CIAO3 (cytosolic iron-sulfur assembly component 3)

2018-11-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
HPRN,IOP1,LET1L,NAR1,NARFL,PRN

Other Information

Locus ID:

NCBI: 64428
MIM: 611118
HGNC: 14179
Ensembl: ENSG00000103245

Variants:

dbSNP: 64428
ClinVar: 64428
TCGA: ENSG00000103245
COSMIC: CIAO3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103245ENST00000251588Q9H6Q4
ENSG00000103245ENST00000540986Q9H6Q4
ENSG00000103245ENST00000562421H3BSH2
ENSG00000103245ENST00000565065H3BQ03
ENSG00000103245ENST00000565425B4DEE7
ENSG00000103245ENST00000566614I3L2A3
ENSG00000103245ENST00000567403H3BSJ7
ENSG00000103245ENST00000568545Q9H6Q4
ENSG00000103245ENST00000570066H3BUF3
ENSG00000103245ENST00000570289H3BPX8

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Cytosolic iron-sulfur cluster assemblyREACTOMER-HSA-2564830

References

Pubmed IDYearTitleCitations
182702002008A role for IOP1 in mammalian cytosolic iron-sulfur protein biogenesis.23
198644222009Human ISCA1 interacts with IOP1/NARFL and functions in both cytosolic and mitochondrial iron-sulfur protein biogenesis.23
235855632013IOP1 protein is an external component of the human cytosolic iron-sulfur cluster assembly (CIA) machinery and functions in the MMS19 protein-dependent CIA pathway.11
278358622017A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations.2

Citation

Dessen P

CIAO3 (cytosolic iron-sulfur assembly component 3)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80617/ciao3