Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9054
Gene name	NFS1 cysteine desulfurase
Gene symbol	NFS1
Synonyms (NCBI Gene)	COXPD52HUSSY-08IscSNIFS
Chromosome	20
Chromosome location	20q11.22
Summary	Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-fra

Show/Hide all (92)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046759	hsa-miR-222-3p	CLASH	23622248
MIRT1183595	hsa-miR-1184	CLIP-seq
MIRT1183596	hsa-miR-1205	CLIP-seq
MIRT1183597	hsa-miR-3120-5p	CLIP-seq
MIRT1183598	hsa-miR-3158-5p	CLIP-seq
MIRT1183599	hsa-miR-346	CLIP-seq
MIRT1183600	hsa-miR-4288	CLIP-seq
MIRT1183601	hsa-miR-4517	CLIP-seq
MIRT1183602	hsa-miR-622	CLIP-seq
MIRT1183603	hsa-miR-632	CLIP-seq
MIRT2053228	hsa-miR-15a	CLIP-seq
MIRT2053229	hsa-miR-15b	CLIP-seq
MIRT2053230	hsa-miR-16	CLIP-seq
MIRT2053231	hsa-miR-195	CLIP-seq
MIRT2053232	hsa-miR-3614-3p	CLIP-seq
MIRT2053233	hsa-miR-424	CLIP-seq
MIRT2053234	hsa-miR-497	CLIP-seq
MIRT2282533	hsa-miR-105	CLIP-seq
MIRT1183595	hsa-miR-1184	CLIP-seq
MIRT1183596	hsa-miR-1205	CLIP-seq
MIRT2282534	hsa-miR-1289	CLIP-seq
MIRT2053228	hsa-miR-15a	CLIP-seq
MIRT2053229	hsa-miR-15b	CLIP-seq
MIRT2053230	hsa-miR-16	CLIP-seq
MIRT2282535	hsa-miR-1827	CLIP-seq
MIRT2282536	hsa-miR-186	CLIP-seq
MIRT2053231	hsa-miR-195	CLIP-seq
MIRT2282537	hsa-miR-298	CLIP-seq
MIRT1183597	hsa-miR-3120-5p	CLIP-seq
MIRT2282538	hsa-miR-3133	CLIP-seq
MIRT1183598	hsa-miR-3158-5p	CLIP-seq
MIRT2282539	hsa-miR-3165	CLIP-seq
MIRT2282540	hsa-miR-3184	CLIP-seq
MIRT2282541	hsa-miR-3198	CLIP-seq
MIRT2282542	hsa-miR-320e	CLIP-seq
MIRT1183599	hsa-miR-346	CLIP-seq
MIRT2282543	hsa-miR-423-5p	CLIP-seq
MIRT2053233	hsa-miR-424	CLIP-seq
MIRT1183600	hsa-miR-4288	CLIP-seq
MIRT2282544	hsa-miR-4294	CLIP-seq
MIRT2282545	hsa-miR-4309	CLIP-seq
MIRT2282546	hsa-miR-4432	CLIP-seq
MIRT2282547	hsa-miR-4456	CLIP-seq
MIRT2282548	hsa-miR-4459	CLIP-seq
MIRT1183601	hsa-miR-4517	CLIP-seq
MIRT2282549	hsa-miR-4640-5p	CLIP-seq
MIRT2282550	hsa-miR-4709-3p	CLIP-seq
MIRT2282551	hsa-miR-4722-5p	CLIP-seq
MIRT2282552	hsa-miR-4726-5p	CLIP-seq
MIRT2282553	hsa-miR-4779	CLIP-seq
MIRT2053234	hsa-miR-497	CLIP-seq
MIRT1183602	hsa-miR-622	CLIP-seq
MIRT1183603	hsa-miR-632	CLIP-seq
MIRT2282554	hsa-miR-888	CLIP-seq
MIRT2282555	hsa-miR-922	CLIP-seq
MIRT2282556	hsa-miR-940	CLIP-seq
MIRT2438988	hsa-miR-136	CLIP-seq
MIRT2438989	hsa-miR-885-5p	CLIP-seq
MIRT1183595	hsa-miR-1184	CLIP-seq
MIRT1183596	hsa-miR-1205	CLIP-seq
MIRT2438988	hsa-miR-136	CLIP-seq
MIRT1183597	hsa-miR-3120-5p	CLIP-seq
MIRT2580527	hsa-miR-3132	CLIP-seq
MIRT1183598	hsa-miR-3158-5p	CLIP-seq
MIRT1183599	hsa-miR-346	CLIP-seq
MIRT1183600	hsa-miR-4288	CLIP-seq
MIRT2580528	hsa-miR-4428	CLIP-seq
MIRT2580529	hsa-miR-4650-3p	CLIP-seq
MIRT2580530	hsa-miR-4687-5p	CLIP-seq
MIRT2580531	hsa-miR-4738-3p	CLIP-seq
MIRT2580532	hsa-miR-548g	CLIP-seq
MIRT2580533	hsa-miR-583	CLIP-seq
MIRT1183602	hsa-miR-622	CLIP-seq
MIRT1183603	hsa-miR-632	CLIP-seq
MIRT2438989	hsa-miR-885-5p	CLIP-seq
MIRT1183595	hsa-miR-1184	CLIP-seq
MIRT1183596	hsa-miR-1205	CLIP-seq
MIRT2438988	hsa-miR-136	CLIP-seq
MIRT1183597	hsa-miR-3120-5p	CLIP-seq
MIRT2580527	hsa-miR-3132	CLIP-seq
MIRT1183598	hsa-miR-3158-5p	CLIP-seq
MIRT1183599	hsa-miR-346	CLIP-seq
MIRT1183600	hsa-miR-4288	CLIP-seq
MIRT2580528	hsa-miR-4428	CLIP-seq
MIRT2580529	hsa-miR-4650-3p	CLIP-seq
MIRT2580530	hsa-miR-4687-5p	CLIP-seq
MIRT2580531	hsa-miR-4738-3p	CLIP-seq
MIRT2580532	hsa-miR-548g	CLIP-seq
MIRT2580533	hsa-miR-583	CLIP-seq
MIRT1183602	hsa-miR-622	CLIP-seq
MIRT1183603	hsa-miR-632	CLIP-seq
MIRT2438989	hsa-miR-885-5p	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11060020, 16527810, 18650437, 23593335, 23940031, 26342079, 26702583, 27499296, 28001042, 29097656, 29309586, 31101807, 31664822, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16847322, 23593335
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9885568
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	23593335, 26702583, 30817134
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	27519411
GO:0005739	Component	Mitochondrion	TAS	9885568
GO:0005759	Component	Mitochondrial matrix	IDA	16847322
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005813	Component	Centrosome	IDA	30817134
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	16527810, 23593335, 30817134
GO:0005829	Component	Cytosol	TAS	9885568
GO:0005856	Component	Cytoskeleton	IEA
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IDA	18650437
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	IBA
GO:0016226	Process	Iron-sulfur cluster assembly	IDA	16847322
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	NAS	29097656
GO:0016226	Process	Iron-sulfur cluster assembly	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0031071	Function	Cysteine desulfurase activity	EXP	20873749
GO:0031071	Function	Cysteine desulfurase activity	IBA
GO:0031071	Function	Cysteine desulfurase activity	IDA	16527810, 18650437, 23593335, 28634302, 29097656, 31101807, 31664822, 38627381
GO:0031071	Function	Cysteine desulfurase activity	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	16527810, 29097656, 34824239
GO:0044571	Process	[2Fe-2S] cluster assembly	IDA	24971490, 31664822, 38627381
GO:0044571	Process	[2Fe-2S] cluster assembly	IEA
GO:0044572	Process	[4Fe-4S] cluster assembly	IDA	16527810
GO:0044572	Process	[4Fe-4S] cluster assembly	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0097163	Function	Sulfur carrier activity	IDA	38627381
GO:0099128	Component	Mitochondrial [2Fe-2S] assembly complex	IDA	21298097, 31101807
GO:0099128	Component	Mitochondrial [2Fe-2S] assembly complex	IEA
GO:1990229	Component	Iron-sulfur cluster assembly complex	NAS	29097656

MIM	HGNC	e!Ensembl
603485	15910	ENSG00000244005

Q9Y697

Protein name

Cysteine desulfurase (EC 2.8.1.7)

Protein function

[Isoform Mitochondrial]: Cysteine desulfurase, of the core iron-sulfur cluster (ISC) assembly complex, that catalyzes the desulfuration of L-cysteine to L-alanine, as component of the cysteine desulfurase complex, leading to the formation of a c

PDB

5KZ5 , 5USR , 5WGB , 5WKP , 5WLW , 6NZU , 6UXE , 6W1D , 6WI2 , 6WIH , 7RTK , 8PK8 , 8PK9 , 8PKA , 8RMC , 8RMD , 8RME , 8RMF , 8RMG , 8TVT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00266	Aminotran_5	59 → 422	Aminotransferase class-V	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in heart and skeletal muscle. Also found in brain, liver and pancreas. {ECO:0000269|PubMed:9885568}.

Sequence

MLLRAAWRRAAVAVTAAPGPKPAAPTRGLRLRVGDRAPQSAVPADTAAAPEVGPVLRPLY
MDVQATTPLDPRVLDAMLPYLINYYGNPHSRTHAYGWESEAAMERARQQVASLIGADPRE
IIFTSGATESNNIAIKGVARFYRSRKKHLITTQTEHKCVLDSCRSLEAEGFQVTYLPVQK
SGIIDLKELEAAIQPDTSLVSVMTVNNEIGVKQPIAEIGRICSSRKVYFHTDAAQAVGKI
PLDVNDMKIDLMSISGHKIYGPKGVGAIYIRRRPRVRVEALQSGGGQERGMRSGTVPTPL
VVGLGAACEVAQQEMEYDHKRISKLSERLIQNIMKSLPDVVMNGDPKHHYPGCINLSFAY
VEGESLLMALKDVALSSGSACTSASLEPSYVLRAIGTDEDLAHSSIRFGIGRFTTEEEVD
YTVEKCIQHVKRLREMSPLWEMVQDGIDLKSIKWTQH

Sequence length

457

Interactions

View interactions

	KEGG		Reactome
	Thiamine metabolism Metabolic pathways Biosynthesis of cofactors Sulfur relay system		Mitochondrial iron-sulfur cluster biogenesis Molybdenum cofactor biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined oxidative phosphorylation deficiency 52	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NFS1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	35026043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	30031876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29168506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29168506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39516467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35067161, 35221331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29596470	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29168506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex III Deficiency	Mitochondrial complex deficiency	Pubtator	35026043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	Lactic Acidosis	ORPHANET_DG	24498631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	Lactic Acidosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only

NFS1 (NFS1 cysteine desulfurase)