MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.8.1.7	Transferases; Transferring sulfur-containing groups; Sulfurtransferases; cysteine desulfurase

Structure

PDB	Resolution (Å)	PDB name
5KZ5	14.3	Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery: the Complex Formed by the Iron Donor, the Sulfur Donor, and the Scaffold
5USR	3.09	Crystal structure of human NFS1-ISD11 in complex with E. coli acyl-carrier protein at 3.09 angstroms
5WGB	2.75	Crystal Structure of the Human mitochondrial Cysteine Desulfurase in complex with ISD11 and E. coli ACP1 protein at 2.75A
5WKP	3.15	Crystal Structure of the Human mitochondrial Cysteine Desulfurase in complex with ISD11 and Iron-Sulfur Cluster Scaffold Protein ISCU1, and E. coli ACP1 protein at 3.15A
5WLW	3.317	Crystal Structure of the Human Mitochondrial Cysteine Desulfurase with active Cysteine Loop within ISCU1 active site, coordinating Zn ion. Complexed with human ISD11 and E. coli ACP1 at 3.3A.
6NZU	3.2	Structure of the human frataxin-bound iron-sulfur cluster assembly complex
6UXE	1.57	Structure of the human mitochondrial desulfurase complex Nfs1-ISCU2(M140I)-ISD11 with E.coli ACP1 at 1.57 A resolution showing flexibility of N terminal end of ISCU2
6W1D	1.795	Structure of human mitochondrial complex Nfs1-ISCU2 (WT)-ISD11 with E.coli ACP1 at 1.8 A resolution (NIAU)2
6WI2	1.95	Structure of human mitochondrial complex Nfs1-ISCU2-ISD11 with E.coli ACP1 at 1.95 A resolution (NIAU)2. N-terminal mutation of ISCU2 (L35) traps Nfs1 Cys loop in the active site of ISCU2 without metal present.
6WIH	1.9	N-terminal mutation of ISCU2 (L35H36) traps Nfs1 Cys loop in the active site of ISCU2 without metal present. Structure of human mitochondrial complex Nfs1-ISCU2(L35H36)-ISD11 with E.coli ACP1 at 1.9 A resolution (NIAU)2.
7RTK	2.5	Structure of the (NIAU)2 complex with N-terminal mutation of ISCU2 Y35D at 2.5 A resolution

GO term

GO ontology	GO term	GO description
Biological Process	GO:0044571	2Fe-2S cluster assembly
Biological Process	GO:0044572	4Fe-4S cluster assembly
Biological Process	GO:0006777	Mo-molybdopterin cofactor biosynthetic process
Biological Process	GO:0018283	iron incorporation into metallo-sulfur cluster
Biological Process	GO:0016226	iron-sulfur cluster assembly
Biological Process	GO:0043545	molybdopterin cofactor metabolic process
Molecular Function	GO:0031071	cysteine desulfurase activity
Molecular Function	GO:0051536	iron-sulfur cluster binding
Molecular Function	GO:0046872	metal ion binding
Molecular Function	GO:0042803	protein homodimerization activity
Molecular Function	GO:0030170	pyridoxal phosphate binding
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:1990229	iron-sulfur cluster assembly complex
Cellular Component	GO:0099128	mitochondrial iron-sulfur cluster assembly complex
Cellular Component	GO:0005759	mitochondrial matrix
Cellular Component	GO:0005739	mitochondrion
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus

InterPro / Pfam

InterPro	InterPro name
IPR000192	Aminotransferase class V domain
IPR010240	Cysteine desulfurase IscS
IPR015421	Pyridoxal phosphate-dependent transferase, major domain
IPR015422	Pyridoxal phosphate-dependent transferase, small domain
IPR015424	Pyridoxal phosphate-dependent transferase
IPR016454	Cysteine desulfurase
IPR020578	Aminotransferase class-V, pyridoxal-phosphate binding site

Pfam	Pfam name
PF00266	Aminotransferase class-V

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-1362409	Mitochondrial iron-sulfur cluster biogenesis	Internal node	R-HSA-1430728	Metabolism
R-HSA-947581	Molybdenum cofactor biosynthesis	Leaf	R-HSA-1430728	Metabolism

Subcellular location

Location	ECO term	Pubmed
Cytoplasm	ECO:0000269	PubMed:9885568
Mitochondrion	ECO:0000269	PubMed:19454487
Mitochondrion	ECO:0000269	PubMed:26702583
Mitochondrion	ECO:0000269	PubMed:9885568
Nucleus	ECO:0000269	PubMed:19454487
Nucleus	ECO:0000269	PubMed:9885568

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000083	Renal insufficiency
HP:0000846	Adrenal insufficiency
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001397	Hepatic steatosis
HP:0001522	Death in infancy
HP:0001639	Hypertrophic cardiomyopathy
HP:0001733	Pancreatitis
HP:0001942	Metabolic acidosis
HP:0001943	Hypoglycemia
HP:0002039	Anorexia
HP:0002151	Increased serum lactate
HP:0002154	Hyperglycinemia
HP:0002878	Respiratory failure
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003348	Hyperalaninemia
HP:0003355	Aminoaciduria
HP:0003648	Lacticaciduria
HP:0005521	Disseminated intravascular coagulation
HP:0008314	Decreased activity of mitochondrial complex II
HP:0011924	Decreased activity of mitochondrial complex III
HP:0031956	Elevated circulating aspartate aminotransferase concentration
HP:0031964	Elevated circulating alanine aminotransferase concentration
HP:0410288	Hyperamylasemia

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Medium	Enhanced
adrenal gland	glandular cells	High	Enhanced
appendix	glandular cells	High	Enhanced
appendix	lymphoid tissue	Medium	Enhanced
bone marrow	hematopoietic cells	Low	Enhanced
breast	glandular cells	Medium	Enhanced
breast	myoepithelial cells	Medium	Enhanced
bronchus	respiratory epithelial cells	High	Enhanced
caudate	glial cells	Low	Enhanced
caudate	neuronal cells	Medium	Enhanced
cerebellum	GLUC cells - cytoplasm/membrane	High	Enhanced
cerebellum	Purkinje cells - cytoplasm/membrane	High	Enhanced
cerebellum	Purkinje cells - dendrites	High	Enhanced
cerebellum	granular cells - cytoplasm/membrane	Low	Enhanced
cerebellum	molecular layer cells - cytoplasm/membrane	High	Enhanced
cerebellum	synaptic glomeruli - core	High	Enhanced
cerebellum	white matter cells - cytoplasm/membrane	Medium	Enhanced
cerebral cortex	endothelial cells	Medium	Enhanced
cerebral cortex	glial cells	Medium	Enhanced
cerebral cortex	neuronal cells	High	Enhanced
cerebral cortex	neuropil	Medium	Enhanced
cervix	glandular cells	Medium	Enhanced
cervix	squamous epithelial cells	Medium	Enhanced
colon	endothelial cells	Medium	Enhanced
colon	glandular cells	Medium	Enhanced
colon	peripheral nerve/ganglion	High	Enhanced
duodenum	glandular cells	High	Enhanced
endometrium 1	cells in endometrial stroma	Medium	Enhanced
endometrium 1	glandular cells	Medium	Enhanced
endometrium 2	cells in endometrial stroma	Medium	Enhanced
endometrium 2	glandular cells	Medium	Enhanced
epididymis	glandular cells	Medium	Enhanced
esophagus	squamous epithelial cells	High	Enhanced
fallopian tube	glandular cells	Medium	Enhanced
gallbladder	glandular cells	High	Enhanced
heart muscle	cardiomyocytes	Medium	Enhanced
hippocampus	glial cells	Low	Enhanced
hippocampus	neuronal cells	High	Enhanced
kidney	cells in glomeruli	Medium	Enhanced
kidney	cells in tubules	High	Enhanced
liver	hepatocytes	Medium	Enhanced
lung	alveolar cells type I	Medium	Enhanced
lung	alveolar cells type II	High	Enhanced
lung	macrophages	High	Enhanced
lymph node	germinal center cells	Low	Enhanced
lymph node	non-germinal center cells	Low	Enhanced
nasopharynx	respiratory epithelial cells	High	Enhanced
oral mucosa	squamous epithelial cells	Medium	Enhanced
ovary	follicle cells	High	Enhanced
ovary	ovarian stroma cells	Medium	Enhanced
pancreas	exocrine glandular cells	Medium	Enhanced
pancreas	pancreatic endocrine cells	Medium	Enhanced
parathyroid gland	glandular cells	Medium	Enhanced
placenta	decidual cells	Medium	Enhanced
placenta	trophoblastic cells	Medium	Enhanced
prostate	glandular cells	Medium	Enhanced
rectum	glandular cells	High	Enhanced
salivary gland	glandular cells	Medium	Enhanced
seminal vesicle	glandular cells	Medium	Enhanced
skeletal muscle	myocytes	Medium	Enhanced
skin 1	fibroblasts	Medium	Enhanced
skin 1	keratinocytes	Medium	Enhanced
skin 1	melanocytes	High	Enhanced
skin 2	epidermal cells	Medium	Enhanced
small intestine	glandular cells	High	Enhanced
smooth muscle	smooth muscle cells	Medium	Enhanced
soft tissue 1	chondrocytes	Medium	Enhanced
soft tissue 1	fibroblasts	Medium	Enhanced
soft tissue 2	peripheral nerve	Low	Enhanced
spleen	cells in red pulp	Low	Enhanced
spleen	cells in white pulp	Medium	Enhanced
stomach 1	glandular cells	Medium	Enhanced
stomach 2	glandular cells	Medium	Enhanced
testis	Leydig cells	High	Enhanced
testis	pachytene spermatocytes	High	Enhanced
testis	preleptotene spermatocytes	High	Enhanced
testis	round or early spermatids	Low	Enhanced
testis	sertoli cells	Medium	Enhanced
thyroid gland	glandular cells	High	Enhanced
tonsil	germinal center cells	Medium	Enhanced
tonsil	non-germinal center cells	Medium	Enhanced
tonsil	squamous epithelial cells	Low	Enhanced
urinary bladder	urothelial cells	Medium	Enhanced
vagina	squamous epithelial cells	Medium	Enhanced

Summary of Q9Y697

Gene: NFS1, NIFS, HUSSY-08
Protein: Cysteine desulfurase

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q9Y697

Gene: NFS1, NIFS, HUSSY-08 Protein: Cysteine desulfurase

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: NFS1, NIFS, HUSSY-08
Protein: Cysteine desulfurase