Aliases for KIAA0513 Gene

Aliases for KIAA0513 Gene

  • KIAA0513 2 3 5
  • Uncharacterized Protein KIAA0513 3 4

External Ids for KIAA0513 Gene

Previous GeneCards Identifiers for KIAA0513 Gene

  • GC16P075607
  • GC16P086027
  • GC16P084800
  • GC16P084841
  • GC16P084876
  • GC16P083618
  • GC16P085061
  • GC16P070814

Summaries for KIAA0513 Gene

GeneCards Summary for KIAA0513 Gene

KIAA0513 (KIAA0513) is a Protein Coding gene.

Additional gene information for KIAA0513 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIAA0513 Gene

Genomics for KIAA0513 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIAA0513 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIAA0513 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA0513

Top Transcription factor binding sites by QIAGEN in the KIAA0513 gene promoter:
  • ER-alpha
  • FosB
  • Fra-1
  • HOXA5
  • JunB
  • JunD
  • Olf-1
  • Pax-2
  • Pax-2a
  • TGIF

Genomic Locations for KIAA0513 Gene

Genomic Locations for KIAA0513 Gene
chr16:85,027,709-85,094,230
(GRCh38/hg38)
Size:
66,522 bases
Orientation:
Plus strand
chr16:85,061,375-85,127,836
(GRCh37/hg19)
Size:
66,462 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

Post-translational modifications for KIAA0513 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KIAA0513 Gene

Domains & Families for KIAA0513 Gene

Gene Families for KIAA0513 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KIAA0513 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA0513 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57340 (B4DSS5_HUMAN)
genes like me logo Genes that share domains with KIAA0513: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KIAA0513 Gene

Function for KIAA0513 Gene

Phenotypes From GWAS Catalog 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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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 KIAA0513 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIAA0513 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with KIAA0513: view

Pathways & Interactions for KIAA0513 Gene

PathCards logo

SuperPathways for KIAA0513 Gene

No Data Available

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

mRNA/cDNA for KIAA0513 Gene

4 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA0513

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

Expression for KIAA0513 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for KIAA0513 Gene



Protein tissue co-expression partners for KIAA0513 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIAA0513

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.

Evidence on tissue expression from TISSUES for KIAA0513 Gene

  • Nervous system(4.9)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with KIAA0513: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA0513 Gene

Orthologs for KIAA0513 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0513 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA0513 30 31
  • 99.51 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KIAA0513 31
  • 88 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA0513 30 31
  • 87.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIAA0513 30 31
  • 86.83 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0513 31
  • 86 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1304884 30
  • 85.75 (n)
Mouse
(Mus musculus)
Mammalia 6430548M08Rik 30 17 31
  • 85.42 (n)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA0513 30 31
  • 78.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA0513 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa0513 30
  • 70.71 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:91860 30 31
  • 71.46 (n)
OneToOne
wufj54b01 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG17378 31
  • 15 (a)
OneToOne
Species where no ortholog for KIAA0513 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)
  • 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 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)

Evolution for KIAA0513 Gene

ENSEMBL:
Gene Tree for KIAA0513 (if available)
TreeFam:
Gene Tree for KIAA0513 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIAA0513: view image

Paralogs for KIAA0513 Gene

No data available for Paralogs for KIAA0513 Gene

Variants for KIAA0513 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA0513 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs4783121 - p.Arg100His

Additional dbSNP identifiers (rs#s) for KIAA0513 Gene

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

Variant ID Type Subtype PubMed ID
dgv3059n100 CNV gain 25217958
esv2671736 CNV deletion 23128226
esv275013 CNV gain+loss 21479260
esv3304988 CNV mobile element insertion 20981092
esv3308938 CNV mobile element insertion 20981092
esv3397342 CNV insertion 20981092
esv3437865 CNV insertion 20981092
esv3639451 CNV loss 21293372
esv3892930 CNV loss 25118596
nsv1065291 CNV loss 25217958
nsv1066260 CNV gain 25217958
nsv1912 CNV insertion 18451855
nsv483044 CNV gain 15286789
nsv520920 CNV loss 19592680
nsv573474 CNV loss 21841781

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)

Additional Variant Information for KIAA0513 Gene

Human Gene Mutation Database (HGMD)
KIAA0513
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA0513

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

Disorders for KIAA0513 Gene

Additional Disease Information for KIAA0513

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

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 TL … McInnes LA (Brain research 2006) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  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
  4. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4
  5. 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

Products for KIAA0513 Gene

  • Signalway Proteins for KIAA0513

Sources for KIAA0513 Gene