Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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

15 Show/Hide all (15)

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

MIM	HGNC	e!Ensembl
608778	18829	ENSG00000161594

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
PF01344	Kelch_1	422 → 467	Kelch motif	Repeat
PF01344	Kelch_1	375 → 420	Kelch motif	Repeat
PF01344	Kelch_1	328 → 373	Kelch motif	Repeat
PF01344	Kelch_1	469 → 514	Kelch motif	Repeat
PF01344	Kelch_1	516 → 561	Kelch motif	Repeat
PF01344	Kelch_1	292 → 323	Kelch motif	Repeat
PF07707	BACK	141 → 244	BTB And C-terminal Kelch	Domain

Sequence

MEMESAAASTRFHQPHMERKMSAMACEIFNELRLEGKLCDVVIKVNGFEFSAHKNILCSC
SSYFRALFTSGWNNTEKKVYNIPGISPDMMKLIIEYAYTRTVPITPDNVEKLLAAADQFN
IMGIVRGCCEFLKSELCLDNCIGICKFTDYYYCPELRQKAYMFILHNFEEMVKVSAEFLE
LSVTELKDIIEKDELNVKQEDAVFEAILKWISHDPQNRKQHISILLPKVRLALMHAEYFM
NNVKMNDYVKDSEECKPVIINALKAMYDLNMNGPSNSDFTNPLTRPRLPYAILFAIGGWS
GGSPTNAIEAYDARADRWVNVTCEEESPRAYHGAAYLKGYVYIIGGFDSVDYFNSVKRFD
PVKKTWHQVAPMHSRRCYVSVTVLGNFIYAMGGFDGYVRLNTAERYEPETNQWTLIAPMH
EQRSDASATTLYGKVYICGGFNGNECLFTAEVYNTESNQWTVIAPMRSRRSGIGVIAYGE
HVYAVGGFDGANRLRSAEAYSPVANTWRTIPTMFNPRSNFGIEVVDDLLFVVGGFNGFTT
TFNVECYDEKTDEWYDAHDMSIYRSALSCCVVPGLANVEEYAARRDNFPGLALRDEVKYS
ASTSTLPV

Sequence length

608

Interactions

View interactions

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)

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

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★★★★ ★★☆☆☆ 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	17047026, 17047026	★★★★★ ★★☆☆☆ 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

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (8)
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)

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TERB2	3	["Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]	[]	6	["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
TEX15	3	["Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]	[]	7	["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","GenCC (Spermatogenic failure)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
ZMYND15	3	["Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]	[]	7	["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","CTD (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
TERB1	3	["Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]	[]	6	["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
TEX14	3	["Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]	[]	6	["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]

KLHL10 (kelch like family member 10)

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