Aliases for KIAA1107 Gene

Aliases for KIAA1107 Gene

  • KIAA1107 2 3
  • AP2-Interacting Clathrin-Endocytosis Protein 2 3 4
  • APache 3 4
  • BTB Domain Containing 8 5
  • 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. An important paralog of this gene is PRR36.

UniProtKB/Swiss-Prot Summary for KIAA1107 Gene

  • Involved in clathrin-mediated endocytosis at the synapse. Plays a role in neuronal development and in synaptic vesicle recycling in mature neurons, a process required for normal synaptic transmission.

Additional gene information for KIAA1107 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 757.3 +0.4 396 2.2 ZBTB40 ZBTB6 CREB1 ELF1 L3MBTL2 MNT ZFX SP1 SP7 ZSCAN21 KIAA1107 BTBD8 RPAP2 GAPDHP46
GH01J092029 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 21.8 -49.8 -49812 2.2 ZNF785 CTCF HDGF SP7 ZSCAN21 ZNF680 KLF14 GLIS2 ZIC2 ZBTB8A EPHX4 lnc-SETSIP-2 KIAA1107 GLMN DIPK1A SNORA66 HFM1 piR-35674-028
GH01J092831 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 18.2 +753.3 753252 4.5 ZNF785 SIN3A SP1 ZBTB40 CTCF SREBF1 MLX SMARCE1 RBPJ POLR2A RPL5 MTF2 SNORA66 SNORD21 CCDC18-AS1 GLMN DR1 RPAP2 KIAA1107 ENSG00000225505
GH01J091882 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 -195.1 -195105 5.2 ZNF785 CTCF ZBTB6 RBPJ POLR2A MIXL1 ZNF362 NFYC L3MBTL2 ZFP41 TGFBR3 lnc-SETSIP-3 GLMN HFM1 SNORA66 SNORD21 RPL5 RPAP2 ZNF644 KIAA1107
GH01J092482 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 +404.3 404296 6 CTCF RBPJ MIXL1 ZNF362 MYC ETV6 L3MBTL2 MAX ZNF121 HDGF GFI1 lnc-EVI5-1 DIPK1A CCDC18-AS1 EVI5 GLMN SNORA66 RPL5 SNORD21 MTF2
- 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
  • GR-alpha
  • GR-beta
  • IRF-7A
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • STAT3
  • TBP

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:
    AP2-interacting clathrin-endocytosis protein
    Protein Accession:
    Q9UPP5
    Secondary Accessions:
    • A0A1B0GWG1
    • O14767
    • Q8N3X7

    Protein attributes for KIAA1107 Gene

    Size:
    1279 amino acids
    Molecular mass:
    140918 Da
    Quaternary structure:
    • Interacts (via N-terminus) with adaptor protein complex AP-2 subunits alpha (AP2A1) and beta (AP2B1).
    SequenceCaution:
    • Sequence=AAC28132.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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:
genes like me logo Genes that share domains with KIAA1107: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KIAA1107 Gene

Function for KIAA1107 Gene

Molecular function for KIAA1107 Gene

UniProtKB/Swiss-Prot Function:
Involved in clathrin-mediated endocytosis at the synapse. Plays a role in neuronal development and in synaptic vesicle recycling in mature neurons, a process required for normal synaptic transmission.

Phenotypes From GWAS Catalog for KIAA1107 Gene

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

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

Localization for KIAA1107 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA1107 Gene

Cell projection, axon. Cell junction, synapse, presynaptic cell membrane. Cytoplasmic vesicle, clathrin-coated vesicle. Note=In primary cultures, mainly present at axonal and presynaptic terminal levels of mature neurons. In immature neurons, localizes to the cell body and growing processes, including axons. {ECO:0000250 UniProtKB:Q80TK0}.

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
plasma membrane 4
nucleus 3
cytosol 2
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for KIAA1107 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane IEA --
GO:0008021 synaptic vesicle ISS,IEA --
genes like me logo Genes that share ontologies with KIAA1107: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KIAA1107 Gene

Pathways & Interactions for KIAA1107 Gene

PathCards logo

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:0006897 endocytosis IEA --
GO:0031175 neuron projection development ISS --
GO:0036466 synaptic vesicle recycling via endosome ISS --
GO:0150007 clathrin-dependent synaptic vesicle endocytosis ISS,IEA --
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

CRISPR Products

Inhibitory RNA Products

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

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 33
  • 100 (a)
OneToOne
KIAA1107 32
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia KIAA1107 32
  • 88.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD8 33
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100364240 32
  • 73.18 (n)
mouse
(Mus musculus)
Mammalia A830010M20Rik 17 32
  • 73.09 (n)
Btbd8 33
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1107 32
  • 67.39 (n)
lizard
(Anolis carolinensis)
Reptilia BTBD8 33
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1107 32
  • 56.62 (n)
Str.17169 32
fruit fly
(Drosophila melanogaster)
Insecta CG13917 33
  • 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

Paralogs for KIAA1107 Gene

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

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. APache Is an AP2-Interacting Protein Involved in Synaptic Vesicle Trafficking and Neuronal Development. (PMID: 29262337) Piccini A … Giovedì S (Cell reports 2017) 2 3 4 56
  2. 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 56
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 56
  5. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A … Wanker EE (Science signaling 2011) 3 56

Products for KIAA1107 Gene

Sources for KIAA1107 Gene