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KLHL28 kelch like family member 28 [ Homo sapiens (human) ]

Gene ID: 54813, updated on 10-Oct-2024

Summary

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Official Symbol
KLHL28provided by HGNC
Official Full Name
kelch like family member 28provided by HGNC
Primary source
HGNC:HGNC:19741
See related
Ensembl:ENSG00000179454 AllianceGenome:HGNC:19741
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
Also known as
BTBD5
Expression
Ubiquitous expression in brain (RPKM 3.6), thyroid (RPKM 3.5) and 25 other tissues See more
Orthologs
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Genomic context

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See KLHL28 in Genome Data Viewer
Location:
14q21.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (44924324..44961947, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (39116310..39154493, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (45393527..45431150, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:45366797-45367296 Neighboring gene uncharacterized LOC101927418 Neighboring gene Ras related GTP binding A pseudogene 1 Neighboring gene chromosome 14 open reading frame 28 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8295 Neighboring gene H3K27ac hESC enhancers GRCh37_chr14:45430821-45431335 and GRCh37_chr14:45431336-45431850 Neighboring gene TOG array regulator of axonemal microtubules 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8297 Neighboring gene Sharpr-MPRA regulatory region 2603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5694 Neighboring gene PRPF39 divergent transcript

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. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
  2. A proteome-scale map of the SARS-CoV-2-human contactome. Kim DK, et al. Nat Biotechnol, 2023 Jan. PMID 36217029, Free PMC Article
  3. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article
  4. Paralog knockout profiling identifies DUSP4 and DUSP6 as a digenic dependence in MAPK pathway-driven cancers. Ito T, et al. Nat Genet, 2021 Dec. PMID 34857952
  5. K48- and K63-linked ubiquitin chain interactome reveals branch- and length-specific ubiquitin interactors. Waltho A, et al. Life Sci Alliance, 2024 Aug. PMID 38803224, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

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

  • FLJ20081

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ubiquitin-like ligase-substrate adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of Cul3-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
kelch-like protein 28
Names
BTB (POZ) domain containing 5
BTB/POZ domain-containing protein 5
kelch-like 28

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_001308112.2 → NP_001295041.1  kelch-like protein 28 isoform 1

    See identical proteins and their annotated locations for NP_001295041.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK289855, AL049870, BC057794, HY342026
    Consensus CDS
    CCDS76675.1
    UniProtKB/TrEMBL
    A8K1E0, J3KNY7
    Related
    ENSP00000347193.2, ENST00000355081.3
    Conserved Domains (2) summary
    PHA03098
    Location:49 → 567
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:437 → 479
    Kelch; KELCH repeat [structural motif]

  2. NM_017658.5 → NP_060128.2  kelch-like protein 28 isoform 2

    See identical proteins and their annotated locations for NP_060128.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5'-terminal exon, which results in a different 5' UTR and use of a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AL049870, BC121009, BM998529, DA247273
    Consensus CDS
    CCDS9680.1
    UniProtKB/Swiss-Prot
    Q0VAL5, Q9NXS3
    UniProtKB/TrEMBL
    A8K1E0
    Related
    ENSP00000379434.4, ENST00000396128.9
    Conserved Domains (2) summary
    PHA03098
    Location:35 → 553
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:423 → 465
    Kelch; KELCH repeat [structural motif]

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    44924324..44961947 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449635.2 → XP_024305403.1  kelch-like protein 28 isoform X3

    Conserved Domains (2) summary
    sd00038
    Location:321 → 372
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:35 → 441
    BTB; Broad-Complex, Tramtrack and Bric a brac

  2. XM_011536847.4 → XP_011535149.1  kelch-like protein 28 isoform X1

    See identical proteins and their annotated locations for XP_011535149.1

    UniProtKB/Swiss-Prot
    Q0VAL5, Q9NXS3
    UniProtKB/TrEMBL
    A8K1E0
    Conserved Domains (2) summary
    PHA03098
    Location:35 → 553
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:423 → 465
    Kelch; KELCH repeat [structural motif]

  3. XM_005267770.5 → XP_005267827.1  kelch-like protein 28 isoform X1

    See identical proteins and their annotated locations for XP_005267827.1

    UniProtKB/Swiss-Prot
    Q0VAL5, Q9NXS3
    UniProtKB/TrEMBL
    A8K1E0
    Conserved Domains (2) summary
    PHA03098
    Location:35 → 553
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:423 → 465
    Kelch; KELCH repeat [structural motif]

  4. XM_011536849.3 → XP_011535151.1  kelch-like protein 28 isoform X2

    Conserved Domains (6) summary
    smart00612
    Location:402 → 447
    Kelch; Kelch domain
    smart00225
    Location:50 → 146
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:335 → 386
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:39 → 142
    BTB; BTB/POZ domain
    pfam01344
    Location:334 → 387
    Kelch_1; Kelch motif
    pfam07707
    Location:151 → 253
    BACK; BTB And C-terminal Kelch

  5. XM_047431491.1 → XP_047287447.1  kelch-like protein 28 isoform X1

    UniProtKB/Swiss-Prot
    Q0VAL5, Q9NXS3

  6. XM_017021378.2 → XP_016876867.1  kelch-like protein 28 isoform X5

  7. XM_047431492.1 → XP_047287448.1  kelch-like protein 28 isoform X5

  8. XM_006720174.4 → XP_006720237.1  kelch-like protein 28 isoform X4

    Conserved Domains (3) summary
    smart00225
    Location:50 → 146
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:39 → 142
    BTB; BTB/POZ domain
    pfam07707
    Location:151 → 253
    BACK; BTB And C-terminal Kelch

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    39116310..39154493 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376239.1 → XP_054232214.1  kelch-like protein 28 isoform X1

    UniProtKB/Swiss-Prot
    Q0VAL5, Q9NXS3

  2. XM_054376242.1 → XP_054232217.1  kelch-like protein 28 isoform X3

  3. XM_054376238.1 → XP_054232213.1  kelch-like protein 28 isoform X1

    UniProtKB/Swiss-Prot
    Q0VAL5, Q9NXS3

  4. XM_054376241.1 → XP_054232216.1  kelch-like protein 28 isoform X2

  5. XM_054376240.1 → XP_054232215.1  kelch-like protein 28 isoform X1

    UniProtKB/Swiss-Prot
    Q0VAL5, Q9NXS3

  6. XM_054376245.1 → XP_054232220.1  kelch-like protein 28 isoform X5

  7. XM_054376244.1 → XP_054232219.1  kelch-like protein 28 isoform X5

  8. XM_054376243.1 → XP_054232218.1  kelch-like protein 28 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NXS3.2 GenPept UniProtKB/Swiss-Prot:Q9NXS3

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