This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009].
Function:
Substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes at least two forms of creatine kinase, CKB and CKMT1A.
Subcellular Location:
Mitochondrion.
Tissue Specificity:
Predominantly expressed in testis, kidney, and liver.
Similarity:
Contains 6 ANK repeats.
Contains 1 SOCS box domain.
SWISS:
Q96DX5
Gene ID:
140462
Database links:
Entrez Gene: 140462 Human
Omim: 300890 Human
SwissProt: Q96DX5 Human
Unigene: 19404 Human
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