MultifacetedProtDB - Bologna Biocomputing Group

PDB	Resolution (Å)	PDB name
4CY1	1.5	Crystal structure of the KANSL1-WDR5 complex.
4CY2	2.0	Crystal structure of the KANSL1-WDR5-KANSL2 complex.

GO ontology	GO term	GO description
Biological Process	GO:0006325	chromatin organization
Biological Process	GO:0043984	histone H4-K16 acetylation
Biological Process	GO:0043981	histone H4-K5 acetylation
Biological Process	GO:0043982	histone H4-K8 acetylation
Biological Process	GO:0045893	positive regulation of DNA-templated transcription
Biological Process	GO:0051571	positive regulation of histone H3-K4 methylation
Biological Process	GO:1900095	regulation of dosage compensation by inactivation of X chromosome
Molecular Function	GO:0035035	histone acetyltransferase binding
Cellular Component	GO:0071339	MLL1 complex
Cellular Component	GO:0044545	NSL complex
Cellular Component	GO:0000123	histone acetyltransferase complex
Cellular Component	GO:0000776	kinetochore
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus

InterPro	InterPro name
IPR026180	KAT8 regulatory NSL complex subunit 1
IPR029332	PEHE domain

Pfam	Pfam name
PF15275	PEHE domain

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-3214847	HATs acetylate histones	Leaf	R-HSA-4839726	Chromatin organization

Location	ECO term	Pubmed
Chromosome, centromere, kinetochore	ECO:0000269	PubMed:20813266
Nucleus	ECO:0000269	PubMed:20018852
Nucleus	ECO:0000269

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000075	Renal duplication
HP:0000076	Vesicoureteral reflux
HP:0000119	Abnormality of the genitourinary system
HP:0000126	Hydronephrosis
HP:0000175	Cleft palate
HP:0000189	Narrow palate
HP:0000194	Open mouth
HP:0000204	Cleft upper lip
HP:0000218	High palate
HP:0000232	Everted lower lip vermilion
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000276	Long face
HP:0000286	Epicanthus
HP:0000337	Broad forehead
HP:0000348	High forehead
HP:0000365	Hearing impairment
HP:0000396	Overfolded helix
HP:0000400	Macrotia
HP:0000403	Recurrent otitis media
HP:0000411	Protruding ear
HP:0000414	Bulbous nose
HP:0000426	Prominent nasal bridge
HP:0000430	Underdeveloped nasal alae
HP:0000431	Wide nasal bridge
HP:0000447	Pear-shaped nose
HP:0000486	Strabismus
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000518	Cataract
HP:0000519	Developmental cataract
HP:0000540	Hypermetropia
HP:0000581	Blepharophimosis
HP:0000582	Upslanted palpebral fissure
HP:0000601	Hypotelorism
HP:0000648	Optic atrophy
HP:0000687	Widely spaced teeth
HP:0000708	Atypical behavior
HP:0000729	Autistic behavior
HP:0000739	Anxiety
HP:0000748	Inappropriate laughter
HP:0000750	Delayed speech and language development
HP:0000752	Hyperactivity
HP:0000767	Pectus excavatum
HP:0000768	Pectus carinatum
HP:0000821	Hypothyroidism
HP:0000824	Decreased response to growth hormone stimulation test
HP:0000826	Precocious puberty
HP:0000957	Cafe-au-lait spot
HP:0000958	Dry skin
HP:0000960	Sacral dimple
HP:0000962	Hyperkeratosis
HP:0000964	Eczema
HP:0000968	Ectodermal dysplasia
HP:0001010	Hypopigmentation of the skin
HP:0001028	Hemangioma
HP:0001045	Vitiligo
HP:0001054	Numerous nevi
HP:0001166	Arachnodactyly
HP:0001212	Prominent fingertip pads
HP:0001238	Slender finger
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001256	Intellectual disability, mild
HP:0001263	Global developmental delay
HP:0001274	Agenesis of corpus callosum
HP:0001290	Generalized hypotonia
HP:0001319	Neonatal hypotonia
HP:0001363	Craniosynostosis
HP:0001373	Joint dislocation
HP:0001382	Joint hypermobility
HP:0001385	Hip dysplasia
HP:0001388	Joint laxity
HP:0001466	Contiguous gene syndrome
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001518	Small for gestational age
HP:0001533	Slender build
HP:0001596	Alopecia
HP:0001601	Laryngomalacia
HP:0001611	Hypernasal speech
HP:0001627	Abnormal heart morphology
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001638	Cardiomyopathy
HP:0001642	Pulmonic stenosis
HP:0001643	Patent ductus arteriosus
HP:0001647	Bicuspid aortic valve
HP:0001761	Pes cavus
HP:0001763	Pes planus
HP:0001848	Calcaneovalgus deformity
HP:0001999	Abnormal facial shape
HP:0002011	Morphological central nervous system abnormality
HP:0002021	Pyloric stenosis
HP:0002079	Hypoplasia of the corpus callosum
HP:0002119	Ventriculomegaly
HP:0002197	Generalized-onset seizure
HP:0002205	Recurrent respiratory infections
HP:0002282	Gray matter heterotopia
HP:0002286	Fair hair
HP:0002342	Intellectual disability, moderate
HP:0002353	EEG abnormality
HP:0002414	Spina bifida
HP:0002465	Poor speech
HP:0002616	Aortic root aneurysm
HP:0002650	Scoliosis
HP:0002652	Skeletal dysplasia
HP:0002779	Tracheomalacia
HP:0002808	Kyphosis
HP:0002827	Hip dislocation
HP:0002861	Melanoma
HP:0002948	Vertebral fusion
HP:0003302	Spondylolisthesis
HP:0003307	Hyperlordosis
HP:0004283	Narrow palm
HP:0004322	Short stature
HP:0004942	Aortic aneurysm
HP:0005216	Impaired mastication
HP:0005487	Prominent metopic ridge
HP:0005656	Positional foot deformity
HP:0006006	Hypotrophy of the small hand muscles
HP:0006482	Abnormality of dental morphology
HP:0006610	Wide intermamillary distance
HP:0006813	Focal hemiclonic seizure
HP:0007018	Attention deficit hyperactivity disorder
HP:0007099	Chiari type I malformation
HP:0007359	Focal-onset seizure
HP:0007730	Iris hypopigmentation
HP:0008064	Ichthyosis
HP:0008207	Primary adrenal insufficiency
HP:0008445	Cervical spinal canal stenosis
HP:0008872	Feeding difficulties in infancy
HP:0008897	Postnatal growth retardation
HP:0009130	Hand muscle atrophy
HP:0009928	Thick nasal alae
HP:0010719	Abnormality of hair texture
HP:0010788	Testicular neoplasm
HP:0010864	Intellectual disability, severe
HP:0010945	Fetal pyelectasis
HP:0011098	Speech apraxia
HP:0011182	Interictal epileptiform activity
HP:0011185	EEG with focal epileptiform discharges
HP:0011470	Nasogastric tube feeding in infancy
HP:0011822	Broad chin
HP:0011968	Feeding difficulties
HP:0012433	Abnormal social behavior
HP:0012443	Abnormality of brain morphology
HP:0012683	Pineal cyst
HP:0012699	Anomaly of lower limb diaphyses
HP:0012745	Short palpebral fissure
HP:0025268	Stuttering
HP:0030746	Intraventricular hemorrhage
HP:0040080	Anteverted ears
HP:0100024	Conspicuously happy disposition
HP:0100025	Overfriendliness
HP:0100710	Impulsivity
HP:0100775	Dural ectasia

