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

Gene ID: 123103, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20425852..20436166, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14622721..14633066, complement)
105.20220307 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)

Genotypes

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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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_2023_10

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

Gene LinkOut

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