KANSL1L

Summary

KANSL1L (KAT8 regulatory NSL complex subunit 1 like, HGNC:26310) is a protein-coding gene on chromosome 2q34, encoding KAT8 regulatory NSL complex subunit 1-like protein (A0AUZ9).

Predicted to enable histone acetyltransferase binding activity. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be part of NSL complex.

Source: NCBI Gene 151050 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 156 total — 1 pathogenic
• MANE Select transcript: NM_152519

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26310
Approved symbol	KANSL1L
Name	KAT8 regulatory NSL complex subunit 1 like
Location	2q34
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23861, FLJ32349, MSL1v2, KIAA1267L
Ensembl gene	ENSG00000144445
Ensembl biotype	protein_coding
OMIM	613833
Entrez	151050

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 13 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000281772, ENST00000415553, ENST00000418791, ENST00000428655, ENST00000429908, ENST00000438563, ENST00000452086, ENST00000453904, ENST00000457374, ENST00000460256, ENST00000634716, ENST00000867424, ENST00000867425, ENST00000867426, ENST00000867427, ENST00000967984, ENST00000967985

RefSeq mRNA: 2 — MANE Select: NM_152519 NM_001307976, NM_152519

CCDS: CCDS33370, CCDS77519

Canonical transcript exons

ENST00000281772 — 15 exons

Exon	Start	End
ENSE00000965169	210104104	210104301
ENSE00001002835	210029803	210029918
ENSE00001002840	210027296	210027350
ENSE00001002842	210028845	210028969
ENSE00001002843	210031421	210031546
ENSE00001123725	210040420	210040527
ENSE00001173078	210075552	210075756
ENSE00001336989	210043939	210044104
ENSE00001362522	210129031	210129172
ENSE00001504502	210024033	210024201
ENSE00001504503	210025104	210025216
ENSE00001618187	210153495	210154611
ENSE00001643572	210021421	210023179
ENSE00001804956	210171149	210171409
ENSE00003503204	210098086	210098207

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 95.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7382 / max 110.0044, expressed in 1646 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
33457	4.8852	1528
33458	1.1634	637
33456	0.6896	314

Top tissues by expression

283 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	95.65	gold quality
nerve	UBERON:0001021	92.61	gold quality
tibial nerve	UBERON:0001323	92.61	gold quality
popliteal artery	UBERON:0002250	92.30	gold quality
tibial artery	UBERON:0007610	92.29	gold quality
adrenal tissue	UBERON:0018303	91.94	gold quality
sural nerve	UBERON:0015488	91.71	gold quality
left ovary	UBERON:0002119	91.12	gold quality
aorta	UBERON:0000947	90.85	gold quality
right ovary	UBERON:0002118	90.46	gold quality
right lung	UBERON:0002167	90.27	gold quality
descending thoracic aorta	UBERON:0002345	90.17	gold quality
right uterine tube	UBERON:0001302	89.70	gold quality
endocervix	UBERON:0000458	89.68	gold quality
metanephros cortex	UBERON:0010533	89.33	gold quality
thoracic aorta	UBERON:0001515	89.26	gold quality
ascending aorta	UBERON:0001496	89.22	gold quality
body of pancreas	UBERON:0001150	89.19	gold quality
ovary	UBERON:0000992	89.18	gold quality
left coronary artery	UBERON:0001626	89.13	gold quality
left lobe of thyroid gland	UBERON:0001120	88.97	gold quality
bronchial epithelial cell	CL:0002328	88.90	gold quality
right coronary artery	UBERON:0001625	88.90	gold quality
gall bladder	UBERON:0002110	88.80	gold quality
ventricular zone	UBERON:0003053	88.62	gold quality
right lobe of thyroid gland	UBERON:0001119	88.55	gold quality
thyroid gland	UBERON:0002046	88.48	gold quality
body of uterus	UBERON:0009853	88.24	gold quality
mucosa of stomach	UBERON:0001199	88.03	gold quality
ectocervix	UBERON:0012249	87.74	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.32
E-MTAB-6386	no	35.50

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

140 targeting KANSL1L, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-3119	99.92	71.34	2390

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	kansl1l	ENSDARG00000075284
mus_musculus	Kansl1l	ENSMUSG00000026004
rattus_norvegicus	Kansl1l	ENSRNOG00000028149
drosophila_melanogaster	nsl1	FBGN0262527

Paralogs (1): KANSL1 (ENSG00000120071)

Protein

Protein identifiers

KAT8 regulatory NSL complex subunit 1-like protein — A0AUZ9 (reviewed: A0AUZ9)

Alternative names: MSL1v2

All UniProt accessions (5): A0AUZ9, A0A0U1RR24, H7BZ78, H7C1T2, H7C2S5

UniProt curated annotations — full annotation on UniProt →

Post-translational modifications. Acetylated on lysine residues by KAT8 upon ionizing radiation-induced DNA damage; deacetylated by HDAC3.

