• Gene id: 11133

Gene Summary

• Gene Symbol: KPTN   Gene   UCSC   Ensembl
• Aliases: 2E4, MRT41
• Gene name: kaptin, actin binding protein
• Alternate names: KICSTOR complex protein kaptin, actin-associated protein 2E4, epididymis secretory sperm binding protein,
• Gene location: 19q13.32 (47486791: 47475140)     Exons: 17     NC_000019.10
• Gene summary(Entrez): This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result
• OMIM: 605009

Protein Summary

• Protein general information: Q9Y664  
  • Name: KICSTOR complex protein kaptin (Actin associated protein 2E4)
  • Length: 436  
  • Mass: 48080
• Sequence:

  MMGEAAVAAGPCPLREDSFTRFSSQSNVYGLAGGAGGRGELLAATLKGKVLGFRYQDLRQKIRPVAKELQFNYIP
  VDAEIVSIDTFNKSPPKRGLVVGITFIKDSGDKGSPFLNIYCDYEPGSEYNLDSIAQSCLNLELQFTPFQLCHAE
  VQVGDQLETVFLLSGNDPAIHLYKENEGLHQFEEQPVENLFPELTNLTSSVLWLDVHNFPGTSRRLSALGCQSGY
  VRVAHVDQRSREVLQMWSVLQDGPISRVIVFSLSAAKETKDRPLQDEYSVLVASMLEPAVVYRDLLNRGLEDQLL
  LPGSDQFDSVLCSLVTDVDLDGRPEVLVATYGQELLCYKYRGPESGLPEAQHGFHLLWQRSFSSPLLAMAHVDLT
  GDGLQELAVVSLKGVHILQHSLIQASELVLTRLRHQVEQRRRRLQGLEDGAGAGPAENAAS

• Structural information:
  • Interpro: IPR029982  
  • STRING: ENSP00000337850
• Other Databases: GeneCards:  KPTN  Malacards:  KPTN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0051015	actin filament binding	IBA	molecular function
GO:0034198	cellular response to amino acid starvation	IBA	biological process
GO:1904262	negative regulation of TORC1 signaling	IBA	biological process
GO:0140007	KICSTOR complex	IBA	cellular component
GO:0031941	filamentous actin	IBA	colocalizes with
GO:0030027	lamellipodium	IBA	cellular component
GO:0051015	actin filament binding	IDA	molecular function
GO:0031941	filamentous actin	IDA	colocalizes with
GO:0098871	postsynaptic actin cytoskeleton	IDA	cellular component
GO:0140007	KICSTOR complex	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0034198	cellular response to amino acid starvation	IMP	biological process
GO:0042149	cellular response to glucose starvation	IMP	biological process
GO:0061462	protein localization to lysosome	IMP	biological process
GO:1904262	negative regulation of TORC1 signaling	IMP	biological process
GO:0032420	stereocilium	ISS	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0007015	actin filament organization	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray