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    KLHL33 kelch like family member 33 [ Homo sapiens (human) ]

    Gene ID: 123103, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KLHL33provided by HGNC
    Official Full Name
    kelch like family member 33provided by HGNC
    Primary source
    HGNC:HGNC:31952
    See related
    Ensembl:ENSG00000185271 AllianceGenome:HGNC:31952
    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
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL33 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20425852..20436166, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14622721..14633066, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20894011..20904325, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene telomerase associated protein 1 Neighboring gene MPRA-validated peak2111 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:20868788-20869987 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:20880498-20881414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8073 Neighboring gene RNA, 5S ribosomal pseudogene 382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:20897153-20897785 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:20903872-20904781 Neighboring gene solute carrier family 12 member 3 pseudogene Neighboring gene OSGEP/APEX1 bi-directional promoter region Neighboring gene O-sialoglycoprotein endopeptidase

    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. Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. Choy KW, et al. Physiol Genomics, 2006 Mar 13. PMID 16368877
    3. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (6) 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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    Homology

    General protein information

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    Preferred Names
    kelch-like protein 33

    NCBI Reference Sequences (RefSeq)

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    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_001109997.3 → NP_001103467.2  kelch-like protein 33 isoform 2

      See identical proteins and their annotated locations for NP_001103467.2

      Status: VALIDATED

      Source sequence(s)
      AL355075, BC146954, BY797694
      Consensus CDS
      CCDS53882.1
      UniProtKB/Swiss-Prot
      A6NCF5
      UniProtKB/TrEMBL
      B2RUZ8
      Related
      ENSP00000341549.4, ENST00000344581.4
      Conserved Domains (5) summary
      smart00612
      Location:274 → 322
      Kelch; Kelch domain
      smart00875
      Location:75 → 175
      BACK; BTB And C-terminal Kelch
      TIGR03547
      Location:253 → 505
      muta_rot_YjhT; mutatrotase, YjhT family
      sd00038
      Location:312 → 355
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:311 → 356
      Kelch_1; Kelch motif

    2. NM_001365790.2 → NP_001352719.1  kelch-like protein 33 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL355075
      Consensus CDS
      CCDS91847.1
      UniProtKB/TrEMBL
      A0A1B0GUB7
      Related
      ENSP00000490040.1, ENST00000636854.3
      Conserved Domains (4) summary
      smart00875
      Location:339 → 439
      BACK; BTB And C-terminal Kelch
      sd00038
      Location:576 → 619
      Kelch; KELCH repeat [structural motif]
      cl02518
      Location:230 → 298
      BTB; BTB/POZ domain
      cl28614
      Location:538 → 742
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      20425852..20436166 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536450.3 → XP_011534752.1  kelch-like protein 33 isoform X1

      See identical proteins and their annotated locations for XP_011534752.1

      UniProtKB/TrEMBL
      A0A1B0GUB7
      Conserved Domains (4) summary
      smart00875
      Location:339 → 439
      BACK; BTB And C-terminal Kelch
      sd00038
      Location:576 → 619
      Kelch; KELCH repeat [structural motif]
      cl02518
      Location:230 → 298
      BTB; BTB/POZ domain
      cl28614
      Location:538 → 742
      BTB; Broad-Complex, Tramtrack and Bric a brac

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791796.1 Reference GRCh38.p14 PATCHES

      Range
      628533..638847 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333144.1 → XP_054189119.1  kelch-like protein 33 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GUB7

    2. XM_054333143.1 → XP_054189118.1  kelch-like protein 33 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GUB7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      14622721..14633066 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375429.1 → XP_054231404.1  kelch-like protein 33 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NCF5.2 GenPept UniProtKB/Swiss-Prot:A6NCF5

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