Isoforms (4)

UniProt ID	Names	Canonical?
A0AUZ9-1	1	yes
A0AUZ9-2	2
A0AUZ9-3	3
A0AUZ9-4	4

RefSeq proteins (2): NP_001294905, NP_689732* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026180	NSL1	Family
IPR029332	PEHE_dom	Domain

Pfam: PF15275

UniProt features (22 total): sequence conflict 8, splice variant 5, region of interest 2, compositionally biased region 2, modified residue 2, chain 1, domain 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0AUZ9-F1	50.48	0.07

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 462, 859, 134

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 175 (showing top): CREL_01, TGCGCANK_UNKNOWN, GCANCTGNY_MYOD_Q6, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, SP1_Q2_01, MYCMAX_01, BASAKI_YBX1_TARGETS_DN, ZHANG_BREAST_CANCER_PROGENITORS_UP, BREDEMEYER_RAG_SIGNALING_NOT_VIA_ATM_UP, OCT1_B, YNGTTNNNATT_UNKNOWN, GOCC_H4_HISTONE_ACETYLTRANSFERASE_COMPLEX, GOCC_TRANSFERASE_COMPLEX, YGCGYRCGC_UNKNOWN, AHR_Q5

GO Biological Process (0):

GO Molecular Function (1): histone acetyltransferase binding (GO:0035035)

GO Cellular Component (3): NSL complex (GO:0044545), histone acetyltransferase complex (GO:0000123), H4 histone acetyltransferase complex (GO:1902562)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
enzyme binding	1
H4 histone acetyltransferase complex	1
chromatin	1
protein acetyltransferase complex	1
histone acetyltransferase complex	1

Protein interactions and networks

STRING

604 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KANSL1L	OR7G2	Q8NG99	513
KANSL1L	LANCL1	O43813	500
KANSL1L	KAT8	Q9H7Z6	469
KANSL1L	EP400	Q96L91	437
KANSL1L	MYL1	P05976	436
KANSL1L	ADAM11	O75078	427
KANSL1L	ADAM23	O75077	411
KANSL1L	NUP210L	Q5VU65	409
KANSL1L	MB21D2	Q8IYB1	397
KANSL1L	KANSL3	Q9P2N6	388
KANSL1L	ZNF736	B4DX44	380
KANSL1L	CSRNP3	Q8WYN3	379
KANSL1L	MYL4	P11783	369
KANSL1L	ZNG1E	Q5RIA9	359
KANSL1L	ZNG1F	Q4V339	357
KANSL1L	ZNG1C	Q5JTY5	357

IntAct

5 interactions, top by confidence:

A	B	Type	Score
PHF20L1	KANSL1L	psi-mi:“MI:0914”(association)	0.350
MAGEA10	KANSL1L	psi-mi:“MI:0914”(association)	0.350
EXOC1	KANSL1L	psi-mi:“MI:0915”(physical association)	0.000
KANSL1L	OPTN	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): KANSL1L (Two-hybrid), KANSL1L (Affinity Capture-MS), KANSL1L (Protein-peptide), KANSL1L (Cross-Linking-MS (XL-MS)), BCLAF1 (Cross-Linking-MS (XL-MS)), KANSL1L (Affinity Capture-RNA)

ESM2 similar proteins: A0AUZ9, A0JMF7, A1L2Y1, A3KMW7, A8MT70, A8MW92, A9JRX0, B0CM36, B0S6S9, B7ZS37, D3Z987, F1QB81, O95447, P40649, Q0IHW6, Q0P5X5, Q14B48, Q15468, Q3U285, Q3V089, Q49A88, Q4R815, Q4V9H5, Q5CZC0, Q5DTI6, Q5REF4, Q5T1N1, Q5ZJK5, Q66H35, Q6NRH7, Q6NRK3, Q6ZRS4, Q6ZU52, Q80VP2, Q80WQ8, Q8BLG0, Q8CB14, Q8CCJ9, Q8IUR6, Q8IX21

Diamond homologs: A0AUZ9, Q0IHW6, Q5DTI6, Q80TG1, Q7Z3B3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

156 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	128
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2427041	NC_000002.11:g.(?210636797)(213403254_?)del	Pathogenic

SpliceAI

3415 predictions. Top by Δscore:

