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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9054
Gene name Gene Name - the full gene name approved by the HGNC.	NFS1 cysteine desulfurase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NFS1
Synonyms (NCBI Gene) Gene synonyms aliases	COXPD52, HUSSY-08, IscS, NIFS
Disease Acronyms (UniProt) Disease acronyms from UniProt database	COXPD52
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20q11.22
Summary Summary of gene provided in NCBI Entrez Gene.	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(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16527810, 18650437, 26342079, 26702583, 27499296
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	16847322
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	26702583
GO:0005759	Component	Mitochondrial matrix	IDA	16847322
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA	16527810
GO:0005829	Component	Cytosol	TAS
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	IBA	21873635
GO:0018283	Process	Iron incorporation into metallo-sulfur cluster	IDA	16847322
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0031071	Function	Cysteine desulfurase activity	EXP	20873749
GO:0031071	Function	Cysteine desulfurase activity	IBA	21873635
GO:0031071	Function	Cysteine desulfurase activity	IDA	16527810
GO:0032324	Process	Molybdopterin cofactor biosynthetic process	TAS
GO:0042803	Function	Protein homodimerization activity	IDA	16527810
GO:0044281	Process	Small molecule metabolic process	TAS
GO:0044571	Process	[2Fe-2S] cluster assembly	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA

MIM	HGNC	e!Ensembl
603485	15910	ENSG00000244005

Protein

UniProt ID

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

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Combined Oxidative Phosphorylation Deficiency	combined oxidative phosphorylation deficiency 52	GenCC
Lactic Acidosis	severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	GenCC
Carcinoma	Carcinoma	GWAS

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining
Acidosis Lactic	Associate	35026043
Carcinoma Hepatocellular	Associate	39516467
Colorectal Neoplasms	Associate	35067161, 35221331
Fatigue	Associate	35026043
Friedreich Ataxia	Associate	21671584
Hypoxia	Inhibit	29596470
Mitochondrial Complex III Deficiency	Associate	35026043
Muscle Hypotonia	Associate	35026043
Neoplasms	Associate	35221331, 37053535
Signs and Symptoms Digestive	Associate	35026043

NFS1 (NFS1 cysteine desulfurase)