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	Medium	Approved
appendix	glandular cells	Low	Approved
bone marrow	hematopoietic cells	Low	Approved
breast	glandular cells	Medium	Approved
bronchus	respiratory epithelial cells	Medium	Approved
caudate	neuronal cells	Low	Approved
cerebellum	Purkinje cells	Low	Approved
cerebral cortex	neuronal cells	Medium	Approved
cervix	glandular cells	Low	Approved
cervix	squamous epithelial cells	Low	Approved
colon	endothelial cells	Low	Approved
colon	glandular cells	Medium	Approved
colon	peripheral nerve/ganglion	Low	Approved
duodenum	glandular cells	Medium	Approved
endometrium 1	cells in endometrial stroma	Low	Approved
endometrium 1	glandular cells	Medium	Approved
endometrium 2	cells in endometrial stroma	Low	Approved
endometrium 2	glandular cells	Medium	Approved
epididymis	glandular cells	Low	Approved
esophagus	squamous epithelial cells	Low	Approved
fallopian tube	glandular cells	Low	Approved
gallbladder	glandular cells	Medium	Approved
heart muscle	cardiomyocytes	Low	Approved
hippocampus	neuronal cells	Medium	Approved
kidney	cells in glomeruli	Low	Approved
kidney	cells in tubules	Low	Approved
liver	hepatocytes	Low	Approved
lung	alveolar cells	Low	Approved
lung	macrophages	Low	Approved
lymph node	germinal center cells	Low	Approved
nasopharynx	respiratory epithelial cells	Low	Approved
oral mucosa	squamous epithelial cells	Low	Approved
pancreas	exocrine glandular cells	Medium	Approved
parathyroid gland	glandular cells	Low	Approved
placenta	trophoblastic cells	Medium	Approved
prostate	glandular cells	Low	Approved
rectum	glandular cells	Low	Approved
salivary gland	glandular cells	Low	Approved
seminal vesicle	glandular cells	Low	Approved
skeletal muscle	myocytes	Medium	Approved
skin 1	Langerhans	Low	Approved
skin 1	keratinocytes	Medium	Approved
skin 1	melanocytes	Low	Approved
skin 2	epidermal cells	Low	Approved
small intestine	glandular cells	Medium	Approved
smooth muscle	smooth muscle cells	Low	Approved
spleen	cells in white pulp	Low	Approved
stomach 1	glandular cells	Medium	Approved
stomach 2	glandular cells	Low	Approved
testis	Leydig cells	Low	Approved
testis	cells in seminiferous ducts	Low	Approved
thyroid gland	glandular cells	Medium	Approved
tonsil	squamous epithelial cells	Low	Approved
urinary bladder	urothelial cells	Low	Approved
vagina	squamous epithelial cells	Medium	Approved

Summary of Q7Z3B3

Gene: KANSL1, CENP-36, KIAA1267, MSL1V1, NSL1
Protein: KAT8 regulatory NSL complex subunit 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q7Z3B3

Gene: KANSL1, CENP-36, KIAA1267, MSL1V1, NSL1 Protein: KAT8 regulatory NSL complex subunit 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: KANSL1, CENP-36, KIAA1267, MSL1V1, NSL1
Protein: KAT8 regulatory NSL complex subunit 1