Variant	Effect	Δscore
2:210023180:C:CC	acceptor_gain	1.0000
2:210024028:CTTA:C	donor_loss	1.0000
2:210024029:TTAC:T	donor_loss	1.0000
2:210024030:TA:T	donor_loss	1.0000
2:210024031:A:AC	donor_gain	1.0000
2:210024031:AC:A	donor_gain	1.0000
2:210024031:ACCTT:A	donor_loss	1.0000
2:210024032:C:CG	donor_gain	1.0000
2:210024032:CC:C	donor_gain	1.0000
2:210024197:AAGCT:A	acceptor_gain	1.0000
2:210024198:AGCT:A	acceptor_gain	1.0000
2:210024200:CT:C	acceptor_gain	1.0000
2:210024201:TC:T	acceptor_loss	1.0000
2:210024202:C:CC	acceptor_gain	1.0000
2:210024215:C:CT	acceptor_gain	1.0000
2:210024216:A:T	acceptor_gain	1.0000
2:210027289:AGCTT:A	donor_loss	1.0000
2:210027290:GCTTA:G	donor_loss	1.0000
2:210027291:CTTA:C	donor_loss	1.0000
2:210027292:TTA:T	donor_loss	1.0000
2:210027293:TACC:T	donor_loss	1.0000
2:210027294:A:AC	donor_gain	1.0000
2:210027294:ACCTC:A	donor_loss	1.0000
2:210027295:C:CC	donor_gain	1.0000
2:210027295:C:G	donor_loss	1.0000
2:210027295:CCT:C	donor_gain	1.0000
2:210027351:C:CC	acceptor_gain	1.0000
2:210028841:ATACC:A	donor_loss	1.0000
2:210028842:TAC:T	donor_loss	1.0000
2:210028843:A:AC	donor_gain	1.0000

AlphaMissense

6524 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:210098197:A:G	L480S	0.999
2:210129107:A:G	L385P	0.998
2:210129117:A:G	W382R	0.998
2:210129117:A:T	W382R	0.998
2:210027349:A:G	W800R	0.997
2:210027349:A:T	W800R	0.997
2:210129086:A:G	L392P	0.997
2:210028862:C:A	K793N	0.996
2:210028862:C:G	K793N	0.996
2:210104123:A:G	L470P	0.996
2:210129065:A:G	L399P	0.996
2:210028911:A:G	I777T	0.995
2:210104126:A:G	L469P	0.995
2:210129135:C:G	A376P	0.995
2:210104137:G:C	S465R	0.994
2:210104137:G:T	S465R	0.994
2:210104139:T:G	S465R	0.994
2:210129102:C:G	A387P	0.994
2:210028857:A:T	I795K	0.993
2:210028917:A:C	I775S	0.993
2:210098205:A:C	S477R	0.993
2:210098205:A:T	S477R	0.993
2:210098207:T:G	S477R	0.993
2:210153871:C:G	A238P	0.993
2:210027347:C:A	W800C	0.992
2:210027347:C:G	W800C	0.992
2:210028857:A:G	I795T	0.992
2:210028867:A:G	Y792H	0.992
2:210028917:A:T	I775N	0.992
2:210075628:G:T	A560D	0.992

dbSNP variants (sampled 300 via entrez): RS1000005896 (2:210085716 T>C), RS1000020421 (2:210026817 C>T), RS1000021835 (2:210172320 G>A), RS1000023764 (2:210034668 G>A), RS1000038238 (2:210167965 T>C), RS1000039442 (2:210130859 T>C), RS1000059840 (2:210085481 T>A), RS1000070758 (2:210168246 T>C,G), RS1000105602 (2:210121762 G>A,T), RS1000118797 (2:210078689 G>A), RS1000153363 (2:210139561 C>A), RS1000169193 (2:210078443 A>C), RS1000171683 (2:210051820 G>A), RS1000182901 (2:210140703 T>C), RS1000209950 (2:210149702 C>T)

Disease associations

OMIM: gene MIM:613833 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006249_98	Serum metabolite levels	2.000000e-24
GCST006249_99	Serum metabolite levels	3.000000e-33
GCST011053_7	Neuroblastoma (pediatric)	2.000000e-16

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation, affects expression	7
bisphenol A	increases expression, increases methylation	2
sodium arsenite	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
butyraldehyde	decreases expression	1
entinostat	decreases expression	1
belinostat	decreases expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Coal	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression, increases reaction	1
Formaldehyde	decreases expression	1
Progesterone	increases expression	1
Smoke	decreases expression, increases abundance	1
Thimerosal	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.