Aliases for KIAA0040 Gene

Aliases for KIAA0040 Gene

  • KIAA0040 2 3 5
  • Uncharacterized Protein KIAA0040 3 4

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. Diseases associated with KIAA0040 include Alcohol Dependence.

Additional gene information for KIAA0040 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 KIAA0040 Gene

Genomics for KIAA0040 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIAA0040 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
GH01J175188 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 616.2 -0.1 -52 10.7 HNRNPL PRDM10 ZNF629 IKZF1 ZNF692 POLR2A ETV6 FOXA1 PHF21A PKNOX1 KIAA0040 lnc-KIAA0040-2 RF00017-405 TNR
GH01J175207 Enhancer 1 ENCODE dbSUPER 12.5 -16.2 -16206 3.2 REST STAT3 IKZF2 SP1 POLR2A SCRT2 EED ZNF766 DPF2 RELB KIAA0040 ENSG00000230687 piR-48965-003 TNR
GH01J175176 Enhancer 0.7 FANTOM5 Ensembl dbSUPER 18.4 +16.6 16643 0.7 ZNF362 KIAA0040 TNR lnc-KIAA0040-2 lnc-TNN-1 TNN
GH01J175168 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.5 +23.6 23595 4.2 PRDM10 ZNF629 ZNF512 FOXA1 ZNF24 ZNF600 SOX6 PKNOX1 MNT ZXDB KIAA0040 lnc-TNN-1 lnc-KIAA0040-2 TNN
GH01J174871 Enhancer 1 ENCODE dbSUPER 10.5 +321.1 321131 2 TEAD4 RFX1 JUND MTA1 DPF2 HDAC1 SOX6 FOXJ2 TCF12 EP300 RABGAP1L KIAA0040 piR-37895-012 ENSG00000237249 lnc-CACYBP-3 CACYBP GPR52
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIAA0040 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA0040

Top Transcription factor binding sites by QIAGEN in the KIAA0040 gene promoter:
  • AML1a
  • ARP-1
  • C/EBPalpha
  • FOXL1
  • Gfi-1
  • IRF-1
  • IRF-2
  • IRF-7A
  • LCR-F1

Genomic Locations for KIAA0040 Gene

Genomic Locations for KIAA0040 Gene
chr1:175,156,986-175,193,295
(GRCh38/hg38)
Size:
36,310 bases
Orientation:
Minus strand
chr1:175,126,123-175,162,229
(GRCh37/hg19)
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
    • J3QR46
    • Q2NKQ0

    Protein attributes for KIAA0040 Gene

    Size:
    99 amino acids
    Molecular mass:
    11435 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA05022.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAF85380.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAB42560.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAB42561.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=EAW90987.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for KIAA0040 Gene

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

Gene Families for KIAA0040 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KIAA0040 Gene

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KIAA0040 Gene

Function for KIAA0040 Gene

Phenotypes From GWAS Catalog for KIAA0040 Gene

Phenotypes for KIAA0040 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA0040

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

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0040 Gene

Membrane. Single-pass membrane protein.

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 KIAA0040 gene
Compartment Confidence
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KIAA0040 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIAA0040: view

Pathways & Interactions for KIAA0040 Gene

PathCards logo

SuperPathways for KIAA0040 Gene

No Data Available

Interacting Proteins for KIAA0040 Gene

Selected Interacting proteins: Q15053-K0040_HUMAN for KIAA0040 Gene via IID

Symbol External ID(s) Details
KRTAP10-3
MDFI

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

mRNA/cDNA for KIAA0040 Gene

6 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
6 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 KIAA0040

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

No ASD Table

Relevant External Links for KIAA0040 Gene

GeneLoc Exon Structure for
KIAA0040

Expression for KIAA0040 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIAA0040 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Ovary (Reproductive System)

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIAA0040

SOURCE GeneReport for Unigene cluster for KIAA0040 Gene:

Hs.518138

Evidence on tissue expression from TISSUES for KIAA0040 Gene

  • Bone marrow(4)
genes like me logo Genes that share expression patterns with KIAA0040: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Dog
(Canis familiaris)
Mammalia KIAA0040 31
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100302372 30
  • 82.83 (n)
Mouse
(Mus musculus)
Mammalia 4930523C07Rik 30 17 31
  • 82.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC100335299 30
  • 81.14 (n)
Chicken
(Gallus gallus)
Aves KIAA0040 30 31
  • 71.77 (n)
OneToOne
Species where no ortholog for KIAA0040 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)
  • 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 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KIAA0040: view image

Paralogs for KIAA0040 Gene

No data available for Paralogs for KIAA0040 Gene

Variants for KIAA0040 Gene

Additional dbSNP identifiers (rs#s) for KIAA0040 Gene

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

Variant ID Type Subtype PubMed ID
esv28699 CNV loss 19812545
esv3587982 CNV loss 21293372
nsv522101 CNV loss 19592680
nsv528874 CNV loss 19592680
nsv952252 CNV duplication 24416366

Variation tolerance for KIAA0040 Gene

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

Additional Variant Information for KIAA0040 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA0040

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA0040 Gene

Disorders for KIAA0040 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIAA0040 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alcohol dependence
  • alcoholism
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIAA0040

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

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

Publications for KIAA0040 Gene

  1. Family-based association analysis of alcohol dependence implicates KIAA0040 on Chromosome 1q in multiplex alcohol dependence families. (PMID: 24829844) Hill SY … Stiffler S (Open journal of genetics 2013) 2 3
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PMID: 7584026) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

Products for KIAA0040 Gene

Sources for KIAA0040 Gene