MultifacetedProtDB - Bologna Biocomputing Group

Structure

PDB	Resolution (Å)	PDB name
2XZG	1.7	Clathrin Terminal Domain Complexed with Pitstop 1
4G55	1.69	Clathrin terminal domain complexed with pitstop 2
6E4L	1.6	The structure of the N-terminal domain of human clathrin heavy chain 1 (nTD) in complex with ES9
6QNN	2.03	CLATHRIN HEAVY CHAIN N-TERMINAL DOMAIN BOUND TO GTSE1 LIDL MOTIF
6QNP	2.7	CLATHRIN HEAVY CHAIN N-TERMINAL DOMAIN BOUND TO GTSE1 LIDL MOTIF
7BN1	1.97	Clathrin heavy chain N-terminal domain complexed with peptide from Protein mu-NS of Reovirus type 1
7BN2	1.965	Clathrin heavy chain N-terminal domain bound to Non structured protein 3 from Eastern Equine Encephalitis Virus
7ZX4	2.08	Clathrin N-terminal domain in complex with a HURP phospho-peptide

GO term

GO ontology	GO term	GO description
Biological Process	GO:0150093	amyloid-beta clearance by transcytosis
Biological Process	GO:0006914	autophagy
Biological Process	GO:0051301	cell division
Biological Process	GO:0048268	clathrin coat assembly
Biological Process	GO:0072583	clathrin-dependent endocytosis
Biological Process	GO:0006886	intracellular protein transport
Biological Process	GO:0000278	mitotic cell cycle
Biological Process	GO:1900126	negative regulation of hyaluronan biosynthetic process
Biological Process	GO:1903077	negative regulation of protein localization to plasma membrane
Biological Process	GO:0001649	osteoblast differentiation
Biological Process	GO:0031623	receptor internalization
Biological Process	GO:0006898	receptor-mediated endocytosis
Biological Process	GO:0060236	regulation of mitotic spindle organization
Biological Process	GO:0042147	retrograde transport, endosome to Golgi
Biological Process	GO:0033572	transferrin transport
Molecular Function	GO:0003723	RNA binding
Molecular Function	GO:0032051	clathrin light chain binding
Molecular Function	GO:0097718	disordered domain specific binding
Molecular Function	GO:0003725	double-stranded RNA binding
Molecular Function	GO:0050750	low-density lipoprotein particle receptor binding
Molecular Function	GO:0019901	protein kinase binding
Molecular Function	GO:0005198	structural molecule activity
Molecular Function	GO:1990381	ubiquitin-specific protease binding
Cellular Component	GO:0030118	clathrin coat
Cellular Component	GO:0030132	clathrin coat of coated pit
Cellular Component	GO:0030130	clathrin coat of trans-Golgi network vesicle
Cellular Component	GO:0071439	clathrin complex
Cellular Component	GO:0045334	clathrin-coated endocytic vesicle
Cellular Component	GO:0030669	clathrin-coated endocytic vesicle membrane
Cellular Component	GO:0030136	clathrin-coated vesicle
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0036020	endolysosome membrane
Cellular Component	GO:0005768	endosome
Cellular Component	GO:0070062	extracellular exosome
Cellular Component	GO:1903561	extracellular vesicle
Cellular Component	GO:0005925	focal adhesion
Cellular Component	GO:0005764	lysosome
Cellular Component	GO:0042470	melanosome
Cellular Component	GO:0016020	membrane
Cellular Component	GO:0072686	mitotic spindle
Cellular Component	GO:1990498	mitotic spindle microtubule
Cellular Component	GO:0005886	plasma membrane
Cellular Component	GO:0032991	protein-containing complex
Cellular Component	GO:0005819	spindle
Cellular Component	GO:0032588	trans-Golgi network membrane

InterPro / Pfam

InterPro	InterPro name
IPR000547	Clathrin, heavy chain/VPS, 7-fold repeat
IPR011990	Tetratricopeptide-like helical domain superfamily
IPR015348	Clathrin, heavy chain, linker, core motif
IPR016024	Armadillo-type fold
IPR016025	Clathrin heavy chain, N-terminal
IPR016341	Clathrin, heavy chain
IPR022365	Clathrin, heavy chain, propeller repeat

Pfam	Pfam name
PF00637	Region in Clathrin and VPS
PF01394	Clathrin propeller repeat
PF09268	Clathrin, heavy-chain linker
PF13838	Clathrin-H-link

