Aliases for KIAA1586 Gene

Aliases for KIAA1586 Gene

  • KIAA1586 2 3 5
  • E3 SUMO-Protein Ligase KIAA1586 3 4
  • E3 SUMO-Protein Transferase KIAA1586 4
  • EC 2.3.2.- 4

External Ids for KIAA1586 Gene

Previous GeneCards Identifiers for KIAA1586 Gene

  • GC06P056918
  • GC06P056958
  • GC06P057019
  • GC06P056745
  • GC06P056911

Summaries for KIAA1586 Gene

GeneCards Summary for KIAA1586 Gene

KIAA1586 (KIAA1586) is a Protein Coding gene. Diseases associated with KIAA1586 include Potocki-Lupski Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot Summary for KIAA1586 Gene

  • E3 SUMO-protein ligase; facilitates UBE2I/UBC9-mediated SUMO2 modification of target proteins (PubMed:26524493).

Additional gene information for KIAA1586 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIAA1586 Gene

Genomics for KIAA1586 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIAA1586 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 KIAA1586 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA1586

Top Transcription factor binding sites by QIAGEN in the KIAA1586 gene promoter:
  • ATF-2
  • CUTL1
  • E4BP4
  • Elk-1
  • GATA-1
  • GATA-6
  • Lmo2
  • YY1

Genomic Locations for KIAA1586 Gene

Genomic Locations for KIAA1586 Gene
chr6:57,046,532-57,055,739
(GRCh38/hg38)
Size:
9,208 bases
Orientation:
Plus strand
chr6:56,911,347-56,920,023
(GRCh37/hg19)
Size:
8,677 bases
Orientation:
Plus strand

Genomic View for KIAA1586 Gene

Genes around KIAA1586 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA1586 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA1586 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1586 Gene

Proteins for KIAA1586 Gene

  • Protein details for KIAA1586 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCI6-K1586_HUMAN
    Recommended name:
    E3 SUMO-protein ligase KIAA1586
    Protein Accession:
    Q9HCI6
    Secondary Accessions:
    • A8K4M3
    • Q8IW25

    Protein attributes for KIAA1586 Gene

    Size:
    787 amino acids
    Molecular mass:
    89673 Da
    Quaternary structure:
    • Interacts with UBE2I/UBC9 and SUMO2.
    SequenceCaution:
    • Sequence=BAB13412.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1586 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA1586 Gene

Post-translational modifications for KIAA1586 Gene

  • Ubiquitination at Lys275
  • Modification sites at PhosphoSitePlus

Other Protein References for KIAA1586 Gene

No data available for DME Specific Peptides for KIAA1586 Gene

Domains & Families for KIAA1586 Gene

Gene Families for KIAA1586 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KIAA1586 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA1586 Gene

GenScript: Design optimal peptide antigens:
  • KIAA1586 protein (Q8N303_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HCI6

UniProtKB/Swiss-Prot:

K1586_HUMAN :
  • Binds UBE2I/UBC9 and two SUMO2 molecules via its N-terminus. The most N-terminal region interacts with the SUMO2 chain that is covalently bound to the UBE2I/UBC9 active site, while the second region interacts with another SUMO2 that is non-covalently associated with the same UBE2I/UBC9 chain.
Domain:
  • Binds UBE2I/UBC9 and two SUMO2 molecules via its N-terminus. The most N-terminal region interacts with the SUMO2 chain that is covalently bound to the UBE2I/UBC9 active site, while the second region interacts with another SUMO2 that is non-covalently associated with the same UBE2I/UBC9 chain.
genes like me logo Genes that share domains with KIAA1586: view

Function for KIAA1586 Gene

Molecular function for KIAA1586 Gene

UniProtKB/Swiss-Prot Function:
E3 SUMO-protein ligase; facilitates UBE2I/UBC9-mediated SUMO2 modification of target proteins (PubMed:26524493).

