CISD1 (CDGSH iron sulfur domain 1)

Gene

• Entrez ID: 55847
• Gene name: CDGSH iron sulfur domain 1
• Gene symbol: CISD1
• Synonyms (NCBI Gene): C10orf70, MDS029, ZCD1, mitoNEET
• Chromosome: 10
• Chromosome location: 10q21.1
• Summary: This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation.

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049786	hsa-miR-92a-3p	CLASH	23622248
MIRT045882	hsa-miR-128-3p	CLASH	23622248
MIRT040663	hsa-miR-92b-3p	CLASH	23622248
MIRT624343	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT624342	hsa-miR-662	HITS-CLIP	23824327
MIRT624341	hsa-miR-3148	HITS-CLIP	23824327
MIRT624340	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT624339	hsa-miR-3153	HITS-CLIP	23824327
MIRT624338	hsa-miR-6733-5p	HITS-CLIP	23824327
MIRT624337	hsa-miR-6739-5p	HITS-CLIP	23824327
MIRT624336	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT624335	hsa-miR-1260a	HITS-CLIP	23824327
MIRT624334	hsa-miR-1260b	HITS-CLIP	23824327
MIRT624333	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT498352	hsa-miR-3927-3p	PAR-CLIP	22291592
MIRT498351	hsa-miR-6831-5p	PAR-CLIP	22291592
MIRT498350	hsa-miR-3651	PAR-CLIP	22291592
MIRT498349	hsa-miR-3529-5p	PAR-CLIP	22291592
MIRT498348	hsa-miR-379-5p	PAR-CLIP	22291592
MIRT498347	hsa-miR-4662a-5p	PAR-CLIP	22291592
MIRT624343	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT624342	hsa-miR-662	HITS-CLIP	23824327
MIRT624341	hsa-miR-3148	HITS-CLIP	23824327
MIRT624340	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT624339	hsa-miR-3153	HITS-CLIP	23824327
MIRT624338	hsa-miR-6733-5p	HITS-CLIP	23824327
MIRT624337	hsa-miR-6739-5p	HITS-CLIP	23824327
MIRT624336	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT624335	hsa-miR-1260a	HITS-CLIP	23824327
MIRT624334	hsa-miR-1260b	HITS-CLIP	23824327
MIRT624333	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT498352	hsa-miR-3927-3p	PAR-CLIP	22291592
MIRT498351	hsa-miR-6831-5p	PAR-CLIP	22291592
MIRT498350	hsa-miR-3651	PAR-CLIP	22291592
MIRT498349	hsa-miR-3529-5p	PAR-CLIP	22291592
MIRT498348	hsa-miR-379-5p	PAR-CLIP	22291592
MIRT498347	hsa-miR-4662a-5p	PAR-CLIP	22291592
MIRT893596	hsa-miR-105	CLIP-seq
MIRT893597	hsa-miR-1245	CLIP-seq
MIRT893598	hsa-miR-1297	CLIP-seq
MIRT893599	hsa-miR-1305	CLIP-seq
MIRT893600	hsa-miR-1324	CLIP-seq
MIRT893601	hsa-miR-140-3p	CLIP-seq
MIRT893602	hsa-miR-186	CLIP-seq
MIRT893603	hsa-miR-223	CLIP-seq
MIRT893604	hsa-miR-26a	CLIP-seq
MIRT893605	hsa-miR-26b	CLIP-seq
MIRT893606	hsa-miR-299-3p	CLIP-seq
MIRT893607	hsa-miR-302a	CLIP-seq
MIRT893608	hsa-miR-302b	CLIP-seq
MIRT893609	hsa-miR-302c	CLIP-seq
MIRT893610	hsa-miR-302d	CLIP-seq
MIRT893611	hsa-miR-302e	CLIP-seq
MIRT893612	hsa-miR-3065-5p	CLIP-seq
MIRT893613	hsa-miR-3133	CLIP-seq
MIRT893614	hsa-miR-3189-3p	CLIP-seq
MIRT893615	hsa-miR-320a	CLIP-seq
MIRT893616	hsa-miR-320b	CLIP-seq
MIRT893617	hsa-miR-320c	CLIP-seq
MIRT893618	hsa-miR-320d	CLIP-seq
MIRT893619	hsa-miR-3606	CLIP-seq
MIRT893620	hsa-miR-372	CLIP-seq
MIRT893621	hsa-miR-373	CLIP-seq
MIRT893622	hsa-miR-421	CLIP-seq
MIRT893623	hsa-miR-4277	CLIP-seq
MIRT893624	hsa-miR-4429	CLIP-seq
MIRT893625	hsa-miR-4465	CLIP-seq
MIRT893626	hsa-miR-4474-3p	CLIP-seq
MIRT893627	hsa-miR-4491	CLIP-seq
MIRT893628	hsa-miR-450b-5p	CLIP-seq
MIRT893629	hsa-miR-4640-5p	CLIP-seq
MIRT893630	hsa-miR-4657	CLIP-seq
MIRT893631	hsa-miR-4694-3p	CLIP-seq
MIRT893632	hsa-miR-4697-3p	CLIP-seq
MIRT893633	hsa-miR-4726-5p	CLIP-seq
MIRT893634	hsa-miR-4738-5p	CLIP-seq
MIRT893635	hsa-miR-502-5p	CLIP-seq
MIRT893636	hsa-miR-520a-3p	CLIP-seq
MIRT893637	hsa-miR-520b	CLIP-seq
MIRT893638	hsa-miR-520c-3p	CLIP-seq
MIRT893639	hsa-miR-520d-3p	CLIP-seq
MIRT893640	hsa-miR-520e	CLIP-seq
MIRT893641	hsa-miR-520f	CLIP-seq
MIRT893642	hsa-miR-548u	CLIP-seq
MIRT893643	hsa-miR-635	CLIP-seq
MIRT893644	hsa-miR-767-5p	CLIP-seq
MIRT893645	hsa-miR-921	CLIP-seq
MIRT1964920	hsa-miR-103a	CLIP-seq
MIRT1964921	hsa-miR-107	CLIP-seq
MIRT1964922	hsa-miR-1301	CLIP-seq
MIRT1964923	hsa-miR-3180-5p	CLIP-seq
MIRT1964924	hsa-miR-4426	CLIP-seq
MIRT1964925	hsa-miR-4517	CLIP-seq
MIRT1964926	hsa-miR-4647	CLIP-seq
MIRT1964927	hsa-miR-4662b	CLIP-seq
MIRT1964928	hsa-miR-4735-5p	CLIP-seq
MIRT1964929	hsa-miR-5047	CLIP-seq
MIRT1964930	hsa-miR-576-5p	CLIP-seq
MIRT1964920	hsa-miR-103a	CLIP-seq
MIRT1964921	hsa-miR-107	CLIP-seq
MIRT1964922	hsa-miR-1301	CLIP-seq
MIRT893600	hsa-miR-1324	CLIP-seq
MIRT893612	hsa-miR-3065-5p	CLIP-seq
MIRT2200901	hsa-miR-4257	CLIP-seq
MIRT1964925	hsa-miR-4517	CLIP-seq
MIRT2200902	hsa-miR-4536	CLIP-seq
MIRT1964928	hsa-miR-4735-5p	CLIP-seq
MIRT893634	hsa-miR-4738-5p	CLIP-seq
MIRT1964929	hsa-miR-5047	CLIP-seq
MIRT2200903	hsa-miR-548t	CLIP-seq
MIRT1964930	hsa-miR-576-5p	CLIP-seq
MIRT893598	hsa-miR-1297	CLIP-seq
MIRT2503735	hsa-miR-1299	CLIP-seq
MIRT2503736	hsa-miR-205	CLIP-seq
MIRT893603	hsa-miR-223	CLIP-seq
MIRT2503737	hsa-miR-2276	CLIP-seq
MIRT893604	hsa-miR-26a	CLIP-seq
MIRT893605	hsa-miR-26b	CLIP-seq
MIRT893607	hsa-miR-302a	CLIP-seq
MIRT893608	hsa-miR-302b	CLIP-seq
MIRT893609	hsa-miR-302c	CLIP-seq
MIRT893610	hsa-miR-302d	CLIP-seq
MIRT893611	hsa-miR-302e	CLIP-seq
MIRT2503738	hsa-miR-3173-3p	CLIP-seq
MIRT893614	hsa-miR-3189-3p	CLIP-seq
MIRT2503739	hsa-miR-3689d	CLIP-seq
MIRT893620	hsa-miR-372	CLIP-seq
MIRT893621	hsa-miR-373	CLIP-seq
MIRT2503740	hsa-miR-410	CLIP-seq
MIRT893623	hsa-miR-4277	CLIP-seq
MIRT2503741	hsa-miR-4282	CLIP-seq
MIRT893625	hsa-miR-4465	CLIP-seq
MIRT1964925	hsa-miR-4517	CLIP-seq
MIRT2503742	hsa-miR-4528	CLIP-seq
MIRT893629	hsa-miR-4640-5p	CLIP-seq
MIRT2503743	hsa-miR-4668-3p	CLIP-seq
MIRT893632	hsa-miR-4697-3p	CLIP-seq
MIRT2503744	hsa-miR-4698	CLIP-seq
MIRT893633	hsa-miR-4726-5p	CLIP-seq
MIRT2503745	hsa-miR-4760-5p	CLIP-seq
MIRT2503746	hsa-miR-4772-3p	CLIP-seq
MIRT2503747	hsa-miR-4775	CLIP-seq
MIRT2503748	hsa-miR-4781-3p	CLIP-seq
MIRT2503749	hsa-miR-4782-5p	CLIP-seq
MIRT893635	hsa-miR-502-5p	CLIP-seq
MIRT2503750	hsa-miR-516b	CLIP-seq
MIRT893636	hsa-miR-520a-3p	CLIP-seq
MIRT893637	hsa-miR-520b	CLIP-seq
MIRT893638	hsa-miR-520c-3p	CLIP-seq
MIRT893639	hsa-miR-520d-3p	CLIP-seq
MIRT893640	hsa-miR-520e	CLIP-seq
MIRT893641	hsa-miR-520f	CLIP-seq
MIRT2503751	hsa-miR-541	CLIP-seq
MIRT2503752	hsa-miR-548ag	CLIP-seq
MIRT2503753	hsa-miR-548ai	CLIP-seq
MIRT2503754	hsa-miR-580	CLIP-seq
MIRT2503755	hsa-miR-590-3p	CLIP-seq
MIRT2503756	hsa-miR-617	CLIP-seq
MIRT2503757	hsa-miR-618	CLIP-seq
MIRT893643	hsa-miR-635	CLIP-seq
MIRT2503758	hsa-miR-654-5p	CLIP-seq
MIRT2503759	hsa-miR-875-3p	CLIP-seq
MIRT2503760	hsa-miR-889	CLIP-seq
MIRT893603	hsa-miR-223	CLIP-seq
MIRT2503737	hsa-miR-2276	CLIP-seq
MIRT2503738	hsa-miR-3173-3p	CLIP-seq
MIRT2503739	hsa-miR-3689d	CLIP-seq
MIRT2503740	hsa-miR-410	CLIP-seq
MIRT1964925	hsa-miR-4517	CLIP-seq
MIRT893632	hsa-miR-4697-3p	CLIP-seq
MIRT2503746	hsa-miR-4772-3p	CLIP-seq
MIRT2503747	hsa-miR-4775	CLIP-seq
MIRT2503748	hsa-miR-4781-3p	CLIP-seq
MIRT2503751	hsa-miR-541	CLIP-seq
MIRT2503752	hsa-miR-548ag	CLIP-seq
MIRT2503753	hsa-miR-548ai	CLIP-seq
MIRT2503754	hsa-miR-580	CLIP-seq
MIRT2503755	hsa-miR-590-3p	CLIP-seq
MIRT2503756	hsa-miR-617	CLIP-seq
MIRT2503757	hsa-miR-618	CLIP-seq
MIRT2503758	hsa-miR-654-5p	CLIP-seq
MIRT2503760	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	17376863
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IBA
GO:0010506	Process	Regulation of autophagy	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IDA	36194135
GO:0042802	Function	Identical protein binding	IPI	17766439, 17766440
GO:0042803	Function	Protein homodimerization activity	IDA	17905743, 23758282
GO:0043457	Process	Regulation of cellular respiration	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047801	Function	L-cysteine transaminase activity	IBA
GO:0047801	Function	L-cysteine transaminase activity	IDA	36194135
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IBA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IDA	17766439, 17766440, 17905743, 21788481, 23758282
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0051604	Process	Protein maturation	IDA	21788481

Other IDs

• MIM: 611932
• HGNC: 30880
• e!Ensembl: ENSG00000122873

Protein

• UniProt ID: Q9NZ45
• Protein name: CDGSH iron-sulfur domain-containing protein 1 (Cysteine transaminase CISD1) (EC 2.6.1.3) (MitoNEET)
• Protein function: L-cysteine transaminase that catalyzes the reversible transfer of the amino group from L-cysteine to the alpha-keto acid 2-oxoglutarate to respectively form 2-oxo-3-sulfanylpropanoate and L-glutamate (PubMed:36194135). The catalytic cycle occurs
• PDB: 2QD0, 2QH7, 2R13, 3EW0, 3LPQ, 3REE, 4EZF, 4F1E, 4F28, 4F2C, 6DE9, 7P0O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10660	MitoNEET_N	8 → 41	Iron-containing outer mitochondrial membrane protein N-terminus	Domain
  PF09360	zf-CDGSH	32 → 88	Iron-binding zinc finger CDGSH type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expression is reduced in cells derived from cystic fibrosis patients. {ECO:0000269|PubMed:18047834}.
• Sequence:

  MSLTSSSSVRVEWIAAVTIAAGTAAIGYLAYKRFYVKDHRNKAMINLHIQKDNPKIVHAF
  DMEDLGDKAVYCRCWRSKKFPFCDGAHTKHNEETGDNVGPLIIKKKET

• Sequence length: 108

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	38092781	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Iron Deficiency	Iron deficiency anemia	Pubtator	34946818	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29311966		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	36030279	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29311966		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23959881		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34059009, 36671422	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35313629	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31010844, 36081434	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28426722, 29311966		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28426722, 29556009	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30805086		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	30805086	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22945239, 28426722, 28716905		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	17905743, 20099820, 23758282, 28426722, 29556009, 30805086, 36671422	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22945239, 28426722, 28716905		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28082676, 35609862	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22945239, 25503385, 27923678, 28082676, 28461337, 31117349		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32484805	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19574633	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	36611912	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23959881		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28426722, 28716905, 29259115, 30805086, 31117349		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	37137430	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30805086, 34496224, 35725011	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35725011	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23959881		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31050203		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28426722, 29556009, 30805086, 35609862	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28880525, 30204426		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26692580		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26692580	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29556009	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	26692580	Associate	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	26692580		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28880525, 31117349		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31010844		★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	36050999	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34418989	Associate	★☆☆☆☆ Found in Text Mining only
WOLFRAM SYNDROME 2	Wolfram Syndrome	BEFREE	28082676		★☆☆☆☆ Found in Text Mining only