KLHL10 (kelch like family member 10)

Gene

• Entrez ID: 317719
• Gene name: Kelch like family member 10
• Gene symbol: KLHL10
• Synonyms (NCBI Gene): SPGF11
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs116420871	A>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs370756367	G>A	Pathogenic	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0009566	Process	Fertilization	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0048808	Process	Male genitalia morphogenesis	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA

Other IDs

• MIM: 608778
• HGNC: 18829
• e!Ensembl: ENSG00000161594

Protein

• UniProt ID: Q6JEL2
• Protein name: Kelch-like protein 10
• Protein function: May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	29 → 136	BTB/POZ domain	Domain
  PF07707	BACK	141 → 244	BTB And C-terminal Kelch	Domain
  PF01344	Kelch_1	292 → 323	Kelch motif	Repeat
  PF01344	Kelch_1	328 → 373	Kelch motif	Repeat
  PF01344	Kelch_1	375 → 420	Kelch motif	Repeat
  PF01344	Kelch_1	422 → 467	Kelch motif	Repeat
  PF01344	Kelch_1	469 → 514	Kelch motif	Repeat
  PF01344	Kelch_1	516 → 561	Kelch motif	Repeat

• Sequence:

  MEMESAAASTRFHQPHMERKMSAMACEIFNELRLEGKLCDVVIKVNGFEFSAHKNILCSC
  SSYFRALFTSGWNNTEKKVYNIPGISPDMMKLIIEYAYTRTVPITPDNVEKLLAAADQFN
  IMGIVRGCCEFLKSELCLDNCIGICKFTDYYYCPELRQKAYMFILHNFEEMVKVSAEFLE
  LSVTELKDIIEKDELNVKQEDAVFEAILKWISHDPQNRKQHISILLPKVRLALMHAEYFM
  NNVKMNDYVKDSEECKPVIINALKAMYDLNMNGPSNSDFTNPLTRPRLPYAILFAIGGWS
  GGSPTNAIEAYDARADRWVNVTCEEESPRAYHGAAYLKGYVYIIGGFDSVDYFNSVKRFD
  PVKKTWHQVAPMHSRRCYVSVTVLGNFIYAMGGFDGYVRLNTAERYEPETNQWTLIAPMH
  EQRSDASATTLYGKVYICGGFNGNECLFTAEVYNTESNQWTVIAPMRSRRSGIGVIAYGE
  HVYAVGGFDGANRLRSAEAYSPVANTWRTIPTMFNPRSNFGIEVVDDLLFVVGGFNGFTT
  TFNVECYDEKTDEWYDAHDMSIYRSALSCCVVPGLANVEEYAARRDNFPGLALRDEVKYS
  ASTSTLPV

• Sequence length: 608

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spermatogenic failure 11	Pathogenic	rs782565913	RCV001290435	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLHL10-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-obstructive azoospermia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	BEFREE	30544396		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	30544396	Associate	★☆☆☆☆ Found in Text Mining only
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obstructive azoospermia	Obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 11	Spermatogenic Failure	UNIPROT_DG	17047026		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPERMATOGENIC FAILURE 11	Spermatogenic Failure	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPERMATOGENIC FAILURE 11	Spermatogenic Failure	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)