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Aliases for KIAA1683 Gene

Aliases for KIAA1683 Gene

  • KIAA1683 2 3

External Ids for KIAA1683 Gene

Previous GeneCards Identifiers for KIAA1683 Gene

  • GC19U990252
  • GC19M018759
  • GC19M018213
  • GC00U914347
  • GC19M018229
  • GC19M018367
  • GC19M017931

Summaries for KIAA1683 Gene

GeneCards Summary for KIAA1683 Gene

KIAA1683 (KIAA1683) is a Protein Coding gene.

Gene Wiki entry for KIAA1683 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1683 Gene

Genomics for KIAA1683 Gene

Regulatory Elements for KIAA1683 Gene

Enhancers for KIAA1683 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G018289 2.1 FANTOM5 Ensembl ENCODE dbSUPER 20.3 -17.7 -17728 6.1 CREB3L1 AGO1 ZFP64 YBX1 DMAP1 YY1 ZNF143 ZNF548 SP3 TBX21 ENSG00000268030 UPF1 ENSG00000268938 ENSG00000269439 MVB12A KIAA1683 JUND COLGALT1 ENSG00000269191 ENSG00000269815
GH19G018277 1.7 Ensembl ENCODE dbSUPER 21.6 -6.1 -6119 6.4 MLX CREB3L1 AGO1 FEZF1 DMAP1 YBX1 YY1 ZNF143 ZNF548 ZNF263 ENSG00000268030 UPF1 ENSG00000268938 KIAA1683 COLGALT1 MVB12A PDE4C LSM4 PGLS MPV17L2
GH19G018273 1.4 Ensembl ENCODE 21.2 -0.7 -669 2.8 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 SP3 SSRP1 GLIS1 RCOR2 KIAA1683 UPF1 ENSG00000268030 ENSG00000268938 MVB12A PDE4C PIR55689
GH19G018286 1.5 Ensembl ENCODE dbSUPER 18.5 -12.8 -12802 2.6 FOXA2 MLX ARNT AGO1 ZFP64 ZNF48 YY1 ETS1 GLIS2 MXD4 KIAA1683 RPL39P38 GC19P019519
GH19G018223 1.1 ENCODE 22.1 +49.6 49643 2.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B ZNF2 ZNF207 ZNF143 FOS PDE4C KIAA1683 MPV17L2 PLVAP LSM4 LOC102725254 LOC729966
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIAA1683 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIAA1683 Gene

Chromosome:
19
Start:
18,257,096 bp from pter
End:
18,274,509 bp from pter
Size:
17,414 bases
Orientation:
Minus strand

Genomic View for KIAA1683 Gene

Genes around KIAA1683 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1683 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1683 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1683 Gene

Proteins for KIAA1683 Gene

  • Protein details for KIAA1683 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0B3-K1683_HUMAN
    Recommended name:
    Uncharacterized protein KIAA1683
    Protein Accession:
    Q9H0B3
    Secondary Accessions:
    • B4DYH2
    • E9PDE0
    • E9PH54
    • Q2KHR5
    • Q8N4G8
    • Q96M14
    • Q9C0I0

    Protein attributes for KIAA1683 Gene

    Size:
    1180 amino acids
    Molecular mass:
    127693 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB21774.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1683 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA1683 Gene

Post-translational modifications for KIAA1683 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KIAA1683 Gene

Domains & Families for KIAA1683 Gene

Protein Domains for KIAA1683 Gene

Suggested Antigen Peptide Sequences for KIAA1683 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA1683: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KIAA1683 Gene

Function for KIAA1683 Gene

Gene Ontology (GO) - Molecular Function for KIAA1683 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with KIAA1683: view

Phenotypes for KIAA1683 Gene

genes like me logo Genes that share phenotypes with KIAA1683: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KIAA1683 Gene

Localization for KIAA1683 Gene

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 KIAA1683 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KIAA1683 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with KIAA1683: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KIAA1683 Gene

Pathways & Interactions for KIAA1683 Gene

SuperPathways for KIAA1683 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA1683 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA1683 Gene

Drugs & Compounds for KIAA1683 Gene

No Compound Related Data Available

Transcripts for KIAA1683 Gene

Unigene Clusters for KIAA1683 Gene

KIAA1683:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1683 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4
SP1:
SP2:
SP3:

Relevant External Links for KIAA1683 Gene

GeneLoc Exon Structure for
KIAA1683
ECgene alternative splicing isoforms for
KIAA1683

Expression for KIAA1683 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIAA1683 Gene

mRNA differential expression in normal tissues according to GTEx for KIAA1683 Gene

This gene is overexpressed in Testis (x12.8).

Protein differential expression in normal tissues from HIPED for KIAA1683 Gene

This gene is overexpressed in Pancreas (50.1) and Testis (18.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KIAA1683 Gene



Protein tissue co-expression partners for KIAA1683 Gene

NURSA nuclear receptor signaling pathways regulating expression of KIAA1683 Gene:

KIAA1683

SOURCE GeneReport for Unigene cluster for KIAA1683 Gene:

Hs.732366

Evidence on tissue expression from TISSUES for KIAA1683 Gene

  • Nervous system(4.1)
  • Skin(4)
genes like me logo Genes that share expression patterns with KIAA1683: 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 KIAA1683 Gene

Orthologs for KIAA1683 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KIAA1683 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1683 34 35
  • 97.95 (n)
dog
(Canis familiaris)
Mammalia KIAA1683 34 35
  • 70.94 (n)
cow
(Bos Taurus)
Mammalia KIAA1683 34 35
  • 70.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1683 35
  • 23 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA1683 35
  • 13 (a)
OneToOne
Species where no ortholog for KIAA1683 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 KIAA1683 Gene

ENSEMBL:
Gene Tree for KIAA1683 (if available)
TreeFam:
Gene Tree for KIAA1683 (if available)

Paralogs for KIAA1683 Gene

No data available for Paralogs for KIAA1683 Gene

Variants for KIAA1683 Gene

Sequence variations from dbSNP and Humsavar for KIAA1683 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000128963 -- 18,266,342(+) GGTCA(C/T)TGTGG reference, missense
rs1000253499 -- 18,275,362(+) CGGGT(C/T)CAAGC upstream-variant-2KB
rs1000717083 -- 18,268,683(+) AGTAG(G/T)CCAGG intron-variant
rs1000770063 -- 18,268,363(+) TGGGT(-/G)GGGGG intron-variant
rs1000940649 -- 18,260,160(+) GACAC(A/G)CATGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA1683 Gene

Variant ID Type Subtype PubMed ID
esv2718287 CNV deletion 23290073
nsv1115541 CNV duplication 24896259
nsv470131 CNV loss 18288195
nsv578744 CNV gain 21841781
nsv828472 CNV loss 20364138
nsv833775 CNV loss 17160897
nsv952420 CNV deletion 24416366

Variation tolerance for KIAA1683 Gene

Residual Variation Intolerance Score: 99.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.03; 87.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA1683 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA1683

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1683 Gene

Disorders for KIAA1683 Gene

Relevant External Links for KIAA1683

Genetic Association Database (GAD)
KIAA1683
Human Genome Epidemiology (HuGE) Navigator
KIAA1683
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA1683

No disorders were found for KIAA1683 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIAA1683 Gene

Publications for KIAA1683 Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 64
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  3. 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 46 64
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for KIAA1683 Gene

Sources for KIAA1683 Gene

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