• Gene id: 317719

Gene Summary

• Gene Symbol: KLHL10   Gene   UCSC   Ensembl
• Aliases: SPGF11
• Gene name: kelch like family member 10
• Alternate names: kelch-like protein 10, testicular tissue protein Li 104,
• Gene location: 17q21.2 (41835684: 41848367)     Exons: 7     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 608778

SNPs

rs36065902

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.41841870A>T
NW_003571052.1   g.128512A>T
NG_051246.1   g.11186A>T
NM_152467.5   c.242A>T
NM_152467.4   c.242A>T
NM_152467.3   c.242A>T
NM_001329596.2   c.-23A>T
NM_001329596.1   c.-23A>T
NM_001329595.1   c.242A>T
NC_000017.10   g.39998122A>T
NP_689680.2  

rs61752339

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.41845328T>C
NW_003571052.1   g.131970T>C
NG_051246.1   g.14644T>C
NM_152467.5   c.887T>C
NM_152467.4   c.887T>C
NM_152467.3   c.887T>C
NM_001329596.2   c.623T>C
NM_001329596.1   c.623T>C
NM_001329595.1   c.887T>C
NC_000017.10   g.40001580T>C
NP_689680.2  

Protein Summary

• Protein general information: Q6JEL2  
  • Name: Kelch like protein 10
  • Length: 608  
  • Mass: 68,942
• Sequence:

  MEMESAAASTRFHQPHMERKMSAMACEIFNELRLEGKLCDVVIKVNGFEFSAHKNILCSCSSYFRALFTSGWNNT
  EKKVYNIPGISPDMMKLIIEYAYTRTVPITPDNVEKLLAAADQFNIMGIVRGCCEFLKSELCLDNCIGICKFTDY
  YYCPELRQKAYMFILHNFEEMVKVSAEFLELSVTELKDIIEKDELNVKQEDAVFEAILKWISHDPQNRKQHISIL
  LPKVRLALMHAEYFMNNVKMNDYVKDSEECKPVIINALKAMYDLNMNGPSNSDFTNPLTRPRLPYAILFAIGGWS
  GGSPTNAIEAYDARADRWVNVTCEEESPRAYHGAAYLKGYVYIIGGFDSVDYFNSVKRFDPVKKTWHQVAPMHSR
  RCYVSVTVLGNFIYAMGGFDGYVRLNTAERYEPETNQWTLIAPMHEQRSDASATTLYGKVYICGGFNGNECLFTA
  EVYNTESNQWTVIAPMRSRRSGIGVIAYGEHVYAVGGFDGANRLRSAEAYSPVANTWRTIPTMFNPRSNFGIEVV
  DDLLFVVGGFNGFTTTFNVECYDEKTDEWYDAHDMSIYRSALSCCVVPGLANVEEYAARRDNFPGLALRDEVKYS
  ASTSTLPV

• Structural information:
  • Protein Domains: BTB. (39-106)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000293303
• Other Databases: GeneCards:  KLHL10  Malacards:  KLHL10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000902	cell morphogenesis	IEA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0007286	spermatid development	IBA	biological process
GO:0008584	male gonad development	IBA	biological process
GO:0009566	fertilization	IBA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IBA	cellular component
GO:0048808	male genitalia morphogenesis	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0000902	cell morphogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007283	spermatogenesis	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0007286	spermatid development	IBA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0008584	male gonad development	IBA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0009566	fertilization	IBA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IBA	cellular component
GO:0048808	male genitalia morphogenesis	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0007286	spermatid development	IBA	biological process
GO:0008584	male gonad development	IBA	biological process
GO:0009566	fertilization	IBA	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IBA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function

Diseases

Associated diseases	References
Spermatogenesis defects	KEGG: H01282
Male factor infertility	MIK: 17047026
Azoospermia	MIK: 20218307
Oligozoospermia	MIK: 17047026
Asthenozoospermia	MIK: 20218307
Azoospermia	MIK: 20218307
Asthenozoospermia	MIK: 20218307
Male infertility	MIK: 15136734
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Oligozoospermia	MIK: 17047026
Spermatogenic impairment	MIK: 32242295
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20218307	Azoospermia, oligospermia, asthenospermia	KLHL-10 ((C88 --> A), (C424 --> A))	Chinese	425 (325 patients (11 with idiopathic azoospermia, 196 oligozoospermia, 118 with asthenospermia), 100 fertile controls)	Male infertility	KLHL-10
17047026	Oligozoospermia	KLHL10 (A313T, Q216P)		664 (270 severely oligozoospermic patients, 394 controls)	Male infertility	KLHL10
15136734	Male infertility				Male infertility
31479588	Non obstructive azoospermia	c.242A>T p.(Asn81Ile)	Brazil, South America n	20 non-obstructive azoospermia	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
32242295	Spermatogenic impairment	c.242 A>T, p.Asn81Ile rs36065902, c.1029 T>C, p.Ile296Thr rs61752339	Caucasi an	1100 subjects	Male infertility