6H PHF12 ENSG00000264577 ENSG00000265908 FLOT2 NEK8
GH17I028760 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.7 -115.8 -115817 2.2 ZNF792 PYGO2 ZIC2 THRB RAD21 ETS1 POLR2A SCRT2 RXRA NFIA TRAF4 TLCD1 NEK8 SNORD4B SNORD42A FAM222B ERAL1 SNORD4A RAB34 RPL23A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KIAA0100 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIAA0100 gene promoter:

Genomic Locations for KIAA0100 Gene

Genomic Locations for KIAA0100 Gene
31,015 bases
Minus strand

Genomic View for KIAA0100 Gene

Genes around KIAA0100 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0100 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0100 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0100 Gene

Proteins for KIAA0100 Gene

  • Protein details for KIAA0100 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein KIAA0100
    Protein Accession:
    Secondary Accessions:
    • A6NCX3
    • Q3SYN5
    • Q49A07
    • Q5H9T4
    • Q6WG74
    • Q6ZP51
    • Q96HH8

    Protein attributes for KIAA0100 Gene

    2235 amino acids
    Molecular mass:
    253700 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAQ93061.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAQ93061.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305}; Sequence=BAC85274.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA0100 Gene


neXtProt entry for KIAA0100 Gene

Post-translational modifications for KIAA0100 Gene

  • Glycosylation at posLast=9797 and isoforms=2730

No data available for DME Specific Peptides for KIAA0100 Gene

Domains & Families for KIAA0100 Gene

Gene Families for KIAA0100 Gene

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

Protein Domains for KIAA0100 Gene

Suggested Antigen Peptide Sequences for KIAA0100 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



K0100_HUMAN :
  • Belongs to the SABRE family.
  • Belongs to the SABRE family.
genes like me logo Genes that share domains with KIAA0100: view

Function for KIAA0100 Gene

Molecular function for KIAA0100 Gene

UniProtKB/Swiss-Prot Function:
May be involved in membrane trafficking.

Phenotypes From GWAS Catalog for KIAA0100 Gene

Phenotypes for KIAA0100 Gene

GenomeRNAi human phenotypes for KIAA0100:
genes like me logo Genes that share phenotypes with KIAA0100: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA0100 Gene

Localization for KIAA0100 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0100 Gene


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 KIAA0100 gene
Compartment Confidence
extracellular 4
nucleus 2
cytosol 2
plasma membrane 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIAA0100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with KIAA0100: view

Pathways & Interactions for KIAA0100 Gene

SuperPathways for KIAA0100 Gene

No Data Available

Interacting Proteins for KIAA0100 Gene

Selected Interacting proteins: Q14667-K0100_HUMAN for KIAA0100 Gene via IID

Gene Ontology (GO) - Biological Process for KIAA0100 Gene


No data available for Pathways by source and SIGNOR curated interactions for KIAA0100 Gene

Drugs & Compounds for KIAA0100 Gene

No Compound Related Data Available

Transcripts for KIAA0100 Gene

Unigene Clusters for KIAA0100 Gene

Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0100 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ·
SP1: - - -
SP2: - -
SP3: - -
SP6: -
SP8: -
SP10: -

ExUns: 20c ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40
SP5: -

Relevant External Links for KIAA0100 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KIAA0100 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIAA0100 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KIAA0100 Gene

This gene is overexpressed in Nasal epithelium (45.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIAA0100 Gene

NURSA nuclear receptor signaling pathways regulating expression of KIAA0100 Gene:


SOURCE GeneReport for Unigene cluster for KIAA0100 Gene:


mRNA Expression by UniProt/SwissProt for KIAA0100 Gene:

Tissue specificity: Expressed in pancreas, placenta and up-regulated in breast carcinoma epithelial cells, ductal in situ carcinoma (DCIS), invasive breast carcinoma (IBC) and metastatic breast carcinoma cells (MET).

Evidence on tissue expression from TISSUES for KIAA0100 Gene

  • Nervous system(4.7)
  • Kidney(4.4)
  • Bone marrow(4.3)
  • Intestine(2.9)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with KIAA0100: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA0100 Gene

Orthologs for KIAA0100 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0100 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC468197 33
  • 99.6 (n)
KIAA0100 34
  • 99 (a)
(Canis familiaris)
Mammalia KIAA0100 33 34
  • 91.46 (n)
(Bos Taurus)
Mammalia KIAA0100 33 34
  • 91.01 (n)
(Mus musculus)
Mammalia 2610507B11Rik 33 16 34
  • 89.56 (n)
(Rattus norvegicus)
Mammalia RGD1307929 33
  • 89.14 (n)
(Monodelphis domestica)
Mammalia KIAA0100 34
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia KIAA0100 34
  • 87 (a)
(Gallus gallus)
Aves KIAA0100 33 34
  • 75.54 (n)
(Anolis carolinensis)
Reptilia KIAA0100 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0100 33
  • 68.26 (n)
(Danio rerio)
Actinopterygii si:ch211-259g3.4 34
  • 65 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14967 33 34
  • 49.01 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005472 33
  • 48.42 (n)
(Caenorhabditis elegans)
Secernentea F31C3.3 33 34
  • 44.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10977 33
Species where no ortholog for KIAA0100 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for KIAA0100 Gene

Gene Tree for KIAA0100 (if available)
Gene Tree for KIAA0100 (if available)

Paralogs for KIAA0100 Gene

No data available for Paralogs for KIAA0100 Gene

Variants for KIAA0100 Gene

Sequence variations from dbSNP and Humsavar for KIAA0100 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs193920746 uncertain-significance, Malignant tumor of prostate 28,633,627(-) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1000270788 -- 28,644,380(-) C/T intron_variant
rs1000373472 -- 28,637,562(-) C/T intron_variant
rs1000550837 -- 28,646,520(-) C/G upstream_transcript_variant
rs1000604548 -- 28,646,727(-) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0100 Gene

Variant ID Type Subtype PubMed ID
nsv1064087 CNV gain 25217958

Variation tolerance for KIAA0100 Gene

Residual Variation Intolerance Score: 1.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.06; 75.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIAA0100 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 KIAA0100 Gene

Disorders for KIAA0100 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KIAA0100 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
monocytic leukemia
  • schilling's leukemia
in situ carcinoma
  • carcinoma in situ
leukemia, acute monocytic
  • acute monocytic leukemia
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIAA0100

genes like me logo Genes that share disorders with KIAA0100: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA0100 Gene

Publications for KIAA0100 Gene

  1. Identification of BCOX1, a novel gene overexpressed in breast cancer. (PMID: 16289875) Song J … Bai J (Biochimica et biophysica acta 2006) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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
  4. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T … Kotani H (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for KIAA0100 Gene

Sources for KIAA0100 Gene

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