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Aliases for KIAA1107 Gene

Aliases for KIAA1107 Gene

  • KIAA1107 2 3
  • AP2-Interacting Clathrin-Endocytosis Protein 3
  • Uncharacterized Protein KIAA1107 3
  • BTB Domain Containing 8 5
  • APache 3
  • BTBD8 5

External Ids for KIAA1107 Gene

Previous GeneCards Identifiers for KIAA1107 Gene

  • GC01M093020
  • GC01P091832
  • GC01P091972
  • GC01P092104
  • GC01P092344
  • GC01P092407
  • GC01P092632
  • GC01P090752
  • GC01P092167

Summaries for KIAA1107 Gene

GeneCards Summary for KIAA1107 Gene

KIAA1107 (KIAA1107) is a Protein Coding gene.

Additional gene information for KIAA1107 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1107 Gene

Genomics for KIAA1107 Gene

GeneHancer (GH) Regulatory Elements for KIAA1107 Gene

Promoters and enhancers for KIAA1107 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
GH01J092079 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 657.4 +0.3 298 1.6 ATF1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 POLR2B KIAA1107 BTBD8 RPAP2 SNORA66 SNORD21 RPL5 GAPDHP46 GC01P092039
GH01J092029 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 12 -49.7 -49712 2 HDGF ARNT GLI4 ZNF2 YY1 GLIS2 ZNF213 KLF13 ZNF518A ZNF610 EPHX4 FAM69A KIAA1107 SNORA66 GC01P092039
GH01J092031 Enhancer 0.4 FANTOM5 12 -48.4 -48369 0.2 ZNF189 ZNF341 EPHX4 KIAA1107 BTBD8 GC01P092039
GH01J092095 Enhancer 0.5 Ensembl 5.8 +16.1 16145 1.3 POLR2A CEBPG NFE2 PRDM1 KIAA1107 GAPDHP46 BTBD8 GC01P092039
GH01J092168 Promoter/Enhancer 1.1 EPDnew ENCODE 0.2 +88.8 88753 0.8 MXI1 RFX1 HLF ATF2 POLR2A CREB1 ATF7 PRDM10 BTBD8 ENSG00000273487 PRKAR1AP1 KIAA1107 GC01P092039
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIAA1107 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIAA1107 gene promoter:
  • GR-beta
  • GR-alpha
  • GR
  • STAT3
  • POU2F1c
  • POU2F1b
  • POU2F1a
  • POU2F1
  • TBP
  • IRF-7A

Genomic Locations for KIAA1107 Gene

Genomic Locations for KIAA1107 Gene
chr1:92,080,305-92,184,725
(GRCh38/hg38)
Size:
104,421 bases
Orientation:
Plus strand
chr1:92,632,542-92,650,280
(GRCh37/hg19)
Size:
17,739 bases
Orientation:
Plus strand

Genomic View for KIAA1107 Gene

Genes around KIAA1107 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1107 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1107 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1107 Gene

Proteins for KIAA1107 Gene

  • Protein details for KIAA1107 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPP5-K1107_HUMAN
    Recommended name:
    Uncharacterized protein KIAA1107
    Protein Accession:
    Q9UPP5
    Secondary Accessions:
    • O14767
    • Q8N3X7

    Protein attributes for KIAA1107 Gene

    Size:
    1409 amino acids
    Molecular mass:
    155681 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC28132.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1107 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA1107 Gene

Post-translational modifications for KIAA1107 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIAA1107 Gene

No data available for DME Specific Peptides for KIAA1107 Gene

Domains & Families for KIAA1107 Gene

Gene Families for KIAA1107 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KIAA1107 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA1107: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for KIAA1107 Gene

Function for KIAA1107 Gene

Phenotypes From GWAS Catalog for KIAA1107 Gene

Gene Ontology (GO) - Molecular Function for KIAA1107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA binding transcription factor activity IBA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with KIAA1107: view

Phenotypes for KIAA1107 Gene

genes like me logo Genes that share phenotypes with KIAA1107: view

Animal Model Products

CRISPR Products

miRNA for KIAA1107 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA1107

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA1107 Gene

Localization for KIAA1107 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 KIAA1107 gene
Compartment Confidence
nucleus 3
plasma membrane 2
cytosol 2
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for KIAA1107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with KIAA1107: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KIAA1107 Gene

Pathways & Interactions for KIAA1107 Gene

SuperPathways for KIAA1107 Gene

No Data Available

Interacting Proteins for KIAA1107 Gene

Gene Ontology (GO) - Biological Process for KIAA1107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0045893 positive regulation of transcription, DNA-templated IBA --
genes like me logo Genes that share ontologies with KIAA1107: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA1107 Gene

Drugs & Compounds for KIAA1107 Gene

No Compound Related Data Available

Transcripts for KIAA1107 Gene

mRNA/cDNA for KIAA1107 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(41) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KIAA1107 Gene

KIAA1107:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA1107

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1107 Gene

No ASD Table

Relevant External Links for KIAA1107 Gene

GeneLoc Exon Structure for
KIAA1107
ECgene alternative splicing isoforms for
KIAA1107

Expression for KIAA1107 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIAA1107 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIAA1107 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.5), Brain - Cortex (x5.3), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for KIAA1107 Gene

This gene is overexpressed in Monocytes (25.0), Plasma (23.3), and Frontal cortex (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIAA1107 Gene



Protein tissue co-expression partners for KIAA1107 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIAA1107 Gene:

KIAA1107

SOURCE GeneReport for Unigene cluster for KIAA1107 Gene:

Hs.21554

Evidence on tissue expression from TISSUES for KIAA1107 Gene

  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with KIAA1107: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA1107 Gene

Orthologs for KIAA1107 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA1107 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTBD8 34
  • 100 (a)
OneToOne
KIAA1107 33
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia KIAA1107 33
  • 88.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD8 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100364240 33
  • 73.18 (n)
mouse
(Mus musculus)
Mammalia A830010M20Rik 16 33
  • 73.09 (n)
Btbd8 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1107 33
  • 67.39 (n)
lizard
(Anolis carolinensis)
Reptilia BTBD8 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1107 33
  • 56.62 (n)
Str.17169 33
fruit fly
(Drosophila melanogaster)
Insecta CG13917 34
  • 3 (a)
OneToOne
Species where no ortholog for KIAA1107 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)
  • cow (Bos Taurus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • zebrafish (Danio rerio)

Evolution for KIAA1107 Gene

ENSEMBL:
Gene Tree for KIAA1107 (if available)
TreeFam:
Gene Tree for KIAA1107 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIAA1107: view image

Paralogs for KIAA1107 Gene

No data available for Paralogs for KIAA1107 Gene

Variants for KIAA1107 Gene

Sequence variations from dbSNP and Humsavar for KIAA1107 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000236366 -- 92,169,589(+) A/C intron_variant
rs1000389803 -- 92,176,070(+) A/G intron_variant
rs1000539446 -- 92,169,855(+) A/G intron_variant
rs1000621722 -- 92,183,811(+) T/A intron_variant
rs1000817977 -- 92,169,347(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA1107 Gene

Variant ID Type Subtype PubMed ID
esv2714684 CNV deletion 23290073
nsv1113149 CNV deletion 24896259
nsv546821 CNV gain 21841781

Variation tolerance for KIAA1107 Gene

Gene Damage Index Score: 5.21; 69.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIAA1107 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA1107

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1107 Gene

Disorders for KIAA1107 Gene

Additional Disease Information for KIAA1107

No disorders were found for KIAA1107 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIAA1107 Gene

Publications for KIAA1107 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal Development. (PMID: 29262337) Piccini A … Giovedì S (Cell reports 2017) 3 58
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58
  4. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A … Wanker EE (Science signaling 2011) 3 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58

Products for KIAA1107 Gene

Sources for KIAA1107 Gene

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