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KLHL13 kelch like family member 13 [ Homo sapiens (human) ]

Gene ID: 90293, updated on 5-Mar-2024

Summary

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Official Symbol
KLHL13provided by HGNC
Official Full Name
kelch like family member 13provided by HGNC
Primary source
HGNC:HGNC:22931
See related
Ensembl:ENSG00000003096 MIM:300655; AllianceGenome:HGNC:22931
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
BKLHD2
Summary
This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Expression
Broad expression in endometrium (RPKM 9.9), kidney (RPKM 3.7) and 15 other tissues See more
Orthologs
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Genomic context

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See KLHL13 in Genome Data Viewer
Location:
Xq24
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (117897813..118117340, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (116275375..116494936, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (117031776..117251303, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SET pseudogene 8 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:116381582-116382781 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:116414963-116415464 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:116415465-116415964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:116438886-116439386 Neighboring gene TCERG1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 7314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:117166141-117166641 Neighboring gene TUBB4B pseudogene 3 Neighboring gene ribosomal protein L12 pseudogene 43

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. A Cul3-based E3 ligase regulates mitosis and is required to maintain the spindle assembly checkpoint in human cells. Sumara I, et al. Cell Cycle, 2007 Dec 15. PMID 18075312
  2. Targeting Cul3-scaffold E3 ligase complex via KLHL substrate adaptors for cancer therapy. Xiang S, et al. Pharmacol Res, 2021 Jul. PMID 33872809
  3. Deficiency of the autophagy gene ATG16L1 induces insulin resistance through KLHL9/KLHL13/CUL3-mediated IRS1 degradation. Frendo-Cumbo S, et al. J Biol Chem, 2019 Nov 1. PMID 31515271, Free PMC Article
  4. KEAP1 Mutations Drive Tumorigenesis by Suppressing SOX9 Ubiquitination and Degradation. Shao N, et al. Adv Sci (Weinh), 2020 Nov. PMID 33173725, Free PMC Article
  5. A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells. Sumara I, et al. Dev Cell, 2007 Jun. PMID 17543862

See all (42) 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

EBI GWAS Catalog

Description
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10262, MGC74791

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cullin family protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
contributes_to ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of Cul3-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
kelch-like protein 13
Names
BTB and kelch domain containing 2
kelch-like 13

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_016759.2 RefSeqGene

    Range
    19240..238237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168299.2 → NP_001161771.1  kelch-like protein 13 isoform b

    See identical proteins and their annotated locations for NP_001161771.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (b) with a distinct and longer N-terminus, compared to isoform a.
    Source sequence(s)
    AK296324, BC008729, DC354391
    Consensus CDS
    CCDS55480.1
    UniProtKB/TrEMBL
    B7ZB44
    Related
    ENSP00000419803.2, ENST00000469946.5
    Conserved Domains (3) summary
    PHA03098
    Location:95 → 638
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:382 → 430
    Kelch; KELCH repeat [structural motif]
    cd18239
    Location:72 → 199
    BTB_POZ_KLHL9_13; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like proteins KLHL9 and KLHL13

  2. NM_001168300.2 → NP_001161772.1  kelch-like protein 13 isoform c

    See identical proteins and their annotated locations for NP_001161772.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (c) with a distinct and shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC006963, AC006968
    Consensus CDS
    CCDS94657.1
    UniProtKB/TrEMBL
    B7ZB44
    Related
    ENSP00000360945.2, ENST00000371878.5
    Conserved Domains (3) summary
    PHA03098
    Location:86 → 629
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:373 → 421
    Kelch; KELCH repeat [structural motif]
    cd18239
    Location:63 → 190
    BTB_POZ_KLHL9_13; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like proteins KLHL9 and KLHL13

  3. NM_001168301.2 → NP_001161773.1  kelch-like protein 13 isoform d

    See identical proteins and their annotated locations for NP_001161773.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (d) with a distinct and shorter N-terminus, compared to isoform a. Both variants 4 and 5 encode the same isoform.
    Source sequence(s)
    AK302713, BC008729, BP380009
    Consensus CDS
    CCDS55481.1
    UniProtKB/TrEMBL
    B7ZB44
    Related
    ENSP00000444450.1, ENST00000541812.5
    Conserved Domains (3) summary
    PHA03098
    Location:76 → 619
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:363 → 411
    Kelch; KELCH repeat [structural motif]
    cd18239
    Location:53 → 180
    BTB_POZ_KLHL9_13; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like proteins KLHL9 and KLHL13

