Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KIAA0513 Gene

Aliases for KIAA0513 Gene

  • KIAA0513 2 3

External Ids for KIAA0513 Gene

Previous GeneCards Identifiers for KIAA0513 Gene

  • GC16P075607
  • GC16P086027
  • GC16P084800
  • GC16P084841
  • GC16P084876
  • GC16P083618
  • GC16P070814

Summaries for KIAA0513 Gene

GeneCards Summary for KIAA0513 Gene

KIAA0513 (KIAA0513) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0513 Gene

Genomics for KIAA0513 Gene

Regulatory Elements for KIAA0513 Gene

Promoters for KIAA0513 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIAA0513 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIAA0513 Gene

Chromosome:
16
Start:
85,027,751 bp from pter
End:
85,094,230 bp from pter
Size:
66,480 bases
Orientation:
Plus strand

Genomic View for KIAA0513 Gene

Genes around KIAA0513 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0513 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0513 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0513 Gene

Proteins for KIAA0513 Gene

  • Protein details for KIAA0513 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60268-K0513_HUMAN
    Recommended name:
    Uncharacterized protein KIAA0513
    Protein Accession:
    O60268
    Secondary Accessions:
    • B4DSS5
    • D3DUM2
    • Q8N6G0

    Protein attributes for KIAA0513 Gene

    Size:
    411 amino acids
    Molecular mass:
    46639 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA25439.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA0513 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA0513 Gene

Proteomics data for KIAA0513 Gene at MOPED

Post-translational modifications for KIAA0513 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for KIAA0513 Gene

Domains & Families for KIAA0513 Gene

Protein Domains for KIAA0513 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for KIAA0513 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA0513: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KIAA0513 Gene

Function for KIAA0513 Gene

Phenotypes for KIAA0513 Gene

genes like me logo Genes that share phenotypes with KIAA0513: view

Animal Model Products

CRISPR Products

miRNA for KIAA0513 Gene

miRTarBase miRNAs that target KIAA0513

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA0513 Gene

Localization for KIAA0513 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0513 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA0513 Gene COMPARTMENTS Subcellular localization image for KIAA0513 gene
Compartment Confidence
nucleus 4
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for KIAA0513 Gene

Pathways & Interactions for KIAA0513 Gene

SuperPathways for KIAA0513 Gene

No Data Available

Interacting Proteins for KIAA0513 Gene

Gene Ontology (GO) - Biological Process for KIAA0513 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA0513 Gene

Drugs & Compounds for KIAA0513 Gene

No Compound Related Data Available

Transcripts for KIAA0513 Gene

Unigene Clusters for KIAA0513 Gene

KIAA0513:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0513 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: -
SP2:
SP3: -
SP4: -
SP5:

Relevant External Links for KIAA0513 Gene

GeneLoc Exon Structure for
KIAA0513
ECgene alternative splicing isoforms for
KIAA0513

Expression for KIAA0513 Gene

mRNA expression in normal human tissues for KIAA0513 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIAA0513 Gene

This gene is overexpressed in Brain - Cerebellum (x5.7), Brain - Cerebellar Hemisphere (x5.3), Brain - Cortex (x4.9), and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for KIAA0513 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.2), Brain (14.6), Frontal cortex (13.8), and Platelet (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIAA0513 Gene



SOURCE GeneReport for Unigene cluster for KIAA0513 Gene Hs.301658

mRNA Expression by UniProt/SwissProt for KIAA0513 Gene

O60268-K0513_HUMAN
Tissue specificity: Widely expressed, highest levels in cerebellum, brain cortex, hippocampus, pons, putamen and amygdala. Highly expressed in neurons, but also present in glial cells. Slightly higher expression in the dorsolateral prefrontal cortex of schizophrenic patients compared to control individuals.
genes like me logo Genes that share expression patterns with KIAA0513: view

Protein tissue co-expression partners for KIAA0513 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for KIAA0513 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0513 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIAA0513 35
  • 86.83 (n)
  • 89.27 (a)
KIAA0513 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0513 35
  • 87.89 (n)
  • 90 (a)
KIAA0513 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 6430548M08Rik 35
  • 85.42 (n)
  • 89.68 (a)
6430548M08Rik 16
6430548M08Rik 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA0513 35
  • 99.51 (n)
  • 99.51 (a)
KIAA0513 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1304884 35
  • 85.75 (n)
  • 89.43 (a)
oppossum
(Monodelphis domestica)
Mammalia KIAA0513 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0513 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0513 35
  • 78.93 (n)
  • 79.01 (a)
KIAA0513 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0513 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0513 35
  • 70.71 (n)
  • 74.26 (a)
zebrafish
(Danio rerio)
Actinopterygii wufj54b01 35
zgc:91860 35
  • 71.46 (n)
  • 74.37 (a)
zgc:91860 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17378 36
  • 15 (a)
OneToOne
Species with no ortholog for KIAA0513:
  • 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)
  • 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 KIAA0513 Gene

ENSEMBL:
Gene Tree for KIAA0513 (if available)
TreeFam:
Gene Tree for KIAA0513 (if available)

Paralogs for KIAA0513 Gene

No data available for Paralogs for KIAA0513 Gene

Variants for KIAA0513 Gene

Sequence variations from dbSNP and Humsavar for KIAA0513 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs4783121 - 85,067,370(+) CATGC(A/G)TGGCT reference, missense
rs9541 -- 85,093,865(+) GAACA(C/T)GGTTG utr-variant-3-prime
rs715707 -- 85,093,866(-) TCAAC(C/T)GTGTT utr-variant-3-prime
rs904815 -- 85,029,869(-) ACCCA(C/T)CATGA intron-variant
rs867347 -- 85,034,389(-) TGTCG(C/T)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0513 Gene

Variant ID Type Subtype PubMed ID
nsv907087 CNV Loss 21882294
nsv907088 CNV Gain 21882294
esv2671736 CNV Deletion 23128226
esv275013 CNV Gain+Loss 21479260
nsv520920 CNV Loss 19592680
nsv1912 CNV Insertion 18451855
nsv907089 CNV Loss 21882294
nsv907090 CNV Loss 21882294
esv269266 CNV Insertion 20981092
esv273211 CNV Insertion 20981092
nsv907091 CNV Gain 21882294

Variation tolerance for KIAA0513 Gene

Residual Variation Intolerance Score: 29.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.86; 91.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA0513 Gene

HapMap Linkage Disequilibrium report
KIAA0513
Human Gene Mutation Database (HGMD)
KIAA0513

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0513 Gene

Disorders for KIAA0513 Gene

Relevant External Links for KIAA0513

Genetic Association Database (GAD)
KIAA0513
Human Genome Epidemiology (HuGE) Navigator
KIAA0513
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA0513

No disorders were found for KIAA0513 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIAA0513 Gene

Publications for KIAA0513 Gene

  1. Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton. (PMID: 17010949) Lauriat T.L. … McInnes L.A. (Brain Res. 2006) 2 3 4 67
  2. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. (PMID: 22959728) . … Zheng J.G. (Neurobiol. Aging 2013) 3
  3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3

Products for KIAA0513 Gene

Sources for KIAA0513 Gene

Back to Top

Content