CIAPIN1

Chr 16

cytokine induced apoptosis inhibitor 1

Also known as: Anamorsin, CIAE2, DRE2, PRO0915

NCBI Gene: 57019 ENSG00000005194 UniProt: Q6FI81 OMIM: 608943

The protein functions as a component of the cytosolic iron-sulfur protein assembly machinery, facilitating electron transfer for the maturation of iron-sulfur clusters and assembly of the ribonucleotide reductase cofactor. CIAPIN1 mutations have not been definitively associated with human disease, as evidenced by low constraint metrics (pLI 0.002, LOEUF 0.84) indicating tolerance to loss-of-function variants. The protein also has anti-apoptotic effects and promotes hematopoietic cell development.

OMIM ResearchSummary from RefSeq, UniProt

CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.84

LOEUF

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Mechanism