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    KLHL30 kelch like family member 30 [ Homo sapiens (human) ]

    Gene ID: 377007, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KLHL30provided by HGNC
    Official Full Name
    kelch like family member 30provided by HGNC
    Primary source
    HGNC:HGNC:24770
    See related
    Ensembl:ENSG00000168427 AllianceGenome:HGNC:24770
    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
    Biased expression in heart (RPKM 3.1), fat (RPKM 2.9) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL30 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (238138668..238152947)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (238628419..238642688)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239047309..239061588)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene UBE2F-SCLY readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12485 Neighboring gene selenocysteine lyase Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57269 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239002815-239003484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239003485-239004152 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239004821-239005488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239005489-239006157 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239006158-239006825 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239006826-239007494 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239014380-239015290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239015291-239016200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239016201-239017111 Neighboring gene espin like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12486 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239039005-239039675 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239049565-239050078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239061923-239062422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239071799-239072299 Neighboring gene erythroferrone Neighboring gene ILK associated serine/threonine phosphatase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239112345-239113217

    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. Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. Nagai T, et al. J Cell Sci, 2018 Dec 12. PMID 30404837
    2. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, 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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    Markers

    Homology

    Clone Names

    • FLJ43374

    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 30
    Names
    kelch-like 30

    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_198582.4 → NP_940984.3  kelch-like protein 30

      See identical proteins and their annotated locations for NP_940984.3

      Status: VALIDATED

      Source sequence(s)
      AC016757, AK125364, BC103703, BC105696, BX280405
      Consensus CDS
      CCDS46555.2
      UniProtKB/Swiss-Prot
      Q0D2K2, Q6ZUS1
      Related
      ENSP00000386389.1, ENST00000409223.2
      Conserved Domains (6) summary
      smart00612
      Location:328 → 377
      Kelch; Kelch domain
      PHA03098
      Location:29 → 550
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:318 → 363
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:23 → 127
      BTB; BTB/POZ domain
      pfam01344
      Location:366 → 407
      Kelch_1; Kelch motif
      pfam07707
      Location:135 → 237
      BACK; BTB And C-terminal Kelch

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      238138668..238152947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      238628419..238642688
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0D2K2.3 GenPept UniProtKB/Swiss-Prot:Q0D2K2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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