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    KIAA1586 KIAA1586 [ Homo sapiens (human) ]

    Gene ID: 57691, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KIAA1586provided by HGNC
    Official Full Name
    KIAA1586provided by HGNC
    Primary source
    HGNC:HGNC:21360
    See related
    Ensembl:ENSG00000168116 AllianceGenome:HGNC:21360
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables SUMO ligase activity. Involved in protein sumoylation. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 5.5), placenta (RPKM 5.2) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See KIAA1586 in Genome Data Viewer
    Location:
    6p12.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (57046693..57066898)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (56885682..56896296)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (56911491..56920023)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BEN domain containing 6 Neighboring gene ferritin heavy chain 1 pseudogene 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:56895065-56895565 Neighboring gene mitochondrial ribosomal protein L30 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 7771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24708 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:56912079-56912956 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:56954672-56955554 Neighboring gene zinc finger protein 451 Neighboring gene ZNF451 regulatory antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:57037271-57038028 Neighboring gene BAG cochaperone 2 Neighboring gene RAB23, member RAS oncogene family

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A new vertebrate SUMO enzyme family reveals insights into SUMO-chain assembly. Eisenhardt N, et al. Nat Struct Mol Biol, 2015 Dec. PMID 26524493
    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. Nagase T, et al. DNA Res, 2000 Aug 31. PMID 10997877
    3. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. Pech MF, et al. Elife, 2019 Aug 27. PMID 31452512, Free PMC Article
    4. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article
    5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30162

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SUMO ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SUMO ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein sumoylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein sumoylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein sumoylation IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    E3 SUMO-protein ligase KIAA1586

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286274.2 → NP_001273203.1  E3 SUMO-protein ligase KIAA1586 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AK295519, BC041125, CN359914
      Consensus CDS
      CCDS69138.1
      UniProtKB/TrEMBL
      B4DIC2, F5H2N6
      Related
      ENSP00000445507.1, ENST00000545356.6

    2. NM_001286275.2 → NP_001273204.1  E3 SUMO-protein ligase KIAA1586 isoform c

      See identical proteins and their annotated locations for NP_001273204.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      BC041125, BG028983, CN359914
      UniProtKB/TrEMBL
      B4DIC2

    3. NM_001286276.2 → NP_001273205.1  E3 SUMO-protein ligase KIAA1586 isoform c

      See identical proteins and their annotated locations for NP_001273205.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.
      Source sequence(s)
      AL450489, BC041125, BF699031, CN359914
      UniProtKB/TrEMBL
      B4DIC2

    4. NM_020931.4 → NP_065982.1  E3 SUMO-protein ligase KIAA1586 isoform a

      See identical proteins and their annotated locations for NP_065982.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC041125, CN359914
      Consensus CDS
      CCDS34480.1
      UniProtKB/Swiss-Prot
      A8K4M3, Q8IW25, Q9HCI6
      UniProtKB/TrEMBL
      B4DIC2
      Related
      ENSP00000359768.4, ENST00000370733.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      57046693..57066898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514767.3 → XP_011513069.1  E3 SUMO-protein ligase KIAA1586 isoform X1

    RNA

    1. XR_007059283.1 RNA Sequence

    2. XR_007059284.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      56885682..56896296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356112.1 → XP_054212087.1  E3 SUMO-protein ligase KIAA1586 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCI6.2 GenPept UniProtKB/Swiss-Prot:Q9HCI6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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