KLHL13 (kelch like family member 13)

Gene

• Entrez ID: 90293
• Gene name: Kelch like family member 13
• Gene symbol: KLHL13
• Synonyms (NCBI Gene): BKLHD2
• Chromosome: X
• Chromosome location: Xq24
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024225	hsa-miR-218-5p	Sequencing	20371350
MIRT1097504	hsa-miR-1278	CLIP-seq
MIRT1097505	hsa-miR-3185	CLIP-seq
MIRT1097506	hsa-miR-4452	CLIP-seq
MIRT1097507	hsa-miR-4680-3p	CLIP-seq
MIRT1097508	hsa-miR-4724-5p	CLIP-seq
MIRT1097509	hsa-miR-494	CLIP-seq
MIRT1097510	hsa-miR-548k	CLIP-seq
MIRT1097511	hsa-miR-548n	CLIP-seq
MIRT1097512	hsa-miR-671-5p	CLIP-seq
MIRT1097513	hsa-miR-488	CLIP-seq
MIRT1097514	hsa-miR-3591-3p	CLIP-seq
MIRT1097515	hsa-miR-3613-3p	CLIP-seq
MIRT1097516	hsa-miR-4307	CLIP-seq
MIRT1097517	hsa-miR-562	CLIP-seq
MIRT2026475	hsa-miR-3120-3p	CLIP-seq
MIRT2026476	hsa-miR-323b-3p	CLIP-seq
MIRT2026477	hsa-miR-4275	CLIP-seq
MIRT2026478	hsa-miR-4742-3p	CLIP-seq
MIRT2026479	hsa-miR-511	CLIP-seq
MIRT2026480	hsa-miR-518a-5p	CLIP-seq
MIRT2026481	hsa-miR-527	CLIP-seq
MIRT2026482	hsa-miR-642b	CLIP-seq
MIRT2683559	hsa-miR-3140-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	17543862
GO:0005515	Function	Protein binding	IPI	14528312, 17543862, 21145461, 30190310, 34591642
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IDA	17543862
GO:0016567	Process	Protein ubiquitination	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	14528312, 17543862
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IEA
GO:0032465	Process	Regulation of cytokinesis	IBA
GO:0032465	Process	Regulation of cytokinesis	IEA
GO:0032465	Process	Regulation of cytokinesis	IMP	17543862
GO:0051301	Process	Cell division	IEA
GO:0097602	Function	Cullin family protein binding	IBA

Other IDs

• MIM: 300655
• HGNC: 22931
• e!Ensembl: ENSG00000003096

Protein

• UniProt ID: Q9P2N7
• Protein name: Kelch-like protein 13 (BTB and kelch domain-containing protein 2)
• Protein function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dyn
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	82 → 190	BTB/POZ domain	Domain
  PF07707	BACK	196 → 297	BTB And C-terminal Kelch	Domain
  PF01344	Kelch_1	378 → 428	Kelch motif	Repeat
  PF01344	Kelch_1	430 → 475	Kelch motif	Repeat
  PF01344	Kelch_1	477 → 522	Kelch motif	Repeat
  PF01344	Kelch_1	525 → 574	Kelch motif	Repeat
  PF01344	Kelch_1	578 → 623	Kelch motif	Repeat

• Sequence:

  MPLKWKTSSPAIWKFPVPVLKTSRSTPLSPAYISLVEEEDQHMKLSLGGSEMGLSSHLQS
  SKAGPTRIFTSNTHSSVVLQGFDQLRLEGLLCDVTLMPGDTDDAFPVHRVMMASASDYFK
  AMFTGGMKEQDLMCIKLHGVSKVGLRKIIDFIYTAKLSLNMDNLQDTLEAASFLQILPVL
  DFCKVFLISGVTLDNCVEVGRIANTYNLTEVDKYVNSFVLKNFPALLSTGEFLKLPFERL
  AFVLSSNSLKHCTELELFKATCRWLRLEEPRMDFAAKLMKNIRFPLMTPQELINYVQTVD
  FMRTDNTCVNLLLEASNYQMMPYMQPVMQSDRTAIRSDTTHLVTLGGVLRQQLVVSKELR
  MYDEKAHEWKSLAPMDAPRYQHGIAVIGNFLYVVGGQSNYDTKGKTAVDTVFRFDPRYNK
  WMQVASLNEKRTFFHLSALKGYLYAVGGRNAAGELPTVECYNPRTNEWTYVAKMSEPHYG
  HAGTVYGGVMYISGGITHDTFQKELMCFDPDTDKWIQKAPMTTVRGLHCMCTVGERLYVI
  GGNHFRGTSDYDDVLSCEYYSPILDQWTPIAAMLRGQSDVGVAVFENKIYVVGGYSWNNR
  CMVEIVQKYDPDKDEWHKVFDLPESLGGIRACTLTVFPPEETTPSPSRESPLSAP

• Sequence length: 655

Pathways

KEGG:

Ubiquitin mediated proteolysis

Reactome:

Neddylation
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations