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KLHL26 kelch like family member 26 [ Homo sapiens (human) ]

Gene ID: 55295, updated on 6-Sep-2022

Summary

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Official Symbol
KLHL26provided by HGNC
Official Full Name
kelch like family member 26provided by HGNC
Primary source
HGNC:HGNC:25623
See related
Ensembl:ENSG00000167487 AllianceGenome:HGNC:25623
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
Ubiquitous expression in brain (RPKM 4.1), kidney (RPKM 2.8) and 25 other tissues See more
Orthologs
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Genomic context

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See KLHL26 in Genome Data Viewer
Location:
19p13.11
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18637028..18671721)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18772095..18806817)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18747838..18782531)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5939 Neighboring gene RNA, 7SL, cytoplasmic 155, pseudogene Neighboring gene CREB regulated transcription coactivator 1 Neighboring gene cartilage oligomeric matrix protein

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. Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction. Samudrala SSK, et al. Mol Genet Genomic Med, 2020 Apr. PMID 31985165, Free PMC Article
  2. Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. Shi M, et al. Am J Med Genet A, 2012 Apr. PMID 22419666, Free PMC Article
  3. Co-adaptor driven assembly of a CUL3 E3 ligase complex. Akopian D, et al. Mol Cell, 2022 Feb 3. PMID 35120648, Free PMC Article
  4. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
  5. Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent Co-adaptor. McGourty CA, et al. Cell, 2016 Oct 6. PMID 27716508

See all (28) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction.
    Title: Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction.
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

EBI GWAS Catalog

Description
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
EBI GWAS Catalog

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

  • FLJ11078

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
kelch-like protein 26
Names
kelch-like 26

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_001345981.2 → NP_001332910.1  kelch-like protein 26 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC004476, AC008998

  2. NM_001345982.2 → NP_001332911.1  kelch-like protein 26 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate exon and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AC004476, AC008998
    Conserved Domains (2) summary
    sd00038
    Location:341 → 388
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:54 → 596
    BTB; Broad-Complex, Tramtrack and Bric a brac

  3. NM_001345983.2 → NP_001332912.1  kelch-like protein 26 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate first exon and an alternate splice junction compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC004476, AC008998
    Conserved Domains (4) summary
    PHA03098
    Location:27 → 517
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:262 → 309
    Kelch; KELCH repeat [structural motif]
    cd18465
    Location:70 → 166
    BACK_KLHL26; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 26 (KLHL26)
    cl38908
    Location:1 → 75
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

  4. NM_001345984.2 → NP_001332913.1  kelch-like protein 26 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice junction and lacks a large segment of coding region compared to variant 1. The resulting isoform (5) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC004476, AC008998
    Consensus CDS
    CCDS86727.1
    UniProtKB/TrEMBL
    M0R1N0
    Related
    ENSP00000472001.1, ENST00000599006.5
    Conserved Domains (1) summary
    pfam00651
    Location:56 → 136
    BTB; BTB/POZ domain

  5. NM_001345985.2 → NP_001332914.1  kelch-like protein 26 isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (6) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC004476, AC008998
    Consensus CDS
    CCDS86726.1
    UniProtKB/TrEMBL
    M0R1P3
    Related
    ENSP00000472032.1, ENST00000595182.5
    Conserved Domains (1) summary
    cl38908
    Location:45 → 99
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

  6. NM_018316.3 → NP_060786.1  kelch-like protein 26 isoform 2

    See identical proteins and their annotated locations for NP_060786.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC004476, AK001940, BC026319, DA453727
    Consensus CDS
    CCDS12384.1
    UniProtKB/Swiss-Prot
    Q53HC5, Q9NUX3
    UniProtKB/TrEMBL
    A0A024R7N5
    Related
    ENSP00000300976.3, ENST00000300976.9
    Conserved Domains (4) summary
    PHA03098
    Location:65 → 607
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:352 → 399
    Kelch; KELCH repeat [structural motif]
    cd18255
    Location:45 → 165
    BTB_POZ_KLHL26; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 26 (KLHL26)
    cd18465
    Location:160 → 256
    BACK_KLHL26; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 26 (KLHL26)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    18637028..18671721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    18772095..18806817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53HC5.2 GenPept UniProtKB/Swiss-Prot:Q53HC5

Gene LinkOut

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Chemical Information
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