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

    Gene ID: 54813, updated on 27-Nov-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
    mouse all
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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
    • 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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