MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
6.1.1.21	Ligases; Forming carbon-oxygen bonds; Ligases forming aminoacyl-tRNA and related compounds; histidine—tRNA ligase

Structure

PDB	Resolution (Å)	PDB name
1X59		Solution structures of the WHEP-TRS domain of human histidyl-tRNA synthetase
2LW7		NMR solution structure of human HisRS splice variant
4G84	2.4	Crystal structure of human HisRS
4G85	3.11	Crystal structure of human HisRS
4PHC	2.844	Crystal Structure of a human cytosolic histidyl-tRNA synthetase, histidine-bound
4X5O	2.8	Human histidine tRNA synthetase
5W6M	3.696	Crystal structure of the human histidyl-tRNA synthetase mutant D175E
6O76	2.787	Human cytosolic Histidyl-tRNA synthetase (HisRS) with WHEP domain

GO term

GO ontology	GO term	GO description
Biological Process	GO:0006427	histidyl-tRNA aminoacylation
Biological Process	GO:0032543	mitochondrial translation
Biological Process	GO:0006418	tRNA aminoacylation for protein translation
Biological Process	GO:0006412	translation
Molecular Function	GO:0005524	ATP binding
Molecular Function	GO:0004821	histidine-tRNA ligase activity
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0042803	protein homodimerization activity
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005739	mitochondrion

InterPro	InterPro name
IPR000738	WHEP-TRS domain
IPR004154	Anticodon-binding
IPR004516	Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit
IPR006195	Aminoacyl-tRNA synthetase, class II
IPR009068	S15/NS1, RNA-binding
IPR015807	Histidine-tRNA ligase
IPR033656	Histidyl-anticodon-binding
IPR036621	Anticodon-binding domain superfamily
IPR041715	Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain
IPR045864	Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)

Pfam	Pfam name
PF00458	WHEP-TRS domain
PF03129	Anticodon binding domain
PF13393	Histidyl-tRNA synthetase

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-379716	Cytosolic tRNA aminoacylation	Leaf	R-HSA-392499	Metabolism of proteins

Location	ECO term	Pubmed
Cytoplasm	ECO:0000250

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000365	Hearing impairment
HP:0000375	Abnormal cochlea morphology
HP:0000407	Sensorineural hearing impairment
HP:0000483	Astigmatism
HP:0000505	Visual impairment
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000543	Optic disc pallor
HP:0000572	Visual loss
HP:0000575	Scotoma
HP:0000613	Photophobia
HP:0000662	Nyctalopia
HP:0000666	Horizontal nystagmus
HP:0000716	Depression
HP:0000738	Hallucinations
HP:0000739	Anxiety
HP:0001251	Ataxia
HP:0001288	Gait disturbance
HP:0001348	Brisk reflexes
HP:0001756	Vestibular hypofunction
HP:0001760	Abnormal foot morphology
HP:0001761	Pes cavus
HP:0001765	Hammertoe
HP:0002078	Truncal ataxia
HP:0002166	Impaired vibration sensation in the lower limbs
HP:0002194	Delayed gross motor development
HP:0002460	Distal muscle weakness
HP:0002936	Distal sensory impairment
HP:0003100	Slender long bone
HP:0003376	Steppage gait
HP:0003438	Absent Achilles reflex
HP:0003474	Somatic sensory dysfunction
HP:0003693	Distal amyotrophy
HP:0003828	Variable expressivity
HP:0006937	Impaired distal tactile sensation
HP:0007002	Motor axonal neuropathy
HP:0007083	Hyperactive patellar reflex
HP:0007108	Demyelinating peripheral neuropathy
HP:0007328	Impaired pain sensation
HP:0007730	Iris hypopigmentation
HP:0007843	Attenuation of retinal blood vessels
HP:0008499	High hypermetropia
HP:0008954	Intrinsic hand muscle atrophy
HP:0008959	Distal upper limb muscle weakness
HP:0009053	Distal lower limb muscle weakness
HP:0009830	Peripheral neuropathy
HP:0011463	Childhood onset
HP:0011504	Bull's eye maculopathy
HP:0012377	Hemianopia
HP:0012531	Pain
HP:0030051	Tip-toe gait
HP:0030237	Hand muscle weakness
HP:0100753	Schizophrenia

Tissue and cell type

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

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
usher syndrome type 3b	MONDO:0013788	H35	chapter7, Diseases of the eye and adnexa	OMIM:614504
autosomal dominant charcot-marie-tooth disease type 2w	MONDO:0014711	G60	chapter6, Diseases of the nervous system	OMIM:616625	Orphanet:488333

Summary of P12081

Gene: HARS1, HARS, HRS
Protein: Histidine--tRNA ligase, cytoplasmic

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P12081

Gene: HARS1, HARS, HRS Protein: Histidine--tRNA ligase, cytoplasmic

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: HARS1, HARS, HRS
Protein: Histidine--tRNA ligase, cytoplasmic