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KIAA1586 KIAA1586 [ Homo sapiens (human) ]

Gene ID: 57691, updated on 2-Nov-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, Nov 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 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)

Genotypes

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

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