• Gene id: 151050

Gene Summary

• Gene Symbol: KANSL1L   Gene   UCSC   Ensembl
• Aliases: C2orf67, MSL1v2
• Gene name: KAT8 regulatory NSL complex subunit 1 like
• Alternate names: KAT8 regulatory NSL complex subunit 1-like protein, male-specific lethal 1 homolog,
• Gene location: 2q34 (210171408: 210021420)     Exons: 23     NC_000002.12
• OMIM: 613833

Protein Summary

• Protein general information: A0AUZ9  
  • Name: KAT8 regulatory NSL complex subunit 1 like protein (MSL1v2)
  • Length: 987  
  • Mass: 112253
• Sequence:

  MTPALREATAKGISFSSLPSTMESDKMLYMESPRTVDEKLKGDTFSQMLGFPTPEPTLNTNFVNLKHFGSPQSSK
  HYQTVFLMRSNSTLNKHNENYKQKKLGEPSCNKLKNILYNGSNIQLSKICLSHSEEFIKKEPLSDTTSQCMKDVQ
  IILDSNITKDTNVDKVQLQNCKWYQENALLDKVTDAEIKKGLLHCTQKKIVPGHSNVPVSSSAAEKEEEVHARLL
  HCVSKQKILLSQARRTQKHLQMLLAKHVVKHYGQQMKLSMKHQLPKMKTFHEPTTILGNSLPKCTEIKPEVNTLT
  AENKLWDDAKNGFARCTAAEIQRFAFSATGLLSHVEEGLDSDATDSSSDDDLDEYTLRKNVAVNCSTEWKWLVDR
  ARVGSRWTWLQAQISDLECKIQQLTDIHRQIRASKGIVVLEECQLPKDILKKQMQFADQAASLNILGNPQVPQEC
  QDPVPEQDFEMSPSSPTLLLRNIEKQSAQLTEIINSLIAPLNLSPTSSPLSSKSCSHKCLANGIYRSASENLDEL
  SSSSSWLLNQKHSKKKRKDRTRLKSSSLTFMSTSARTRPLQSFHKRKLYRLSPTFYWTPQTLPSKETAFLNTTQM
  PCLQSASTWSSYEHNSESYLLREHVSELDSSFHSVLSLPSDVPLHFHFETLLKKTEIKGNLAENKFVDEYIISPS
  PVHSTLNQWRNGYSPICKPQIRSESSAQLLQGRKKRHLSETALGERTKLEESDFQHTESGSHSNFTAVSNVNVLS
  RIQNSSRNTARRRLRSESSYDIDNIVIPMSLVAPAKLEKLQYKEILTPSWRMVVLQPLDEYNLGKEEIEDLSDEV
  FSLRHKKYEEREQARWSLWEQSKWHRRNSRAYSKNVEGQDLLLKEYPNNFSSSQQCAAASPPGLPSENQDLCAYG
  LPSLNQSQETKSLWWERRAFPLKGEDMAALLCQDEKKDQVERSSTAFHGEIFGTSVPENGHHPKKQSDGMEEYKT
  FGLGLTNVKKNR

• Structural information:
  • Interpro: IPR026180  IPR029332  
  • STRING: ENSP00000281772
• Other Databases: GeneCards:  KANSL1L  Malacards:  KANSL1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046972	histone acetyltransferase activity (H4-K16 specific)	IBA	contributes to
GO:0044545	NSL complex	IBA	cellular component
GO:0043996	histone acetyltransferase activity (H4-K8 specific)	IBA	contributes to
GO:0043995	histone acetyltransferase activity (H4-K5 specific)	IBA	contributes to
GO:0035035	histone acetyltransferase binding	IBA	molecular function
GO:0000123	histone acetyltransferase complex	IEA	cellular component
GO:0043984	histone H4-K16 acetylation	IEA	biological process
GO:0043982	histone H4-K8 acetylation	IEA	biological process
GO:0043981	histone H4-K5 acetylation	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R