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-168275	Entry of Influenza Virion into Host Cell via Endocytosis	Leaf	R-HSA-1643685	Disease
R-HSA-177504	Retrograde neurotrophin signalling	Leaf	R-HSA-162582	Signal Transduction
R-HSA-190873	Gap junction degradation	Internal node	R-HSA-5653656	Vesicle-mediated transport
R-HSA-196025	Formation of annular gap junctions	Leaf	R-HSA-5653656	Vesicle-mediated transport
R-HSA-2132295	MHC class II antigen presentation	Leaf	R-HSA-168256	Immune System
R-HSA-3928665	EPH-ephrin mediated repulsion of cells	Leaf	R-HSA-1266738	Developmental Biology
R-HSA-432720	Lysosome Vesicle Biogenesis	Leaf	R-HSA-5653656	Vesicle-mediated transport
R-HSA-432722	Golgi Associated Vesicle Biogenesis	Leaf	R-HSA-5653656	Vesicle-mediated transport
R-HSA-437239	Recycling pathway of L1	Leaf	R-HSA-1266738	Developmental Biology
R-HSA-5099900	WNT5A-dependent internalization of FZD4	Leaf	R-HSA-162582	Signal Transduction
R-HSA-5140745	WNT5A-dependent internalization of FZD2, FZD5 and ROR2	Leaf	R-HSA-162582	Signal Transduction
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis	Leaf	R-HSA-5653656	Vesicle-mediated transport
R-HSA-8856828	Clathrin-mediated endocytosis	Internal node	R-HSA-5653656	Vesicle-mediated transport
R-HSA-8866427	VLDLR internalisation and degradation	Leaf	R-HSA-382551	Transport of small molecules
R-HSA-8964038	LDL clearance	Leaf	R-HSA-382551	Transport of small molecules
R-HSA-9013420	RHOU GTPase cycle	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9013424	RHOV GTPase cycle	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9700645	ALK mutants bind TKIs	Leaf	R-HSA-1643685	Disease
R-HSA-9725370	Signaling by ALK fusions and activated point mutants	Internal node	R-HSA-1643685	Disease
R-HSA-9725371	Nuclear events stimulated by ALK signaling in cancer	Leaf	R-HSA-1643685	Disease

Subcellular location

Location	ECO term	Pubmed
Cytoplasm, cytoskeleton, spindle	ECO:0000269	PubMed:15858577
Cytoplasm, cytoskeleton, spindle	ECO:0000269	PubMed:16968737
Cytoplasm, cytoskeleton, spindle	ECO:0000269	PubMed:23918938
Cytoplasmic vesicle membrane	ECO:0000269	PubMed:17081065
Melanosome	ECO:0000269	PubMed:17081065
Membrane, coated pit	ECO:0000269	PubMed:17081065

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000194	Open mouth
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000338	Hypomimic face
HP:0000343	Long philtrum
HP:0000348	High forehead
HP:0000407	Sensorineural hearing impairment
HP:0000411	Protruding ear
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000582	Upslanted palpebral fissure
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000668	Hypodontia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000735	Impaired social interactions
HP:0000736	Short attention span
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001268	Mental deterioration
HP:0001273	Abnormal corpus callosum morphology
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001315	Reduced tendon reflexes
HP:0001332	Dystonia
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001344	Absent speech
HP:0001508	Failure to thrive
HP:0001558	Decreased fetal movement
HP:0002020	Gastroesophageal reflux
HP:0002059	Cerebral atrophy
HP:0002061	Lower limb spasticity
HP:0002063	Rigidity
HP:0002067	Bradykinesia
HP:0002133	Status epilepticus
HP:0002136	Broad-based gait
HP:0002188	Delayed CNS myelination
HP:0002312	Clumsiness
HP:0002317	Unsteady gait
HP:0002355	Difficulty walking
HP:0002375	Hypokinesia
HP:0002376	Developmental regression
HP:0002385	Paraparesis
HP:0002421	Poor head control
HP:0002509	Limb hypertonia
HP:0002521	Hypsarrhythmia
HP:0002540	Inability to walk
HP:0003593	Infantile onset
HP:0004305	Involuntary movements
HP:0004322	Short stature
HP:0005484	Secondary microcephaly
HP:0006879	Pontocerebellar atrophy
HP:0006956	Lateral ventricle dilatation
HP:0007018	Attention deficit hyperactivity disorder
HP:0007301	Oromotor apraxia
HP:0010844	EEG with multifocal slow activity
HP:0011443	Abnormality of coordination
HP:0011968	Feeding difficulties
HP:0012444	Brain atrophy
HP:0012447	Abnormal myelination
HP:0012448	Delayed myelination
HP:0012547	Abnormal involuntary eye movements
HP:0031843	Bradyphrenia
HP:0033725	Thin corpus callosum
HP:0100660	Dyskinesia
HP:0100710	Impulsivity

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	Medium	Approved
appendix	glandular cells	Medium	Approved
appendix	lymphoid tissue	Medium	Approved
bone marrow	hematopoietic cells	Medium	Approved
breast	glandular cells	Medium	Approved
breast	myoepithelial cells	Medium	Approved
bronchus	respiratory epithelial cells	Medium	Approved
caudate	neuronal cells	Medium	Approved
cerebellum	Purkinje cells	Medium	Approved
cerebellum	cells in granular layer	Medium	Approved
cerebellum	cells in molecular layer	Medium	Approved
cerebral cortex	endothelial cells	Low	Approved
cerebral cortex	glial cells	Medium	Approved
cerebral cortex	neuronal cells	Medium	Approved
cerebral cortex	neuropil	Medium	Approved
cervix	squamous epithelial cells	Medium	Approved
colon	endothelial cells	Medium	Approved
colon	glandular cells	Medium	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	Medium	Approved
endometrium 2	glandular cells	Medium	Approved
epididymis	glandular cells	Medium	Approved
esophagus	squamous epithelial cells	Medium	Approved
fallopian tube	glandular cells	Medium	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	Medium	Approved
liver	cholangiocytes	Medium	Approved
lung	alveolar cells	Medium	Approved
lung	macrophages	Medium	Approved
lymph node	germinal center cells	Medium	Approved
nasopharynx	respiratory epithelial cells	Medium	Approved
ovary	follicle cells	Medium	Approved
ovary	ovarian stroma cells	Low	Approved
pancreas	exocrine glandular cells	Medium	Approved
pancreas	pancreatic endocrine cells	Medium	Approved
parathyroid gland	glandular cells	High	Approved
placenta	decidual cells	Medium	Approved
placenta	trophoblastic cells	High	Approved
prostate	glandular cells	Medium	Approved
rectum	glandular cells	Medium	Approved
salivary gland	glandular cells	Medium	Approved
seminal vesicle	glandular cells	Medium	Approved
skin 1	Langerhans	Medium	Approved
skin 1	fibroblasts	Medium	Approved
skin 1	keratinocytes	Medium	Approved
skin 1	melanocytes	Low	Approved
skin 2	epidermal cells	Low	Approved
small intestine	glandular cells	Medium	Approved
soft tissue 1	chondrocytes	Low	Approved
soft tissue 1	fibroblasts	Medium	Approved
soft tissue 2	fibroblasts	High	Approved
spleen	cells in red pulp	Medium	Approved
spleen	cells in white pulp	Low	Approved
stomach 1	glandular cells	Medium	Approved
stomach 2	glandular cells	Medium	Approved
testis	Leydig cells	Medium	Approved
testis	cells in seminiferous ducts	Medium	Approved
thyroid gland	glandular cells	Medium	Approved
tonsil	germinal center cells	Medium	Approved
tonsil	non-germinal center cells	Low	Approved
tonsil	squamous epithelial cells	Medium	Approved
urinary bladder	urothelial cells	Medium	Approved
vagina	squamous epithelial cells	Medium	Approved

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
undetermined early-onset epileptic encephalopathy	MONDO:0018614	G40	chapter6, Diseases of the nervous system		Orphanet:442835
intellectual disability, autosomal dominant 56	MONDO:0030922	F70	chapter5, Mental and behavioural disorders	OMIM:617854	Orphanet:442835

Summary of Q00610

Gene: CLTC, CLH17, CLTCL2, KIAA0034
Protein: Clathrin heavy chain 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q00610

Gene: CLTC, CLH17, CLTCL2, KIAA0034 Protein: Clathrin heavy chain 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: CLTC, CLH17, CLTCL2, KIAA0034
Protein: Clathrin heavy chain 1