Aliases for KIAA1107 Gene

Aliases for KIAA1107 Gene

  • KIAA1107 2
  • AP2-Interacting Clathrin-Endocytosis Protein 2 4
  • APache 2 4

External Ids for KIAA1107 Gene

Previous GeneCards Identifiers for KIAA1107 Gene

  • GC01M093020
  • GC01P091832
  • GC01P091972
  • GC01P092104
  • GC01P092344
  • GC01P092407
  • GC01P092632
  • GC01P090752
  • GC01P092167
  • GC01P092082

Summaries for KIAA1107 Gene

GeneCards Summary for KIAA1107 Gene

KIAA1107 (KIAA1107) is a Protein Coding gene.

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 Pubs


Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA1107

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

No location information available

Genomic View for KIAA1107 Gene


Cytogenetic band:

No data available for 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=Extended N-terminus.; 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

No data available for DME Specific Peptides for KIAA1107 Gene

Domains & Families for KIAA1107 Gene

Protein Domains for KIAA1107 Gene

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

No data available for Gene Families , 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, presynapse. 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
nucleus 3
cytosol 2
golgi apparatus 2
plasma membrane 1

No data available for Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components 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

None

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

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

No data available for mRNA/cDNA for KIAA1107 Gene

Expression for KIAA1107 Gene

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIAA1107

SOURCE GeneReport for Unigene cluster for KIAA1107 Gene:

Hs.21554

Evidence on tissue expression from TISSUES for KIAA1107 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with KIAA1107: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 chordates.

Orthologs for KIAA1107 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA1107 30
  • 99.34 (n)
Dog
(Canis familiaris)
Mammalia KIAA1107 30
  • 88.72 (n)
Rat
(Rattus norvegicus)
Mammalia LOC100364240 30
  • 73.18 (n)
Mouse
(Mus musculus)
Mammalia A830010M20Rik 30
  • 73.09 (n)
Chicken
(Gallus gallus)
Aves KIAA1107 30
  • 67.39 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa1107 30
  • 56.62 (n)
Str.17169 30
Species where no ortholog for KIAA1107 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)

No data available for Evolution for KIAA1107 Gene

Paralogs for KIAA1107 Gene

No data available for Paralogs for KIAA1107 Gene

Variants for KIAA1107 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA1107 Gene

SNP ID Clinical significance and condition Chr pos Variation AA Info Type
777925 Benign: not provided 92,178,321( ) G/A SYNONYMOUS_VARIANT
791802 Benign: not provided 92,180,975( ) A/T MISSENSE_VARIANT
rs11166332 - p.Gln472Arg
rs12084085 - p.Ser312Ile
rs17578364 - p.Phe953Val

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 and Additional dbSNP identifiers (rs#s) for KIAA1107 Gene

Disorders for KIAA1107 Gene

No disorders were found for KIAA1107 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links 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 4
  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 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4
  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) 4

Products for KIAA1107 Gene

Sources for KIAA1107 Gene