  4. NM_001168302.2 → NP_001161774.1  kelch-like protein 13 isoform d

    See identical proteins and their annotated locations for NP_001161774.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (d) with a distinct and shorter N-terminus, compared to isoform a. Both variants 4 and 5 encode the same isoform.
    Source sequence(s)
    AK316509, BC008729, DB074659, DC343916
    Consensus CDS
    CCDS55481.1
    UniProtKB/TrEMBL
    B7ZB44
    Related
    ENSP00000441029.1, ENST00000540167.6
    Conserved Domains (3) summary
    PHA03098
    Location:76 → 619
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:363 → 411
    Kelch; KELCH repeat [structural motif]
    cd18239
    Location:53 → 180
    BTB_POZ_KLHL9_13; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like proteins KLHL9 and KLHL13

  5. NM_001168303.4 → NP_001161775.2  kelch-like protein 13 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (e) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC003012, AC006963
    UniProtKB/TrEMBL
    A0A0C4DG80, B7ZB44
    Related
    ENSP00000360949.2, ENST00000371882.5
    Conserved Domains (3) summary
    PHA03098
    Location:41 → 584
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:328 → 376
    Kelch; KELCH repeat [structural motif]
    cd18239
    Location:18 → 145
    BTB_POZ_KLHL9_13; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like proteins KLHL9 and KLHL13

  6. NM_001394863.1 → NP_001381792.1  kelch-like protein 13 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC006963, AC006968
    Consensus CDS
    CCDS14571.1
    UniProtKB/Swiss-Prot
    B3KV78, B3KWM7, B7Z3S9, B7Z5P2, B7Z802, D3DWH6, Q6P2E3, Q96QI7, Q9P2N7, Q9UDN9
    UniProtKB/TrEMBL
    B7ZB44
    Conserved Domains (3) summary
    PHA03098
    Location:92 → 635
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:379 → 427
    Kelch; KELCH repeat [structural motif]
    cd18239
    Location:69 → 196
    BTB_POZ_KLHL9_13; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like proteins KLHL9 and KLHL13

  7. NM_001394864.1 → NP_001381793.1  kelch-like protein 13 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC006963, AC006968
    UniProtKB/TrEMBL
    B7ZB44
    Conserved Domains (3) summary
    PHA03098
    Location:86 → 626
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:373 → 421
    Kelch; KELCH repeat [structural motif]
    cd18239
    Location:63 → 190
    BTB_POZ_KLHL9_13; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like proteins KLHL9 and KLHL13

  8. NM_001394866.1 → NP_001381795.1  kelch-like protein 13 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC003012, AC006963
    UniProtKB/TrEMBL
    B7ZB44
    Conserved Domains (3) summary
    PHA03098
    Location:50 → 590
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:337 → 385
    Kelch; KELCH repeat [structural motif]
    cd18239
    Location:27 → 154
    BTB_POZ_KLHL9_13; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like proteins KLHL9 and KLHL13

  9. NM_033495.4 → NP_277030.2  kelch-like protein 13 isoform a

    See identical proteins and their annotated locations for NP_277030.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
    Source sequence(s)
    AC006963, AC006968
    Consensus CDS
    CCDS14571.1
    UniProtKB/Swiss-Prot
    B3KV78, B3KWM7, B7Z3S9, B7Z5P2, B7Z802, D3DWH6, Q6P2E3, Q96QI7, Q9P2N7, Q9UDN9
    UniProtKB/TrEMBL
    B7ZB44
    Related
    ENSP00000262820.3, ENST00000262820.7
    Conserved Domains (3) summary
    PHA03098
    Location:92 → 635
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:379 → 427
    Kelch; KELCH repeat [structural motif]
    cd18239
    Location:69 → 196
    BTB_POZ_KLHL9_13; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like proteins KLHL9 and KLHL13

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
    117897813..118117340 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    116275375..116494936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001394865.3: Suppressed sequence

    Description
    NM_001394865.3: This RefSeq was removed because it was a duplicate of NM_001168303.4.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2N7.3 GenPept UniProtKB/Swiss-Prot:Q9P2N7

Gene LinkOut

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