• Gene id: 284058

Gene Summary

• Gene Symbol: KANSL1   Gene   UCSC   Ensembl
• Aliases: CENP-36, KDVS, KIAA1267, MSL1v1, NSL1, hMSL1v1
• Gene name: KAT8 regulatory NSL complex subunit 1
• Alternate names: KAT8 regulatory NSL complex subunit 1, MLL1/MLL complex subunit KANSL1, MSL1 homolog 1, NSL complex protein NSL1, centromere protein 36, male-specific lethal 1 homolog, non-specific lethal 1 homolog,
• Gene location: 17q21.31 (46225373: 46027334)     Exons: 20     NC_000017.11
• Gene summary(Entrez): This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a
• OMIM: 612452

Protein Summary

• Protein general information: Q7Z3B3  
  • Name: KAT8 regulatory NSL complex subunit 1 (MLL1/MLL complex subunit KANSL1) (MSL1 homolog 1) (hMSL1v1) (NSL complex protein NSL1) (Non specific lethal 1 homolog)
  • Length: 1105  
  • Mass: 121025
  • Tissue specificity: Expressed in the brain. {ECO
• Sequence:

  MAAMAPALTDAAAEAHHIRFKLAPPSSTLSPGSAENNGNANILIAANGTKRKAIAAEDPSLDFRNNPTKEDLGKL
  QPLVASYLCSDVTSVPSKESLKLQGVFSKQTVLKSHPLLSQSYELRAELLGRQPVLEFSLENLRTMNTSGQTALP
  QAPVNGLAKKLTKSSTHSDHDNSTSLNGGKRALTSSALHGGEMGGSESGDLKGGMTNCTLPHRSLDVEHTTLYSN
  NSTANKSSVNSMEQPALQGSSRLSPGTDSSSNLGGVKLEGKKSPLSSILFSALDSDTRITALLRRQADIESRARR
  LQKRLQVVQAKQVERHIQHQLGGFLEKTLSKLPNLESLRPRSQLMLTRKAEAALRKAASETTTSEGLSNFLKSNS
  ISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTRADPEQRHVPLRRRSEWKWAADRAAIVSRWN
  WLQAHVSDLEYRIRQQTDIYKQIRANKGLIVLGEVPPPEHTTDLFLPLSSEVKTDHGTDKLIESVSQPLENHGAR
  IIGHISESLSTKSCGALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCVAARTRPVLSCK
  KRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQLDSCVHPVLAFPDDV
  PTSLHFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSARKDRHKLVSSFLTTAKLSHHQTRPDRTHRQH
  LDDVGAVPMVERVTAPKAERLLNPPPPVHDPNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQ
  LSTSSDSPAPASSSSQVTASTSQQPVRRRRGESSFDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKG
  SPDEENEEIEDLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYRSSDGRTTPQLGSANPSTPQPASPDVS
  SSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRCSTPELGLDEQSVQPWERRTFPLAHSPQAEC
  EDQLDAQERAARCTRRTSGSKTGRETEAAPTSPPIVPLKSRHLVAAATAQRPTHR

• Structural information:
  • Interpro: IPR026180  IPR029332  
  • PDB: 4CY1 4CY2
  • PDBsum: 4CY1 4CY2
  • STRING: ENSP00000262419
• Other Databases: GeneCards:  KANSL1  Malacards:  KANSL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043996	histone acetyltransferase activity (H4-K8 specific)	IBA	contributes to
GO:0044545	NSL complex	IBA	cellular component
GO:0046972	histone acetyltransferase activity (H4-K16 specific)	IBA	contributes to
GO:0035035	histone acetyltransferase binding	IBA	molecular function
GO:0043995	histone acetyltransferase activity (H4-K5 specific)	IBA	contributes to
GO:0071339	MLL1 complex	IDA	cellular component
GO:0043995	histone acetyltransferase activity (H4-K5 specific)	IDA	contributes to
GO:0046972	histone acetyltransferase activity (H4-K16 specific)	IDA	contributes to
GO:0043996	histone acetyltransferase activity (H4-K8 specific)	IDA	contributes to
GO:0043984	histone H4-K16 acetylation	IDA	biological process
GO:0043982	histone H4-K8 acetylation	IDA	biological process
GO:0043981	histone H4-K5 acetylation	IDA	biological process
GO:0000123	histone acetyltransferase complex	IDA	cellular component
GO:0000123	histone acetyltransferase complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Koolen-De Vries syndrome	KEGG:H02121
Koolen-De Vries syndrome	KEGG:H02121
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray