ISCA1 (iron-sulfur cluster assembly 1)

Gene

• Entrez ID: 81689
• Gene name: Iron-sulfur cluster assembly 1
• Gene symbol: ISCA1
• Synonyms: HBLD2, ISA1, MMDS5, hIscA, hIscA1
• Chromosome: 9
• Chromosome location: 9q21.33
• Summary: ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs776679653	C>T	Pathogenic	Coding sequence variant, missense variant
rs1587823007	A>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047223	hsa-miR-181c-5p	CLASH	23622248
MIRT563453	hsa-miR-4311	PAR-CLIP	20371350
MIRT563452	hsa-miR-1276	PAR-CLIP	20371350
MIRT563451	hsa-miR-583	PAR-CLIP	20371350
MIRT563449	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT563450	hsa-miR-1254	PAR-CLIP	20371350
MIRT563448	hsa-miR-3116	PAR-CLIP	20371350
MIRT563447	hsa-miR-661	PAR-CLIP	20371350
MIRT563445	hsa-miR-6894-3p	PAR-CLIP	20371350
MIRT563446	hsa-miR-6514-3p	PAR-CLIP	20371350
MIRT563444	hsa-miR-4774-3p	PAR-CLIP	20371350
MIRT563443	hsa-miR-3152-5p	PAR-CLIP	20371350
MIRT563453	hsa-miR-4311	PAR-CLIP	20371350
MIRT563452	hsa-miR-1276	PAR-CLIP	20371350
MIRT563451	hsa-miR-583	PAR-CLIP	20371350
MIRT563449	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT563450	hsa-miR-1254	PAR-CLIP	20371350
MIRT563448	hsa-miR-3116	PAR-CLIP	20371350
MIRT563447	hsa-miR-661	PAR-CLIP	20371350
MIRT563445	hsa-miR-6894-3p	PAR-CLIP	20371350
MIRT563446	hsa-miR-6514-3p	PAR-CLIP	20371350
MIRT563444	hsa-miR-4774-3p	PAR-CLIP	20371350
MIRT563443	hsa-miR-3152-5p	PAR-CLIP	20371350
MIRT487949	hsa-miR-624-3p	PAR-CLIP	23592263
MIRT487948	hsa-miR-5007-5p	PAR-CLIP	23592263
MIRT487947	hsa-miR-2114-5p	PAR-CLIP	23592263
MIRT487946	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT487945	hsa-miR-8085	PAR-CLIP	23592263
MIRT487944	hsa-miR-3175	PAR-CLIP	23592263
MIRT487943	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT487942	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT487941	hsa-miR-3132	PAR-CLIP	23592263
MIRT487940	hsa-miR-4451	PAR-CLIP	23592263
MIRT563453	hsa-miR-4311	PAR-CLIP	20371350
MIRT563452	hsa-miR-1276	PAR-CLIP	20371350
MIRT563451	hsa-miR-583	PAR-CLIP	20371350
MIRT563449	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT563450	hsa-miR-1254	PAR-CLIP	20371350
MIRT563448	hsa-miR-3116	PAR-CLIP	20371350
MIRT563447	hsa-miR-661	PAR-CLIP	20371350
MIRT563445	hsa-miR-6894-3p	PAR-CLIP	20371350
MIRT563446	hsa-miR-6514-3p	PAR-CLIP	20371350
MIRT563444	hsa-miR-4774-3p	PAR-CLIP	20371350
MIRT563443	hsa-miR-3152-5p	PAR-CLIP	20371350
MIRT563453	hsa-miR-4311	PAR-CLIP	20371350
MIRT563452	hsa-miR-1276	PAR-CLIP	20371350
MIRT563451	hsa-miR-583	PAR-CLIP	20371350
MIRT563449	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT563450	hsa-miR-1254	PAR-CLIP	20371350
MIRT563448	hsa-miR-3116	PAR-CLIP	20371350
MIRT563447	hsa-miR-661	PAR-CLIP	20371350
MIRT563445	hsa-miR-6894-3p	PAR-CLIP	20371350
MIRT563446	hsa-miR-6514-3p	PAR-CLIP	20371350
MIRT563444	hsa-miR-4774-3p	PAR-CLIP	20371350
MIRT563443	hsa-miR-3152-5p	PAR-CLIP	20371350
MIRT487949	hsa-miR-624-3p	PAR-CLIP	23592263
MIRT487948	hsa-miR-5007-5p	PAR-CLIP	23592263
MIRT487947	hsa-miR-2114-5p	PAR-CLIP	23592263
MIRT487946	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT487945	hsa-miR-8085	PAR-CLIP	23592263
MIRT487944	hsa-miR-3175	PAR-CLIP	23592263
MIRT487943	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT487942	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT487941	hsa-miR-3132	PAR-CLIP	23592263
MIRT487940	hsa-miR-4451	PAR-CLIP	23592263
MIRT1072446	hsa-miR-1262	CLIP-seq
MIRT1072447	hsa-miR-1283	CLIP-seq
MIRT1072448	hsa-miR-1293	CLIP-seq
MIRT1072449	hsa-miR-135a	CLIP-seq
MIRT1072450	hsa-miR-135b	CLIP-seq
MIRT1072451	hsa-miR-1827	CLIP-seq
MIRT1072452	hsa-miR-186	CLIP-seq
MIRT1072453	hsa-miR-216b	CLIP-seq
MIRT1072454	hsa-miR-221	CLIP-seq
MIRT1072455	hsa-miR-222	CLIP-seq
MIRT1072456	hsa-miR-3119	CLIP-seq
MIRT1072457	hsa-miR-3126-5p	CLIP-seq
MIRT1072458	hsa-miR-3129-3p	CLIP-seq
MIRT1072459	hsa-miR-3133	CLIP-seq
MIRT1072460	hsa-miR-3148	CLIP-seq
MIRT1072461	hsa-miR-3163	CLIP-seq
MIRT1072462	hsa-miR-3173-3p	CLIP-seq
MIRT1072463	hsa-miR-3185	CLIP-seq
MIRT1072464	hsa-miR-3658	CLIP-seq
MIRT1072465	hsa-miR-3675-3p	CLIP-seq
MIRT1072466	hsa-miR-3681	CLIP-seq
MIRT1072467	hsa-miR-4316	CLIP-seq
MIRT1072468	hsa-miR-4419a	CLIP-seq
MIRT1072469	hsa-miR-4428	CLIP-seq
MIRT1072470	hsa-miR-4483	CLIP-seq
MIRT1072471	hsa-miR-4504	CLIP-seq
MIRT1072472	hsa-miR-4510	CLIP-seq
MIRT1072473	hsa-miR-4521	CLIP-seq
MIRT1072474	hsa-miR-4663	CLIP-seq
MIRT1072475	hsa-miR-4684-3p	CLIP-seq
MIRT1072476	hsa-miR-4684-5p	CLIP-seq
MIRT1072477	hsa-miR-4701-3p	CLIP-seq
MIRT1072478	hsa-miR-4709-3p	CLIP-seq
MIRT1072479	hsa-miR-4717-5p	CLIP-seq
MIRT1072480	hsa-miR-4719	CLIP-seq
MIRT1072481	hsa-miR-4728-3p	CLIP-seq
MIRT1072482	hsa-miR-513c	CLIP-seq
MIRT1072483	hsa-miR-514b-5p	CLIP-seq
MIRT1072484	hsa-miR-548c-3p	CLIP-seq
MIRT1072485	hsa-miR-548v	CLIP-seq
MIRT1072486	hsa-miR-549	CLIP-seq
MIRT1072487	hsa-miR-568	CLIP-seq
MIRT1072488	hsa-miR-873	CLIP-seq
MIRT1072447	hsa-miR-1283	CLIP-seq
MIRT1072454	hsa-miR-221	CLIP-seq
MIRT1072455	hsa-miR-222	CLIP-seq
MIRT1072485	hsa-miR-548v	CLIP-seq
MIRT1072452	hsa-miR-186	CLIP-seq
MIRT1072457	hsa-miR-3126-5p	CLIP-seq
MIRT1072462	hsa-miR-3173-3p	CLIP-seq
MIRT2017865	hsa-miR-3606	CLIP-seq
MIRT2017866	hsa-miR-3689a-3p	CLIP-seq
MIRT2017867	hsa-miR-3689c	CLIP-seq
MIRT2017868	hsa-miR-3973	CLIP-seq
MIRT2017869	hsa-miR-4266	CLIP-seq
MIRT2017870	hsa-miR-4330	CLIP-seq
MIRT1072468	hsa-miR-4419a	CLIP-seq
MIRT2017871	hsa-miR-4425	CLIP-seq
MIRT1072469	hsa-miR-4428	CLIP-seq
MIRT1072472	hsa-miR-4510	CLIP-seq
MIRT1072473	hsa-miR-4521	CLIP-seq
MIRT1072474	hsa-miR-4663	CLIP-seq
MIRT2017872	hsa-miR-4694-3p	CLIP-seq
MIRT1072481	hsa-miR-4728-3p	CLIP-seq
MIRT2017873	hsa-miR-4766-3p	CLIP-seq
MIRT2017874	hsa-miR-520g	CLIP-seq
MIRT2017875	hsa-miR-520h	CLIP-seq
MIRT2017876	hsa-miR-539	CLIP-seq
MIRT2017877	hsa-miR-651	CLIP-seq
MIRT1072488	hsa-miR-873	CLIP-seq
MIRT2017878	hsa-miR-921	CLIP-seq
MIRT2249685	hsa-miR-1224-5p	CLIP-seq
MIRT2249686	hsa-miR-1233	CLIP-seq
MIRT1072452	hsa-miR-186	CLIP-seq
MIRT2249687	hsa-miR-1976	CLIP-seq
MIRT1072453	hsa-miR-216b	CLIP-seq
MIRT1072465	hsa-miR-3675-3p	CLIP-seq
MIRT2017868	hsa-miR-3973	CLIP-seq
MIRT2249688	hsa-miR-4279	CLIP-seq
MIRT2249689	hsa-miR-4422	CLIP-seq
MIRT2249690	hsa-miR-4643	CLIP-seq
MIRT2249691	hsa-miR-466	CLIP-seq
MIRT1072475	hsa-miR-4684-3p	CLIP-seq
MIRT1072476	hsa-miR-4684-5p	CLIP-seq
MIRT2249692	hsa-miR-4751	CLIP-seq
MIRT2249693	hsa-miR-4789-3p	CLIP-seq
MIRT2249694	hsa-miR-486-5p	CLIP-seq
MIRT2249695	hsa-miR-501-3p	CLIP-seq
MIRT2249696	hsa-miR-502-3p	CLIP-seq
MIRT2017874	hsa-miR-520g	CLIP-seq
MIRT2017875	hsa-miR-520h	CLIP-seq
MIRT1072486	hsa-miR-549	CLIP-seq
MIRT2249697	hsa-miR-590-3p	CLIP-seq
MIRT1072447	hsa-miR-1283	CLIP-seq
MIRT2389476	hsa-miR-1305	CLIP-seq
MIRT1072452	hsa-miR-186	CLIP-seq
MIRT1072454	hsa-miR-221	CLIP-seq
MIRT1072455	hsa-miR-222	CLIP-seq
MIRT1072457	hsa-miR-3126-5p	CLIP-seq
MIRT1072459	hsa-miR-3133	CLIP-seq
MIRT1072468	hsa-miR-4419a	CLIP-seq
MIRT1072472	hsa-miR-4510	CLIP-seq
MIRT1072474	hsa-miR-4663	CLIP-seq
MIRT1072481	hsa-miR-4728-3p	CLIP-seq
MIRT2389477	hsa-miR-498	CLIP-seq
MIRT1072485	hsa-miR-548v	CLIP-seq
MIRT2389478	hsa-miR-607	CLIP-seq
MIRT1072484	hsa-miR-548c-3p	CLIP-seq
MIRT1072487	hsa-miR-568	CLIP-seq
MIRT2553136	hsa-miR-1234	CLIP-seq
MIRT1072446	hsa-miR-1262	CLIP-seq
MIRT1072448	hsa-miR-1293	CLIP-seq
MIRT1072449	hsa-miR-135a	CLIP-seq
MIRT1072450	hsa-miR-135b	CLIP-seq
MIRT2553137	hsa-miR-2114	CLIP-seq
MIRT2553138	hsa-miR-2964a-5p	CLIP-seq
MIRT2553139	hsa-miR-300	CLIP-seq
MIRT2553140	hsa-miR-3123	CLIP-seq
MIRT1072458	hsa-miR-3129-3p	CLIP-seq
MIRT1072460	hsa-miR-3148	CLIP-seq
MIRT2553141	hsa-miR-3162-3p	CLIP-seq
MIRT1072461	hsa-miR-3163	CLIP-seq
MIRT2553142	hsa-miR-3616-3p	CLIP-seq
MIRT2553143	hsa-miR-3646	CLIP-seq
MIRT2553144	hsa-miR-381	CLIP-seq
MIRT2553145	hsa-miR-3925-5p	CLIP-seq
MIRT2553146	hsa-miR-3976	CLIP-seq
MIRT2553147	hsa-miR-4257	CLIP-seq
MIRT2553148	hsa-miR-4274	CLIP-seq
MIRT2553149	hsa-miR-4421	CLIP-seq
MIRT2553150	hsa-miR-4436b-3p	CLIP-seq
MIRT1072470	hsa-miR-4483	CLIP-seq
MIRT2553151	hsa-miR-4530	CLIP-seq
MIRT2553152	hsa-miR-4652-3p	CLIP-seq
MIRT1072477	hsa-miR-4701-3p	CLIP-seq
MIRT2553153	hsa-miR-4704-3p	CLIP-seq
MIRT2553154	hsa-miR-4707-5p	CLIP-seq
MIRT2553155	hsa-miR-4738-3p	CLIP-seq
MIRT2553156	hsa-miR-4765	CLIP-seq
MIRT2553157	hsa-miR-4799-5p	CLIP-seq
MIRT2249695	hsa-miR-501-3p	CLIP-seq
MIRT2249696	hsa-miR-502-3p	CLIP-seq
MIRT1072484	hsa-miR-548c-3p	CLIP-seq
MIRT1072487	hsa-miR-568	CLIP-seq
MIRT2553158	hsa-miR-582-3p	CLIP-seq
MIRT2553159	hsa-miR-592	CLIP-seq
MIRT2553160	hsa-miR-597	CLIP-seq
MIRT2553161	hsa-miR-624	CLIP-seq
MIRT2553162	hsa-miR-634	CLIP-seq
MIRT2553163	hsa-miR-640	CLIP-seq
MIRT2553164	hsa-miR-767-5p	CLIP-seq
MIRT2553165	hsa-miR-769-5p	CLIP-seq
MIRT2249686	hsa-miR-1233	CLIP-seq
MIRT2553136	hsa-miR-1234	CLIP-seq
MIRT1072446	hsa-miR-1262	CLIP-seq
MIRT1072448	hsa-miR-1293	CLIP-seq
MIRT1072449	hsa-miR-135a	CLIP-seq
MIRT1072450	hsa-miR-135b	CLIP-seq
MIRT2553137	hsa-miR-2114	CLIP-seq
MIRT2553139	hsa-miR-300	CLIP-seq
MIRT1072458	hsa-miR-3129-3p	CLIP-seq
MIRT1072460	hsa-miR-3148	CLIP-seq
MIRT2553141	hsa-miR-3162-3p	CLIP-seq
MIRT1072461	hsa-miR-3163	CLIP-seq
MIRT2553142	hsa-miR-3616-3p	CLIP-seq
MIRT2553143	hsa-miR-3646	CLIP-seq
MIRT2682918	hsa-miR-3688-5p	CLIP-seq
MIRT2553144	hsa-miR-381	CLIP-seq
MIRT2553147	hsa-miR-4257	CLIP-seq
MIRT2553148	hsa-miR-4274	CLIP-seq
MIRT2553150	hsa-miR-4436b-3p	CLIP-seq
MIRT2682919	hsa-miR-4470	CLIP-seq
MIRT1072470	hsa-miR-4483	CLIP-seq
MIRT2553151	hsa-miR-4530	CLIP-seq
MIRT2553152	hsa-miR-4652-3p	CLIP-seq
MIRT2017872	hsa-miR-4694-3p	CLIP-seq
MIRT1072477	hsa-miR-4701-3p	CLIP-seq
MIRT2553153	hsa-miR-4704-3p	CLIP-seq
MIRT2553154	hsa-miR-4707-5p	CLIP-seq
MIRT2553155	hsa-miR-4738-3p	CLIP-seq
MIRT2553156	hsa-miR-4765	CLIP-seq
MIRT2553157	hsa-miR-4799-5p	CLIP-seq
MIRT2249695	hsa-miR-501-3p	CLIP-seq
MIRT2249696	hsa-miR-502-3p	CLIP-seq
MIRT2682920	hsa-miR-548a-3p	CLIP-seq
MIRT1072484	hsa-miR-548c-3p	CLIP-seq
MIRT2682921	hsa-miR-548e	CLIP-seq
MIRT2682922	hsa-miR-548f	CLIP-seq
MIRT1072487	hsa-miR-568	CLIP-seq
MIRT2553158	hsa-miR-582-3p	CLIP-seq
MIRT2553159	hsa-miR-592	CLIP-seq
MIRT2553160	hsa-miR-597	CLIP-seq
MIRT2553161	hsa-miR-624	CLIP-seq
MIRT2553162	hsa-miR-634	CLIP-seq
MIRT2553163	hsa-miR-640	CLIP-seq
MIRT2553164	hsa-miR-767-5p	CLIP-seq
MIRT2553165	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0016226	Process	Iron-sulfur cluster assembly	IBA	21873635
GO:0044281	Process	Small molecule metabolic process	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IBA	21873635
GO:0097428	Process	Protein maturation by iron-sulfur cluster transfer	IBA	21873635

Other IDs

• MIM: 611006
• HGNC: 28660
• e!Ensembl: ENSG00000135070

Protein

• UniProt ID: Q9BUE6
• Protein name: Iron-sulfur cluster assembly 1 homolog, mitochondrial (HESB-like domain-containing protein 2) (Iron-sulfur assembly protein IscA) (hIscA)
• Protein function: Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly. {ECO:0000269|PubMed:15262227, ECO:0000269|Pub
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01521	Fe-S_biosyn	23 → 125	Iron-sulphur cluster biosynthesis	Family

• Sequence:

  MSASLVRATVRAVSKRKLQPTRAALTLTPSAVNKIKQLLKDKPEHVGVKVGVRTRGCNGL
  SYTLEYTKTKGDSDEEVIQDGVRVFIEKKAQLTLLGTEMDYVEDKLSSEFVFNNPNIKGT
  CGCGESFNI

• Sequence length: 129

Pathways

Reactome:

Mitochondrial iron-sulfur cluster biogenesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417	28356563
Multiple mitochondrial dysfunctions syndrome	Multiple Mitochondrial Dysfunctions Syndrome, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, Multiple mitochondrial dysfunctions syndrome type 5	rs374514431, rs869320737, rs587777016, rs730882246, rs876657407, rs371546359, rs143492730, rs769222264, rs886039730, rs756085990, rs1354126704, rs145596167, rs200188353, rs1436866272, rs1461200360, rs73095427, rs1553264669, rs1553264725, rs769063859, rs765926471, rs1053773776, rs1261081427, rs781627051, rs1553264773, rs765132163, rs1587823007, rs1464338870, rs550855238, rs1209052568	28356563, 29767723, 28356563, 30105122

Unknown
Disease name	Disease term	dbSNP ID	References
Pachygyria	Pachygyria		28356563