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

    Gene ID: 55295, updated on 27-Nov-2024

    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
    mouse all
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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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18637028..18671721)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18772095..18806817)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18747838..18782531)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18724873-18725393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14329 Neighboring gene transmembrane protein 59 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10414 Neighboring gene Sharpr-MPRA regulatory region 5939 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18748277-18748791 Neighboring gene RNA, 7SL, cytoplasmic 155, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18758904-18759714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18759715-18760525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18762196-18762783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18768110-18768641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18768642-18769172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18771679-18772215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18783189-18783923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18806569-18807467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18810877-18811723 Neighboring gene CREB regulated transcription coactivator 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18820620-18821614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18859933-18860916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18878537-18879414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18879415-18880291 Neighboring gene Sharpr-MPRA regulatory region 9725 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18900694-18901273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901274-18901854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901855-18902433 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 (30) citations in PubMed

    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)

    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
      B4DFF5, 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, Q8TAP0, Q9NUX3
      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: 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_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

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

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