Enzyme Numbers (IUBMB) for KIAA1586 Gene

Phenotypes From GWAS Catalog for KIAA1586 Gene

Gene Ontology (GO) - Molecular Function for KIAA1586 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0061665 SUMO ligase activity IDA 26524493
genes like me logo Genes that share ontologies with KIAA1586: view
genes like me logo Genes that share phenotypes with KIAA1586: view

Animal Model Products

CRISPR Products

miRNA for KIAA1586 Gene

miRTarBase miRNAs that target KIAA1586

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA1586

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA1586 Gene

Localization for KIAA1586 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 KIAA1586 gene
Compartment Confidence
nucleus 2
cytosol 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KIAA1586 Gene

Pathways & Interactions for KIAA1586 Gene

PathCards logo

SuperPathways for KIAA1586 Gene

No Data Available

UniProtKB/Swiss-Prot Q9HCI6-K1586_HUMAN

  • Pathway: Protein modification; protein sumoylation.

Gene Ontology (GO) - Biological Process for KIAA1586 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016925 protein sumoylation IEA --
genes like me logo Genes that share ontologies with KIAA1586: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA1586 Gene

Drugs & Compounds for KIAA1586 Gene

No Compound Related Data Available

Transcripts for KIAA1586 Gene

mRNA/cDNA for KIAA1586 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 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 KIAA1586

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1586 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d
SP1: -
SP2: - -
SP3:
SP4: - -

Relevant External Links for KIAA1586 Gene

GeneLoc Exon Structure for
KIAA1586

Expression for KIAA1586 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIAA1586 Gene

Protein differential expression in normal tissues from HIPED for KIAA1586 Gene

This gene is overexpressed in Fetal heart (20.1), Fetal Brain (12.0), Urinary Bladder (6.9), CD4 Tcells (6.5), and Monocytes (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIAA1586 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIAA1586

SOURCE GeneReport for Unigene cluster for KIAA1586 Gene:

Hs.709521

Evidence on tissue expression from TISSUES for KIAA1586 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with KIAA1586: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA1586 Gene

Orthologs for KIAA1586 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KIAA1586 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA1586 30 31
  • 99.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KIAA1586 31
  • 68 (a)
OneToOne
Species where no ortholog for KIAA1586 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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 KIAA1586 Gene

ENSEMBL:
Gene Tree for KIAA1586 (if available)
TreeFam:
Gene Tree for KIAA1586 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIAA1586: view image

Paralogs for KIAA1586 Gene

(1) SIMAP similar genes for KIAA1586 Gene using alignment to 3 proteins:

  • K1586_HUMAN
  • F5H2N6_HUMAN
  • Q8N303_HUMAN

Pseudogenes.org Pseudogenes for KIAA1586 Gene

genes like me logo Genes that share paralogs with KIAA1586: view

No data available for Paralogs for KIAA1586 Gene

Variants for KIAA1586 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA1586 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs36113897 - p.Phe75Leu
rs6926980 - p.Val81Met

Additional dbSNP identifiers (rs#s) for KIAA1586 Gene

Structural Variations from Database of Genomic Variants (DGV) for KIAA1586 Gene

Variant ID Type Subtype PubMed ID
dgv1780e212 CNV loss 25503493
dgv1781e212 CNV gain 25503493
esv2669750 CNV deletion 23128226
esv2732127 CNV deletion 23290073
esv2763988 CNV loss 21179565
esv3609110 CNV loss 21293372
esv3609111 CNV gain 21293372
esv3609112 CNV loss 21293372
esv3890849 CNV loss 25118596
nsv526143 CNV loss 19592680
nsv603189 CNV loss 21841781
nsv970717 CNV duplication 23825009

Variation tolerance for KIAA1586 Gene

Residual Variation Intolerance Score: 56.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.28; 85.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIAA1586 Gene

Human Gene Mutation Database (HGMD)
KIAA1586
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA1586

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA1586 Gene

Disorders for KIAA1586 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIAA1586 Gene - From: DISEASES

Disorder Aliases PubMed IDs
potocki-lupski syndrome
  • pls
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with KIAA1586: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIAA1586 Gene

Publications for KIAA1586 Gene

  1. A new vertebrate SUMO enzyme family reveals insights into SUMO-chain assembly. (PMID: 26524493) Eisenhardt N … Pichler A (Nature structural & molecular biology 2015) 2 3 4
  2. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  3. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. (PMID: 31452512) Pech MF … Settleman J (eLife 2019) 3
  4. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for KIAA1586 Gene

  • Biorbyt antibodies for KIAA1586

Sources for KIAA1586 Gene