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

Gene ID: 55220, updated on 27-Nov-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

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