• Gene id: 84861

Gene Summary

• Gene Symbol: KLHL22   Gene   UCSC   Ensembl
• Aliases: KELCHL
• Gene name: kelch like family member 22
• Alternate names: kelch-like protein 22, kelch-like 22,
• Gene location: 22q11.21 (26280085: 26281521)     Exons: 3     NC_000001.11
• OMIM: 618020

Protein Summary

• Protein general information: Q53GT1  
  • Name: Kelch like protein 22
  • Length: 634  
  • Mass: 71667
• Sequence:

  MAEEQEFTQLCKLPAQPSHPHCVNNTYRSAQHSQALLRGLLALRDSGILFDVVLVVEGRHIEAHRILLAASCDYF
  RGMFAGGLKEMEQEEVLIHGVSYNAMCQILHFIYTSELELSLSNVQETLVAACQLQIPEIIHFCCDFLMSWVDEE
  NILDVYRLAELFDLSRLTEQLDTYILKNFVAFSRTDKYRQLPLEKVYSLLSSNRLEVSCETEVYEGALLYHYSLE
  QVQADQISLHEPPKLLETVRFPLMEAEVLQRLHDKLDPSPLRDTVASALMYHRNESLQPSLQSPQTELRSDFQCV
  VGFGGIHSTPSTVLSDQAKYLNPLLGEWKHFTASLAPRMSNQGIAVLNNFVYLIGGDNNVQGFRAESRCWRYDPR
  HNRWFQIQSLQQEHADLSVCVVGRYIYAVAGRDYHNDLNAVERYDPATNSWAYVAPLKREVYAHAGATLEGKMYI
  TCGRRGEDYLKETHCYDPGSNTWHTLADGPVRRAWHGMATLLNKLYVIGGSNNDAGYRRDVHQVACYSCTSGQWS
  SVCPLPAGHGEPGIAVLDNRIYVLGGRSHNRGSRTGYVHIYDVEKDCWEEGPQLDNSISGLAACVLTLPRSLLLE
  PPRGTPDRSQADPDFASEVMSVSDWEEFDNSSED

• Structural information:
  • Protein Domains: (50..11-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR030575  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000331682
• Other Databases: GeneCards:  KLHL22  Malacards:  KLHL22

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IBA	cellular component
GO:0005827	polar microtubule	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006513	protein monoubiquitination	IBA	biological process
GO:0007094	mitotic spindle assembly checkpoint	IBA	biological process
GO:0072686	mitotic spindle	IBA	cellular component
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0005827	polar microtubule	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005764	lysosome	IDA	colocalizes with
GO:0005829	cytosol	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	colocalizes with
GO:0051301	cell division	IMP	biological process
GO:1904263	positive regulation of TORC1 signaling	IMP	biological process
GO:0071233	cellular response to leucine	IMP	biological process
GO:0071889	14-3-3 protein binding	IPI	molecular function
GO:0007094	mitotic spindle assembly checkpoint	IMP	biological process
GO:0000070	mitotic sister chromatid segregation	IMP	biological process
GO:0010507	negative regulation of autophagy	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0006513	protein monoubiquitination	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray