MultifacetedProtDB - Bologna Biocomputing Group

Structure

PDB	Resolution (Å)	PDB name
2KLR		Solid-state NMR structure of the alpha-crystallin domain in alphaB-crystallin oligomers
2N0K		Chemical shift assignments and structure of the alpha-crystallin domain from human, HSPB5
2WJ7	2.631	human alphaB crystallin
2Y1Y	2.0	Human alphaB crystallin ACD(residues 71-157)
2Y1Z	2.5	Human alphaB Crystallin ACD R120G
2Y22	3.7	Human AlphaB-crystallin Domain (residues 67-157)
2YGD	9.4	Molecular architectures of the 24meric eye lens chaperone alphaB- crystallin elucidated by a triple hybrid approach
3J07	20.0	Model of a 24mer alphaB-crystallin multimer
3L1G	3.32	Human AlphaB crystallin
3SGM	1.7006	Bromoderivative-2 of amyloid-related segment of alphaB-crystallin residues 90-100
3SGN	2.807	Bromoderivative-8 of amyloid-related segment of alphaB-crystallin residues 90-100
3SGO	2.557	Amyloid-related segment of alphaB-crystallin residues 90-100
3SGP	1.4016	Amyloid-related segment of alphaB-crystallin residues 90-100 mutant V91L
3SGR	2.17	Tandem repeat of amyloid-related segment of alphaB-crystallin residues 90-100 mutant V91L
3SGS	1.703	Amyloid-related segment of alphaB-crystallin residues 95-100
4M5S	1.37	Human alphaB crystallin core domain in complex with C-terminal peptide
4M5T	2.0	Disulfide trapped human alphaB crystallin core domain in complex with C-terminal peptide
5VVV	2.8	Structural Investigations of the Substrate Specificity of Human O-GlcNAcase
6BP9		HSPB5 alpha-crystallin domain mutant R120G-ACD
7ROJ	1.6	Amyloid-related segment of alphaB-crystallin residues 90-100 with G95W mutation

GO term

GO ontology	GO term	GO description
Biological Process	GO:0060561	apoptotic process involved in morphogenesis
Biological Process	GO:0071480	cellular response to gamma radiation
Biological Process	GO:0002088	lens development in camera-type eye
Biological Process	GO:0031109	microtubule polymerization or depolymerization
Biological Process	GO:0010259	multicellular organism aging
Biological Process	GO:0006936	muscle contraction
Biological Process	GO:0007517	muscle organ development
Biological Process	GO:0045892	negative regulation of DNA-templated transcription
Biological Process	GO:1905907	negative regulation of amyloid fibril formation
Biological Process	GO:0043066	negative regulation of apoptotic process
Biological Process	GO:0030308	negative regulation of cell growth
Biological Process	GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
Biological Process	GO:0010629	negative regulation of gene expression
Biological Process	GO:0032387	negative regulation of intracellular transport
Biological Process	GO:0031333	negative regulation of protein-containing complex assembly
Biological Process	GO:2000378	negative regulation of reactive oxygen species metabolic process
Biological Process	GO:0006457	protein folding
Biological Process	GO:0050821	protein stabilization
Biological Process	GO:0043067	regulation of programmed cell death
Biological Process	GO:0032355	response to estradiol
Biological Process	GO:0042542	response to hydrogen peroxide
Biological Process	GO:0001666	response to hypoxia
Biological Process	GO:0051403	stress-activated MAPK cascade
Biological Process	GO:0007021	tubulin complex assembly
Molecular Function	GO:0001540	amyloid-beta binding
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0046872	metal ion binding
Molecular Function	GO:0008017	microtubule binding
Molecular Function	GO:0042803	protein homodimerization activity
Molecular Function	GO:0044877	protein-containing complex binding
Molecular Function	GO:0005212	structural constituent of eye lens
Molecular Function	GO:0005198	structural molecule activity
Molecular Function	GO:0051082	unfolded protein binding
Cellular Component	GO:0005794	Golgi apparatus
Cellular Component	GO:0031430	M band
Cellular Component	GO:0030018	Z disc
Cellular Component	GO:0032432	actin filament bundle
Cellular Component	GO:0030424	axon
Cellular Component	GO:0097512	cardiac myofibril
Cellular Component	GO:0009986	cell surface
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0043197	dendritic spine
Cellular Component	GO:0070062	extracellular exosome
Cellular Component	GO:0005764	lysosome
Cellular Component	GO:0015630	microtubule cytoskeleton
Cellular Component	GO:0005739	mitochondrion
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0043204	perikaryon
Cellular Component	GO:0014069	postsynaptic density
Cellular Component	GO:0032991	protein-containing complex
Cellular Component	GO:0097060	synaptic membrane

InterPro / Pfam

InterPro	InterPro name
IPR001436	Alpha crystallin/Small heat shock protein, animal type
IPR002068	Alpha crystallin/Hsp20 domain
IPR003090	Alpha-crystallin, N-terminal
IPR008978	HSP20-like chaperone
IPR037882	Alpha-crystallin B chain, ACD domain

Pfam	Pfam name
PF00011	Hsp20/alpha crystallin family
PF00525	Alpha crystallin A chain, N terminal

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-3371571	HSF1-dependent transactivation	Internal node	R-HSA-8953897	Cellular responses to stimuli

Subcellular location

Location	ECO term	Pubmed
Cytoplasm	ECO:0000269	PubMed:19464326
Cytoplasm	ECO:0000269	PubMed:28493373
Lysosome	ECO:0000250
Nucleus	ECO:0000269	PubMed:19464326
Secreted	ECO:0000269	PubMed:32272059

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000467	Neck muscle weakness
HP:0000518	Cataract
HP:0000519	Developmental cataract
HP:0000556	Retinal dystrophy
HP:0000982	Palmoplantar keratoderma
HP:0001115	Posterior polar cataract
HP:0001142	Lenticonus
HP:0001265	Hyporeflexia
HP:0001276	Hypertonia
HP:0001349	Facial diplegia
HP:0001522	Death in infancy
HP:0001612	Weak cry
HP:0001618	Dysphonia
HP:0001638	Cardiomyopathy
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001653	Mitral regurgitation
HP:0001874	Abnormality of neutrophils
HP:0002015	Dysphagia
HP:0002063	Rigidity
HP:0002093	Respiratory insufficiency
HP:0002104	Apnea
HP:0002355	Difficulty walking
HP:0002380	Fasciculations
HP:0002460	Distal muscle weakness
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0002878	Respiratory failure
HP:0003198	Myopathy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003325	Limb-girdle muscle weakness
HP:0003327	Axial muscle weakness
HP:0003438	Absent Achilles reflex
HP:0003457	EMG abnormality
HP:0003458	EMG: myopathic abnormalities
HP:0003493	Antinuclear antibody positivity
HP:0003547	Shoulder girdle muscle weakness
HP:0003552	Muscle stiffness
HP:0003555	Muscle fiber splitting
HP:0003557	Increased variability in muscle fiber diameter
HP:0003560	Muscular dystrophy
HP:0003577	Congenital onset
HP:0003581	Adult onset
HP:0003593	Infantile onset
HP:0003596	Middle age onset
HP:0003623	Neonatal onset
HP:0003677	Slowly progressive
HP:0003678	Rapidly progressive
HP:0003694	Late-onset proximal muscle weakness
HP:0003731	Quadriceps muscle weakness
HP:0003736	Autophagic vacuoles
HP:0003749	Pelvic girdle muscle weakness
HP:0004756	Ventricular tachycardia
HP:0007340	Lower limb muscle weakness
HP:0008969	Leg muscle stiffness
HP:0009027	Foot dorsiflexor weakness
HP:0009063	Progressive distal muscle weakness
HP:0009072	Decreased Achilles reflex
HP:0009073	Progressive proximal muscle weakness
HP:0011003	High myopia
HP:0012665	Moderately reduced left ventricular ejection fraction
HP:0012764	Orthopnea
HP:0025717	Skeletal muscle autophagosome accumulation
HP:0030207	Paradoxical respiration
HP:0030225	Accumulation of muscle fiber desmin
HP:0033755	Increased left ventricular end-diastolic volume
HP:0040081	Abnormal circulating creatine kinase concentration
HP:0100020	Posterior capsular cataract
HP:0100299	Muscle fiber inclusion bodies
HP:0100324	Scleroderma
HP:0100578	Lipoatrophy

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Medium	Enhanced
caudate	glial cells	High	Enhanced
cerebellum	Bergmann glia - cytoplasm/membrane	High	Enhanced
cerebellum	granular cells - cytoplasm/membrane	High	Enhanced
cerebellum	granular cells - nucleus	High	Enhanced
cerebellum	processes in granular layer	Medium	Enhanced
cerebellum	processes in molecular layer	Medium	Enhanced
cerebellum	processes in white matter	Medium	Enhanced
cerebellum	white matter cells - cytoplasm/membrane	High	Enhanced
cerebellum	white matter cells - nucleus	High	Enhanced
cerebral cortex	glial cells	High	Enhanced
cerebral cortex	neuropil	Medium	Enhanced
epididymis	glandular cells	High	Enhanced
eye	lens fiber cells	High	Enhanced
heart muscle	cardiomyocytes	High	Enhanced
hippocampus	glial cells	High	Enhanced
kidney	bowman's capsule	High	Enhanced
kidney	distal tubules	Low	Enhanced
kidney	proximal tubules (cell body)	High	Enhanced
placenta	decidual cells	Medium	Enhanced
placenta	trophoblastic cells	Medium	Enhanced
salivary gland	glandular cells	Medium	Enhanced
seminal vesicle	glandular cells	Medium	Enhanced
skeletal muscle	myocytes	High	Enhanced
thyroid gland	glandular cells	High	Enhanced

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
cardiomyopathy, familial restrictive, 1	MONDO:0007270	I42	chapter9, Diseases of the circulatory system	OMIM:115210
myofibrillar myopathy 2	MONDO:0012130	G71	chapter6, Diseases of the nervous system	OMIM:608810	Orphanet:399058
fatal infantile hypertonic myofibrillar myopathy	MONDO:0013472	G71	chapter6, Diseases of the nervous system	OMIM:613869	Orphanet:280553
dilated cardiomyopathy 1ii	MONDO:0014073	I42	chapter9, Diseases of the circulatory system	OMIM:615184
early-onset lamellar cataract	MONDO:0018611	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:441452
early-onset nuclear cataract	MONDO:0020376	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98991
early-onset posterior polar cataract	MONDO:0020378	Q12	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:98993

Summary of P02511

Gene: CRYAB, CRYA2, HSPB5
Protein: Alpha-crystallin B chain

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P02511

Gene: CRYAB, CRYA2, HSPB5 Protein: Alpha-crystallin B chain

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: CRYAB, CRYA2, HSPB5
Protein: Alpha-crystallin B chain