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KLHL4 kelch like family member 4 [ Homo sapiens (human) ]

Gene ID: 56062, updated on 5-Mar-2024

Summary

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Official Symbol
KLHL4provided by HGNC
Official Full Name
kelch like family member 4provided by HGNC
Primary source
HGNC:HGNC:6355
See related
Ensembl:ENSG00000102271 MIM:300348; AllianceGenome:HGNC:6355
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KHL4; DKELCHL
Summary
This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Biased expression in adrenal (RPKM 14.7), testis (RPKM 4.7) and 4 other tissues See more
Orthologs
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Genomic context

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See KLHL4 in Genome Data Viewer
Location:
Xq21.31
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (87517802..87670050)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (85944797..86097065)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (86772805..86925050)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene dachshund family transcription factor 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86060209-86060734 Neighboring gene COP9 signalosome subunit 8 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86236311-86237305 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:86261248-86262057 Neighboring gene uncharacterized LOC124905267 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:86520149-86521348 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86771985-86772760 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86772761-86773536 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86934749-86935296 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86941929-86942460 Neighboring gene MPRA-validated peak7403 silencer Neighboring gene uncharacterized LOC124905233 Neighboring gene ribosomal protein SA pseudogene 15

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. Genomic imbalances associated with mullerian aplasia. Cheroki C, et al. J Med Genet, 2008 Apr. PMID 18039948
  2. Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and Ankyloglossia (CPX) critical region. Braybrook C, et al. Genomics, 2001 Mar 1. PMID 11401425
  3. KLHL4, a novel p53 target gene, inhibits cell proliferation by activating p21(WAF/CDKN1A). Choi SH, et al. Biochem Biophys Res Commun, 2020 Sep 24. PMID 32753315
  4. Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. Braybrook C, et al. Hum Genet, 2001 Jun. PMID 11499681
  5. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KLHL4, a novel p53 target gene, inhibits cell proliferation by activating p21(WAF/CDKN1A).
    Title: KLHL4, a novel p53 target gene, inhibits cell proliferation by activating p21(WAF/CDKN1A).
Submit: New GeneRIF Correction

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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Markers

Homology

Clone Names

  • KIAA1687

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
kelch-like protein 4

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.

Genomic

  1. NG_012815.2 RefSeqGene

    Range
    5002..157250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_019117.5 → NP_061990.2  kelch-like protein 4 isoform 1

    See identical proteins and their annotated locations for NP_061990.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate last exon as compared to variant 2, resulting in a frameshift and use of a different stop codon. The encoded isoform (1) is 2 aa shorter than isoform 2 and has a distinct C-terminus.
    Source sequence(s)
    AF284765, AL121884, BC161675, Z95400
    Consensus CDS
    CCDS14457.1
    UniProtKB/Swiss-Prot
    B2RTW2, Q9C0H6, Q9Y3J5
    UniProtKB/TrEMBL
    A5PKX1, B3KPK3
    Related
    ENSP00000362211.4, ENST00000373119.9
    Conserved Domains (6) summary
    smart00612
    Location:571 → 617
    Kelch; Kelch domain
    PHA03098
    Location:176 → 698
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:466 → 509
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:172 → 276
    BTB; BTB/POZ domain
    pfam01344
    Location:465 → 510
    Kelch_1; Kelch motif
    pfam07707
    Location:284 → 373
    BACK; BTB And C-terminal Kelch

  2. NM_057162.3 → NP_476503.1  kelch-like protein 4 isoform 2

    See identical proteins and their annotated locations for NP_476503.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform 2 which is 2 aa longer than isoform 1, and has a distinct C-terminus.
    Source sequence(s)
    AF284766, AL035424, AL121884, DB083610
    Consensus CDS
    CCDS14456.1
    UniProtKB/TrEMBL
    B3KPK3
    Related
    ENSP00000362206.4, ENST00000373114.4
    Conserved Domains (6) summary
    smart00612
    Location:571 → 617
    Kelch; Kelch domain
    PHA03098
    Location:176 → 698
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:466 → 509
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:172 → 276
    BTB; BTB/POZ domain
    pfam01344
    Location:465 → 510
    Kelch_1; Kelch motif
    pfam07707
    Location:284 → 373
    BACK; BTB And C-terminal Kelch

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    87517802..87670050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_938403.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    85944797..86097065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008485496.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0H6.2 GenPept UniProtKB/Swiss-Prot:Q9C0H6

Gene LinkOut

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

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