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Aliases for KIAA0040 Gene

Aliases for KIAA0040 Gene

  • KIAA0040 2 3

External Ids for KIAA0040 Gene

Previous GeneCards Identifiers for KIAA0040 Gene

  • GC01M172650
  • GC01M170554
  • GC01M171706
  • GC01M172365
  • GC01M171857
  • GC01M173392
  • GC01M146352

Summaries for KIAA0040 Gene

GeneCards Summary for KIAA0040 Gene

KIAA0040 (KIAA0040) 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 KIAA0040 Gene

Genomics for KIAA0040 Gene

Regulatory Elements for KIAA0040 Gene

Enhancers for KIAA0040 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KIAA0040 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA0040 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIAA0040 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIAA0040 Gene

Chromosome:
1
Start:
175,156,987 bp from pter
End:
175,193,093 bp from pter
Size:
36,107 bases
Orientation:
Minus strand

Genomic View for KIAA0040 Gene

Genes around KIAA0040 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0040 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0040 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0040 Gene

Proteins for KIAA0040 Gene

  • Protein details for KIAA0040 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15053-K0040_HUMAN
    Recommended name:
    Uncharacterized protein KIAA0040
    Protein Accession:
    Q15053
    Secondary Accessions:
    • A8K9H6
    • Q2NKQ0

    Protein attributes for KIAA0040 Gene

    Size:
    153 amino acids
    Molecular mass:
    17035 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA05022.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KIAA0040 Gene

Proteomics data for KIAA0040 Gene at MOPED

Post-translational modifications for KIAA0040 Gene

No Post-translational modifications

No data available for DME Specific Peptides for KIAA0040 Gene

Domains & Families for KIAA0040 Gene

Protein Domains for KIAA0040 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA0040: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for KIAA0040 Gene

Function for KIAA0040 Gene

Phenotypes for KIAA0040 Gene

GenomeRNAi human phenotypes for KIAA0040:
genes like me logo Genes that share phenotypes with KIAA0040: view

Animal Model Products

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 KIAA0040 Gene

Localization for KIAA0040 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for KIAA0040 Gene

Pathways & Interactions for KIAA0040 Gene

SuperPathways for KIAA0040 Gene

No Data Available

Interacting Proteins for KIAA0040 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000462172%0d%0a9606.ENSP00000375478%0d%0a9606.ENSP00000230321%0d%0a
Selected Interacting proteins: ENSP00000462172 Q15053-K0040_HUMAN for KIAA0040 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for KIAA0040 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA0040 Gene

Drugs & Compounds for KIAA0040 Gene

No Compound Related Data Available

Transcripts for KIAA0040 Gene

Unigene Clusters for KIAA0040 Gene

KIAA0040:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0040 Gene

No ASD Table

Relevant External Links for KIAA0040 Gene

GeneLoc Exon Structure for
KIAA0040
ECgene alternative splicing isoforms for
KIAA0040

Expression for KIAA0040 Gene

mRNA expression in normal human tissues for KIAA0040 Gene

mRNA differential expression in normal tissues according to GTEx for KIAA0040 Gene

This gene is overexpressed in Whole Blood (x8.4).

SOURCE GeneReport for Unigene cluster for KIAA0040 Gene Hs.518138

genes like me logo Genes that share expression patterns with KIAA0040: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for KIAA0040 Gene

Orthologs for KIAA0040 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIAA0040 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC100335299 35
  • 81.14 (n)
  • 79.8 (a)
mouse
(Mus musculus)
Mammalia 4930523C07Rik 35
  • 82.49 (n)
  • 71.72 (a)
4930523C07Rik 16
4930523C07Rik 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100302372 35
  • 82.83 (n)
  • 74.75 (a)
dog
(Canis familiaris)
Mammalia KIAA0040 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0040 35
  • 71.77 (n)
  • 61.22 (a)
KIAA0040 36
  • 57 (a)
OneToOne
Species with no ortholog for KIAA0040:
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KIAA0040 Gene

ENSEMBL:
Gene Tree for KIAA0040 (if available)
TreeFam:
Gene Tree for KIAA0040 (if available)

Paralogs for KIAA0040 Gene

No data available for Paralogs for KIAA0040 Gene

Variants for KIAA0040 Gene

Sequence variations from dbSNP and Humsavar for KIAA0040 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2269650 - 175,160,555(-) GAGGG(A/C)AGTCC reference, missense, utr-variant-3-prime
rs2685 -- 175,158,635(-) AGAAT(A/C/G/T)ACTTG utr-variant-3-prime
rs6929 -- 175,157,585(-) AATTC(A/G)AACAC utr-variant-3-prime
rs729675 -- 175,167,810(-) CAGGG(A/G)CACCT intron-variant
rs760486 -- 175,168,240(-) CAGAC(A/C)ATTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0040 Gene

Variant ID Type Subtype PubMed ID
nsv522101 CNV Loss 19592680
nsv528874 CNV Loss 19592680
esv28699 CNV Loss 19812545

Variation tolerance for KIAA0040 Gene

Gene Damage Index Score: 2.10; 38.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA0040 Gene

HapMap Linkage Disequilibrium report
KIAA0040

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0040 Gene

Disorders for KIAA0040 Gene

Relevant External Links for KIAA0040

Genetic Association Database (GAD)
KIAA0040
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA0040

No disorders were found for KIAA0040 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIAA0040 Gene

Publications for KIAA0040 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. Family-based association analysis of alcohol dependence implicates KIAA0040 on Chromosome 1q in multiplex alcohol dependence families. (PMID: 24829844) Hill S.Y. … Stiffler S. (Open J Genet 2013) 3
  4. Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q. (PMID: 21956439) Zuo L. … Luo X. (Neuropsychopharmacology 2012) 3
  5. A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence. (PMID: 21703634) Wang K.S. … Zeng M. (J Psychiatr Res 2011) 3

Products for KIAA0040 Gene

Sources for KIAA0040 Gene

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