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    KLHDC8A kelch domain containing 8A [ Homo sapiens (human) ]

    Gene ID: 55220, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KLHDC8Aprovided by HGNC
    Official Full Name
    kelch domain containing 8Aprovided by HGNC
    Primary source
    HGNC:HGNC:25573
    See related
    Ensembl:ENSG00000162873 MIM:614503; AllianceGenome:HGNC:25573
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
    Expression
    Biased expression in ovary (RPKM 76.6) and adrenal (RPKM 7.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHDC8A in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205336061..205357039, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (204600367..204621345, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205305189..205326167, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TMCC2 antisense RNA 1 Neighboring gene transmembrane and coiled-coil domain family 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:205220889-205221086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205226461-205226970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205232393-205233090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205237153-205237653 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205238617-205239137 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205240913 Neighboring gene Sharpr-MPRA regulatory region 11318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205243188-205243769 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205243770-205244352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205244961-205245620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2378 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:205263045-205264244 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:205269741-205270592 and GRCh37_chr1:205270593-205271445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205271446-205272297 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205273151-205274001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1736 Neighboring gene NUAK family kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205312405-205312965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205319640-205320547 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 10 Neighboring gene Sharpr-MPRA regulatory region 5187 Neighboring gene Sharpr-MPRA regulatory region 658 Neighboring gene uncharacterized LOC105371698 Neighboring gene LEMD1 antisense RNA 1 Neighboring gene LEM domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205379638-205380138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1739 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205407203-205407784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205408947-205409526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205409527-205410108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205412350-205412862 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205414397-205414908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205414909-205415420 Neighboring gene BLACAT1 overlapping LEMD1 locus Neighboring gene microRNA 135b

    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. [miRNA-128-3p inhibits malignant behavior of glioma cells by downregulating KLHDC8A expression]. Yu Z, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2023 Sep 20. PMID 37814858, Free PMC Article
    2. Superenhancer activation of KLHDC8A drives glioma ciliation and hedgehog signaling. Lee D, et al. J Clin Invest, 2023 Jan 17. PMID 36394953, Free PMC Article
    3. Mutant EGFR is required for maintenance of glioma growth in vivo, and its ablation leads to escape from receptor dependence. Mukasa A, et al. Proc Natl Acad Sci U S A, 2010 Feb 9. PMID 20133782, Free PMC Article
    4. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. Taipale M, et al. Cell, 2014 Jul 17. PMID 25036637, Free PMC Article
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [miRNA-128-3p inhibits malignant behavior of glioma cells by downregulating KLHDC8A expression].
      Title: [miRNA-128-3p inhibits malignant behavior of glioma cells by downregulating KLHDC8A expression].
    2. Superenhancer activation of KLHDC8A drives glioma ciliation and hedgehog signaling.
      Title: Superenhancer activation of KLHDC8A drives glioma ciliation and hedgehog signaling.
    3. Upregulation of KLHDC8A provides an alternative pathway for xenograft tumors to maintain aggressiveness in the absence of EGFR dependence.
      Title: Mutant EGFR is required for maintenance of glioma growth in vivo, and its ablation leads to escape from receptor dependence.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    • FLJ10748

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kelch domain-containing protein 8A
    Names
    S-delta-E1
    substitute for delta-EGFR expression 1

    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_001271863.2 → NP_001258792.1  kelch domain-containing protein 8A

      See identical proteins and their annotated locations for NP_001258792.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1,2,3, and 4 encode the same protein.
      Source sequence(s)
      AA908205, AC098933, AC098936, AI698122, AK096590, BC036076, DB055006
      Consensus CDS
      CCDS30985.1
      UniProtKB/Swiss-Prot
      B3KU70, Q8IYD2, Q9NVG5
      Related
      ENSP00000356124.3, ENST00000367156.7
      Conserved Domains (2) summary
      sd00038
      Location:21 → 65
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:5 → 209
      BTB; Broad-Complex, Tramtrack and Bric a brac

    2. NM_001271864.2 → NP_001258793.1  kelch domain-containing protein 8A

      See identical proteins and their annotated locations for NP_001258793.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1,2,3, and 4 encode the same protein.
      Source sequence(s)
      AA908205, AC098933, AI698122, AK096590, DA682691
      Consensus CDS
      CCDS30985.1
      UniProtKB/Swiss-Prot
      B3KU70, Q8IYD2, Q9NVG5
      Conserved Domains (2) summary
      sd00038
      Location:21 → 65
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:5 → 209
      BTB; Broad-Complex, Tramtrack and Bric a brac

    3. NM_001271865.2 → NP_001258794.1  kelch domain-containing protein 8A

      See identical proteins and their annotated locations for NP_001258794.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1,2,3, and 4 encode the same protein.
      Source sequence(s)
      AA908205, AC098933, AC098936, AI698122, AK096590, DA718283, DB055006
      Consensus CDS
      CCDS30985.1
      UniProtKB/Swiss-Prot
      B3KU70, Q8IYD2, Q9NVG5
      Related
      ENSP00000442229.1, ENST00000539253.5
      Conserved Domains (2) summary
      sd00038
      Location:21 → 65
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:5 → 209
      BTB; Broad-Complex, Tramtrack and Bric a brac

    4. NM_018203.3 → NP_060673.1  kelch domain-containing protein 8A

      See identical proteins and their annotated locations for NP_060673.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1,2,3, and 4 encode the same protein.
      Source sequence(s)
      AA908205, AC098933, AI698122, AK096590, DA497063, DA776996
      Consensus CDS
      CCDS30985.1
      UniProtKB/Swiss-Prot
      B3KU70, Q8IYD2, Q9NVG5
      Related
      ENSP00000356123.3, ENST00000367155.8
      Conserved Domains (2) summary
      sd00038
      Location:21 → 65
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:5 → 209
      BTB; Broad-Complex, Tramtrack and Bric a brac

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      205336061..205357039 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448121.2 → XP_024303889.1  kelch domain-containing protein 8A isoform X1

      UniProtKB/Swiss-Prot
      B3KU70, Q8IYD2, Q9NVG5
      Conserved Domains (2) summary
      sd00038
      Location:21 → 65
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:5 → 209
      BTB; Broad-Complex, Tramtrack and Bric a brac

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      204600367..204621345 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337423.1 → XP_054193398.1  kelch domain-containing protein 8A isoform X1

      UniProtKB/Swiss-Prot
      B3KU70, Q8IYD2, Q9NVG5

    2. XM_054337424.1 → XP_054193399.1  kelch domain-containing protein 8A isoform X1

      UniProtKB/Swiss-Prot
      B3KU70, Q8IYD2, Q9NVG5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYD2.2 GenPept UniProtKB/Swiss-Prot:Q8IYD2

    Gene LinkOut

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

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