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

Gene ID: 377007, updated on 27-Nov-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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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.

Chemical Information
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