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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001308112.2NP_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:49567
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:437479
      Kelch; KELCH repeat [structural motif]
    2. NM_017658.5NP_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:35553
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:423465
      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_024449635.2XP_024305403.1  kelch-like protein 28 isoform X3

      Conserved Domains (2) summary
      sd00038
      Location:321372
      Kelch; KELCH repeat [structural motif]
      cl28614
      Location:35441
      BTB; Broad-Complex, Tramtrack and Bric a brac
    2. XM_011536847.4XP_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:35553
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:423465
      Kelch; KELCH repeat [structural motif]
    3. XM_005267770.5XP_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:35553
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:423465
      Kelch; KELCH repeat [structural motif]
    4. XM_011536849.3XP_011535151.1  kelch-like protein 28 isoform X2

      Conserved Domains (6) summary
      smart00612
      Location:402447
      Kelch; Kelch domain
      smart00225
      Location:50146
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00038
      Location:335386
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:39142
      BTB; BTB/POZ domain
      pfam01344
      Location:334387
      Kelch_1; Kelch motif
      pfam07707
      Location:151253
      BACK; BTB And C-terminal Kelch
    5. XM_047431491.1XP_047287447.1  kelch-like protein 28 isoform X1

      UniProtKB/Swiss-Prot
      Q0VAL5, Q9NXS3
    6. XM_017021378.2XP_016876867.1  kelch-like protein 28 isoform X5

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

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

      Conserved Domains (3) summary
      smart00225
      Location:50146
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:39142
      BTB; BTB/POZ domain
      pfam07707
      Location:151253
      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_054376239.1XP_054232214.1  kelch-like protein 28 isoform X1

      UniProtKB/Swiss-Prot
      Q0VAL5, Q9NXS3
    2. XM_054376242.1XP_054232217.1  kelch-like protein 28 isoform X3

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

      UniProtKB/Swiss-Prot
      Q0VAL5, Q9NXS3
    4. XM_054376241.1XP_054232216.1  kelch-like protein 28 isoform X2

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

      UniProtKB/Swiss-Prot
      Q0VAL5, Q9NXS3
    6. XM_054376245.1XP_054232220.1  kelch-like protein 28 isoform X5

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

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